@prefix rdf: . @prefix : . @prefix dc: . @prefix obo: . @prefix owl: . @prefix xml: . @prefix xsd: . @prefix doid: . @prefix rdfs: . @prefix skos: . @prefix terms: . @prefix oboInOwl: . obo:DOID_0001816 obo:IAO_0000115 "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:267"^^xsd:string, "DOID:4508"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9120/3"^^xsd:string, "MESH:D006394"^^xsd:string, "NCI:C3088"^^xsd:string, "NCI:C9275"^^xsd:string, "SNOMEDCT_US_2021_03_01:39000009"^^xsd:string, "UMLS_CUI:C0018923"^^xsd:string, "UMLS_CUI:C0854893"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0001816"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_175 . obo:DOID_0002116 obo:IAO_0000115 "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation."^^xsd:string ; oboInOwl:created_by "laronhughes"^^xsd:string ; oboInOwl:creation_date "2010-06-30T02:44:30Z"^^xsd:string ; oboInOwl:hasDbXref "UMLS_CUI:C0033999"^^xsd:string ; oboInOwl:hasExactSynonym "surfer's eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0002116"^^xsd:string ; a owl:Class ; rdfs:label "pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0014667 obo:IAO_0000115 "A disease that involving errors in metabolic processes of building or degradation of molecules."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.9"^^xsd:string, "ICD9CM:277.9"^^xsd:string, "MESH:D008659"^^xsd:string, "NCI:C3235"^^xsd:string, "SNOMEDCT_US_2021_03_01:75934005"^^xsd:string, "UMLS_CUI:C0025517"^^xsd:string ; oboInOwl:hasExactSynonym "metabolic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0014667"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "disease of metabolism"^^xsd:string ; rdfs:subClassOf obo:DOID_4 . obo:DOID_0040001 obo:IAO_0000115 "A crustacean allergy that has_allergic_trigger shrimp."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040001"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "shrimp allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060524, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002239 ] . obo:DOID_0040002 obo:IAO_0000115 "A drug allergy that has_allergic_trigger acetylsalicylic acid."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293586001"^^xsd:string, "UMLS_CUI:C0004058"^^xsd:string ; oboInOwl:hasExactSynonym "ASA allergy"@en, "acetylsalicylic acid allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040002"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "aspirin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_15365 ] . obo:DOID_0040003 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger benzylpenicillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294499007"^^xsd:string, "UMLS_CUI:C0571411"^^xsd:string ; oboInOwl:hasExactSynonym "benzyl penicillin allergy"@en, "penicillin G allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040003"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzylpenicillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_18208 ] . obo:DOID_0040004 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger amoxicillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294505008"^^xsd:string, "UMLS_CUI:C0571417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040004"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "amoxicillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_2676 ] . obo:DOID_0040005 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger ceftriaxone."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294551009"^^xsd:string, "UMLS_CUI:C0571463"^^xsd:string ; oboInOwl:hasExactSynonym "rocephin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040005"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ceftriaxone allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_29007 ] . obo:DOID_0040006 obo:IAO_0000115 "A drug allergy that has_allergic_trigger carbamazepine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293867002"^^xsd:string, "UMLS_CUI:C0570787"^^xsd:string ; oboInOwl:hasExactSynonym "Tegretol allergy"@en, "carbamazepen allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040006"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carbamazepine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3387 ] . obo:DOID_0040007 obo:IAO_0000115 "A drug allergy that has_allergic_trigger abacavir."^^xsd:string ; oboInOwl:hasExactSynonym "ABC allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040007"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "abacavir allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_421707 ] . obo:DOID_0040008 obo:IAO_0000115 "A drug allergy that has_allergic_trigger isoniazide."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Z88.1"^^xsd:string ; oboInOwl:hasExactSynonym "INH allergy"@en, "isonicotinylhydrazide allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040008"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "isoniazide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6030 ] . obo:DOID_0040009 obo:IAO_0000115 "A drug allergy that has_allergic_trigger lidocaine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293722000"^^xsd:string, "UMLS_CUI:C0570646"^^xsd:string ; oboInOwl:hasExactSynonym "Lidoderm allergy"@en, "lignocaine allergy"@en, "xylocaine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040009"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "lidocaine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6456 ] . obo:DOID_0040010 obo:IAO_0000115 "A drug allergy that has_allergic_trigger mepivacaine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Z88.4"^^xsd:string ; oboInOwl:hasExactSynonym "Carbocaine allergy"@en, "Polocaine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040010"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "mepivacaine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6759 ] . obo:DOID_0040011 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phenobarbital."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293865005"^^xsd:string, "UMLS_CUI:C0570785"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal allergy"@en, "phenobarbitol allergy"@en, "phenobarbitone allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040011"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phenobarbital allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8069 ] . obo:DOID_0040012 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phenytoin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293869004"^^xsd:string, "UMLS_CUI:C0570789"^^xsd:string ; oboInOwl:hasExactSynonym "Dilantin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040012"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phenytoin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8107 ] . obo:DOID_0040013 obo:IAO_0000115 "A drug allergy that has_allergic_trigger ranitidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293653009"^^xsd:string, "UMLS_CUI:C0570577"^^xsd:string ; oboInOwl:hasExactSynonym "Zantac allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040013"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ranitidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8776 ] . obo:DOID_0040014 obo:IAO_0000115 "A drug allergy that has_allergic_trigger corticosteroid."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040014"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "corticosteroid allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_50858 ] . obo:DOID_0040015 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfonamide."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:91939003"^^xsd:string, "UMLS_CUI:C0038757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040015"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfonamide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_35358 ] . obo:DOID_0040016 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfamethoxazole."^^xsd:string ; oboInOwl:hasExactSynonym "SMX allergy"@en, "SMZ allergy"@en, "sulphamethoxazole allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040016"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfamethoxazole allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9332 ] . obo:DOID_0040017 obo:IAO_0000115 "A drug allergy that has_allergic_trigger suprofen."^^xsd:string ; oboInOwl:hasExactSynonym "Profenal allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040017"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "suprofen allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9362 ] . obo:DOID_0040018 obo:IAO_0000115 "A drug allergy that has_allergic_trigger thiopental."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293709008"^^xsd:string, "UMLS_CUI:C0570633"^^xsd:string ; oboInOwl:hasExactSynonym "penthiobarbital allergy"@en, "pentothiobarbital allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040018"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "thiopental allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_102166 ] . obo:DOID_0040019 obo:IAO_0000115 "A drug allergy that has_allergic_trigger D-mannitol."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:295019008"^^xsd:string, "UMLS_CUI:C0571922"^^xsd:string ; oboInOwl:hasExactSynonym "mannitol allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040019"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "D-mannitol allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_16899 ] . obo:DOID_0040020 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefotaxime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294545004"^^xsd:string, "UMLS_CUI:C0571457"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040020"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefotaxime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_204928 ] . obo:DOID_0040021 obo:IAO_0000115 "A drug allergy that has_allergic_trigger cephalosporin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294532003"^^xsd:string, "UMLS_CUI:C0571444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040021"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cephalosporin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_23066 ] . obo:DOID_0040022 obo:IAO_0000115 "A drug allergy that has_allergic_trigger amodiaquine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294390007"^^xsd:string, "UMLS_CUI:C0571303"^^xsd:string ; oboInOwl:hasExactSynonym "Camoquin allergy"@en, "Flavoquine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040022"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "amodiaquine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_2674 ] . obo:DOID_0040023 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefaclor."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294541008"^^xsd:string, "UMLS_CUI:C0571453"^^xsd:string ; oboInOwl:hasExactSynonym "Ceclor allergy"@en, "cephaclor allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040023"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefaclor allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3478 ] . obo:DOID_0040024 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger ceftazidime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294546003"^^xsd:string, "UMLS_CUI:C0571458"^^xsd:string ; oboInOwl:hasExactSynonym "Fortaz allergy"@en, "Tazicef allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040024"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ceftazidime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3508 ] . obo:DOID_0040025 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefuroxime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294542001"^^xsd:string, "UMLS_CUI:C0571454"^^xsd:string ; oboInOwl:hasExactSynonym "Zinacef allergy"@en, "cephuroxime allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040025"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefuroxime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3515 ] . obo:DOID_0040026 obo:IAO_0000115 "A drug allergy that has_allergic_trigger chlorhexidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294431008"^^xsd:string, "UMLS_CUI:C0571344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040026"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chlorhexidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3614 ] . obo:DOID_0040027 obo:IAO_0000115 "A drug allergy that has_allergic_trigger cyclophosphamide."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293748008"^^xsd:string, "UMLS_CUI:C0570670"^^xsd:string ; oboInOwl:hasExactSynonym "cytophosphane allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040027"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cyclophosphamide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_4027 ] . obo:DOID_0040028 obo:IAO_0000115 "A drug allergy that has_allergic_trigger succinylcholine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294224007"^^xsd:string, "UMLS_CUI:C0571140"^^xsd:string ; oboInOwl:hasExactSynonym "dicholine succinate allergy"@en, "succinocholine allergy"@en, "sux allergy"@en, "suxamethonium allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040028"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "succinylcholine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_45652 ] . obo:DOID_0040029 obo:IAO_0000115 "A drug allergy that has_allergic_trigger trimethoprim."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294477004"^^xsd:string, "UMLS_CUI:C0571390"^^xsd:string ; oboInOwl:hasExactSynonym "Primsol allergy"@en, "TMP allergy"@en, "proloprim allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040029"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "trimethoprim allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_45924 ] . obo:DOID_0040030 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefixime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294548002"^^xsd:string, "UMLS_CUI:C0571460"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040030"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefixime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_472657 ] . obo:DOID_0040031 obo:IAO_0000115 "A drug allergy that has_allergic_trigger diclofenac."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293613006"^^xsd:string, "UMLS_CUI:C0570540"^^xsd:string ; oboInOwl:hasExactSynonym "Voltaren allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040031"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diclofenac allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_47381 ] . obo:DOID_0040032 obo:IAO_0000115 "A drug allergy that has_allergic_trigger carbapenems."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294531005"^^xsd:string, "UMLS_CUI:C0571443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040032"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carbapenem allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_46633 ] . obo:DOID_0040033 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger piperacillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294515002"^^xsd:string, "UMLS_CUI:C0571427"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040033"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "piperacillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8232 ] . obo:DOID_0040034 obo:IAO_0000115 "A drug allergy that has_allergic_trigger rocuronium."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294233009"^^xsd:string, "UMLS_CUI:C0571149"^^xsd:string ; oboInOwl:hasExactSynonym "Esmeron allergy"@en, "Zemuron allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040034"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "rocuronium allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8884 ] . obo:DOID_0040035 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfasalazine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293663001"^^xsd:string, "UMLS_CUI:C0570587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040035"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfasalazine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9334 ] . obo:DOID_0040036 obo:IAO_0000115 "A drug allergy that has_allergic_trigger tubocurarine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294231006"^^xsd:string, "UMLS_CUI:C0571147"^^xsd:string ; oboInOwl:hasExactSynonym "DTC allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040036"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tubocurarine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9774 ] . obo:DOID_0040037 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger aztreonam."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294565006"^^xsd:string, "UMLS_CUI:C0571476"^^xsd:string ; oboInOwl:hasExactSynonym "Azactam allergy"@en, "Primbactam allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040037"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "aztreonam allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_161680 ] . obo:DOID_0040038 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic."^^xsd:string ; oboInOwl:hasExactSynonym "Merrem allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040038"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "meropenem allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_43968 ] . obo:DOID_0040040 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to HDI"@en, "allergic asthma to HMDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040040"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "hexamethylene diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53578 ] . obo:DOID_0040041 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger isocyanates."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040041"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "isocyanates allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53212 ] . obo:DOID_0040042 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040042"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diphenylmethane-4,4'-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53218 ] . obo:DOID_0040043 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to TDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040043"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "toluene meta-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53555 ] . obo:DOID_0040044 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040044"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "methyl isocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59059 ] . obo:DOID_0040045 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger nickel atom."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to Ni"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040045"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "nickel allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28112 ] . obo:DOID_0040046 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger nickel atom."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L23.0"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Ni"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040046"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "nickel allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28112 ] . obo:DOID_0040047 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger trimellitic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to TMA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040047"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "trimellitic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53050 ] . obo:DOID_0040048 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger phthalic anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040048"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_36605 ] . obo:DOID_0040049 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger maleic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040049"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "maleic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_474859 ] . obo:DOID_0040050 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040050"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tetrachlorophthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59097 ] . obo:DOID_0040051 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to HHPA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040051"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "hexahydrophthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_103210 ] . obo:DOID_0040052 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to MDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040052"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diphenylmethane-4,4'-diisocyanate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53218 ] . obo:DOID_0040053 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger cobalt atom."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Co"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040053"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cobalt allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27638 ] . obo:DOID_0040054 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger cobalt atom."^^xsd:string ; oboInOwl:hasExactSynonym "Co allergic asthma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040054"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cobalt allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27638 ] . obo:DOID_0040055 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger palladium."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Pd"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040055"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "palladium allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_33363 ] . obo:DOID_0040056 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger chromium atom."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L23.0"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040056"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chromium allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28073 ] . obo:DOID_0040057 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger benzoic acid."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294186000"^^xsd:string, "UMLS_CUI:C0571102"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to benzoate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040057"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzoic acid allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_30746 ] . obo:DOID_0040058 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to PPD"@en, "allergic contact dermatitis to p-phenylenediamine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040058"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "1,4-phenylenediamine allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_51403 ] . obo:DOID_0040059 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger potassium dichromate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040059"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "potassium dichromate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53444 ] . obo:DOID_0040060 obo:IAO_0000115 "A photoallergic dermatitis that has_allergic_trigger ketoprofen."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293621000"^^xsd:string, "UMLS_CUI:C0570547"^^xsd:string ; oboInOwl:hasExactSynonym "photoallergic dermatitis to Orudis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040060"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ketoprofen photoallergic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_3818, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_6128 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040061 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger remazole black-GR."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to Reactive Black 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040061"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "remazole black respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53731 ] . obo:DOID_0040062 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger chloramine T."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to Chloraseptin"@en, "respiratory allergy to Chlorazol"@en, "respiratory allergy to Trichlorol"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040062"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chloramine T respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53767 ] . obo:DOID_0040063 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to vinyl cyclohexene diepoxide"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040063"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "4-vinylcyclohexene dioxide respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59001 ] . obo:DOID_0040064 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger (-)-carvone."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to levo-carvone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040064"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carvone allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_15400 ] . obo:DOID_0040065 obo:IAO_0000115 "A drug allergy that has_allergic_trigger quinidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294978001"^^xsd:string, "UMLS_CUI:C0571881"^^xsd:string ; oboInOwl:hasExactSynonym "Kinidin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040065"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "quinidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28593 ] . obo:DOID_0040066 obo:IAO_0000115 "A drug allergy that has_allergic_trigger melphalan."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293751001"^^xsd:string, "UMLS_CUI:C0570673"^^xsd:string ; oboInOwl:hasExactSynonym "Alkeran allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040066"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "melphalan allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28876 ] . obo:DOID_0040067 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:409640001"^^xsd:string, "UMLS_CUI:C1443961"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to neomycin sulphate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040067"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "neomycin sulfate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_31635 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040068 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to PTBP"@en, "allergic contact dermatitis to butylphen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040068"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "4-tert-butylphenol allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_34444 ] . obo:DOID_0040069 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to DNCB"@en, "allergic contact dermatitis to dinitrochlorobenzene"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040069"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "1-chloro-2,4-dinitrobenzene allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_34718 ] . obo:DOID_0040070 obo:IAO_0000115 "A drug allergy that has_allergic_trigger co-trimoxazole."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294594004"^^xsd:string, "UMLS_CUI:C0571504"^^xsd:string ; oboInOwl:hasExactSynonym "Bactrim allergy"@en, "TMP/SMX allergy"@en, "cotrimoxazol allergy"@en, "trimethoprim/sulfamethoxazole allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040070"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "co-trimoxazole allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3770 ] . obo:DOID_0040071 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sodium aurothiomalate."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294239008"^^xsd:string, "UMLS_CUI:C0571155"^^xsd:string ; oboInOwl:hasExactSynonym "gold sodium thiomalate allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040071"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sodium aurothiomalate allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_5516 ] . obo:DOID_0040072 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger parthenolide."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to feverfew"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040072"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "parthenolide allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_7939 ] . obo:DOID_0040073 obo:IAO_0000115 "A drug allergy that has_allergic_trigger disodium cromoglycate."^^xsd:string ; oboInOwl:hasExactSynonym "DSCG allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040073"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "disodium cromoglycate allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_128458 ] . obo:DOID_0040074 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger formaldehyde."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294426006"^^xsd:string, "UMLS_CUI:C0571339"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to formalin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040074"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "formaldehyde allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_16842 ] . obo:DOID_0040075 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to BIT"@en, "allergic contact dermatitis to benzisothiazolone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040075"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzo[d]isothiazol-3-one allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_167099 ] . obo:DOID_0040076 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phthalyl group."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294571000"^^xsd:string, "UMLS_CUI:C0571482"^^xsd:string ; oboInOwl:hasExactSynonym "phthalyl allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040076"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phthalyl group allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_26096 ] . obo:DOID_0040077 obo:IAO_0000115 "A drug allergy that has_allergic_trigger alcuronium bromide."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040077"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "alcuronium bromide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_488385 ] . obo:DOID_0040078 obo:IAO_0000115 "A drug allergy that has_allergic_trigger gallamine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294229002"^^xsd:string, "UMLS_CUI:C0571145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040078"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gallamine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_503442 ] . obo:DOID_0040079 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to DNP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040079"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "2,4-dinitrophenyl allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53018 ] . obo:DOID_0040080 obo:IAO_0000115 "A drug allergy that has_allergic_trigger patent blue V."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040080"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "patent blue V allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59601 ] . obo:DOID_0040081 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger acid anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040081"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "acid anhydride respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_36606 ] . obo:DOID_0040082 obo:IAO_0000115 "A drug allergy that has_allergic_trigger oxirane."^^xsd:string ; oboInOwl:hasExactSynonym "ETO allergy"@en, "ethylene oxide allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040082"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "oxirane allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27561 ] . obo:DOID_0040083 obo:IAO_0000115 "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J16.0"^^xsd:string, "ICD9CM:483.1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040083"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Chlamydia pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_83558 ] . obo:DOID_0040084 obo:IAO_0000115 "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J13"^^xsd:string, "ICD9CM:481"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040084"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Streptococcus pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1313 ] . obo:DOID_0040085 obo:IAO_0000115 "A bacterial infectious disease has_material_basis_in Bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:995.91"^^xsd:string, "SNOMEDCT_US_2020_03_01:10001005"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040085"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "bacterial sepsis"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0040086 obo:IAO_0000115 "A viral infectious disease has_material_basis_in BK polyomavirus."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:713886006"^^xsd:string, "UMLS_CUI:C1697878"^^xsd:string ; oboInOwl:hasExactSynonym "PVAN"@en, "polyomavirus associated nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040086"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Polyomavirus-associated nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1891762 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0040087 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040087"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_0040088 obo:IAO_0000115 "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040088"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060030, obo:DOID_3480, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] . obo:DOID_0040089 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040089"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune optic neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004904 ] . obo:DOID_0040090 obo:IAO_0000115 "An autoimmune disease of gastrointestinal tract that is located_in the stomach."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040090"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, obo:DOID_76, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_0040091 obo:IAO_0000115 "An autoimmune disease of endocrine system that is located_in the pancreas."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000081012"^^xsd:string, "SNOMEDCT_US_2021_03_01:448542008"^^xsd:string, "UMLS_CUI:C2609129"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040091"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune pancreatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005, obo:DOID_26, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ; skos:exactMatch "MESH:D000081012"^^xsd:string . obo:DOID_0040092 obo:IAO_0000115 "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M08.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:201802002"^^xsd:string, "UMLS_CUI:C0409675"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040092"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "juvenile ankylosing spondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0040093 obo:IAO_0000115 "A lupus erythematosus caused by chronic use of certain drugs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M32.0"^^xsd:string, "NCI:C114354"^^xsd:string, "ORDO:231111"^^xsd:string, "SNOMEDCT_US_2021_03_01:80258006"^^xsd:string, "UMLS_CUI:C0263591"^^xsd:string ; oboInOwl:hasExactSynonym "DIL"@en, "DILE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040093"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "drug-induced lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_8857, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_24431 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040094 obo:IAO_0000115 "An autoimmune disease of urogenital tract that is located_in the renal glomerulus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040094"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060049, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000074 ] . obo:DOID_0040095 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040095"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] . obo:DOID_0040096 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040096"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_0040097 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:427213005"^^xsd:string, "UMLS_CUI:C1328843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040097"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_0040098 obo:IAO_0000115 "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O26.4"^^xsd:string, "MESH:D006559"^^xsd:string, "SNOMEDCT_US_2018_03_01:86081009"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040098"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "pemphigus gestationis"^^xsd:string ; rdfs:subClassOf obo:DOID_9182, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002097 ] . obo:DOID_0040099 obo:IAO_0000115 "A vasculitis with purpuric ulcers."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L95.0"^^xsd:string, "ICD9CM:709.1"^^xsd:string ; oboInOwl:hasExactSynonym "livedoid vasculopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040099"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "livedoid vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_865 . obo:DOID_0040100 obo:IAO_0000115 "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:408539000"^^xsd:string, "UMLS_CUI:C0854359"^^xsd:string ; oboInOwl:hasExactSynonym "insulin autoimmune syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040100"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Hirata disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_0040101 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea."^^xsd:string ; oboInOwl:hasExactSynonym "neoprene allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040101"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "N,N'-diphenylthiourea allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_138412 ] . obo:DOID_0040102 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea."^^xsd:string ; oboInOwl:hasExactSynonym "neoprene allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040102"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "N,N'-diethylthiourea allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_82448 ] . obo:DOID_0040103 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefotiam."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040103"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefotiam allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_355510 ] . obo:DOID_0040104 obo:IAO_0000115 "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040104"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "toluene 2,4-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040043, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53556 ] . obo:DOID_0050001 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050001"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Actinomadura madurae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050002 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050002"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Actinomadura pelletieri infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050003 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050003"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptomyces somaliensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050004 obo:IAO_0000115 "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:301990003"^^xsd:string, "UMLS_CUI:C0578661"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050004"^^xsd:string ; a owl:Class ; rdfs:label "seminal vesicle acute gonorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_10400 . obo:DOID_0050007 obo:IAO_0000115 "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050007"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous strongyloidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050009 obo:IAO_0000115 "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050009"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal strongyloidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050010 obo:IAO_0000115 "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050010"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mansonella perstans infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050011 obo:IAO_0000115 "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050011"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mansonella streptocerca infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050012 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasDbXref "GARD:6038"^^xsd:string ; oboInOwl:hasExactSynonym "Chikungunya fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050012"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "chikungunya"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37124 ] . obo:DOID_0050013 obo:IAO_0000115 "An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050013"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "carbohydrate metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050014 obo:IAO_0000115 "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "EHD"@en ; oboInOwl:id "DOID:0050014"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epizootic hemorrhagic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050015 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rocio virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050024 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050024"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Ehrlichia ewingii ehrlichiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050025 obo:IAO_0000115 "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050021"^^xsd:string, "DOID:0050022"^^xsd:string ; oboInOwl:hasExactSynonym "human granulocytic ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "HGE"@en ; oboInOwl:id "DOID:0050025"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "human granulocytic anaplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10242, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6943 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050026 obo:IAO_0000115 "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14091"^^xsd:string ; oboInOwl:hasDbXref "GARD:72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Ehrlichiosis chafeensis"@en ; oboInOwl:id "DOID:0050026"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "human monocytic ehrlichiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10242, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_29930 obo:NCBITaxon_34613 obo:NCBITaxon_6945 ) ] ] . obo:DOID_0050032 obo:IAO_0000115 "An acquired metabolic disease that is characterized by abnormal mineral metabolism."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050032"^^xsd:string ; a owl:Class ; rdfs:label "mineral metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050035 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050034"^^xsd:string, "DOID:0050036"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia africae spotted fever"@en, "south african tick-bite fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050035"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "African tick-bite fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35788 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34608 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34610 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050041 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050041"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Astrakhan spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_127007 obo:NCBITaxon_34632 ) ] ] . obo:DOID_0050042 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050042"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Indian tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050043 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Israeli spotted fever"@en ; oboInOwl:id "DOID:0050043"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Israeli tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050046 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy."^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia heilongjiangensis spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050046"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Far Eastern spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_226665 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_523089 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050047 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050048"^^xsd:string ; oboInOwl:hasExactSynonym "Thai tick typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "FISF"@en ; oboInOwl:id "DOID:0050047"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Flinders Island spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37816 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34607 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050050 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050049"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia japonica spotted fever"@en, "oriental spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050050"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Japanese spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35790 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_181088 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34619 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050051 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash."^^xsd:string ; oboInOwl:hasExactSynonym "maculatum infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050051"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Rickettsia parkeri spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35792 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34609 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050052 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050056"^^xsd:string, "DOID:1708"^^xsd:string ; oboInOwl:hasDbXref "GARD:7585"^^xsd:string ; oboInOwl:hasExactSynonym "Tick typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Brazillian spotted"@en, "Choix"@en, "Exanthematic typhus of Sao Paulo"@en, "Fiebre maculosa"@en, "Fiebre manchada"@en, "Sao Paulo typhus"@en, "So Paulo fever"@en, "Tobia fever"@en ; oboInOwl:id "DOID:0050052"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Rocky Mountain spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_783 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34620 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34621 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050053 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050053"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete Rickettsia honei spotted fever"^^xsd:string ; owl:deprecated true . obo:DOID_0050059 obo:IAO_0000115 "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050059"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "oropharyngeal anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_13386, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050061 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004887"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050061"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "erysipeloid"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1648 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050063 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050063"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete abortive plague"^^xsd:string ; owl:deprecated true . obo:DOID_0050065 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050065"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous listeriosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050066 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050066"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Listeria meningoencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050067 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050067"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Listeria septicaemia"^^xsd:string ; owl:deprecated true . obo:DOID_0050068 obo:IAO_0000115 "A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050068"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pestis minor"^^xsd:string ; owl:deprecated true . obo:DOID_0050069 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050069"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pestis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050070 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050070"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete plague meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050072 obo:IAO_0000115 "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050072"^^xsd:string ; a owl:Class ; rdfs:label "adiaspiromycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_41283 obo:NCBITaxon_73230 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0002048 ) ] ] . obo:DOID_0050073 obo:IAO_0000115 "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050073"^^xsd:string ; a owl:Class ; rdfs:label "invasive aspergillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_13564, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050074 obo:IAO_0000115 "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050074"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tonsillar aspergillosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050075 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050076"^^xsd:string, "DOID:0050077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary blastomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050078 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050078"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cervix tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050079 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050079"^^xsd:string ; a owl:Class ; rdfs:label "obsolete niacin deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0050080 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050080"^^xsd:string ; a owl:Class ; rdfs:label "obsolete iodine deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0050082 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050081"^^xsd:string ; oboInOwl:hasExactSynonym "TT virus liver infection"@en, "Transfussion-transmitted virus liver infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "human circovirus infectious disease"@en ; oboInOwl:id "DOID:0050082"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatic Torque teno virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050083 obo:IAO_0000115 "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:8761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050083"^^xsd:string ; a owl:Class ; rdfs:label "Keshan disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0050084 obo:IAO_0000115 "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges."^^xsd:string ; oboInOwl:hasExactSynonym "Feline viral rhinotracheitis"@en, "feline coryza"@en, "feline influenza"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050084"^^xsd:string ; a owl:Class ; rdfs:comment "Not a human disease."^^xsd:string ; rdfs:label "obsolete rhinotracheitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050085 obo:IAO_0000115 "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050085"^^xsd:string ; a owl:Class ; rdfs:label "obsolete entomophthoromycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050086 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050088 obo:IAO_0000115 "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050088"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050089 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050089"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050090 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050090"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rhinocerebral mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050091 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated paracoccidioidomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050092 obo:IAO_0000115 "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary paracoccidioidomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050093 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050093"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050094 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050094"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphocutaneous sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050095 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050095"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050096 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules."^^xsd:string ; oboInOwl:hasExactSynonym "dermatophytosis of beard"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050096"^^xsd:string ; a owl:Class ; rdfs:label "tinea barbae"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_523103 obo:NCBITaxon_63417 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002027 ] . obo:DOID_0050097 obo:IAO_0000115 "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050097"^^xsd:string ; a owl:Class ; rdfs:label "ectothrix infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_421, obo:DOID_4337, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_63417 obo:NCBITaxon_63418 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002076 ] . obo:DOID_0050098 obo:IAO_0000115 "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050098"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum audouinii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050099 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050099"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum canis tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050100 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050100"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum distortum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050101 obo:IAO_0000115 "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum ferrugineum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050102 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum gypseum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050103 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum nanum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050104 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton verrucosum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050105 obo:IAO_0000115 "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050105"^^xsd:string ; a owl:Class ; rdfs:label "endothrix infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_421, obo:DOID_4337, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002076 ] . obo:DOID_0050106 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton soudanense tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050107 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton tonsurans tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050108 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton violaceum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050110 obo:IAO_0000115 "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton schoenleinii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050111 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum fulvum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050112 obo:IAO_0000115 "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050112"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton megninii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050113 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton equinum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050115 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton yaoundei tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050116 obo:IAO_0000115 "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050116"^^xsd:string ; a owl:Class ; rdfs:label "tinea imbricata"^^xsd:string ; rdfs:subClassOf obo:DOID_12179, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_63419 ] . obo:DOID_0050117 obo:IAO_0000115 "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions."^^xsd:string ; obo:OBI_9991118 "infectious disease"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10115"^^xsd:string, "DOID:11078"^^xsd:string, "DOID:1304"^^xsd:string, "DOID:1321"^^xsd:string, "DOID:2040"^^xsd:string, "DOID:2288"^^xsd:string, "DOID:3099"^^xsd:string, "DOID:4120"^^xsd:string, "DOID:4620"^^xsd:string, "DOID:5256"^^xsd:string, "DOID:945"^^xsd:string, "DOID:95"^^xsd:string, "DOID:9532"^^xsd:string, "DOID:9696"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:079.0"^^xsd:string, "UMLS_CUI:C0001485"^^xsd:string ; oboInOwl:hasExactSynonym "infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050117"^^xsd:string ; oboInOwl:inSubset doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "DO:wk"^^xsd:string ; rdfs:label "disease by infectious agent"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] ) ] . obo:DOID_0050118 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10840"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.5"^^xsd:string, "ICD9CM:062.5"^^xsd:string, "MESH:D004670"^^xsd:string, "SNOMEDCT_US_2021_03_01:69627004"^^xsd:string, "UMLS_CUI:C0014053"^^xsd:string ; oboInOwl:hasExactSynonym "California Encephalitis"@en, "California virus encephalitis"@en, "Neuroinvasive California encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050118"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "La Crosse encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11577 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7162 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050119 obo:IAO_0000115 "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder."^^xsd:string ; oboInOwl:hasExactSynonym "WNND"@en, "WNNS"@en, "West nile neuroinvasive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050119"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete West Nile virus neurological syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050120 obo:IAO_0000115 "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6453"^^xsd:string ; oboInOwl:hasDbXref "GARD:6589"^^xsd:string, "ICD10CM:D76.1"^^xsd:string, "MESH:D051359"^^xsd:string, "NCI:C34792"^^xsd:string, "OMIM:PS267700"^^xsd:string, "ORDO:540"^^xsd:string, "SNOMEDCT_US_2021_03_01:190958003"^^xsd:string, "UMLS_CUI:C0024291"^^xsd:string ; oboInOwl:hasExactSynonym "haemophagocytic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050120"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]."""^^xsd:string ; rdfs:label "hemophagocytic lymphohistiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_75, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_0050123 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050123"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050125 obo:IAO_0000115 "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth."^^xsd:string ; oboInOwl:hasExactSynonym "DSS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050125"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue shock syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000059 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ] . obo:DOID_0050126 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string ; oboInOwl:hasExactSynonym "valtice fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tahyna virus infection"@en ; oboInOwl:id "DOID:0050126"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Tahyna virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050127 obo:IAO_0000115 "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2052"^^xsd:string, "DOID:9564"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01"^^xsd:string, "ICD9CM:461"^^xsd:string, "NCI:C128411"^^xsd:string, "SNOMEDCT_US_2021_03_01:195649005"^^xsd:string, "UMLS_CUI:C0149512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1352, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050129 obo:IAO_0000115 "Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050129"^^xsd:string ; a owl:Class ; rdfs:label "secretory diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050130 obo:IAO_0000115 "Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050130"^^xsd:string ; a owl:Class ; rdfs:label "osmotic diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050131 obo:IAO_0000115 "Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050131"^^xsd:string ; a owl:Class ; rdfs:label "motility-related diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050132 obo:IAO_0000115 "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050132"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050133 obo:IAO_0000115 "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13370"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.9"^^xsd:string, "MESH:D010854"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "SNOMEDCT_US_2021_03_01:47382004"^^xsd:string, "UMLS_CUI:C0031898"^^xsd:string, "UMLS_CUI:C2980104"^^xsd:string ; oboInOwl:hasExactSynonym "Steroid-modified tinea infection"@en, "piedra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050133"^^xsd:string ; a owl:Class ; rdfs:comment "Adding a UMLS CUI for piedra C2980104."^^xsd:string ; rdfs:label "superficial mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050134 obo:IAO_0000115 "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050134"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050135 obo:IAO_0000115 "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050135"^^xsd:string ; a owl:Class ; rdfs:label "subcutaneous mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0002072 ) ] ] . obo:DOID_0050136 obo:IAO_0000115 "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050136"^^xsd:string ; a owl:Class ; rdfs:label "systemic mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564 . obo:DOID_0050138 obo:IAO_0000115 "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050138"^^xsd:string ; a owl:Class ; rdfs:label "podoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4976 . obo:DOID_0050139 obo:IAO_0000115 "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050139"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Opisthorchis felineus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050140 obo:IAO_0000115 "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050140"^^xsd:string ; a owl:Class ; rdfs:label "acute diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050141 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050141"^^xsd:string ; a owl:Class ; rdfs:label "intestinal botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ] . obo:DOID_0050143 obo:IAO_0000115 "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050143"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "asymptomatic dengue"^^xsd:string ; rdfs:subClassOf obo:DOID_12205 . obo:DOID_0050144 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development."^^xsd:string ; oboInOwl:hasDbXref "GARD:6815"^^xsd:string, "MESH:D007619"^^xsd:string, "NCI:C84797"^^xsd:string, "ORDO:98861"^^xsd:string, "SNOMEDCT_US_2020_03_01:42402006"^^xsd:string ; oboInOwl:hasExactSynonym "Kartagener's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050144"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kartagener syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0050145 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13750"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.02"^^xsd:string, "ICD9CM:474.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:195794009"^^xsd:string, "UMLS_CUI:C0396023"^^xsd:string ; oboInOwl:hasExactSynonym "chronic adenoiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050145"^^xsd:string ; a owl:Class ; rdfs:label "adenoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0050147 obo:IAO_0000115 "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans."^^xsd:string ; oboInOwl:hasDbXref "MESH:D059249"^^xsd:string ; oboInOwl:hasExactSynonym "Singapore ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050147"^^xsd:string ; a owl:Class ; rdfs:label "otomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_0050148 obo:IAO_0000115 "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11795"^^xsd:string, "DOID:9390"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J04"^^xsd:string, "ICD10CM:J37.1"^^xsd:string, "ICD9CM:464"^^xsd:string, "ICD9CM:476.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:276443001"^^xsd:string, "SNOMEDCT_US_2021_03_01:83271005"^^xsd:string, "UMLS_CUI:C0155811"^^xsd:string, "UMLS_CUI:C0155837"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050148"^^xsd:string ; a owl:Class ; rdfs:label "laryngotracheitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0050150 obo:IAO_0000115 "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050150"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Pontiac fever"^^xsd:string ; rdfs:subClassOf obo:DOID_10458, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_0050151 obo:IAO_0000115 "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050151"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tracheobronchial tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050152 obo:IAO_0000115 "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J69.0"^^xsd:string, "MESH:D011015"^^xsd:string, "SNOMEDCT_US_2021_03_01:47839005"^^xsd:string, "UMLS_CUI:C0032290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050152"^^xsd:string ; a owl:Class ; rdfs:label "aspiration pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ] . obo:DOID_0050153 obo:IAO_0000115 "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050153"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary aspergilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_13564, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050154 obo:IAO_0000115 "A bacterial pneumonia caused by the genus Mycoplasma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050154"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete mycoplasmal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050155 obo:IAO_0000115 "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050155"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:DO_GXD_slim ; a owl:Class ; rdfs:label "sensory system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0050156 obo:IAO_0000115 "A pulmonary fibrosis that is characterized by scarring of the lung."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000768"^^xsd:string, "GARD:8609"^^xsd:string, "ICD10CM:J84.112"^^xsd:string, "ICD9CM:516.31"^^xsd:string, "MESH:D054990"^^xsd:string, "NCI:C35716"^^xsd:string, "OMIM:178500"^^xsd:string, "SNOMEDCT_US_2021_03_01:28168000"^^xsd:string, "UMLS_CUI:C1800706"^^xsd:string ; oboInOwl:hasExactSynonym "FIBROCYSTIC PULMONARY DYSPLASIA"@en, "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL"@en, "cryptogenic fibrosing alveolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "idiopathic pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:HP_0006530 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:HP_0100699 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] ] . obo:DOID_0050157 obo:IAO_0000115 "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2798"^^xsd:string ; oboInOwl:hasDbXref "GARD:1620"^^xsd:string, "ICD10CM:J84.116"^^xsd:string, "ICD9CM:516.36"^^xsd:string, "MESH:D018549"^^xsd:string, "NCI:C62586"^^xsd:string, "SNOMEDCT_US_2021_03_01:129458007"^^xsd:string, "UMLS_CUI:C0242770"^^xsd:string ; oboInOwl:hasExactSynonym "BOOP"@en, "Cryptogenic organising pneumonitis"@en, "Cryptogenic organizing pneumonitis"@en, "bronchiolitis obliterans organising pneumonia"@en, "bronchiolitis obliterans organizing pneumonia"@en, "cryptogenic organising pneumonia"@en, "idiopathic bronchiolitis obliterans with organising pneumonia"@en, "idiopathic bronchiolitis obliterans with organizing pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cryptogenic organizing pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050158 obo:IAO_0000115 "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2796"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.117"^^xsd:string, "ICD9CM:516.37"^^xsd:string, "MESH:C562470"^^xsd:string, "NCI:C35288"^^xsd:string, "OMIM:263000"^^xsd:string, "SNOMEDCT_US_2021_03_01:8549006"^^xsd:string, "UMLS_CUI:C0238378"^^xsd:string ; oboInOwl:hasExactSynonym "RBILD"@en, "familial desquamative interstitial pneumonitis"@en, "respiratory bronchiolitis-associated interstitial lung disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050158"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "desquamative interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797 . obo:DOID_0050159 obo:IAO_0000115 "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050159"^^xsd:string ; a owl:Class ; rdfs:label "lymphoid interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050160 obo:IAO_0000115 "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary anthrax"@en, "respiratory anthrax"@en, "wool-sorters' disease"@en, "woolsorters' disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050160"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "inhalation anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_7427, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050161 obo:IAO_0000115 "A respiratory system disease which involves the lower respiratory tract."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:478.19"^^xsd:string, "SNOMEDCT_US_2021_03_01:195823002"^^xsd:string, "UMLS_CUI:C0029581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050161"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "lower respiratory tract disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001558 ] ) ] . obo:DOID_0050162 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050162"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza encephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_0050163 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050164 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050164"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza myositis"^^xsd:string ; owl:deprecated true . obo:DOID_0050165 obo:IAO_0000115 "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050165"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous mesenteric gland"^^xsd:string ; owl:deprecated true . obo:DOID_0050166 obo:IAO_0000115 "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.17"^^xsd:string, "ICD9CM:016.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:186242002"^^xsd:string, "UMLS_CUI:C0152828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050166"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1962, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] . obo:DOID_0050167 obo:IAO_0000115 "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:8466"^^xsd:string, "OMIM:240300"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune Polyglandular Syndrome I"@en, "Whitaker syndrome"@en, "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050167"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune polyendocrine syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14040 . obo:DOID_0050168 obo:IAO_0000115 "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:7611"^^xsd:string, "OMIM:269200"^^xsd:string ; oboInOwl:hasExactSynonym "Schmidt syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050168"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune polyendocrine syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14040 . obo:DOID_0050169 obo:IAO_0000115 "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight."^^xsd:string ; oboInOwl:hasDbXref "GARD:6225"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050169"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8857 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8857 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_0050170 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050170"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Jamestown Canyon encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050171 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050171"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete snowshoe hare encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050172 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050172"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete trivittatus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050173 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050173"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete inkoo encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050174 obo:IAO_0000115 "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050174"^^xsd:string ; a owl:Class ; rdfs:label "Kunjin encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11077 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_162997 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ] . obo:DOID_0050175 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050176"^^xsd:string, "DOID:10251"^^xsd:string, "DOID:10252"^^xsd:string ; oboInOwl:hasDbXref "GARD:5216"^^xsd:string, "ICD10CM:A84.1"^^xsd:string, "ICD9CM:063.2"^^xsd:string, "MESH:D004675"^^xsd:string, "SNOMEDCT_US_2021_03_01:16901001"^^xsd:string, "UMLS_CUI:C0014054"^^xsd:string ; oboInOwl:hasExactSynonym "Central European encephalitis"@en, "Far Eastern TBE"@en, "Russian spring-summer encephalitis"@en, "Siberian tick-borne encephalitis"@en, "Taiga encephalitis"@en, "Western European tick-borne encephalitis"@en, "west-Siberian encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050175"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "tick-borne encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11084 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6944 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ] . obo:DOID_0050177 obo:IAO_0000115 "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050177"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim ; a owl:Class ; rdfs:label "monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_630 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ) ] . obo:DOID_0050178 obo:IAO_0000115 "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050178"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complex genetic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050179 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050179"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Powassan encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050175, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11083 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000124 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050180 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050180"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete Colorado tick fever encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050181 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050181"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050182 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8698"^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster encephalitis"@en, "Postchickenpox encephalitis"@en, "Varicella Zoster Encephalitis"@en, "postvaricella encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicella-zoster virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050183 obo:IAO_0000115 "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050183"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Epstein-Barr virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050184 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9127"^^xsd:string ; oboInOwl:hasExactSynonym "Post measles encephalitis (disorder)"@en, "Post-measles encephalitis"@en, "postmeasles encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050184"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050185 obo:IAO_0000115 "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness."^^xsd:string ; oboInOwl:hasDbXref "GARD:6372"^^xsd:string, "MESH:D004892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050185"^^xsd:string ; a owl:Class ; rdfs:label "erythema multiforme"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0050186 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050186"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050187 obo:IAO_0000115 "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9231"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050187"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050188 obo:IAO_0000115 "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050188"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackievirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050189 obo:IAO_0000115 "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050189"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polioencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050190 obo:IAO_0000115 "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050190"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050191 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050191"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050192 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050192"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Nipah virus encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0050193 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050193"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050194 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050194"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Argentine hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2169991 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_56212 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000317 ] . obo:DOID_0050195 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050195"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Bolivian hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11628 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_56210 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000867 ] . obo:DOID_0050196 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050196"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Venezuelan hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_45219 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_134742 obo:NCBITaxon_157541 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000323 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000448 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000756 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019147 ] . obo:DOID_0050197 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050197"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brazilian hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2169992 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0050198 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050198"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Chapare hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_499556 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050199 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050199"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Whitewater Arroyo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_46919 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_42408 ] . obo:DOID_0050200 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050200"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Korean hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10116 obo:NCBITaxon_39030 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000059 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050201 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050201"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "nephropathia epidemica"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_447135 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050202 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050202"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "lujo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0050203 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050203"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050204 obo:IAO_0000115 "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050204"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Epstein-Barr virus hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1884, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10376 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ] . obo:DOID_0050205 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050205"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050206 obo:IAO_0000115 "An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050206"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050207 obo:IAO_0000115 "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050207"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050208 obo:IAO_0000115 "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050208"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete yellow fever hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050209 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050209"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050210 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicella-zoster virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050211 obo:IAO_0000115 "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050211"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "swine influenza"^^xsd:string ; rdfs:subClassOf obo:DOID_8469, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_11320 obo:NCBITaxon_11552 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050212 obo:IAO_0000115 "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "Campylobacter Gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050212"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter jejuni gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050213 obo:IAO_0000115 "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050213"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050214 obo:IAO_0000115 "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G70.80"^^xsd:string, "ICD9CM:358.3"^^xsd:string, "MESH:D015624"^^xsd:string, "NCI:C3155"^^xsd:string, "SNOMEDCT_US_2021_03_01:230688006"^^xsd:string, "UMLS_CUI:C0022972"^^xsd:string ; oboInOwl:hasExactSynonym "Eaton-Lambert syndrome"@en, "LEMS"@en, "Lambert-Eaton syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050214"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Lambert-Eaton myasthenic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_0060033, obo:DOID_439, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0050215 obo:IAO_0000115 "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcus Aureus Gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050215"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Staphylococcus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050216 obo:IAO_0000115 "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050216"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacillus cereus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050217 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050217"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sapovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050218 obo:IAO_0000115 "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver."^^xsd:string ; oboInOwl:hasExactSynonym "human polycystic hydatid disease"@en, "neotropical echinococcosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050218"^^xsd:string ; a owl:Class ; rdfs:label "polycystic echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1496, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_0050219 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050219"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hepeviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050220 obo:IAO_0000115 "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission."^^xsd:string ; oboInOwl:hasExactSynonym "Q fever pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050220"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Coxiella burnetii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050221 obo:IAO_0000115 "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice."^^xsd:string ; oboInOwl:hasExactSynonym "Q fever hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050221"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Coxiella burnetii hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050222 obo:IAO_0000115 "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050222"^^xsd:string ; a owl:Class ; rdfs:label "selective IgM deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_0050223 obo:IAO_0000115 "A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050223"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050224 obo:IAO_0000115 "A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050224"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Helicobacter heilmannii infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050225 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050225"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050226 obo:IAO_0000115 "An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050226"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Morganella morganii intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050227 obo:IAO_0000115 "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050227"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio cholerae O139 cholera"^^xsd:string ; owl:deprecated true . obo:DOID_0050228 obo:IAO_0000115 "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Entamoeba histolytica dysentery"@en, "amebic dysentery"@en, "amoebic dysentery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amebic dysentery"^^xsd:string ; owl:deprecated true . obo:DOID_0050229 obo:IAO_0000115 "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050229"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli dysentery"^^xsd:string ; owl:deprecated true . obo:DOID_0050230 obo:IAO_0000115 "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050230"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050231 obo:IAO_0000115 "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatic capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050232 obo:IAO_0000115 "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050233 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050233"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Balamuthia mandrillaris infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050234 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11334"^^xsd:string ; oboInOwl:hasExactSynonym "free-living ameba infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050234"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthamoeba infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050235 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050235"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Alveolata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050236 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050236"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Heterolobosea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050237 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050237"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Euglenozoa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050238 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Parabasalia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050239 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fornicata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050240 obo:IAO_0000115 "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonadida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050241 obo:IAO_0000115 "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050241"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tritrichomonadida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050242 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma."^^xsd:string ; oboInOwl:hasDbXref "GARD:9554"^^xsd:string ; oboInOwl:hasExactSynonym "Naegleria fowleri infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050242"^^xsd:string ; a owl:Class ; rdfs:label "primary amebic meningoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, obo:DOID_331, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2789 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_0050243 obo:IAO_0000115 "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050243"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Apicomplexa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050244 obo:IAO_0000115 "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050244"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Coccidia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050245 obo:IAO_0000115 "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Aconoidasida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050246 obo:IAO_0000115 "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death."^^xsd:string ; oboInOwl:hasDbXref "GARD:12651"^^xsd:string ; oboInOwl:hasExactSynonym "Acanthamoeba encephalitis"@en, "Acanthamoeba granulomatous encephalitis"@en, "Granulomatous Amebic Encephalitis due to Acanthamoeba"@en, "granulomatous amoebic encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050246"^^xsd:string ; a owl:Class ; rdfs:label "granulomatous amebic encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050242, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050247 obo:IAO_0000115 "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050247"^^xsd:string ; a owl:Class ; rdfs:label "obsolete parasitic stramenopiles infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050249 obo:IAO_0000115 "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050249"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Brugia timori filariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050250 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050250"^^xsd:string ; a owl:Class ; rdfs:label "philophthalmiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0050251 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050251"^^xsd:string ; a owl:Class ; rdfs:label "coenurosis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_37, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050252 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Dipylidium caninum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050253 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050253"^^xsd:string ; a owl:Class ; rdfs:label "mesocestoidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050254 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050254"^^xsd:string ; a owl:Class ; rdfs:label "acanthocephaliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000229 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050255 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Uncinaria stenocephala infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050256 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis."^^xsd:string ; oboInOwl:hasDbXref "GARD:683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050256"^^xsd:string ; a owl:Class ; rdfs:label "angiostrongyliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_5295, obo:DOID_5614, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6312 ] . obo:DOID_0050257 obo:IAO_0000115 "An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Angiostrongylus cantonensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050258 obo:IAO_0000115 "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050258"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Angiostrongylus costaricensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050259 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050259"^^xsd:string ; a owl:Class ; rdfs:label "baylisascariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_5295, obo:DOID_5614, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ] . obo:DOID_0050260 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050260"^^xsd:string ; a owl:Class ; rdfs:label "dioctophymiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_557, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_0050261 obo:IAO_0000115 "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050261"^^xsd:string ; a owl:Class ; rdfs:label "thelaziasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_0050262 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050262"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acoelomata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050263 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pseudocoelomata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050264 obo:IAO_0000115 "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050264"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthocephala infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050265 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tick paralysis"^^xsd:string ; owl:deprecated true . obo:DOID_0050266 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo."^^xsd:string ; oboInOwl:hasDbXref "GARD:393"^^xsd:string, "MESH:D058285"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050266"^^xsd:string ; a owl:Class ; rdfs:label "tungiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_0050267 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050267"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma caninum ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050268 obo:IAO_0000115 "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050268"^^xsd:string ; a owl:Class ; rdfs:label "ophthalmomyiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_11080, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0050269 obo:IAO_0000115 "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A59.00"^^xsd:string, "MESH:D014247"^^xsd:string, "NCI:C35083"^^xsd:string ; oboInOwl:hasExactSynonym "urogenital trichomonas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050269"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Trichomonas vaginalis trichomoniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_121, obo:DOID_1947, obo:DOID_2059, obo:DOID_2253, obo:DOID_732, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5722 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050270 obo:IAO_0000115 "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050270"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Trichomonas tenax trichomoniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1947, obo:DOID_403, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_43075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000011 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] . obo:DOID_0050271 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050271"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050272 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050272"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050273 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050273"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Neoscytalidium dimidiatum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050274 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scopulariopsis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050275 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050275"^^xsd:string ; a owl:Class ; rdfs:label "obsolete onychomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050276 obo:IAO_0000115 "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050276"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subcutaneous ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050277 obo:IAO_0000115 "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050277"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subcutaneous fungi incertae sedis mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050278 obo:IAO_0000115 "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050278"^^xsd:string ; a owl:Class ; rdfs:label "basidiobolomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050135 . obo:DOID_0050279 obo:IAO_0000115 "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050279"^^xsd:string ; a owl:Class ; rdfs:label "conidiobolomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050135 . obo:DOID_0050280 obo:IAO_0000115 "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050280"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050281 obo:IAO_0000115 "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050281"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050282 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050282"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary systemic ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050283 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050283"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Stachybotrys infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050284 obo:IAO_0000115 "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050285 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050285"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050286 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic fungi incertae sedis mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050287 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic microsporidia mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050288 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050288"^^xsd:string ; a owl:Class ; rdfs:label "penicilliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37727 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0050289 obo:IAO_0000115 "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060585"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050289"^^xsd:string ; a owl:Class ; rdfs:label "fusariosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0050290 obo:IAO_0000115 "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060586"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050290"^^xsd:string ; a owl:Class ; rdfs:label "trichosporonosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5552 ] . obo:DOID_0050291 obo:IAO_0000115 "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050291"^^xsd:string ; a owl:Class ; rdfs:label "parasitic Ichthyosporea infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1398 . obo:DOID_0050292 obo:IAO_0000115 "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050292"^^xsd:string ; a owl:Class ; rdfs:label "primary systemic mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050136, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050293 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050293"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scopulariopsis brevicaulis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050294 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050294"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scytalidium hyalinum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050295 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain."^^xsd:string ; oboInOwl:hasExactSynonym "plaque sporotrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050296 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Asfarviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050297 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050297"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Francisellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050298 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3123"^^xsd:string, "DOID:3124"^^xsd:string ; oboInOwl:hasExactSynonym "Adenoviridae infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050298"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050299 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050299"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Simplexvirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050300 obo:IAO_0000115 "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050300"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Deltavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050301 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Polyomaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050302 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050302"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicellovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050303 obo:IAO_0000115 "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050303"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hepacivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050304 obo:IAO_0000115 "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050304"^^xsd:string ; a owl:Class ; rdfs:label "aniseikonia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_0050305 obo:IAO_0000115 "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050305"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Arteriviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050306 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050306"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete familial abdominal aortic aneurysm"^^xsd:string ; owl:deprecated true . obo:DOID_0050307 obo:IAO_0000115 "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Bornaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050308 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050308"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Alkhurma hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11320, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_172148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_69826 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050309 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050310 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050310"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Listeriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050311 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050311"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Helicobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050312 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050312"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Campylobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050313 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050313"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Brucellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050314 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050314"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Erysipelotrichaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050315 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050315"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Clostridiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050316 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050316"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Staphylococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050317 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050317"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Streptococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050318 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050318"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Burkholderiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050319 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050319"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Legionellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050320 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050320"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Alcaligenaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050321 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050321"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Pseudomonadaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050322 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050322"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Vibrionaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050323 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050323"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Coxiellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050324 obo:IAO_0000115 "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete physical disorder OBSOLETED TERM"^^xsd:string ; owl:deprecated true . obo:DOID_0050325 obo:IAO_0000115 "A medical disorder that is an illness caused by abnormalities in genes or chromosomes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete genetic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0050327 oboInOwl:hasExactSynonym "Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050327"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete peripheral dysostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050328 obo:IAO_0000115 "A hypothyroidism that is present at birth."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11631"^^xsd:string, "DOID:11632"^^xsd:string ; oboInOwl:hasDbXref "GARD:1487"^^xsd:string, "ICD10CM:E00.1"^^xsd:string, "ICD10CM:E03.1"^^xsd:string, "ICD9CM:243"^^xsd:string, "MESH:D003409"^^xsd:string, "NCI:C26734"^^xsd:string, "NCI:C98921"^^xsd:string, "OMIM:PS275200"^^xsd:string, "SNOMEDCT_US_2021_03_01:217710005"^^xsd:string, "SNOMEDCT_US_2021_03_01:75065003"^^xsd:string, "UMLS_CUI:C0010308"^^xsd:string, "UMLS_CUI:C0342200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1459, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050329 obo:IAO_0000115 "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050329"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mental disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0050331 obo:IAO_0000115 "A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes."^^xsd:string ; oboInOwl:hasDbXref "OMIM:149730"^^xsd:string ; oboInOwl:hasExactSynonym "LEVY-HOLLISTER SYNDROME"@en, "lacrimoauriculodentodigital syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050331"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "LADD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050332 obo:IAO_0000115 "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts."^^xsd:string ; oboInOwl:hasDbXref "GARD:8651"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050332"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "enlarged vestibular aqueduct"^^xsd:string ; rdfs:subClassOf obo:DOID_3426 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3426 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002279 ] ) ] . obo:DOID_0050333 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050333"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital anosmia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0050334 oboInOwl:hasExactSynonym "PHENYLTHIOCARBAMIDE TASTING, INCLUDED"@en, "PROPYLTHIOURACIL TASTING, INCLUDED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thiourea tasting"^^xsd:string ; owl:deprecated true . obo:DOID_0050335 obo:IAO_0000115 "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:12299"^^xsd:string, "MESH:C564243"^^xsd:string, "OMIM:608415"^^xsd:string, "ORDO:75374"^^xsd:string, "SNOMEDCT_US_2021_03_01:711163009"^^xsd:string, "UMLS_CUI:C1842073"^^xsd:string ; oboInOwl:hasExactSynonym "prolonged electroretinal response suppression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050335"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bradyopsia"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_0050336 obo:IAO_0000115 "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017674"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050336"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2485 . obo:DOID_0050337 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050337"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Burkholderia cepacia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050338 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050338"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "primary bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050339 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050339"^^xsd:string ; a owl:Class ; rdfs:label "commensal bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050340 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050340"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "opportunistic bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050341 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050341"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Actinomycetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050342 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050342"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Actinomycetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050343 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050343"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Gardnerella vaginalis vaginosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050344 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050344"^^xsd:string ; a owl:Class ; rdfs:label "obsolete commensal Bifidobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050345 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050345"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Thermomonosporaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050346"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Corynebacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050347 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050347"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050348 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050348"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Streptomycetaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050349 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050349"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Nocardiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050350 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050350"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Clostridiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050351 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050351"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Clostridium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050352 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050352"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "foodborne botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000258 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000414 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000704 ] . obo:DOID_0050353 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050353"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "wound botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050354 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050354"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "infant botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050355 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050355"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Burkholderiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050357 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050357"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Burkholderia cenocepacia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050358 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050358"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Chlamydiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050359 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050359"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bilophila wadsworthia necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050360 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050360"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Enterobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050361 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050361"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Enterobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050362 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050362"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Elizabethkingia meningoseptica infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050363 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050363"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050364 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050364"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Flavobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050365 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050365"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chryseobacterium indologenes infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050366 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050366"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Empedobacter brevis endophthalmitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050367 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050367"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Myroides odoratus necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050368 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050368"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Fusobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050369 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050369"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycoplasmataceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050370 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050370"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Neisseriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050371 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050371"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Pasteurellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050372 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050372"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Haemophilus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050373 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050373"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Leptospiraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050374 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050374"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Spirochaetaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050375 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050375"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Spirillaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050376 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050376"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete anaplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050377 oboInOwl:hasAlternativeId "DOID:0050356"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050377"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkholderia cepacia complex infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050378"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Campylobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050379 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050379"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter fetus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050380 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050380"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050381 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050381"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis epididymitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050382 obo:IAO_0000115 "A tularemia that results_in swelling of regional lymph glands."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050382"^^xsd:string ; a owl:Class ; rdfs:label "glandular tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123 . obo:DOID_0050383 obo:IAO_0000115 "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050383"^^xsd:string ; a owl:Class ; rdfs:label "typhoidal tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050384 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050384"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Helicobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050385 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050385"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Helicobacter infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050386 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050386"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Acinetobacter baumannii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050387 obo:IAO_0000115 "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences."^^xsd:string ; oboInOwl:hasDbXref "OMIM:144700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050387"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nonpapillary renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4455 . obo:DOID_0050388 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050388"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacteroides fragilis peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050389 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050389"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050390 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050390"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050391 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050391"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Elizabethkingia meningoseptica meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050392 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050392"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050393 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050393"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chryseobacterium indologenes pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050394 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050394"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050395 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050395"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial cellulitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050396 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050396"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050397 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050397"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cerebral Bilophila wadsworthia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050398 obo:IAO_0000115 "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed."^^xsd:string ; oboInOwl:hasExactSynonym "Carrion disease"@en, "Oroya fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050398"^^xsd:string ; a owl:Class ; rdfs:label "Carrion's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_774 ] . obo:DOID_0050399 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050399"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bordetella pertussis whooping cough"^^xsd:string ; owl:deprecated true . obo:DOID_0050400 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050400"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas urinary tract infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050401 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050401"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050402 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050402"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050403 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050403"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasmatales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050404 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050404"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasmataceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050405 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050405"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycoplasma genitalium urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050406 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050406"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050407 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050407"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasma infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050408 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050408"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus ecthyma"^^xsd:string ; owl:deprecated true . obo:DOID_0050409 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050409"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus pyogenes ecthyma"^^xsd:string ; owl:deprecated true . obo:DOID_0050410 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050410"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal erysipelas"^^xsd:string ; owl:deprecated true . obo:DOID_0050411 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050411"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus erysipelas"^^xsd:string ; owl:deprecated true . obo:DOID_0050412 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050412"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus impetigo"^^xsd:string ; owl:deprecated true . obo:DOID_0050413 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050413"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus impetigo"^^xsd:string ; owl:deprecated true . obo:DOID_0050414 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050414"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus lymphangitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050415 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050415"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus lymphangitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050416 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050416"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus agalactiae meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050417 oboInOwl:hasExactSynonym "Streptococcus dysgalactiae subsp. equisimilis meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050417"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus equisimilis meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050418 oboInOwl:hasExactSynonym "Streptococcus equi subsp. zooepidemicus meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050418"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus zooepidemicus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050419 obo:IAO_0000115 "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency."^^xsd:string ; oboInOwl:hasDbXref "MESH:C572568"^^xsd:string, "OMIM:610984"^^xsd:string ; oboInOwl:hasExactSynonym "C3 INACTIVATOR DEFICIENCY"@en, "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050419"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "complement factor I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0050420 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050420"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Streptococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050421 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050421"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary streptococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050422 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050422"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pseudotuberculosis gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050423 oboInOwl:hasExactSynonym "enteroaggregative E.coli infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enteroaggregative Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050424 obo:IAO_0000115 "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer."^^xsd:string ; oboInOwl:hasDbXref "GARD:6408"^^xsd:string, "MESH:D011125"^^xsd:string, "NCI:C3339"^^xsd:string, "OMIM:PS175100"^^xsd:string, "ORDO:733"^^xsd:string, "SNOMEDCT_US_2021_03_01:72900001"^^xsd:string, "UMLS_CUI:C0032580"^^xsd:string ; oboInOwl:hasExactSynonym "adenomatous polyposis of the colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050424"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial adenomatous polyposis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050425 obo:IAO_0000115 "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004270"^^xsd:string, "GARD:11926"^^xsd:string, "ICD10CM:G25.81"^^xsd:string, "ICD9CM:333.94"^^xsd:string, "MESH:D012148"^^xsd:string, "NCI:C84501"^^xsd:string, "OMIM:PS102300"^^xsd:string, "SNOMEDCT_US_2021_03_01:32914008"^^xsd:string, "UMLS_CUI:C0035258"^^xsd:string ; oboInOwl:hasExactSynonym "WED"@en, "Willis-Ekbom disease"@en, "Wittmaack-Ekbom syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050425"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "restless legs syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_0050426 obo:IAO_0000115 "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004276"^^xsd:string, "GARD:7700"^^xsd:string, "ICD10CM:L51.1"^^xsd:string, "ICD9CM:695.13"^^xsd:string, "MESH:D013262"^^xsd:string, "NCI:C79484"^^xsd:string, "SNOMEDCT_US_2021_03_01:73442001"^^xsd:string, "UMLS_CUI:C0038325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050426"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Stevens-Johnson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; skos:exactMatch "MESH:D013262"^^xsd:string . obo:DOID_0050427 obo:IAO_0000115 "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair."^^xsd:string ; oboInOwl:hasDbXref "GARD:7910"^^xsd:string, "ICD10CM:Q82.1"^^xsd:string, "MESH:D014983"^^xsd:string, "NCI:C3452"^^xsd:string, "ORDO:910"^^xsd:string, "SNOMEDCT_US_2021_03_01:44600005"^^xsd:string, "UMLS_CUI:C0043346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050427"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "xeroderma pigmentosum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050428 obo:IAO_0000115 "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015776"^^xsd:string, "NCI:C3147"^^xsd:string, "OMIM:600962"^^xsd:string, "OMIM:613000"^^xsd:string, "OMIM:615735"^^xsd:string, "ORDO:2337"^^xsd:string, "SNOMEDCT_US_2021_03_01:81206005"^^xsd:string, "UMLS_CUI:C0022584"^^xsd:string, "UMLS_CUI:C3489771"^^xsd:string ; oboInOwl:hasExactSynonym "Thost-Unna Syndrome"@en, "Unna-Thost Syndrome"@en, "diffuse nonepidermolytic palmomplantar keratoderma"@en, "tylosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050428"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0050429 obo:IAO_0000115 "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:6559"^^xsd:string, "ICD10CM:Q82.8"^^xsd:string, "MESH:D016506"^^xsd:string, "NCI:C82865"^^xsd:string, "OMIM:169600"^^xsd:string, "SNOMEDCT_US_2021_03_01:79468000"^^xsd:string, "UMLS_CUI:C0085106"^^xsd:string ; oboInOwl:hasExactSynonym "BENIGN CHRONIC PEMPHIGUS"@en, "Pemphigus, Benign Familial"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050429"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hailey-Hailey disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9182, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050430 obo:IAO_0000115 "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E31.22"^^xsd:string, "ICD9CM:258.02"^^xsd:string, "MESH:D018813"^^xsd:string, "NCI:C3226"^^xsd:string, "OMIM:171400"^^xsd:string, "ORDO:247698"^^xsd:string, "SNOMEDCT_US_2021_03_01:721188000"^^xsd:string, "UMLS_CUI:C0025268"^^xsd:string ; oboInOwl:hasExactSynonym "MEN2A"@en, "Sipple syndrome"@en, "multiple endocrine neoplasia II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050430"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050431 obo:IAO_0000115 "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019571"^^xsd:string, "NCI:C84571"^^xsd:string, "OMIM:PS107970"^^xsd:string, "ORDO:217656"^^xsd:string, "ORDO:247"^^xsd:string, "SNOMEDCT_US_2021_03_01:281170005"^^xsd:string, "UMLS_CUI:C0349788"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC"@en, "ARVC cardiomyopathy"@en, "ARVD"@en, "arrhythmogenic right ventricular dysplasia"@en, "arrhythmogenic right ventricular dysplasia/cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050431"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "arrhythmogenic right ventricular cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_0050432 obo:IAO_0000115 "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development."^^xsd:string ; oboInOwl:hasDbXref "GARD:5855"^^xsd:string, "ICD10CM:F84.5"^^xsd:string, "MESH:D020817"^^xsd:string, "NCI:C97159"^^xsd:string, "OMIM:608631"^^xsd:string, "OMIM:608638"^^xsd:string, "OMIM:608781"^^xsd:string, "OMIM:609954"^^xsd:string, "ORDO:1162"^^xsd:string, "SNOMEDCT_US_2021_03_01:154879004"^^xsd:string, "UMLS_CUI:C0236792"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050432"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Asperger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041 . obo:DOID_0050433 obo:IAO_0000115 "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:6429"^^xsd:string, "ICD10CM:A81.83"^^xsd:string, "ICD9CM:046.72"^^xsd:string, "MESH:D034062"^^xsd:string, "NCI:C84711"^^xsd:string, "OMIM:600072"^^xsd:string, "SNOMEDCT_US_2021_03_01:83157008"^^xsd:string, "UMLS_CUI:C0206042"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fatal familial insomnia"^^xsd:string ; rdfs:subClassOf obo:DOID_649, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_0050434 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly."^^xsd:string ; oboInOwl:hasDbXref "GARD:9453"^^xsd:string, "MESH:D050030"^^xsd:string, "NCI:C84559"^^xsd:string, "OMIM:170390"^^xsd:string, "ORDO:37553"^^xsd:string, "SNOMEDCT_US_2021_03_01:422348008"^^xsd:string, "UMLS_CUI:C1563715"^^xsd:string ; oboInOwl:hasExactSynonym "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS"@en, "Andersen syndrome"@en, "LQT7"@en, "Long QT syndrome 7"@en, "Potassium-Sensitive Cardiodysrhythmic Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050434"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Andersen-Tawil syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000287 ] . obo:DOID_0050436 obo:IAO_0000115 "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:95"^^xsd:string, "MESH:D050336"^^xsd:string, "NCI:C84906"^^xsd:string, "OMIM:253250"^^xsd:string, "ORDO:2576"^^xsd:string, "SNOMEDCT_US_2021_03_01:81604003"^^xsd:string, "UMLS_CUI:C0524582"^^xsd:string ; oboInOwl:hasExactSynonym "MUL"@en, "Mulibrey growth disorder"@en, "Muscle-Liver-Brain-Eye Nanism"@en, "PERICARDIAL CONSTRICTION AND GROWTH FAILURE"@en, "Perheentupa Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mulibrey nanism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050437 obo:IAO_0000115 "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9730"^^xsd:string, "MESH:D052120"^^xsd:string, "NCI:C84735"^^xsd:string, "OMIM:300257"^^xsd:string, "SNOMEDCT_US_2021_03_01:419097006"^^xsd:string, "UMLS_CUI:C0878677"^^xsd:string ; oboInOwl:hasExactSynonym "ANTOPOL DISEASE"@en, "PSEUDOGLYCOGENOSIS II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Danon disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0050438 obo:IAO_0000115 "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:2375"^^xsd:string, "MESH:D052159"^^xsd:string, "NCI:C122805"^^xsd:string, "OMIM:136680"^^xsd:string, "SNOMEDCT_US_2021_03_01:445431000"^^xsd:string, "UMLS_CUI:C0950122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Frasier syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050439 obo:IAO_0000115 "A syndrome characterized by a combination of hearing loss and visual impairment."^^xsd:string ; oboInOwl:hasDbXref "GARD:7843"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C85217"^^xsd:string, "OMIM:PS276900"^^xsd:string, "ORDO:886"^^xsd:string, "SNOMEDCT_US_2021_03_01:57838006"^^xsd:string, "UMLS_CUI:C0271097"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050439"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "Usher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050440 obo:IAO_0000115 "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life."^^xsd:string ; oboInOwl:hasDbXref "GARD:11962"^^xsd:string, "MESH:D052496"^^xsd:string, "NCI:C165527"^^xsd:string, "NCI:C84708"^^xsd:string, "OMIM:PS151660"^^xsd:string, "ORDO:98306"^^xsd:string, "SNOMEDCT_US_2021_03_01:49292002"^^xsd:string, "SNOMEDCT_US_2021_03_01:715439000"^^xsd:string, "SNOMEDCT_US_2021_03_01:725035001"^^xsd:string, "UMLS_CUI:C0271694"^^xsd:string, "UMLS_CUI:C1720859"^^xsd:string, "UMLS_CUI:C1720860"^^xsd:string, "UMLS_CUI:C1720861"^^xsd:string ; oboInOwl:hasExactSynonym "Dunnigan Syndrome"@en, "Koberling-Dunnigan Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050440"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "familial partial lipodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080299 . obo:DOID_0050441 obo:IAO_0000115 "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.26"^^xsd:string, "MESH:D052517"^^xsd:string, "NCI:C84908"^^xsd:string, "OMIM:272200"^^xsd:string, "SNOMEDCT_US_2021_03_01:254076009"^^xsd:string, "SNOMEDCT_US_2021_03_01:54898003"^^xsd:string, "UMLS_CUI:C0268263"^^xsd:string, "UMLS_CUI:C1720864"^^xsd:string ; oboInOwl:hasExactSynonym "Sulfatidosis, Juvenile, Austin Type"@en, "multiple sulfatase deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050441"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucosulfatidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1927, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050444 obo:IAO_0000115 "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.1"^^xsd:string, "MESH:D052919"^^xsd:string, "NCI:C84789"^^xsd:string, "OMIM:266510"^^xsd:string, "SNOMEDCT_US_2021_03_01:238062008"^^xsd:string, "UMLS_CUI:C0282527"^^xsd:string ; oboInOwl:hasExactSynonym "infantile phytanic acid storage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050444"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "infantile Refsum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0050445 obo:IAO_0000115 "A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053098"^^xsd:string, "NCI:C85234"^^xsd:string, "OMIM:307800"^^xsd:string, "UMLS_CUI:C0733682"^^xsd:string, "UMLS_CUI:C1845168"^^xsd:string, "UMLS_CUI:C3540852"^^xsd:string ; oboInOwl:hasExactSynonym "Hypophosphatemia, Vitamin D-Resistant Rickets"@en, "Vitamin D-Resistant Rickets, X-Linked"@en, "X-linked hypophosphatemia"@en, "hypophosphatemic rickets X-linked dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked dominant hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0050448 obo:IAO_0000115 "A skin disease characterized by a defect in the normal process of keratinization of the mucosa."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053529"^^xsd:string, "NCI:C84760"^^xsd:string, "OMIM:193900"^^xsd:string, "OMIM:615785"^^xsd:string, "ORDO:171723"^^xsd:string, "SNOMEDCT_US_2021_03_01:85388002"^^xsd:string, "UMLS_CUI:C1721005"^^xsd:string ; oboInOwl:hasExactSynonym "white sponge nevus"@en, "white sponge nevus of Cannon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050448"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary mucosal leukokeratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0050449 obo:IAO_0000115 "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin."^^xsd:string ; oboInOwl:hasDbXref "GARD:10753"^^xsd:string, "MESH:D053549"^^xsd:string, "NCI:C84986"^^xsd:string, "OMIM:PS167200"^^xsd:string, "ORDO:2309"^^xsd:string, "SNOMEDCT_US_2021_03_01:39427000"^^xsd:string, "UMLS_CUI:C0265334"^^xsd:string, "UMLS_CUI:C1706595"^^xsd:string, "UMLS_CUI:C1721007"^^xsd:string ; oboInOwl:hasExactSynonym "Jackson-Lawler Type Pachyonychia Congenita"@en, "Jadassohn-Lewandowsky Syndrome"@en, "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE"@en, "Pachyonychia Congenita Type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pachyonychia congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050450 obo:IAO_0000115 "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)."^^xsd:string ; oboInOwl:hasDbXref "GARD:8547"^^xsd:string, "MESH:D053579"^^xsd:string, "NCI:C84730"^^xsd:string, "OMIM:263800"^^xsd:string, "SNOMEDCT_US_2021_03_01:3188003"^^xsd:string, "UMLS_CUI:C0268450"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gitelman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050451 obo:IAO_0000115 "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death."^^xsd:string ; oboInOwl:hasDbXref "GARD:1030"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "MESH:D053840"^^xsd:string, "NCI:C142891"^^xsd:string, "OMIM:PS601144"^^xsd:string, "ORDO:130"^^xsd:string, "SNOMEDCT_US_2021_03_01:418818005"^^xsd:string, "UMLS_CUI:C1142166"^^xsd:string, "UMLS_CUI:C1721096"^^xsd:string ; oboInOwl:hasExactSynonym "Bangungut"@en, "Brugada type idiopathic ventricular fibrillation"@en, "Dream disease"@en, "Pokkuri death syndrome"@en, "SUNDS"@en, "sudden unexplained nocturnal death syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050451"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brugada syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050452 obo:IAO_0000115 "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis."^^xsd:string ; oboInOwl:hasDbXref "GARD:3588"^^xsd:string, "ICD10CM:M04.1"^^xsd:string, "MESH:D054078"^^xsd:string, "NCI:C84890"^^xsd:string, "OMIM:610377"^^xsd:string, "ORDO:29"^^xsd:string, "SNOMEDCT_US_2021_03_01:124327008"^^xsd:string, "SNOMEDCT_US_2021_03_01:234538002"^^xsd:string, "UMLS_CUI:C0342731"^^xsd:string, "UMLS_CUI:C0398691"^^xsd:string, "UMLS_CUI:C1959626"^^xsd:string ; oboInOwl:hasExactSynonym "Mevalonate Kinase Deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mevalonic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050453 obo:IAO_0000115 "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation."^^xsd:string ; oboInOwl:hasDbXref "GARD:12291"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "MESH:D054082"^^xsd:string, "NCI:C103921"^^xsd:string, "OMIM:PS607432"^^xsd:string, "ORDO:102009"^^xsd:string, "SNOMEDCT_US_2021_03_01:204036008"^^xsd:string, "SNOMEDCT_US_2021_03_01:23024003"^^xsd:string, "UMLS_CUI:C0266463"^^xsd:string, "UMLS_CUI:C0266483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050453"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "lissencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2490, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000956 ] . obo:DOID_0050454 obo:IAO_0000115 "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054091"^^xsd:string, "OMIM:300049"^^xsd:string, "OMIM:608097"^^xsd:string, "OMIM:608098"^^xsd:string, "OMIM:612881"^^xsd:string, "OMIM:615544"^^xsd:string, "ORDO:98892"^^xsd:string, "SNOMEDCT_US_2021_03_01:448227009"^^xsd:string, "SNOMEDCT_US_2021_03_01:816068000"^^xsd:string, "UMLS_CUI:C1848213"^^xsd:string, "UMLS_CUI:C1868720"^^xsd:string ; oboInOwl:hasExactSynonym "periventricular heterotopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050454"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "periventricular nodular heterotopia"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 . obo:DOID_0050455 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050455"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arachnodactyly"^^xsd:string ; owl:deprecated true . obo:DOID_0050456 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:9520"^^xsd:string, "ICD10CM:A31.1"^^xsd:string, "MESH:D054312"^^xsd:string, "NCI:C84604"^^xsd:string, "SNOMEDCT_US_2021_03_01:186343005"^^xsd:string, "UMLS_CUI:C0085568"^^xsd:string ; oboInOwl:hasExactSynonym "Bairnsdale ulcer"@en, "Daintree ulcer"@en, "Mossman ulcer"@en, "Searl ulcer"@en, "Searle's ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Buruli ulcer disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1809 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000005 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0050457 obo:IAO_0000115 "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development."^^xsd:string ; oboInOwl:hasDbXref "GARD:8406"^^xsd:string, "MESH:D054331"^^xsd:string, "NCI:C168988"^^xsd:string, "SNOMEDCT_US_2021_03_01:73465006"^^xsd:string, "UMLS_CUI:C1384583"^^xsd:string ; oboInOwl:hasExactSynonym "DEL CASTILLO SYNDROME"@en, "Germinal Cell Aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050457"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Sertoli cell-only syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0050458 obo:IAO_0000115 "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9884"^^xsd:string, "ICD10CM:C93.3"^^xsd:string, "MESH:D054429"^^xsd:string, "NCI:C9233"^^xsd:string, "OMIM:607785"^^xsd:string, "SNOMEDCT_US_2021_03_01:445227008"^^xsd:string, "UMLS_CUI:C0349639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050458"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "juvenile myelomonocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4972, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0050459 obo:IAO_0000115 "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054559"^^xsd:string, "NCI:C113750"^^xsd:string, "SNOMEDCT_US_2021_03_01:20165001"^^xsd:string, "UMLS_CUI:C0085681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperphosphatemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2485 . obo:DOID_0050460 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6684"^^xsd:string ; oboInOwl:hasDbXref "GARD:7896"^^xsd:string, "ICD10CM:Q93.3"^^xsd:string, "MESH:D054877"^^xsd:string, "NCI:C35528"^^xsd:string, "OMIM:194190"^^xsd:string, "ORDO:280"^^xsd:string, "SNOMEDCT_US_2021_03_01:17122004"^^xsd:string, "UMLS_CUI:C0796117"^^xsd:string, "UMLS_CUI:C1956097"^^xsd:string ; oboInOwl:hasExactSynonym "4p deletion syndrome"@en, "PITT SYNDROME"@en, "Pitt-Rogers-Danks Syndrome"@en, "chromosome 4p16.3 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050460"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wolf-Hirschhorn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0050461 obo:IAO_0000115 "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins."^^xsd:string ; oboInOwl:hasDbXref "GARD:5854"^^xsd:string, "ICD10CM:E77.1"^^xsd:string, "MESH:D054880"^^xsd:string, "NCI:C61273"^^xsd:string, "OMIM:208400"^^xsd:string, "SNOMEDCT_US_2021_03_01:54954004"^^xsd:string, "UMLS_CUI:C0268225"^^xsd:string ; oboInOwl:hasExactSynonym "aspartylglucosaminidase deficiency"@en, "aspartylglycosaminuria"@en, "glycosylasparaginase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050461"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aspartylglucosaminuria"^^xsd:string ; rdfs:subClassOf obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ; skos:exactMatch "MESH:D054880"^^xsd:string . obo:DOID_0050462 obo:IAO_0000115 "A craniosynostosis that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201750"^^xsd:string, "OMIM:207410"^^xsd:string, "SNOMEDCT_US_2020_03_01:62964007"^^xsd:string ; oboInOwl:hasExactSynonym "trapezoidocephaly-synostosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050462"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Antley-Bixler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, obo:DOID_2340, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] ; skos:exactMatch "MESH:D054882"^^xsd:string . obo:DOID_0050463 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."^^xsd:string ; oboInOwl:hasDbXref "GARD:10027"^^xsd:string, "MESH:D055036"^^xsd:string, "NCI:C120205"^^xsd:string, "NCI:C84609"^^xsd:string, "OMIM:114290"^^xsd:string, "ORDO:140"^^xsd:string, "SNOMEDCT_US_2021_03_01:74928006"^^xsd:string, "UMLS_CUI:C1861922"^^xsd:string, "UMLS_CUI:C1861923"^^xsd:string ; oboInOwl:hasExactSynonym "Acampomelic Campomelic Dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "campomelic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050464 obo:IAO_0000115 "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."^^xsd:string ; oboInOwl:hasDbXref "GARD:6426"^^xsd:string, "MESH:D055577"^^xsd:string, "NCI:C84710"^^xsd:string, "OMIM:228000"^^xsd:string, "SNOMEDCT_US_2021_03_01:79935000"^^xsd:string, "UMLS_CUI:C0268255"^^xsd:string ; oboInOwl:hasExactSynonym "Farber disease"@en, "N-laurylsphingosine deacylase deficiency"@en, "acid ceramidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050464"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Farber lipogranulomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0050465 obo:IAO_0000115 "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:6821"^^xsd:string, "MESH:D055653"^^xsd:string, "NCI:C84905"^^xsd:string, "OMIM:158320"^^xsd:string, "SNOMEDCT_US_2021_03_01:403824007"^^xsd:string, "UMLS_CUI:C1321489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050465"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Muir-Torre syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0050466 obo:IAO_0000115 "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects."^^xsd:string ; oboInOwl:hasDbXref "GARD:10788"^^xsd:string, "MESH:D055947"^^xsd:string, "NCI:C75006"^^xsd:string, "ORDO:60030"^^xsd:string, "SNOMEDCT_US_2021_03_01:446263001"^^xsd:string, "UMLS_CUI:C1836635"^^xsd:string, "UMLS_CUI:C2697932"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050466"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Loeys-Dietz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050467 obo:IAO_0000115 "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056266"^^xsd:string, "NCI:C84696"^^xsd:string, "OMIM:PS133200"^^xsd:string, "ORDO:317"^^xsd:string, "SNOMEDCT_US_2021_03_01:70041004"^^xsd:string, "UMLS_CUI:C0265961"^^xsd:string, "UMLS_CUI:C1851480"^^xsd:string ; oboInOwl:hasExactSynonym "Erythrokeratodermia Figurata Variabilis"@en, "Greither Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050467"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "erythrokeratodermia variabilis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ; skos:exactMatch "MESH:D056266"^^xsd:string . obo:DOID_0050468 obo:IAO_0000115 "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached."^^xsd:string ; oboInOwl:hasDbXref "GARD:184"^^xsd:string, "ICD10CM:L60.5"^^xsd:string, "MESH:D056684"^^xsd:string, "NCI:C85238"^^xsd:string, "OMIM:153300"^^xsd:string, "SNOMEDCT_US_2021_03_01:400211001"^^xsd:string, "UMLS_CUI:C0221348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050468"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "yellow nail syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_37, obo:DOID_4123, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] ) ] . obo:DOID_0050469 obo:IAO_0000115 "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."^^xsd:string ; oboInOwl:hasDbXref "GARD:1550"^^xsd:string, "MESH:D056685"^^xsd:string, "NCI:C84652"^^xsd:string, "OMIM:218040"^^xsd:string, "SNOMEDCT_US_2021_03_01:205803001"^^xsd:string, "UMLS_CUI:C0587248"^^xsd:string ; oboInOwl:hasExactSynonym "FCS SYNDROME"@en, "Faciocutaneoskeletal Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Costello syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050470 obo:IAO_0000115 "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056731"^^xsd:string, "NCI:C131000"^^xsd:string, "NCI:C84676"^^xsd:string, "OMIM:246200"^^xsd:string, "ORDO:508"^^xsd:string, "SNOMEDCT_US_2021_03_01:111307005"^^xsd:string, "SNOMEDCT_US_2021_03_01:33559001"^^xsd:string, "UMLS_CUI:C0265344"^^xsd:string, "UMLS_CUI:C0271695"^^xsd:string ; oboInOwl:hasExactSynonym "Leprechaunism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050470"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Donohue syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050471 obo:IAO_0000115 "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity."^^xsd:string ; oboInOwl:hasDbXref "GARD:1119"^^xsd:string, "MESH:D056733"^^xsd:string, "NCI:C4705"^^xsd:string, "OMIM:160980"^^xsd:string, "OMIM:605244"^^xsd:string, "OMIM:608837"^^xsd:string, "ORDO:1359"^^xsd:string, "SNOMEDCT_US_2021_03_01:733491005"^^xsd:string, "UMLS_CUI:C0406810"^^xsd:string, "UMLS_CUI:C1854540"^^xsd:string, "UMLS_CUI:C2607929"^^xsd:string ; oboInOwl:hasExactSynonym "Carney Complex, Type 1"@en, "Carney Complex, Type 2"@en, "Carney Syndrome"@en, "Carney complex variant"@en, "LAMB Syndrome"@en, "NAME Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050471"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Carney complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050472 obo:IAO_0000115 "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins."^^xsd:string ; oboInOwl:hasDbXref "GARD:93"^^xsd:string, "ICD10CM:Q84.1"^^xsd:string, "MESH:D056734"^^xsd:string, "NCI:C84894"^^xsd:string, "OMIM:158000"^^xsd:string, "SNOMEDCT_US_2021_03_01:69488000"^^xsd:string, "UMLS_CUI:C0546966"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "monilethrix"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_421, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050473 obo:IAO_0000115 "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056769"^^xsd:string, "NCI:C84549"^^xsd:string, "OMIM:203800"^^xsd:string, "SNOMEDCT_US_2021_03_01:63702009"^^xsd:string, "UMLS_CUI:C0268425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050473"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alstrom syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ] ; skos:exactMatch "MESH:D056769"^^xsd:string . obo:DOID_0050474 obo:IAO_0000115 "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:7182"^^xsd:string, "MESH:D056770"^^xsd:string, "NCI:C84922"^^xsd:string, "OMIM:256500"^^xsd:string, "ORDO:634"^^xsd:string, "SNOMEDCT_US_2021_03_01:312514006"^^xsd:string, "UMLS_CUI:C0265962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050474"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Netherton syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050475 obo:IAO_0000115 "A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:4936"^^xsd:string, "MESH:D056846"^^xsd:string, "NCI:C85226"^^xsd:string, "OMIM:277600"^^xsd:string, "OMIM:608328"^^xsd:string, "OMIM:613195"^^xsd:string, "OMIM:614819"^^xsd:string, "ORDO:3449"^^xsd:string, "SNOMEDCT_US_2021_03_01:205801004"^^xsd:string, "UMLS_CUI:C0265313"^^xsd:string, "UMLS_CUI:C1869114"^^xsd:string, "UMLS_CUI:C1869115"^^xsd:string ; oboInOwl:hasExactSynonym "GEMSS syndrome"@en, "Marchesani-Weill Syndrome"@en, "Mesodermal Dysmorphodystrophy, Congenital"@en, "Spherophakia Brachymorphia Syndrome"@en, "congenital mesodermal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050475"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "Weill-Marchesani syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050476 obo:IAO_0000115 "A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."^^xsd:string ; oboInOwl:hasDbXref "GARD:5890"^^xsd:string, "ICD10CM:E78.71"^^xsd:string, "MESH:D056889"^^xsd:string, "NCI:C84585"^^xsd:string, "OMIM:302060"^^xsd:string, "SNOMEDCT_US_2021_03_01:297231002"^^xsd:string, "UMLS_CUI:C0574083"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconicaciduria type 2"@en, "3-methylglutaconicaciduria type II"@en, "MGA Type 2"@en, "MGA type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050476"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Barth syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D056889"^^xsd:string . obo:DOID_0050477 obo:IAO_0000115 "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel."^^xsd:string ; oboInOwl:hasDbXref "GARD:7381"^^xsd:string, "MESH:D056929"^^xsd:string, "NCI:C84827"^^xsd:string, "OMIM:177200"^^xsd:string, "SNOMEDCT_US_2021_03_01:707749005"^^xsd:string, "UMLS_CUI:C0221043"^^xsd:string ; oboInOwl:hasExactSynonym "Liddle's syndrome"@en, "Pseudoaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Liddle syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_447 . obo:DOID_0050478 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050478"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050479 oboInOwl:hasExactSynonym "Klebsiella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050479"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Klebsiella infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050480 obo:IAO_0000115 "A typhus that has_material_basis _in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium."^^xsd:string ; oboInOwl:hasExactSynonym "sylvatic typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050480"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "epidemic typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_782 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_121224 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050481 obo:IAO_0000115 "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050028"^^xsd:string, "DOID:0050029"^^xsd:string, "DOID:0050030"^^xsd:string, "DOID:0050057"^^xsd:string, "DOID:0050058"^^xsd:string ; oboInOwl:hasExactSynonym "Rat-Flea Typhus"@en, "Rickettsia felis spotted fever"@en, "Urban Typhus of Malaya"@en, "cat flea rickettsiosis"@en, "fleaborne typhus"@en, "murine typhus"@en, "toulon typhus"@en, "urban typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Shop typhus"@en ; oboInOwl:id "DOID:0050481"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "endemic typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_42862 obo:NCBITaxon_785 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_163159 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050482 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050482"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete lymphangitis-associated rickettsiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050483 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050483"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rickettsia aeschlimannii spotted fever"^^xsd:string ; owl:deprecated true . obo:DOID_0050484 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia."^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia helvetica spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050484"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "aneruptive fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35789 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6944 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050485 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia."^^xsd:string ; oboInOwl:hasDbXref "GARD:120"^^xsd:string ; oboInOwl:hasExactSynonym "Sennetsu ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050485"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sennetsu fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_951 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050486 obo:IAO_0000115 "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R21"^^xsd:string, "ICD9CM:782.1"^^xsd:string, "MESH:D005076"^^xsd:string, "NCI:C111884"^^xsd:string, "SNOMEDCT_US_2021_03_01:112625008"^^xsd:string, "UMLS_CUI:C0015230"^^xsd:string ; oboInOwl:hasExactSynonym "Rash"@en, "exanthema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exanthem"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0050487 obo:IAO_0000115 "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050487"^^xsd:string ; a owl:Class ; rdfs:label "bacterial exanthem"^^xsd:string ; rdfs:subClassOf obo:DOID_0050486, obo:DOID_104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_0050488 obo:IAO_0000115 "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050488"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "early congenital syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9856, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000051 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000465 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050489 obo:IAO_0000115 "A goiter characterized by a multinodular enlargement of the thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "OMIM:138800"^^xsd:string, "OMIM:300273"^^xsd:string, "OMIM:606082"^^xsd:string, "ORDO:276399"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050489"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "multinodular goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_0050490 obo:IAO_0000115 "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050490"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "parenchymatous neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000571 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000654 ] . obo:DOID_0050491 obo:IAO_0000115 "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050491"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "meningovascular neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000571 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000719 ] . obo:DOID_0050492 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050492"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tertiary syphilitic encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050493 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050493"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tertiary syphilitic meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050494 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050494"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Papillomaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050495 obo:IAO_0000115 "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.2"^^xsd:string, "ICD9CM:058.1"^^xsd:string, "MESH:D005077"^^xsd:string, "SNOMEDCT_US_2021_03_01:54385001"^^xsd:string, "UMLS_CUI:C0015231"^^xsd:string ; oboInOwl:hasExactSynonym "Roseola Infantum"@en, "Sixth Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050495"^^xsd:string ; a owl:Class ; rdfs:label "exanthema subitum"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10368 obo:NCBITaxon_10372 ) ] ] . obo:DOID_0050496 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050496"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Banna virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050497 obo:IAO_0000115 "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050497"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Anelloviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050498 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded DNA virus infectious disease"@en, "dsDNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050498"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsDNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050499 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA."^^xsd:string ; oboInOwl:hasExactSynonym "single stranded DNA virus infectious disease"@en, "ssDNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050499"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ssDNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050500 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded DNA reverse transcribing virus infectious disease"@en, "double stranded DNA-reverse transcribing virus infection"@en, "dsDNA-RT virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050500"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsDNA-RT virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050501 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded RNA virus infectious disease"@en, "dsRNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050501"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050502 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "(+)ssRNA virus infection"@en, "Positive Stranded ssRNA Virus infectious disease"@en, "positive-sense single stranded RNA virus infectious disease"@en, "positive-sense ssRNA virus infection"@en, "positive-sense ssRNA virus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050502"^^xsd:string ; a owl:Class ; rdfs:label "obsolete (+)ssRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050503 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "(-)ssRNA virus infection"@en, "Negative Stranded ssRNA Virus infectious disease"@en, "negative-sense single stranded RNA virus infectious disease"@en, "negative-sense ssRNA virus infection"@en, "negative-sense ssRNA virus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050503"^^xsd:string ; a owl:Class ; rdfs:label "obsolete (-)ssRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050504 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase."^^xsd:string ; oboInOwl:hasExactSynonym "single stranded RNA reverse transcribing virus infectious disease"@en, "ssRNA-RT virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050504"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ssRNA-RT virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050505 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050505"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related anal squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_0050506 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050506"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related vaginal squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_0050507 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050507"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cryptosporidiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050508 obo:IAO_0000115 "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:050.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:266193008"^^xsd:string, "UMLS_CUI:C1812609"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050508"^^xsd:string ; a owl:Class ; rdfs:label "variola major"^^xsd:string ; rdfs:subClassOf obo:DOID_8736 . obo:DOID_0050509 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050509"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related toxoplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050510 oboInOwl:hasExactSynonym "AIDS-related isosporiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050510"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cystoisosporiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050511 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050511"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Human torovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050512 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050512"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Saffold virus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050513 obo:IAO_0000115 "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050513"^^xsd:string ; a owl:Class ; rdfs:label "spinal polio"^^xsd:string ; rdfs:subClassOf obo:DOID_0050515, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_0050514 obo:IAO_0000115 "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050514"^^xsd:string ; a owl:Class ; rdfs:label "bulbospinal polio"^^xsd:string ; rdfs:subClassOf obo:DOID_0050515, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0002240 obo:UBERON_0002298 ) ] ] . obo:DOID_0050515 obo:IAO_0000115 "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050515"^^xsd:string ; a owl:Class ; rdfs:label "paralytic poliomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_0050516 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050516"^^xsd:string ; a owl:Class ; rdfs:label "O'nyong'nyong fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_62324 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7165 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019155 ] . obo:DOID_0050517 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050517"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Barmah Forest virus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_0050518 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string ; oboInOwl:hasExactSynonym "Ross River virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050518"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Ross River fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11029 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_0050519 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050519"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050520 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050520"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus meningoencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050521 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050521"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Oropouche fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_41820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_118655 ] . obo:DOID_0050522 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050522"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Balkan hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_54292 ] . obo:DOID_0050523 obo:IAO_0000115 "A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:13103"^^xsd:string, "ICD10CM:C91.5"^^xsd:string, "MESH:D015459"^^xsd:string, "NCI:C3184"^^xsd:string, "SNOMEDCT_US_2021_03_01:77430005"^^xsd:string, "UMLS_CUI:C0023493"^^xsd:string ; oboInOwl:hasExactSynonym "Adult T-cell leukemia/lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050523"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult T-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_715, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11908 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000013 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0050524 obo:IAO_0000115 "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects."^^xsd:string ; oboInOwl:hasDbXref "GARD:3697"^^xsd:string, "ICD10CM:E11.8"^^xsd:string, "KEGG:04950"^^xsd:string, "OMIM:606391"^^xsd:string, "ORDO:552"^^xsd:string ; oboInOwl:hasExactSynonym "MODY"@en, "Mason-type diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050524"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "maturity-onset diabetes of the young"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9351, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050525 oboInOwl:hasExactSynonym "acro-osteolysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Acroosteolysis syndrome"@en ; oboInOwl:id "DOID:0050525"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete acroosteolysis"^^xsd:string ; owl:deprecated true . obo:DOID_0050526 obo:IAO_0000115 "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."^^xsd:string ; oboInOwl:hasDbXref "GARD:12353"^^xsd:string, "OMIM:137200"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive neuromyotonia and axonal neuropathy"@en, "myokymia, myotonia and muscle wasting"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050526"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gamstorp-Wohlfart syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050527 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050527"^^xsd:string ; a owl:Class ; rdfs:label "obsolete familial hypertriglyceridemia"^^xsd:string ; owl:deprecated true . obo:DOID_0050528 obo:IAO_0000115 "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:234050"^^xsd:string ; oboInOwl:hasExactSynonym "AMISH BRITTLE HAIR BRAIN SYNDROME"@en, "BIDS syndrome"@en, "HAIR-BRAIN SYNDROME"@en, "TTD4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050528"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nonphotosensitive trichothiodystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050529 obo:IAO_0000115 "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.1"^^xsd:string, "MESH:C563948"^^xsd:string, "OMIM:271150"^^xsd:string, "ORDO:83420"^^xsd:string, "UMLS_CUI:C1838230"^^xsd:string ; oboInOwl:hasExactSynonym "SMA4"@en, "SPINAL MUSCULAR ATROPHY, ADULT FORM"@en, "SPINAL MUSCULAR ATROPHY, TYPE IV"@en, "spinal muscular atrophy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050529"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "adult spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0050530 obo:IAO_0000115 "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014897"^^xsd:string, "NCI:C156310"^^xsd:string, "OMIM:253550"^^xsd:string, "SNOMEDCT_US_2021_03_01:128212001"^^xsd:string, "UMLS_CUI:C0393538"^^xsd:string ; oboInOwl:hasExactSynonym "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM"@en, "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE"@en, "SMA II"@en, "SMA2"@en, "spinal muscular atrophy 2"@en, "spinal muscular atrophy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050530"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "intermediate spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050531 oboInOwl:hasExactSynonym "LENTIGINOSIS, DIFFUSE"@en, "LENTIGINOSIS, GENERALIZED"@en, "LENTIGINOSIS, INHERITED PATTERNED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050531"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete lentiginosis profusa"^^xsd:string ; owl:deprecated true . obo:DOID_0050532 oboInOwl:hasExactSynonym "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC"@en, "PIGMENTED MOLES"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050532"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete epidermal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_0050533 oboInOwl:hasExactSynonym "IRRITABLE HEART"@en, "MITRAL VALVE PROLAPSE SYNDROME"@en, "NEUROCIRCULATORY ASTHENIA"@en, "ORTHOSTATIC INTOLERANCE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050533"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete soldiers heart"^^xsd:string ; owl:deprecated true . obo:DOID_0050534 obo:IAO_0000115 "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.63"^^xsd:string, "ICD9CM:368.61"^^xsd:string, "MESH:C537743"^^xsd:string, "OMIM:PS310500"^^xsd:string, "ORDO:215"^^xsd:string, "SNOMEDCT_US_2021_03_01:193687000"^^xsd:string, "UMLS_CUI:C1306122"^^xsd:string ; oboInOwl:hasExactSynonym "congenital essential nyctalopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050534"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital stationary night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_8498, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050535 obo:IAO_0000115 "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina."^^xsd:string ; oboInOwl:hasDbXref "GARD:1613"^^xsd:string, "ICD10CM:H35.00"^^xsd:string, "ICD9CM:362.10"^^xsd:string, "OMIM:PS133780"^^xsd:string, "ORDO:891"^^xsd:string, "SNOMEDCT_US_2021_03_01:193355009"^^xsd:string, "UMLS_CUI:C0004608"^^xsd:string ; oboInOwl:hasExactSynonym "FEVR"@en, "familial exudative vitreoretinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050535"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "exudative vitreoretinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_0050536 obo:IAO_0000115 "A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene."^^xsd:string ; oboInOwl:hasExactSynonym "Hypomelia Hypotrichosis Facial hemangioma syndrome"@en, "SC PSEUDOTHALIDOMIDE SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050536"^^xsd:string ; a owl:Class ; rdfs:comment "GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS]"^^xsd:string ; rdfs:label "obsolete SC phocomelia syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050537 obo:IAO_0000115 "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule."^^xsd:string ; oboInOwl:hasExactSynonym "CATARACT, POSTERIOR POLAR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050537"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "posterior polar cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0050538 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons."^^xsd:string ; oboInOwl:hasDbXref "GARD:12433"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050538"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050539 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."^^xsd:string ; oboInOwl:hasDbXref "GARD:12431"^^xsd:string, "ICD9CM:356.0"^^xsd:string, "OMIM:118230"^^xsd:string, "OMIM:604484"^^xsd:string, "ORDO:64746"^^xsd:string, "SNOMEDCT_US_2021_03_01:193158000"^^xsd:string, "UMLS_CUI:C0392553"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy Guadalajara neuronal type"@en, "hereditary motor and sensory neuropathy Okinawa type"@en, "hereditary motor and sensory neuropathy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050539"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050540 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145900"^^xsd:string ; oboInOwl:hasExactSynonym "DEJERINE-SOTTAS NEUROPATHY"@en, "DEJERINE-SOTTAS SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050540"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10595, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050541 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050582"^^xsd:string ; oboInOwl:hasDbXref "GARD:12440"^^xsd:string, "ORDO:64749"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050541"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050542 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene."^^xsd:string ; oboInOwl:hasDbXref "ORDO:64747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050542"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type X"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050543 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s."^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease dominant intermediate"@en, "Charcot-Marie-Tooth disease recessive intermediate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050543"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease intermediate type"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050544 obo:IAO_0000115 "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050544"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypermethioninemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050545 obo:IAO_0000115 "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen."^^xsd:string ; oboInOwl:hasDbXref "GARD:10875"^^xsd:string, "OMIM:306955"^^xsd:string, "OMIM:605376"^^xsd:string, "OMIM:606325"^^xsd:string, "OMIM:613751"^^xsd:string, "OMIM:614779"^^xsd:string, "ORDO:450"^^xsd:string ; oboInOwl:hasExactSynonym "heterotaxia"@en, "situs ambiguus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050545"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "visceral heterotaxy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0050546 obo:IAO_0000115 "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613743"^^xsd:string ; oboInOwl:hasExactSynonym "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE"@en, "P450scc DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050546"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital adrenal insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080015, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050547 obo:IAO_0000115 "A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:155240"^^xsd:string ; oboInOwl:hasExactSynonym "THYROID CARCINOMA, FAMILIAL MEDULLARY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050547"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial medullary thyroid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3973 . obo:DOID_0050548 obo:IAO_0000115 "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009477"^^xsd:string, "OMIM:PS162400"^^xsd:string ; oboInOwl:hasExactSynonym "familial dysautonomia, type II"@en, "hereditary sensory and autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050548"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary sensory neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0050549 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase."^^xsd:string ; oboInOwl:hasExactSynonym "type I short rib polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050549"^^xsd:string ; a owl:Class ; rdfs:label "Saldino-Noonan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0050550 oboInOwl:hasExactSynonym "type II short rib-polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050550"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete Majewski syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050551 oboInOwl:hasExactSynonym "type III short rib-polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050551"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete Verma-Naumoff syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050553 obo:IAO_0000115 "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10988"^^xsd:string, "OMIM:256040"^^xsd:string, "ORDO:324999"^^xsd:string ; oboInOwl:hasExactSynonym "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050553"^^xsd:string ; a owl:Class ; rdfs:label "JMP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050554 obo:IAO_0000115 "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060064"^^xsd:string ; oboInOwl:hasDbXref "OMIM:301310"^^xsd:string ; oboInOwl:hasExactSynonym "Anemia sideroblastic and spinocerebellar ataxia"@en, "X-linked sideroblastic anaemia and ataxia"@en, "X-linked sideroblastic anaemia with ataxia"@en, "X-linked sideroblastic anemia and ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050554"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked sideroblastic anemia with ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050556 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050556"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infantile onset spinocerebellar ataxia"^^xsd:string ; owl:deprecated true . obo:DOID_0050557 obo:IAO_0000115 "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."^^xsd:string ; oboInOwl:hasDbXref "GARD:9138"^^xsd:string, "ICD9CM:359.0"^^xsd:string, "OMIM:254100"^^xsd:string, "ORDO:97242"^^xsd:string, "SNOMEDCT_US_2021_03_01:193221009"^^xsd:string, "UMLS_CUI:C2937300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050557"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050558 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen."^^xsd:string ; oboInOwl:hasDbXref "GARD:4769"^^xsd:string, "OMIM:254090"^^xsd:string ; oboInOwl:hasExactSynonym "ULLRICH DISEASE"@en, "Ullrich scleroatonic muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050558"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ullrich congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050559 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."^^xsd:string ; oboInOwl:hasDbXref "GARD:6475"^^xsd:string, "OMIM:253800"^^xsd:string, "ORDO:272"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050559"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Fukuyama congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050560 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2599"^^xsd:string, "MESH:D058494"^^xsd:string ; oboInOwl:hasExactSynonym "HARD syndrome"@en, "cerebroocular dysplasia-muscular dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050560"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Walker-Warburg syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050561 obo:IAO_0000115 "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:9912"^^xsd:string, "OMIM:606369"^^xsd:string, "ORDO:2382"^^xsd:string ; oboInOwl:hasExactSynonym "Lennox syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050561"^^xsd:string ; a owl:Class ; rdfs:label "Lennox-Gastaut syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050562 obo:IAO_0000115 "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:7887"^^xsd:string, "MESH:D013036"^^xsd:string, "NCI:C84788"^^xsd:string, "ORDO:3451"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Infantile spasms syndrome"@en ; oboInOwl:id "DOID:0050562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "West syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703 . obo:DOID_0050563 obo:IAO_0000115 "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms."^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic hearing loss"@en, "nonsyndromic hereditary hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050563"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_0050564 obo:IAO_0000115 "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:PS124900"^^xsd:string, "ORDO:90635"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050564"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autosomal dominant nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050565 obo:IAO_0000115 "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607197"^^xsd:string, "OMIM:PS220290"^^xsd:string, "ORDO:90636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050565"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autosomal recessive nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050566 obo:IAO_0000115 "A nonsyndromic deafness characterized by an X-linked inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:PS304500"^^xsd:string, "ORDO:90625"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050566"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050567 obo:IAO_0000115 "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS119530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050567"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "orofacial cleft"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:DOID_0050567 ] ) ] ) ] . obo:DOID_0050568 obo:IAO_0000115 "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together."^^xsd:string ; oboInOwl:hasDbXref "GARD:12174"^^xsd:string, "GARD:6798"^^xsd:string, "OMIM:122600"^^xsd:string, "OMIM:277300"^^xsd:string, "OMIM:608681"^^xsd:string, "OMIM:609813"^^xsd:string, "OMIM:613686"^^xsd:string, "ORDO:1797"^^xsd:string, "ORDO:2311"^^xsd:string ; oboInOwl:hasExactSynonym "Jarcho-Levin syndrome"@en, "spondylocostal dysostosis, autosomal recessive 3"@en, "spondylothoracic dysostosis"@en, "spondylothoracic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050568"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "spondylocostal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0050569 obo:IAO_0000115 "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:8562"^^xsd:string, "ICD10CM:Q87.1"^^xsd:string, "OMIM:PS210600"^^xsd:string, "ORDO:808"^^xsd:string ; oboInOwl:hasExactSynonym "Harper's syndrome"@en, "Virchow-Seckel dwarfism"@en, "bird-headed dwarfism"@en, "microcephalic primordial dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050569"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Seckel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050570 obo:IAO_0000115 "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS212065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050570"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital disorder of glycosylation type I"^^xsd:string ; rdfs:subClassOf obo:DOID_5212, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050571 obo:IAO_0000115 "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS212066"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050571"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital disorder of glycosylation type II"^^xsd:string ; rdfs:subClassOf obo:DOID_5212, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050572 obo:IAO_0000115 "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10790"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "ORDO:1872"^^xsd:string ; oboInOwl:hasExactSynonym "cone-rod retinal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050572"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_8466, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050573 obo:IAO_0000115 "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage."^^xsd:string ; oboInOwl:hasDbXref "GARD:10761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050573"^^xsd:string ; a owl:Class ; rdfs:label "2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050574 obo:IAO_0000115 "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)."^^xsd:string ; oboInOwl:hasDbXref "GARD:10472"^^xsd:string, "OMIM:236792"^^xsd:string, "ORDO:79314"^^xsd:string ; oboInOwl:hasExactSynonym "L-2-HYDROXYGLUTARIC ACIDEMIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050574"^^xsd:string ; a owl:Class ; rdfs:label "L-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, obo:DOID_2786, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_0050575 obo:IAO_0000115 "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory."^^xsd:string ; oboInOwl:hasDbXref "GARD:5661"^^xsd:string, "OMIM:PS600721"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050575"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050576 obo:IAO_0000115 "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:322"^^xsd:string, "ICD10CM:Q61.5"^^xsd:string, "OMIM:266900"^^xsd:string, "OMIM:606995"^^xsd:string, "OMIM:606996"^^xsd:string, "OMIM:609254"^^xsd:string, "OMIM:610189"^^xsd:string, "OMIM:613615"^^xsd:string, "ORDO:3156"^^xsd:string ; oboInOwl:hasExactSynonym "Loken Senior syndrome"@en, "renal-retinal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050576"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Senior-Loken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050577 obo:IAO_0000115 "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS218330"^^xsd:string ; oboInOwl:hasExactSynonym "Levin syndrome"@en, "Sensenbrenner syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050577"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cranioectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050578 obo:IAO_0000115 "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050578"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "occult macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050579 obo:IAO_0000115 "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613507"^^xsd:string ; oboInOwl:hasExactSynonym "glycogen storage disease type XV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050579"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease XV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2747, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050580 obo:IAO_0000115 "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system."^^xsd:string ; oboInOwl:hasDbXref "GARD:7220"^^xsd:string, "ICD9CM:757.0"^^xsd:string, "OMIM:PS153100"^^xsd:string, "ORDO:79452"^^xsd:string, "SNOMEDCT_US_2021_03_01:205542007"^^xsd:string, "UMLS_CUI:C1313885"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050580"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary lymphedema"^^xsd:string ; rdfs:subClassOf obo:DOID_4977 . obo:DOID_0050581 obo:IAO_0000115 "A dysostosis characterized by short fingers and toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:11913"^^xsd:string, "ORDO:294937"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050581"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002389 ) ] ] ; skos:exactMatch "MESH:D059327"^^xsd:string . obo:DOID_0050583 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050583"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chlamydophila pneumoniae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050584 obo:IAO_0000115 "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050584"^^xsd:string ; a owl:Class ; rdfs:label "gummatous syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_8200 . obo:DOID_0050585 obo:IAO_0000115 "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance."^^xsd:string ; oboInOwl:hasDbXref "GARD:13388"^^xsd:string, "OMIM:PS608594"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050585"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital generalized lipodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_0080298, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050587 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable plucking of ones hair."^^xsd:string ; oboInOwl:hasDbXref "GARD:7803"^^xsd:string, "MESH:D014256"^^xsd:string, "OMIM:613229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050587"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "trichotillomania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_0050588 obo:IAO_0000115 "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613151"^^xsd:string, "OMIM:613152"^^xsd:string, "OMIM:613155"^^xsd:string, "OMIM:613156"^^xsd:string, "OMIM:615351"^^xsd:string, "OMIM:616094"^^xsd:string, "OMIM:PS613155"^^xsd:string, "ORDO:370953"^^xsd:string ; oboInOwl:hasExactSynonym "CMD due to dystroglycanopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050588"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "muscular dystrophy-dystroglycanopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050589 obo:IAO_0000115 "An intestinal disease characterized by inflammation located in all parts of digestive tract."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003767"^^xsd:string, "KEGG:05321"^^xsd:string, "MESH:D015212"^^xsd:string, "NCI:C3138"^^xsd:string, "OMIM:PS266600"^^xsd:string, "SNOMEDCT_US_2021_03_01:155759008"^^xsd:string, "UMLS_CUI:C0021390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050589"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "inflammatory bowel disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0050590 obo:IAO_0000115 "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections."^^xsd:string ; oboInOwl:hasDbXref "GARD:13592"^^xsd:string, "ICD10CM:D70"^^xsd:string, "OMIM:PS202700"^^xsd:string, "ORDO:42738"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050590"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1227, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050591 obo:IAO_0000115 "A tooth disease characterized by failure to develop on or more missing teeth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.0"^^xsd:string, "ICD9CM:520.0"^^xsd:string, "MESH:D000848"^^xsd:string, "NCI:C172328"^^xsd:string, "OMIM:106600"^^xsd:string, "OMIM:150400"^^xsd:string, "OMIM:313500"^^xsd:string, "OMIM:602639"^^xsd:string, "OMIM:604625"^^xsd:string, "OMIM:610926"^^xsd:string, "ORDO:2227"^^xsd:string, "ORDO:99798"^^xsd:string, "SNOMEDCT_US_2021_03_01:234951001"^^xsd:string, "UMLS_CUI:C0399352"^^xsd:string ; oboInOwl:hasExactSynonym "familial tooth agenesis"@en, "hypodontia"@en, "oligodontia"@en, "selective tooth agenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050591"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "tooth agenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_0050592 obo:IAO_0000115 "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:PS208500"^^xsd:string, "ORDO:474"^^xsd:string ; oboInOwl:hasExactSynonym "Jeune syndrome"@en, "short-rib thoracic dysplasia with or without polydactyly"@en, "thoracic pelvic phalangeal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050592"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "asphyxiating thoracic dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0050593 obo:IAO_0000115 "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613085"^^xsd:string, "OMIM:613086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050593"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary congenital glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080015, obo:DOID_1686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050594 obo:IAO_0000115 "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050594"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IX"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_0050596 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10076"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B68.1"^^xsd:string, "ICD9CM:123.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:69163003"^^xsd:string, "UMLS_CUI:C0152073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Beef tapeworm infection"@en, "Infection by Taeniarhynchus saginatus"@en, "Taenia saginata infectious disease"@en ; oboInOwl:id "DOID:0050596"^^xsd:string ; a owl:Class ; rdfs:label "taeniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6204 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6206 ] . obo:DOID_0050597 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13692"^^xsd:string, "DOID:13721"^^xsd:string, "DOID:3468"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B65.1"^^xsd:string, "ICD10CM:B65.2"^^xsd:string, "ICD9CM:120.1"^^xsd:string, "ICD9CM:120.2"^^xsd:string, "MESH:D012554"^^xsd:string, "MESH:D012555"^^xsd:string, "NCI:C35001"^^xsd:string, "NCI:C35002"^^xsd:string, "NCI:C35364"^^xsd:string, "OMIM:181460"^^xsd:string, "ORDO:1247"^^xsd:string, "SNOMEDCT_US_2021_03_01:187114003"^^xsd:string, "SNOMEDCT_US_2021_03_01:52179003"^^xsd:string, "SNOMEDCT_US_2021_03_01:750009"^^xsd:string, "UMLS_CUI:C0036329"^^xsd:string, "UMLS_CUI:C0036330"^^xsd:string, "UMLS_CUI:C0276932"^^xsd:string ; oboInOwl:hasExactSynonym "Katayama fever"@en, "Schistosoma japonicum infection"@en, "Schistosoma mansoni infectious disease"@en, "schistosomiasis japonica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050597"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "intestinal schistosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001880 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000421 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000639 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_0050598 obo:IAO_0000115 "A tuberculosis that occurs at body sites other than the lung."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050598"^^xsd:string ; a owl:Class ; rdfs:label "extrapulmonary tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_399, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004122 ] . obo:DOID_0050599 obo:IAO_0000115 "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050599"^^xsd:string ; a owl:Class ; rdfs:label "abdominal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598 . obo:DOID_0050600 obo:IAO_0000115 "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600501"^^xsd:string ; oboInOwl:hasExactSynonym "ABCDS"@en, "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050600"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ABCD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050601 obo:IAO_0000115 "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63."^^xsd:string ; oboInOwl:hasDbXref "GARD:384"^^xsd:string, "OMIM:103285"^^xsd:string ; oboInOwl:hasExactSynonym "acro-dermato-ungual-lacrimal-tooth syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050601"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ADULT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050602 obo:IAO_0000115 "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:457"^^xsd:string, "OMIM:231550"^^xsd:string ; oboInOwl:hasExactSynonym "AAAS"@en, "Achalasia-Addisonianism-Alacrimia syndrome"@en, "Allgrove Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050602"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "triple-A syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050603 obo:IAO_0000115 "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:376"^^xsd:string, "OMIM:200500"^^xsd:string ; oboInOwl:hasExactSynonym "Acheiropodia"@en, "Horn-Kolb Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050603"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acheiropody"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050604 obo:IAO_0000115 "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10605"^^xsd:string, "MESH:C564334"^^xsd:string, "OMIM:607778"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050604"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrocapitofemoral dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050605 obo:IAO_0000115 "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:5723"^^xsd:string, "OMIM:201100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050605"^^xsd:string ; a owl:Class ; rdfs:label "acrodermatitis enteropathica"^^xsd:string ; rdfs:subClassOf obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050606 obo:IAO_0000115 "A keratosis that has_material_basis_in mutations in the ATP2A2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:101900"^^xsd:string ; oboInOwl:hasExactSynonym "Acrokeratosis verruciformis of Hopf"@en, "Hopf disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050606"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrokeratosis verruciformis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050608 obo:IAO_0000115 "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated."^^xsd:string ; oboInOwl:hasExactSynonym "Askin tumor"@en, "Askin tumour"@en, "Askin's tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050608"^^xsd:string ; a owl:Class ; rdfs:label "Askin's tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3369 . obo:DOID_0050610 obo:IAO_0000115 "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050610"^^xsd:string ; a owl:Class ; rdfs:label "oral cavity carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_403, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_0050611 obo:IAO_0000115 "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050611"^^xsd:string ; a owl:Class ; rdfs:label "pharynx carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] ) ] . obo:DOID_0050612 obo:IAO_0000115 "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050612"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_0050613 obo:IAO_0000115 "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050613"^^xsd:string ; a owl:Class ; rdfs:label "bile duct carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_4138, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] ) ] . obo:DOID_0050614 obo:IAO_0000115 "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050614"^^xsd:string ; a owl:Class ; rdfs:label "bronchus carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_0050615 obo:IAO_0000115 "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050615"^^xsd:string ; a owl:Class ; rdfs:label "respiratory system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ) ] . obo:DOID_0050616 oboInOwl:hasAlternativeId "DOID:4755"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050616"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Leydig cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050617 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050617"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Sertoli cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050618 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050618"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Sertoli-Leydig cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050619 obo:IAO_0000115 "A respiratory system cancer that is located_in the paranasal sinuses."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1354"^^xsd:string, "DOID:2442"^^xsd:string, "DOID:2765"^^xsd:string, "DOID:2767"^^xsd:string, "DOID:4689"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010255"^^xsd:string, "NCI:C6014"^^xsd:string, "NCI:C6017"^^xsd:string, "NCI:C6018"^^xsd:string, "NCI:C6019"^^xsd:string, "NCI:C8193"^^xsd:string, "UMLS_CUI:C0280334"^^xsd:string, "UMLS_CUI:C0854995"^^xsd:string, "UMLS_CUI:C1335336"^^xsd:string, "UMLS_CUI:C1335337"^^xsd:string, "UMLS_CUI:C1335340"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the paranasal sinus"@en, "Mucoepidermoid carcinoma of Accessory sinus"@en, "adenoid cystic carcinoma of Accessory sinus"@en, "paranasal sinus adenocarcinoma"@en, "paranasal sinus adenoid cystic carcinoma"@en, "paranasal sinus mucoepidermoid carcinoma"@en, "paranasal sinus squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of paranasal sinus"@en, "squamous cell carcinoma of paranasal sinus"@en ; oboInOwl:id "DOID:0050619"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_1352, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ) ] . obo:DOID_0050620 obo:IAO_0000115 "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050620"^^xsd:string ; a owl:Class ; rdfs:label "infiltrating renal pelvis transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5974 . obo:DOID_0050621 obo:IAO_0000115 "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050621"^^xsd:string ; a owl:Class ; rdfs:label "respiratory system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ) ] . obo:DOID_0050622 obo:IAO_0000115 "An organ system benign neoplasm that is located_in reproductive system organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050622"^^xsd:string ; a owl:Class ; rdfs:label "reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_15 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000990 ] ) ] . obo:DOID_0050623 obo:IAO_0000115 "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050623"^^xsd:string ; a owl:Class ; rdfs:label "bladder benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_0050624 obo:IAO_0000115 "An organ system benign neoplasm located_in gastrointestinal tract organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050624"^^xsd:string ; a owl:Class ; rdfs:label "gastrointestinal system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_0050625 obo:IAO_0000115 "A hepatobiliary benign neoplasm located_in the biliary tract."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4609"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4441"^^xsd:string, "SNOMEDCT_US_2021_03_01:126855001"^^xsd:string, "UMLS_CUI:C0345913"^^xsd:string ; oboInOwl:hasExactSynonym "extrahepatic bile duct neoplasm"@en, "neoplasm of extrahepatic bile ducts"@en, "tumor of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050625"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "biliary tract benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3117, obo:DOID_9741 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001173 ] ) ] . obo:DOID_0050626 obo:IAO_0000115 "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells."^^xsd:string ; oboInOwl:hasExactSynonym "gastrointestinal neuroendocrine tumour"@en, "malignant gastrointestinal neuroendocrine tumor"@en, "malignant gastrointestinal neuroendocrine tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050626"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "gastrointestinal neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0050628 obo:IAO_0000115 "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS604348"^^xsd:string, "ORDO:164736"^^xsd:string ; oboInOwl:hasExactSynonym "familial advanced sleep-phase syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050628"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "advanced sleep phase syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050629 obo:IAO_0000115 "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections."^^xsd:string ; oboInOwl:hasDbXref "GARD:575"^^xsd:string, "ICD10CM:G31.8"^^xsd:string, "OMIM:225750"^^xsd:string, "OMIM:610181"^^xsd:string, "OMIM:610329"^^xsd:string, "OMIM:610333"^^xsd:string, "OMIM:612952"^^xsd:string, "OMIM:615010"^^xsd:string, "OMIM:615846"^^xsd:string, "ORDO:51"^^xsd:string ; oboInOwl:hasExactSynonym "Cree encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050629"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Aicardi-Goutieres syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050630 obo:IAO_0000115 "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10574"^^xsd:string, "MESH:C562664"^^xsd:string, "OMIM:300600"^^xsd:string ; oboInOwl:hasExactSynonym "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM"@en, "Forsius-Eriksson syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050630"^^xsd:string ; a owl:Class ; rdfs:label "Aland Island eye disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050631 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement."^^xsd:string ; oboInOwl:hasDbXref "GARD:5617"^^xsd:string, "MESH:C537047"^^xsd:string, "OMIM:300523"^^xsd:string, "ORDO:59"^^xsd:string ; oboInOwl:hasExactSynonym "AHDS"@en, "ALLAN-HERNDON SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050631"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Allan-Herndon-Dudley syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050632 obo:IAO_0000115 "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."^^xsd:string ; oboInOwl:hasDbXref "GARD:10958"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "MESH:D016115"^^xsd:string, "OMIM:PS203100"^^xsd:string, "ORDO:55"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050632"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "oculocutaneous albinism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050633 obo:IAO_0000115 "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016117"^^xsd:string, "OMIM:300500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050633"^^xsd:string ; a owl:Class ; rdfs:label "ocular albinism"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0050634 obo:IAO_0000115 "An alopecia characterized by the complete loss of hair on the scalp and body."^^xsd:string ; oboInOwl:hasDbXref "GARD:614"^^xsd:string, "OMIM:203655"^^xsd:string ; oboInOwl:hasExactSynonym "ALOPECIA UNIVERSALIS CONGENITA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050634"^^xsd:string ; a owl:Class ; rdfs:label "alopecia universalis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_987, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050635 obo:IAO_0000115 "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:11"^^xsd:string, "ICD10CM:G98"^^xsd:string, "MESH:C536589"^^xsd:string, "OMIM:104290"^^xsd:string, "OMIM:614820"^^xsd:string, "ORDO:2131"^^xsd:string ; oboInOwl:hasExactSynonym "AHC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050635"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "alternating hemiplegia of childhood"^^xsd:string ; rdfs:subClassOf obo:DOID_10969, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050636 obo:IAO_0000115 "An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys."^^xsd:string ; oboInOwl:hasDbXref "GARD:8282"^^xsd:string, "OMIM:105200"^^xsd:string, "ORDO:85450"^^xsd:string ; oboInOwl:hasExactSynonym "AMYLOIDOSIS, FAMILIAL RENAL"@en, "German type amyloidosis"@en, "OSTERTAG TYPE AMYLOIDOSIS"@en, "systemic nonneuropathic amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050636"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial visceral amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050637 obo:IAO_0000115 "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa."^^xsd:string ; oboInOwl:hasDbXref "GARD:2339"^^xsd:string, "OMIM:105120"^^xsd:string, "ORDO:85448"^^xsd:string ; oboInOwl:hasExactSynonym "AGel amyloidosis"^^xsd:string, "AMYLOIDOSIS, MERETOJA TYPE"@en, "Lattice corneal dystrophy type II"^^xsd:string, "gelsolin amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050637"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Finnish type amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050639, obo:DOID_0050736, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ] . obo:DOID_0050638 obo:IAO_0000115 "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050761"^^xsd:string ; oboInOwl:hasDbXref "GARD:656"^^xsd:string, "ICD10CM:E85.82"^^xsd:string, "OMIM:105210"^^xsd:string, "ORDO:85447"^^xsd:string ; oboInOwl:hasExactSynonym "ATTR amyloidosis"^^xsd:string, "ATTRm amyloidosis"^^xsd:string, "Amyloidosis, hereditary, transthyretin-related"@en, "Corino de Andrade's disease"@en, "Familial transthyretin amyloidosis"@en, "TTR amyloidosis"@en, "familial amyloid polyneuropathy"@en, "paramyloidosis"^^xsd:string, "transthyretin-related hereditary amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050638"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "transthyretin amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_114, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ] . obo:DOID_0050639 obo:IAO_0000115 "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis."^^xsd:string ; oboInOwl:hasDbXref "GARD:132"^^xsd:string, "OMIM:PS105250"^^xsd:string, "ORDO:137807"^^xsd:string, "ORDO:353220"^^xsd:string ; oboInOwl:hasExactSynonym "PCA"@en, "familial primary localized cutaneous amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050639"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary cutaneous amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9120 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_0050640 obo:IAO_0000115 "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607095"^^xsd:string ; oboInOwl:hasExactSynonym "spondylometaepiphyseal dysplasia, Menger type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050640"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "anauxetic dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050641 obo:IAO_0000115 "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12916"^^xsd:string, "OMIM:268150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050641"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Rh deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_583 . obo:DOID_0050642 obo:IAO_0000115 "A microcytic anemia characterized by paler than normal blood cells."^^xsd:string ; oboInOwl:hasDbXref "OMIM:206100"^^xsd:string, "OMIM:615234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050642"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypochromic microcytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_11252 . obo:DOID_0050643 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050643"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anonychia congenita"^^xsd:string ; owl:deprecated true . obo:DOID_0050644 obo:IAO_0000115 "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall."^^xsd:string ; oboInOwl:hasDbXref "GARD:8380"^^xsd:string, "MESH:C537440"^^xsd:string, "OMIM:208000"^^xsd:string, "OMIM:614473"^^xsd:string, "ORDO:51608"^^xsd:string ; oboInOwl:hasExactSynonym "generalized arterial calcification of infancy"@en, "idiopathic infantile arterial calcification"@en, "infantile arteriosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050644"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "arterial calcification of infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001637 ] . obo:DOID_0050645 obo:IAO_0000115 "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta."^^xsd:string ; oboInOwl:hasDbXref "GARD:774"^^xsd:string, "MESH:C565942"^^xsd:string, "OMIM:208050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050645"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "arterial tortuosity syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_0050646 obo:IAO_0000115 "A muscle tissue disease characterized by congenital joint contractures of hand and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:786"^^xsd:string, "OMIM:PS108120"^^xsd:string, "ORDO:1147"^^xsd:string, "ORDO:97120"^^xsd:string ; oboInOwl:hasExactSynonym "Arthrogryposis Multiplex Congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050646"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "distal arthrogryposis"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0050647 obo:IAO_0000115 "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:8756"^^xsd:string, "MESH:C535388"^^xsd:string, "OMIM:301835"^^xsd:string, "ORDO:1187"^^xsd:string, "SNOMEDCT_US_2021_03_01:702441001"^^xsd:string, "UMLS_CUI:C0796028"^^xsd:string ; oboInOwl:hasExactSynonym "ARTS"@en, "Lethal ataxia with deafness and optic atrophy"@en, "MRXS18"@en, "MRXSARTS"@en, "fatal X-linked ataxia with deafness and loss of vision"@en, "syndromic X-linked mental retardation 18"@en, "syndromic X-linked mental retardation Arts type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050647"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Arts syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0050648 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108720"^^xsd:string, "OMIM:108721"^^xsd:string, "OMIM:256050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050648"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "atelosteogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0050649 obo:IAO_0000115 "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9595"^^xsd:string, "NCI:C125693"^^xsd:string, "OMIM:209300"^^xsd:string, "ORDO:1195"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypotransferrinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050649"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "atransferrinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050650 obo:IAO_0000115 "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9740"^^xsd:string, "OMIM:607554"^^xsd:string, "OMIM:608583"^^xsd:string, "OMIM:608988"^^xsd:string, "OMIM:611493"^^xsd:string, "OMIM:611494"^^xsd:string, "OMIM:612201"^^xsd:string, "OMIM:612240"^^xsd:string, "OMIM:613055"^^xsd:string, "OMIM:613980"^^xsd:string, "OMIM:614022"^^xsd:string, "OMIM:614049"^^xsd:string, "OMIM:614050"^^xsd:string, "OMIM:615377"^^xsd:string, "OMIM:615378"^^xsd:string, "OMIM:615770"^^xsd:string, "OMIM:PS608583"^^xsd:string, "ORDO:334"^^xsd:string ; oboInOwl:hasExactSynonym "ATFB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050650"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "familial atrial fibrillation"^^xsd:string ; rdfs:subClassOf obo:DOID_0060224, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000226 ] . obo:DOID_0050651 obo:IAO_0000115 "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:802"^^xsd:string, "ICD10CM:Q21.2"^^xsd:string, "ICD9CM:745.6"^^xsd:string, "MESH:D004694"^^xsd:string, "OMIM:600309"^^xsd:string, "OMIM:606215"^^xsd:string, "OMIM:614430"^^xsd:string, "OMIM:614474"^^xsd:string, "ORDO:98722"^^xsd:string, "SNOMEDCT_US_2021_03_01:204322008"^^xsd:string, "UMLS_CUI:C0014116"^^xsd:string ; oboInOwl:hasExactSynonym "AVCD"@en, "AVSD"@en, "ECD"@en, "atrioventricular canal defect"@en, "endocardial cushion defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050651"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "atrioventricular septal defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1681 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_114 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005989 ] ) ] . obo:DOID_0050652 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050652"^^xsd:string ; a owl:Class ; rdfs:label "obsolete soft tissue cancer"^^xsd:string ; owl:deprecated true . obo:DOID_0050653 oboInOwl:hasExactSynonym "nevus of Clark"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050653"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dysplastic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_0050654 obo:IAO_0000115 "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:1602"^^xsd:string, "MESH:C536788"^^xsd:string, "OMIM:218600"^^xsd:string, "ORDO:1223"^^xsd:string, "SNOMEDCT_US_2021_03_01:77608001"^^xsd:string, "UMLS_CUI:C0265308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050654"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Baller-Gerold syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_0050655 obo:IAO_0000115 "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:241850"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050655"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bamforth-Lazarus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_0050656 obo:IAO_0000115 "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12426"^^xsd:string, "OMIM:251290"^^xsd:string, "ORDO:1229"^^xsd:string ; oboInOwl:hasExactSynonym "BLC-PMG"@en, "BLCPMG"@en, "Baraitser-Brett-Piesowicz syndrome"@en, "Baraitser-Reardon syndrome"@en, "PTORCH1"@en, "band-like calcification with simplified gyration and polymicrogyria"@en, "bilateral band-like calcification with polymicrogyria"@en, "microcephaly-intracranial calcification-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050656"^^xsd:string ; a owl:Class ; rdfs:label "pseudo-TORCH syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050657 obo:IAO_0000115 "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5887"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "MESH:D006223"^^xsd:string, "NCI:C3939"^^xsd:string, "OMIM:158350"^^xsd:string, "ORDO:109"^^xsd:string ; oboInOwl:hasExactSynonym "Bannayan-Zonana syndrome"@en, "Cowden syndrome 1"^^xsd:string, "Riley-Smith syndrome"@en, "Ruvalcaba-Myhre-Smith syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bannayan-Riley-Ruvalcaba syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050658 obo:IAO_0000115 "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:149200"^^xsd:string ; oboInOwl:hasExactSynonym "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050658"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bart-Pumphrey syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050659 obo:IAO_0000115 "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537658"^^xsd:string, "OMIM:607483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050659"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "biotin-responsive basal ganglia disease"^^xsd:string ; rdfs:subClassOf obo:DOID_679 . obo:DOID_0050660 obo:IAO_0000115 "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:332"^^xsd:string, "OMIM:123790"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050660"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Beare-Stevenson cutis gyrata syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050661 obo:IAO_0000115 "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:10120"^^xsd:string, "GARD:182"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "MESH:D057826"^^xsd:string, "OMIM:153700"^^xsd:string, "OMIM:153840"^^xsd:string, "OMIM:608161"^^xsd:string, "OMIM:616151"^^xsd:string, "OMIM:616152"^^xsd:string, "ORDO:1243"^^xsd:string, "ORDO:99000"^^xsd:string ; oboInOwl:hasExactSynonym "Best disease"@en, "Best macular dystrophy"@en, "juvenile-onset vitelliform macular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050661"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "vitelliform macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050662 obo:IAO_0000115 "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567518"^^xsd:string, "OMIM:611809"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive bestrophinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050662"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "bestrophinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050663 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:873"^^xsd:string, "OMIM:158810"^^xsd:string ; oboInOwl:hasExactSynonym "benign congenital muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050663"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bethlem myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557 . obo:DOID_0050664 obo:IAO_0000115 "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:10050"^^xsd:string, "OMIM:210370"^^xsd:string ; oboInOwl:hasExactSynonym "Bietti's crystalline dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050664"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bietti crystalline corneoretinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_0050665 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050665"^^xsd:string ; a owl:Class ; rdfs:label "fetal alcohol syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050666 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050666"^^xsd:string ; a owl:Class ; rdfs:label "partial fetal alcohol syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050667 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasExactSynonym "ARND"@en, "static encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050667"^^xsd:string ; a owl:Class ; rdfs:label "alcohol-related neurodevelopmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050668 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasExactSynonym "ARBD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050668"^^xsd:string ; a owl:Class ; rdfs:label "alcohol-related birth defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050669 obo:IAO_0000115 "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050669"^^xsd:string ; a owl:Class ; rdfs:label "spastic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969 . obo:DOID_0050670 obo:IAO_0000115 "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing."^^xsd:string ; oboInOwl:hasDbXref "GARD:10451"^^xsd:string, "OMIM:605388"^^xsd:string ; oboInOwl:hasExactSynonym "hypotonic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050670"^^xsd:string ; a owl:Class ; rdfs:label "ataxic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ] . obo:DOID_0050671 obo:IAO_0000115 "A breast cancer that develops from breast tissue in females."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-15T02:48:20Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050671"^^xsd:string ; a owl:Class ; rdfs:label "female breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0050672 obo:IAO_0000115 "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions."^^xsd:string ; oboInOwl:hasExactSynonym "Athetoid Dyskinetic Cerebral Palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050672"^^xsd:string ; a owl:Class ; rdfs:label "dyskinetic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ] . obo:DOID_0050673 obo:IAO_0000115 "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050673"^^xsd:string ; a owl:Class ; rdfs:label "mixed cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969 . obo:DOID_0050674 obo:IAO_0000115 "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K76.8"^^xsd:string ; oboInOwl:hasExactSynonym "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency"@en, "CBA"@en, "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050674"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital bile acid synthesis defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050675 obo:IAO_0000115 "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:10358"^^xsd:string, "MESH:C567357"^^xsd:string, "OMIM:612292"^^xsd:string ; oboInOwl:hasExactSynonym "Birk-Barel mental retardation dysmorphism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050675"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Birk-Barel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050676 obo:IAO_0000115 "A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:2322"^^xsd:string, "MESH:D058249"^^xsd:string, "OMIM:135150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050676"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Birt-Hogg-Dube syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050677 obo:IAO_0000115 "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:22"^^xsd:string, "MESH:C537633"^^xsd:string, "OMIM:262000"^^xsd:string, "ORDO:123"^^xsd:string, "SNOMEDCT_US_2021_03_01:67817003"^^xsd:string, "UMLS_CUI:C0266006"^^xsd:string ; oboInOwl:hasExactSynonym "BJS"@en, "PTD"@en, "deafness-pili torti-hypogonadism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050677"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bjornstad syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050678 obo:IAO_0000115 "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:304"^^xsd:string, "NCI:C116794"^^xsd:string, "OMIM:186580"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHROCUTANEOUVEAL GRANULOMATOSIS"@en, "BLAUS"@en, "Jabs syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Blau syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050679 obo:IAO_0000115 "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:917"^^xsd:string, "OMIM:303700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050679"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blue cone monochromacy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050680 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:933"^^xsd:string, "OMIM:112310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050680"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Boomerang dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050681 obo:IAO_0000115 "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:936"^^xsd:string, "MESH:C536575"^^xsd:string, "NCI:C157122"^^xsd:string, "OMIM:301900"^^xsd:string, "ORDO:127"^^xsd:string, "SNOMEDCT_US_2021_03_01:21634003"^^xsd:string, "UMLS_CUI:C0265339"^^xsd:string ; oboInOwl:hasExactSynonym "BFLS"@en, "BORJ"@en, "Borjeson syndrome"@en, "MRXSBFL"@en, "intellectual deficiency-epilepsy-endocrine disorders syndrome"@en, "mental retardation, epilepsy, and endocrine disorder"@en, "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050681"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Borjeson-Forssman-Lehmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050682 obo:IAO_0000115 "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601536"^^xsd:string, "ORDO:69739"^^xsd:string ; oboInOwl:hasExactSynonym "NAVAJO BRAINSTEM SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050682"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Athabaskan brainstem dysgenesis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050683 obo:IAO_0000115 "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607475"^^xsd:string ; oboInOwl:hasExactSynonym "Vasterbotten dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050683"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bothnia retinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_0050684 obo:IAO_0000115 "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5950"^^xsd:string, "MESH:C537081"^^xsd:string, "OMIM:211180"^^xsd:string, "ORDO:1270"^^xsd:string, "SNOMEDCT_US_2021_03_01:711153001"^^xsd:string, "UMLS_CUI:C1859405"^^xsd:string ; oboInOwl:hasExactSynonym "BWCNS"@en, "Bowen Hutterite syndrome"@en, "Bowen-Conradi Hutterite syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050684"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bowen-Conradi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050685 obo:IAO_0000115 "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T01:25:14Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7137"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4099"^^xsd:string, "SNOMEDCT_US_2021_03_01:5958006"^^xsd:string, "UMLS_CUI:C0334239"^^xsd:string ; oboInOwl:hasExactSynonym "Small cell carcinoma - intermediate cell"@en, "Small cell carcinoma, intermediate cell"@en, "intermediate cell small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_0050686 obo:IAO_0000115 "A cancer that is classified based on the organ it starts in."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T03:28:33Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050686"^^xsd:string ; a owl:Class ; rdfs:label "organ system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_162 . obo:DOID_0050687 obo:IAO_0000115 "A cancer that is classified by the type of cell from which it is derived."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T03:28:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050687"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "cell type cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_162 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000000 ] ) ] . obo:DOID_0050688 obo:IAO_0000115 "A large intestine cancer that is located_in the terminal part of the large intestine."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-14T01:34:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050688"^^xsd:string ; a owl:Class ; rdfs:label "anal canal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5672 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000159 ] ) ] . obo:DOID_0050689 obo:IAO_0000115 "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T03:55:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C565193"^^xsd:string, "OMIM:610713"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050689"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "brachydactyly-syndactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050690 obo:IAO_0000115 "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:00:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10903"^^xsd:string, "OMIM:113500"^^xsd:string, "OMIM:271530"^^xsd:string, "OMIM:271630"^^xsd:string, "OMIM:613678"^^xsd:string, "ORDO:1293"^^xsd:string ; oboInOwl:hasExactSynonym "brachyrachia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050690"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "brachyolmia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050691 obo:IAO_0000115 "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:10:18Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3212"^^xsd:string, "OMIM:113620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050691"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "branchiooculofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050692 obo:IAO_0000115 "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:30:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9158"^^xsd:string, "MESH:C536607"^^xsd:string, "OMIM:601003"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050692"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brody myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_913 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001134 ] ) ] . obo:DOID_0050693 obo:IAO_0000115 "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:34:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10179"^^xsd:string, "OMIM:605041"^^xsd:string, "ORDO:79493"^^xsd:string, "SNOMEDCT_US_2021_03_01:703531009"^^xsd:string, "UMLS_CUI:C1857941"^^xsd:string ; oboInOwl:hasExactSynonym "BRSS"@en, "BSS"@en, "CYLD cutaneous syndrome"@en, "SBS"@en, "Spiegler-Brooke Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050693"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brooke-Spiegler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050694 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:38:07Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537111"^^xsd:string, "OMIM:PS211530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050694"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brown-Vialetto-Van Laere syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:C537111"^^xsd:string . obo:DOID_0050695 obo:IAO_0000115 "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-27T09:57:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050695"^^xsd:string ; a owl:Class ; rdfs:label "malignant pleural solitary fibrous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5158 . obo:DOID_0050696 obo:IAO_0000115 "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-12-01T01:01:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050696"^^xsd:string ; a owl:Class ; rdfs:label "fetal alcohol spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050697 obo:IAO_0000115 "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T01:13:08Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050697"^^xsd:string ; a owl:Class ; rdfs:label "chorioamnionitis"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_0050698 obo:IAO_0000115 "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T01:18:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050698"^^xsd:string ; a owl:Class ; rdfs:label "funisitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_0050699 obo:IAO_0000115 "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-03-12T14:32:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13105"^^xsd:string, "MESH:C538212"^^xsd:string, "MESH:C564487"^^xsd:string, "MESH:D057973"^^xsd:string, "NCI:C123260"^^xsd:string, "OMIM:300009"^^xsd:string, "OMIM:300555"^^xsd:string, "ORDO:1652"^^xsd:string, "SNOMEDCT_US_2021_03_01:444645005"^^xsd:string, "SNOMEDCT_US_2021_03_01:717789008"^^xsd:string, "UMLS_CUI:C0878681"^^xsd:string, "UMLS_CUI:C1845167"^^xsd:string, "UMLS_CUI:C1848336"^^xsd:string ; oboInOwl:hasExactSynonym "Dent disease 1"@en, "Dent disease 2"@en, "Dent's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050699"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Dent disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050700 obo:IAO_0000115 "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T02:54:11Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42"^^xsd:string, "ICD9CM:425"^^xsd:string, "ICD9CM:425.9"^^xsd:string, "MESH:D009202"^^xsd:string, "NCI:C34830"^^xsd:string, "NCI:C53654"^^xsd:string, "SNOMEDCT_US_2021_03_01:266301006"^^xsd:string, "SNOMEDCT_US_2021_03_01:89461002"^^xsd:string, "SNOMEDCT_US_2021_03_01:89600009"^^xsd:string, "UMLS_CUI:C0033141"^^xsd:string, "UMLS_CUI:C0036529"^^xsd:string, "UMLS_CUI:C0878544"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiomyopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050700"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:D009202 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_0050701 obo:IAO_0000115 "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:42:46Z"^^xsd:string ; oboInOwl:hasExactSynonym "electro-clinical syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050701"^^xsd:string ; a owl:Class ; rdfs:label "electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_0050702 obo:IAO_0000115 "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050702"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "neonatal period electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050703 obo:IAO_0000115 "An electroclinical syndrome with onset in infancy occurring between birth and one year of age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050703"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "infancy electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050704 obo:IAO_0000115 "An electroclinical syndrome with onset in childhood between one and 12 years of age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050704"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "childhood electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070309, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050705 obo:IAO_0000115 "An electroclinical syndrome with onset in adolescence and adulthood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050705"^^xsd:string ; a owl:Class ; rdfs:label "adolescence-adult electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070309, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:HP_0003581 obo:HP_0011462 ) ] ] . obo:DOID_0050706 obo:IAO_0000115 "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050706"^^xsd:string ; a owl:Class ; rdfs:label "variable age at onset electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050707 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T01:42:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050707"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonsyndromic epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_0050708 obo:IAO_0000115 "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T02:29:04Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050708"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "early onset absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050709 obo:IAO_0000115 "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-10T10:02:58Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2481"^^xsd:string ; oboInOwl:hasDbXref "GARD:9255"^^xsd:string, "ORDO:1934"^^xsd:string ; oboInOwl:hasExactSynonym "Early Infantile Epileptic Encephalopathy with Burst-Suppression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050709"^^xsd:string ; a owl:Class ; rdfs:label "early infantile epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050702 . obo:DOID_0050710 obo:IAO_0000115 "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T10:32:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10954"^^xsd:string, "OMIM:PS210200"^^xsd:string, "ORDO:6"^^xsd:string ; oboInOwl:hasExactSynonym "3-Methylcrotonylglycinuria"@en, "3MCC deficiency"@en, "BMCC deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050710"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080000, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003202 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9252 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_0050711 obo:IAO_0000115 "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T11:47:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9499"^^xsd:string, "OMIM:604290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050711"^^xsd:string ; a owl:Class ; rdfs:label "aceruloplasminemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2351, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050712 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T11:53:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612718"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 3"@en, "arginine:glycine amidinotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050712"^^xsd:string ; a owl:Class ; rdfs:label "AGAT deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050798, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050713 obo:IAO_0000115 "A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T01:03:41Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:1561"^^xsd:string ; oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency"@en, "fatal infantile COX deficiency"@en, "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"@en, "fatal infantile cytochrome C oxidase deficiency"@en, "fatal infantile encephalocardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050713"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0050715 obo:IAO_0000115 "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277400"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin C deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050715"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblC"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050716 obo:IAO_0000115 "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277410"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin D deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050716"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblD"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050717 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277380"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin F deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050717"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblF"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050718 obo:IAO_0000115 "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-11T02:44:53Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050718"^^xsd:string ; a owl:Class ; rdfs:label "vitamin metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0050719 obo:IAO_0000115 "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-11T02:58:59Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050719"^^xsd:string ; a owl:Class ; rdfs:label "cerebral folate receptor alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050720 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:238970"^^xsd:string ; oboInOwl:hasExactSynonym "HHH syndrome"@en, "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050720"^^xsd:string ; a owl:Class ; rdfs:label "ornithine translocase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29189 ] . obo:DOID_0050721 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050721"^^xsd:string ; a owl:Class ; rdfs:label "serine deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050722 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566618"^^xsd:string, "OMIM:601815"^^xsd:string ; oboInOwl:hasExactSynonym "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050722"^^xsd:string ; a owl:Class ; rdfs:label "PHGDH deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050723 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610992"^^xsd:string ; oboInOwl:hasExactSynonym "Phosphoserine aminotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050723"^^xsd:string ; a owl:Class ; rdfs:label "PSAT deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050724 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614023"^^xsd:string ; oboInOwl:hasExactSynonym "PSPHD"@en, "Phosphoserine phosphatase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050724"^^xsd:string ; a owl:Class ; rdfs:label "PSPH deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050725 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276600"^^xsd:string ; oboInOwl:hasExactSynonym "Oculocutaneous tyrosinemia"@en, "Richner-Hanhart syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050725"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_409, obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000972 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000314 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9252 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_0050726 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-06T02:55:45Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276700"^^xsd:string ; oboInOwl:hasExactSynonym "hepatorenal tyrosinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050726"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ] . obo:DOID_0050727 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-06T02:55:45Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276710"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050727"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type III"^^xsd:string ; rdfs:subClassOf obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ] . obo:DOID_0050728 obo:IAO_0000115 "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-13T10:42:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050728"^^xsd:string ; a owl:Class ; rdfs:label "glycogen metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_0050729 obo:IAO_0000115 "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T12:31:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:275630"^^xsd:string ; oboInOwl:hasExactSynonym "Chanarin-Dorfman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050729"^^xsd:string ; a owl:Class ; rdfs:label "neutral lipid storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0050730 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T12:58:37Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10423"^^xsd:string, "OMIM:PS607426"^^xsd:string ; oboInOwl:hasExactSynonym "COENZYME Q10 DEFICIENCY, PRIMARY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050730"^^xsd:string ; a owl:Class ; rdfs:label "coenzyme Q10 deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0050731 obo:IAO_0000115 "A vitamin metabolic disorder that results from low blood levels of vitamin B12."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:01:29Z"^^xsd:string ; oboInOwl:hasExactSynonym "cobalamin deficiency"@en, "hypocobalaminemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050731"^^xsd:string ; a owl:Class ; rdfs:label "vitamin B12 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0040126 ] . obo:DOID_0050732 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:42:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050732"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblE"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050733 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:42:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050733"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblG"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050734 obo:IAO_0000115 "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:52:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:261000"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary intrinsic factor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050734"^^xsd:string ; a owl:Class ; rdfs:label "congenital intrinsic factor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050731, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050735 obo:IAO_0000115 "A monogenic disease that has_material_basis_in muations in genes on the X chromosome."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:47:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050735"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "X-linked monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] ) ] . obo:DOID_0050736 obo:IAO_0000115 "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050736"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ) ] . obo:DOID_0050737 obo:IAO_0000115 "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050737"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ) ] . obo:DOID_0050738 obo:IAO_0000115 "A monogenic disease that has_material_basis_in muations on the Y chromosome."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050738"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "Y-linked monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] ) ] . obo:DOID_0050739 obo:IAO_0000115 "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T04:45:53Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050739"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "autosomal genetic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] ) ] . obo:DOID_0050740 obo:IAO_0000115 "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-08-10T01:08:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:371"^^xsd:string, "MESH:C536259"^^xsd:string, "OMIM:600096"^^xsd:string ; oboInOwl:hasExactSynonym "Dysharmonic skeletal maturation - muscular fibre disproportion"@en, "Qazi-Markouizos syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050740"^^xsd:string ; a owl:Class ; rdfs:label "Qazi Markouizos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0005832 ] . obo:DOID_0050741 obo:IAO_0000115 "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-05T11:48:42Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003829"^^xsd:string, "KEGG:05034"^^xsd:string, "OMIM:103780"^^xsd:string, "SNOMEDCT_US_2020_03_01:66590003"^^xsd:string ; oboInOwl:hasExactSynonym "alcoholism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050741"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcohol dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9973, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050742 obo:IAO_0000115 "A substance dependence that is characterized by a physical dependence on nicotine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-05T11:48:42Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003768"^^xsd:string, "ICD10CM:F17"^^xsd:string, "MESH:D014029"^^xsd:string, "NCI:C54203"^^xsd:string, "SNOMEDCT_US_2021_03_01:56294008"^^xsd:string, "UMLS_CUI:C0028043"^^xsd:string ; oboInOwl:hasExactSynonym "tobacco use disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050742"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nicotine dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9973 . obo:DOID_0050743 obo:IAO_0000115 "A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:56:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "NK-T cell lymphoma"@en, "mature T-cell and natural killer cell lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050743"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mature T-cell and NK-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060060 . obo:DOID_0050744 obo:IAO_0000115 "A non-Hodgkin lymphoma involving aberrant T-cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:57:40Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050744"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic large cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060060 . obo:DOID_0050745 obo:IAO_0000115 "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:58:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3178"^^xsd:string, "MESH:D016403"^^xsd:string ; oboInOwl:hasExactSynonym "DLBCL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050745"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050746 obo:IAO_0000115 "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6969"^^xsd:string, "MESH:D020522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050746"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mantle cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050747 obo:IAO_0000115 "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050747"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "lymphoplasmacytic lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050748 obo:IAO_0000115 "A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasExactSynonym "marginal zone lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050748"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "marginal zone B-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060058 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000845 ] ) ] . obo:DOID_0050749 obo:IAO_0000115 "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:01:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7368"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050749"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "peripheral T-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050743 . obo:DOID_0050750 obo:IAO_0000115 "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:03:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050750"^^xsd:string ; a owl:Class ; rdfs:label "splenic marginal zone lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050748, obo:DOID_672, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] . obo:DOID_0050751 obo:IAO_0000115 "A T-cell lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:05:41Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9831/3"^^xsd:string, "NCI:C4664"^^xsd:string ; oboInOwl:hasExactSynonym "Large granular lymphocytic leukaemia"@en, "Large granular lymphocytic leukemia"@en, "T-cell large granular lymphocyte leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050751"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "T-cell large granular lymphocyte leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_715 . obo:DOID_0050752 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20."^^xsd:string ; oboInOwl:hasDbXref "GARD:10499"^^xsd:string, "OMIM:608627"^^xsd:string ; oboInOwl:hasExactSynonym "ALS8"@en, "amyotrophic lateral sclerosis 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050752"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0050753 obo:IAO_0000115 "A hereditary ataxia that is characterized by ataxia originating in the cerebellum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050753"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050951, obo:DOID_2786, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_0050754 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9283"^^xsd:string, "OMIM:208920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050754"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050755 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050755"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050756 oboInOwl:creation_date "2013-01-16T01:15:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050756"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "obsolete CLN3 disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050757 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:20:50Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050867"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535808"^^xsd:string, "OMIM:304700"^^xsd:string, "ORDO:3213"^^xsd:string ; oboInOwl:hasExactSynonym "Deafness Dystonia Optic Atrophy Syndrome"@en, "Deafness Dystonia Optic Neuronopathy Syndrome"@en, "Dystonia Deafness Syndrome"@en, "Jensen syndrome"@en, "Mohr-Tranebjaerg Syndrome"@en, "Mohr-Tranebjaerg syndrome"@en, "deafness dystonia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050757"^^xsd:string ; a owl:Class ; rdfs:label "deafness-dystonia-optic neuronopathy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050758 obo:IAO_0000115 "An acquired metabolic disease that characterized by excessive production of acid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:23:37Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050758"^^xsd:string ; a owl:Class ; rdfs:label "metabolic acidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050759 obo:IAO_0000115 "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:27:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9728"^^xsd:string, "ICD10CM:G71.1"^^xsd:string, "ICD9CM:359.2"^^xsd:string, "MESH:D020967"^^xsd:string, "NCI:C84913"^^xsd:string, "OMIM:602668"^^xsd:string, "ORDO:606"^^xsd:string, "SNOMEDCT_US_2021_03_01:155096007"^^xsd:string, "UMLS_CUI:C0553604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myotonic dystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_450, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050760 obo:IAO_0000115 "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:29:01Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3892"^^xsd:string, "OMIM:310440"^^xsd:string ; oboInOwl:hasExactSynonym "XMEA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050760"^^xsd:string ; a owl:Class ; rdfs:label "X-linked myopathy with excessive autophagy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050761 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:30:21Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050761"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paramyloidosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050762 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:42:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:550"^^xsd:string, "OMIM:103050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050762"^^xsd:string ; a owl:Class ; rdfs:label "adenylosuccinase lyase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050763 obo:IAO_0000115 "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:46:38Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS208085"^^xsd:string, "ORDO:2697"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS"@en, "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"@en, "Arthrogryposis-renal dysfunction-cholestasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050763"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "ARC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050764 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:48:15Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300261"^^xsd:string, "ORDO:85276"^^xsd:string ; oboInOwl:hasExactSynonym "Armfield X-linked mental retardation syndrome"@en, "MRXSA"@en, "X-linked intellectual disability, Armfield type"@en, "mental retardation syndrome, X-linked, Armfield type"@en, "syndromic X-linked mental retardation Armfield type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050764"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Armfield syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0050765 obo:IAO_0000115 "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:54:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10902"^^xsd:string, "MESH:D054546"^^xsd:string, "ORDO:263440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050765"^^xsd:string ; a owl:Class ; rdfs:label "neuroacanthocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050766 obo:IAO_0000115 "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:54:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3956"^^xsd:string, "MESH:D054546"^^xsd:string, "NCI:C84926"^^xsd:string, "OMIM:200150"^^xsd:string, "ORDO:2388"^^xsd:string, "SNOMEDCT_US_2021_03_01:26848004"^^xsd:string, "UMLS_CUI:C0393576"^^xsd:string ; oboInOwl:hasExactSynonym "Levine-Critchley syndrome"@en, "choreo-acanthocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choreaacanthocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050767 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:19:14Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050767"^^xsd:string ; a owl:Class ; rdfs:label "midface dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050768 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:26:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:604273"^^xsd:string, "ORDO:254913"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050768"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050769 obo:IAO_0000115 "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:32:26Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3902"^^xsd:string, "OMIM:310465"^^xsd:string, "ORDO:2608"^^xsd:string ; oboInOwl:hasExactSynonym "NSX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050769"^^xsd:string ; a owl:Class ; rdfs:label "N syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050770 obo:IAO_0000115 "A liver disease that is characterized by the presence of multiple cysts located_in the liver."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:36:13Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1173"^^xsd:string ; oboInOwl:hasDbXref "GARD:9457"^^xsd:string, "OMIM:174050"^^xsd:string ; oboInOwl:hasExactSynonym "congenital cystic liver disease"@en, "congenital hepatic cyst"@en, "fibrocystic liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050770"^^xsd:string ; a owl:Class ; rdfs:label "polycystic liver disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050771 obo:IAO_0000115 "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:40:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7385"^^xsd:string, "MESH:D010673"^^xsd:string, "OMIM:171300"^^xsd:string ; oboInOwl:hasExactSynonym "phaeochromocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050771"^^xsd:string ; a owl:Class ; rdfs:label "pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089 . obo:DOID_0050772 obo:IAO_0000115 "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-17T14:42:06Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050772"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050773 obo:IAO_0000115 "A pheochromocytoma that arises in extraadrenal sympathetic ganglia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:51:57Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010235"^^xsd:string, "NCI:C3308"^^xsd:string, "OMIM:115310"^^xsd:string, "OMIM:168000"^^xsd:string, "OMIM:601650"^^xsd:string, "OMIM:605373"^^xsd:string, "OMIM:614165"^^xsd:string, "OMIM:PS168000"^^xsd:string, "SNOMEDCT_US_2021_03_01:302833002"^^xsd:string, "UMLS_CUI:C0030421"^^xsd:string ; oboInOwl:hasExactSynonym "chemodectoma"@en, "glomus body tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050773"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "paraganglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050771, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050774 obo:IAO_0000115 "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:56:15Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4637"^^xsd:string, "MESH:C535288"^^xsd:string, "OMIM:266280"^^xsd:string, "ORDO:3021"^^xsd:string, "SNOMEDCT_US_2021_03_01:702413000"^^xsd:string, "UMLS_CUI:C1849453"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050774"^^xsd:string ; a owl:Class ; rdfs:label "rapadilino syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050775 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T12:00:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:169"^^xsd:string, "MESH:C536637"^^xsd:string, "OMIM:269250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050775"^^xsd:string ; a owl:Class ; rdfs:label "schneckenbecken dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050776 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T12:06:40Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300716"^^xsd:string, "OMIM:PS309530"^^xsd:string, "ORDO:777"^^xsd:string ; oboInOwl:hasExactSynonym "non-specific X-linked mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050776"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "non-syndromic X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050777 obo:IAO_0000115 "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-04-04T11:25:32Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6802"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "OMIM:PS213300"^^xsd:string, "ORDO:475"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050777"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Joubert syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060340, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050778 obo:IAO_0000115 "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-04-04T11:28:16Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3436"^^xsd:string, "ICD9CM:753.1"^^xsd:string, "OMIM:PS249000"^^xsd:string, "ORDO:564"^^xsd:string, "SNOMEDCT_US_2021_03_01:204954005"^^xsd:string, "UMLS_CUI:C0311245"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel-Gruber syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050778"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Meckel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060340 . obo:DOID_0050779 obo:IAO_0000115 "A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-06-24T12:50:06Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6683"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "MESH:C536079"^^xsd:string, "OMIM:PS236680"^^xsd:string, "ORDO:2189"^^xsd:string ; oboInOwl:hasExactSynonym "Salonen-Herva-Norio syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050779"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hydrolethalus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050780 obo:IAO_0000115 "A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-06-24T01:18:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:193"^^xsd:string, "KEGG:H00583"^^xsd:string, "OMIM:PS300000"^^xsd:string ; oboInOwl:hasExactSynonym "Opitz G/BBB Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050780"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "Opitz-GBBB syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050781 obo:IAO_0000115 "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-07-17T10:18:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300855"^^xsd:string ; oboInOwl:hasExactSynonym "N-alpha-acetyltransferase"@en, "N-terminal acetyltransferase deficiency"@en, "OGDNS"@en, "X-linked Malformation and Infantile Lethality Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050781"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Ogden syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050782 obo:IAO_0000115 "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-10-23T12:51:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7918"^^xsd:string, "ICD10CM:E16.4"^^xsd:string, "MESH:D015043"^^xsd:string, "NCI:C3453"^^xsd:string, "SNOMEDCT_US_2021_03_01:267477002"^^xsd:string, "UMLS_CUI:C0043515"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Zollinger-Ellison syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050783 obo:IAO_0000115 "A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:22:49Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:425500002"^^xsd:string, "UMLS_CUI:C0751965"^^xsd:string ; oboInOwl:hasExactSynonym "SPMS"@en, "Secondary-progressive MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050783"^^xsd:string ; a owl:Class ; rdfs:label "secondary progressive multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050784 obo:IAO_0000115 "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:26:58Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:428700003"^^xsd:string, "UMLS_CUI:C0751964"^^xsd:string ; oboInOwl:hasExactSynonym "PPMS"@en, "Primary-progressive MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050784"^^xsd:string ; a owl:Class ; rdfs:label "primary progressive multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050785 obo:IAO_0000115 "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:32:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:724778008"^^xsd:string, "UMLS_CUI:C0393666"^^xsd:string ; oboInOwl:hasExactSynonym "PRMS"@en, "Progressive-relapsing MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050785"^^xsd:string ; a owl:Class ; rdfs:label "progressive relapsing multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050786 obo:IAO_0000115 "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T10:28:51Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:137600"^^xsd:string, "OMIM:601631"^^xsd:string, "ORDO:98634"^^xsd:string ; oboInOwl:hasExactSynonym "IGDS"@en, "IRID 1"@en, "IRID 2"@en, "iridogoniodysgenesis type 1"@en, "iridogoniodysgenesis type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050786"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "iridogoniodysgenesis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_240, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050787 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:25:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3065"^^xsd:string, "OMIM:174900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050787"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim ; a owl:Class ; rdfs:label "juvenile polyposis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0050788 obo:IAO_0000115 "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:43:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8182"^^xsd:string, "KEGG:H00484"^^xsd:string, "OMIM:PS185800"^^xsd:string, "ORDO:3250"^^xsd:string ; oboInOwl:hasExactSynonym "Cushing's symphalangism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050788"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "proximal symphalangism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080001, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050789 obo:IAO_0000115 "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:50:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:186570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050789"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "tarsal-carpal coalition syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050790 obo:IAO_0000115 "A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:21:56Z"^^xsd:string ; oboInOwl:hasDbXref "KEGG:H00467"^^xsd:string, "MESH:C537931"^^xsd:string, "OMIM:228900"^^xsd:string, "ORDO:2639"^^xsd:string ; oboInOwl:hasExactSynonym "Du Pan syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050790"^^xsd:string ; a owl:Class ; rdfs:label "fibular hypoplasia and complex brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050791 obo:IAO_0000115 "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:26:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8435"^^xsd:string, "MESH:C536665"^^xsd:string, "NCI:C120188"^^xsd:string, "OMIM:261550"^^xsd:string, "SNOMEDCT_US_2021_03_01:702358005"^^xsd:string, "UMLS_CUI:C1849930"^^xsd:string ; oboInOwl:hasExactSynonym "persistent Muellerian duct syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "persistent Mullerian duct syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3765, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000991 ] ) ] . obo:DOID_0050792 obo:IAO_0000115 "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:38:33Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563977"^^xsd:string, "OMIM:600195"^^xsd:string, "ORDO:2451"^^xsd:string, "SNOMEDCT_US_2021_03_01:699301008"^^xsd:string, "UMLS_CUI:C1838437"^^xsd:string ; oboInOwl:hasExactSynonym "VMCM"@en, "mucocutaneous venous malformations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050792"^^xsd:string ; a owl:Class ; rdfs:label "multiple cutaneous and mucosal venous malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, obo:DOID_866, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ], [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001638 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050793 obo:IAO_0000115 "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:59:42Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609620"^^xsd:string, "OMIM:609621"^^xsd:string, "OMIM:609622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050793"^^xsd:string ; a owl:Class ; rdfs:label "short QT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000287 ] . obo:DOID_0050794 obo:IAO_0000115 "A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T01:08:42Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:186500"^^xsd:string, "OMIM:610017"^^xsd:string, "OMIM:612961"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050794"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "multiple synostoses syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0050795 obo:IAO_0000115 "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T01:19:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11897"^^xsd:string, "OMIM:180020"^^xsd:string, "OMIM:610024"^^xsd:string, "OMIM:610356"^^xsd:string, "OMIM:610478"^^xsd:string, "OMIM:613093"^^xsd:string ; oboInOwl:hasExactSynonym "retinal cone dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050795"^^xsd:string ; a owl:Class ; rdfs:label "cone dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 ; skos:exactMatch "MESH:D000077765"^^xsd:string . obo:DOID_0050796 obo:IAO_0000115 "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-20T03:01:06Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:456"^^xsd:string, "MESH:C536010"^^xsd:string, "OMIM:200450"^^xsd:string, "SNOMEDCT_US_2021_03_01:718573009"^^xsd:string, "UMLS_CUI:C1860212"^^xsd:string ; oboInOwl:hasExactSynonym "ACHALASIA-MICROCEPHALY SYNDROME"@en, "Achalasia microcephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050796"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "achalasia microcephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050797 obo:IAO_0000115 "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T10:47:41Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536662"^^xsd:string, "NCI:C170437"^^xsd:string, "OMIM:264470"^^xsd:string, "SNOMEDCT_US_2021_03_01:238069004"^^xsd:string, "UMLS_CUI:C1849678"^^xsd:string ; oboInOwl:hasExactSynonym "Peroxisomal acyl-coenzyme A oxidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050797"^^xsd:string ; a owl:Class ; rdfs:label "peroxisomal acyl-CoA oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0050798 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050798"^^xsd:string ; a owl:Class ; rdfs:label "cerebral creatine deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050799 obo:IAO_0000115 "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2578"^^xsd:string, "MESH:C537622"^^xsd:string, "OMIM:612736"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 2"@en, "GAMT deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050799"^^xsd:string ; a owl:Class ; rdfs:label "guanidinoacetate methyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050798 . obo:DOID_0050800 obo:IAO_0000115 "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300352"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 1"@en, "SLC6A8 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050800"^^xsd:string ; a owl:Class ; rdfs:label "creatine transporter deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050798 . obo:DOID_0050801 obo:IAO_0000115 "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:48:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9269"^^xsd:string, "OMIM:109200"^^xsd:string, "OMIM:300710"^^xsd:string, "OMIM:612421"^^xsd:string ; oboInOwl:hasExactSynonym "alopecia androgenetica, male pattern baldness"@en, "androgenetic alopecia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050801"^^xsd:string ; a owl:Class ; rdfs:label "androgenic alopecia"^^xsd:string ; rdfs:subClassOf obo:DOID_987 . obo:DOID_0050802 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T11:55:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615349"^^xsd:string, "ORDO:75496"^^xsd:string, "SNOMEDCT_US_2021_03_01:720861000"^^xsd:string, "UMLS_CUI:C1869122"^^xsd:string ; oboInOwl:hasExactSynonym "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2"@en, "Ehlers-Danlos syndrome progeroid type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "XGPT deficiency"@en, "defective biosynthesis of proteodermatan sulfate"@en, "xylosylprotein 4-beta-galactosyltransferase deficiency"@en ; oboInOwl:id "DOID:0050802"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050803 obo:IAO_0000115 "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050803"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma classical subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050804 obo:IAO_0000115 "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050804"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "glioblastoma proneural subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050805 obo:IAO_0000115 "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050805"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma mesenchymal subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050806 obo:IAO_0000115 "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050806"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma neural subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050807 obo:IAO_0000115 "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T02:28:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612713"^^xsd:string, "ORDO:168972"^^xsd:string ; oboInOwl:hasExactSynonym "KHRZ"@en, "intellectual disability, Kahrizi type"@en, "intellectual disability-cataract-coloboma-kyphosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050807"^^xsd:string ; a owl:Class ; rdfs:label "Kahrizi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050809 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T02:56:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:601492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050809"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis IX"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_0050810 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T03:46:44Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C531633"^^xsd:string ; oboInOwl:hasExactSynonym "B7 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050810"^^xsd:string ; a owl:Class ; rdfs:label "biotin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0050811 obo:IAO_0000115 "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T12:52:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1465"^^xsd:string, "GARD:1467"^^xsd:string, "ICD10CM:E25"^^xsd:string, "ICD9CM:255.2"^^xsd:string, "OMIM:201710"^^xsd:string, "OMIM:201810"^^xsd:string, "OMIM:201910"^^xsd:string, "OMIM:202010"^^xsd:string, "OMIM:202110"^^xsd:string, "ORDO:418"^^xsd:string, "SNOMEDCT_US_2021_03_01:154706003"^^xsd:string, "UMLS_CUI:C0701163"^^xsd:string ; oboInOwl:hasExactSynonym "adrenal hyperplasia 1"@en, "congenital lipoid adrenal hyperplasia"@en, "lipoid CAH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050811"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "congenital adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050812 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T01:24:55Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612847"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia Pakistani type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050812"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, Pakistani type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050813 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T01:30:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:143095"^^xsd:string ; oboInOwl:hasExactSynonym "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS"@en, "CHST3-Related Skeletal Dysplasia"@en, "Humero-spinal dysostosis with congenital heart disease"@en, "Humerospinal Dysostosis"@en, "Humerospinal dysostosis"@en, "Kozlowski Celermajer Tink syndrome"@en, "Omani Type"@en, "Spondyloepiphyseal Dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050813"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with congenital joint dislocations"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000982 ] . obo:DOID_0050814 obo:IAO_0000115 "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T12:12:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9679"^^xsd:string, "MESH:C536958"^^xsd:string, "OMIM:605282"^^xsd:string, "ORDO:363417"^^xsd:string, "SNOMEDCT_US_2021_03_01:777998000"^^xsd:string, "UMLS_CUI:C1854466"^^xsd:string ; oboInOwl:hasExactSynonym "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050814"^^xsd:string ; a owl:Class ; rdfs:label "temtamy preaxial brachydactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050815 obo:IAO_0000115 "An eye and adnexa disease that is located_in the adnexa of the eye."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T12:55:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eye adnexa disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050816 obo:IAO_0000115 "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T01:10:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2781"^^xsd:string, "MESH:C536480"^^xsd:string, "OMIM:236730"^^xsd:string, "OMIM:615112"^^xsd:string, "OMIM:PS236730"^^xsd:string, "ORDO:2704"^^xsd:string ; oboInOwl:hasExactSynonym "Ochoa syndrome"@en, "hydronephrosis with peculiar facial expression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050816"^^xsd:string ; a owl:Class ; rdfs:label "urofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050817 obo:IAO_0000115 "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T01:49:54Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:181"^^xsd:string, "OMIM:248200"^^xsd:string, "OMIM:600110"^^xsd:string, "OMIM:603786"^^xsd:string ; oboInOwl:hasExactSynonym "STARGARDT DISEASE 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050817"^^xsd:string ; a owl:Class ; rdfs:label "Stargardt disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0050818 obo:IAO_0000115 "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T02:48:06Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:275350"^^xsd:string ; oboInOwl:hasExactSynonym "TCN2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050818"^^xsd:string ; a owl:Class ; rdfs:label "transcobalamin II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050731 . obo:DOID_0050819 obo:IAO_0000115 "A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T03:11:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050819"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Matthew-Wood syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050820 obo:IAO_0000115 "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:35:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I44.3"^^xsd:string, "ICD9CM:426.10"^^xsd:string, "MESH:D054537"^^xsd:string, "NCI:C26703"^^xsd:string, "SNOMEDCT_US_2021_03_01:58547007"^^xsd:string, "UMLS_CUI:C0004245"^^xsd:string ; oboInOwl:hasExactSynonym "AV block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 ; skos:exactMatch "MESH:D054537"^^xsd:string . obo:DOID_0050821 obo:IAO_0000115 "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050821"^^xsd:string ; a owl:Class ; rdfs:label "first-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050822 obo:IAO_0000115 "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasExactSynonym "second-degree heart block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050822"^^xsd:string ; a owl:Class ; rdfs:label "second-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050823 obo:IAO_0000115 "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasExactSynonym "complete AV block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050823"^^xsd:string ; a owl:Class ; rdfs:label "third-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050824 obo:IAO_0000115 "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:47:54Z"^^xsd:string ; oboInOwl:hasExactSynonym "SA node"@en, "sinuatrial node"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050824"^^xsd:string ; a owl:Class ; rdfs:label "sinoatrial node disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_10273 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002351 ] ) ] . obo:DOID_0050825 obo:IAO_0000115 "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:53:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050825"^^xsd:string ; a owl:Class ; rdfs:label "endocardium disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002165 ] ) ] . obo:DOID_0050826 obo:IAO_0000115 "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T02:55:24Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13834"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I07"^^xsd:string, "ICD9CM:397.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:49699002"^^xsd:string, "UMLS_CUI:C0264776"^^xsd:string ; oboInOwl:hasExactSynonym "RH. tricuspid valve disease"@en, "Rheumatic disease of tricuspid valve"@en, "Rheumatic tricuspid valve disease"@en, "Tricuspid disease"@en, "disease of tricuspid valve"@en, "rheumatic tricuspid valve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050826"^^xsd:string ; a owl:Class ; rdfs:label "tricuspid valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002134 ] ) ] . obo:DOID_0050827 obo:IAO_0000115 "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T03:03:38Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9814"^^xsd:string ; oboInOwl:hasExactSynonym "rheumatic carditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050827"^^xsd:string ; a owl:Class ; rdfs:label "rheumatic heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050828 obo:IAO_0000115 "A vascular disease that is located_in an artery."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T03:08:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050828"^^xsd:string ; a owl:Class ; rdfs:label "artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001637 ] ) ] . obo:DOID_0050829 obo:IAO_0000115 "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-18T12:20:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050829"^^xsd:string ; a owl:Class ; rdfs:label "pericardium disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] ) ] . obo:DOID_0050830 obo:IAO_0000115 "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-18T12:41:09Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D058729"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050830"^^xsd:string ; a owl:Class ; rdfs:label "peripheral artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_0050831 obo:IAO_0000115 "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:14:57Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10037"^^xsd:string, "MESH:C536841"^^xsd:string, "OMIM:604218"^^xsd:string ; oboInOwl:hasExactSynonym "FENIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050831"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "familial encephalopathy with neuroserpin inclusion bodies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050832 obo:IAO_0000115 "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:29:22Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050832"^^xsd:string ; a owl:Class ; rdfs:label "pyrimidine metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0050833 obo:IAO_0000115 "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:29:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:258900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050833"^^xsd:string ; a owl:Class ; rdfs:label "orotic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050832 . obo:DOID_0050834 obo:IAO_0000115 "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T11:58:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:29"^^xsd:string, "MESH:D058747"^^xsd:string, "NCI:C75100"^^xsd:string, "OMIM:214800"^^xsd:string, "ORDO:138"^^xsd:string, "SNOMEDCT_US_2021_03_01:47535005"^^xsd:string, "UMLS_CUI:C0265354"^^xsd:string, "UMLS_CUI:C2936502"^^xsd:string ; oboInOwl:hasExactSynonym "CHARGE association"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050834"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "CHARGE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:D058747"^^xsd:string . obo:DOID_0050835 obo:IAO_0000115 "A dystonia that affects most or all of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11910"^^xsd:string, "DOID:11911"^^xsd:string, "DOID:11912"^^xsd:string, "DOID:14164"^^xsd:string, "DOID:5159"^^xsd:string, "DOID:531"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "ICD10CM:G24.2"^^xsd:string, "ICD9CM:333.6"^^xsd:string, "ICD9CM:333.8"^^xsd:string, "MESH:D004422"^^xsd:string, "MESH:D020821"^^xsd:string, "NCI:C34564"^^xsd:string, "NCI:C35437"^^xsd:string, "NCI:C35438"^^xsd:string, "NCI:C35527"^^xsd:string, "SNOMEDCT_US_2021_03_01:192852006"^^xsd:string, "SNOMEDCT_US_2021_03_01:192859002"^^xsd:string, "SNOMEDCT_US_2021_03_01:22451001"^^xsd:string, "SNOMEDCT_US_2021_03_01:230321007"^^xsd:string, "SNOMEDCT_US_2021_03_01:267584007"^^xsd:string, "UMLS_CUI:C0013423"^^xsd:string, "UMLS_CUI:C0154674"^^xsd:string, "UMLS_CUI:C0154675"^^xsd:string, "UMLS_CUI:C0393598"^^xsd:string, "UMLS_CUI:C0393601"^^xsd:string, "UMLS_CUI:C0752207"^^xsd:string ; oboInOwl:hasExactSynonym "familial dystonia"@en, "fragments of torsion dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Dystonia 12"^^xsd:string, "Dystonia 12"@en ; oboInOwl:id "DOID:0050835"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C538001 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "generalized dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050836 obo:IAO_0000115 "A dystonia that is localized to a specific part of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6458"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050836"^^xsd:string ; a owl:Class ; rdfs:label "focal dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_543 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001630 ] ) ] . obo:DOID_0050837 obo:IAO_0000115 "A dystonia that involves two or more unrelated body parts."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050837"^^xsd:string ; a owl:Class ; rdfs:label "multifocal dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050838 obo:IAO_0000115 "A dystonia that affects two or more adjacent parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050838"^^xsd:string ; a owl:Class ; rdfs:label "segmental dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050839 obo:IAO_0000115 "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050839"^^xsd:string ; a owl:Class ; rdfs:label "anismus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050840 obo:IAO_0000115 "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10668"^^xsd:string ; oboInOwl:hasExactSynonym "spasmodic torticollis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050840"^^xsd:string ; a owl:Class ; rdfs:label "cervical dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050841 obo:IAO_0000115 "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13467"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:333.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:52008007"^^xsd:string, "UMLS_CUI:C0154676"^^xsd:string ; oboInOwl:hasExactSynonym "organic writer's cramp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050841"^^xsd:string ; a owl:Class ; rdfs:label "focal hand dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002398 ] . obo:DOID_0050842 obo:IAO_0000115 "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050842"^^xsd:string ; a owl:Class ; rdfs:label "oculogyric crisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050843 obo:IAO_0000115 "A focal dystonia that is characterized by distortions of the mouth and tongue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050843"^^xsd:string ; a owl:Class ; rdfs:label "oromandibular dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050844 obo:IAO_0000115 "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050844"^^xsd:string ; a owl:Class ; rdfs:label "spasmodic dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050845 obo:IAO_0000115 "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:33:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050845"^^xsd:string ; a owl:Class ; rdfs:label "cranio-facial dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050846 obo:IAO_0000115 "A multifocal dystonia that involves the arm and leg on the same side of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:39:30Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050846"^^xsd:string ; a owl:Class ; rdfs:label "hemidystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050837 . obo:DOID_0050847 obo:IAO_0000115 "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-20T03:57:22Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.3"^^xsd:string, "ICD9CM:780.57"^^xsd:string, "MESH:D012891"^^xsd:string, "NCI:C26884"^^xsd:string, "SNOMEDCT_US_2021_03_01:206750008"^^xsd:string, "UMLS_CUI:C0037315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050847"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sleep apnea"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_0050848 obo:IAO_0000115 "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-20T03:57:22Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.33"^^xsd:string, "ICD9CM:327.23"^^xsd:string, "MESH:D020181"^^xsd:string, "NCI:C116337"^^xsd:string, "OMIM:107650"^^xsd:string, "SNOMEDCT_US_2021_03_01:194441007"^^xsd:string, "UMLS_CUI:C0520679"^^xsd:string ; oboInOwl:hasExactSynonym "obstructive sleep apnea syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "obstructive sleep apnea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050847 . obo:DOID_0050849 obo:IAO_0000115 "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:26:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050849"^^xsd:string ; a owl:Class ; rdfs:label "periampullary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10022, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050850 obo:IAO_0000115 "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:33:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050850"^^xsd:string ; a owl:Class ; rdfs:label "diabetic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0050851 obo:IAO_0000115 "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:40:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050851"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "glomerulosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_0050852 obo:IAO_0000115 "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:46:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050852"^^xsd:string ; a owl:Class ; rdfs:label "limb ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_326 . obo:DOID_0050853 obo:IAO_0000115 "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:50:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050853"^^xsd:string ; a owl:Class ; rdfs:label "chronic venous insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_10128 . obo:DOID_0050854 obo:IAO_0000115 "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:53:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8472"^^xsd:string, "ICD10CM:M04.2"^^xsd:string, "MEDDRA:10064569"^^xsd:string, "MESH:D056587"^^xsd:string, "NCI:C119054"^^xsd:string, "OMIM:191900"^^xsd:string, "ORDO:575"^^xsd:string, "SNOMEDCT_US_2021_03_01:15123008"^^xsd:string, "UMLS_CUI:C0268390"^^xsd:string ; oboInOwl:hasExactSynonym "MWS"@en, "neutrophilic urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050854"^^xsd:string ; a owl:Class ; rdfs:label "Muckle-Wells syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050855 obo:IAO_0000115 "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:56:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050855"^^xsd:string ; a owl:Class ; rdfs:label "renal fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0050856 obo:IAO_0000115 "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T04:03:08Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050856"^^xsd:string ; a owl:Class ; rdfs:label "oppositional defiant disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_0050857 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss and ovarian failure."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-24T01:56:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2542"^^xsd:string, "OMIM:233400"^^xsd:string, "OMIM:614129"^^xsd:string, "OMIM:614926"^^xsd:string, "OMIM:615300"^^xsd:string, "OMIM:PS233400"^^xsd:string, "ORDO:2855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050857"^^xsd:string ; a owl:Class ; rdfs:label "Perrault syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050858 obo:IAO_0000115 "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-24T02:06:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6985"^^xsd:string, "MESH:C536026"^^xsd:string, "OMIM:602535"^^xsd:string, "ORDO:561"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050858"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Marshall-Smith syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050859 obo:IAO_0000115 "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-29T01:31:08Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050859"^^xsd:string ; a owl:Class ; rdfs:label "hemorrhagic cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_0050860 obo:IAO_0000115 "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:14:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050860"^^xsd:string ; a owl:Class ; rdfs:label "colorectal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4610, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050861 obo:IAO_0000115 "A colorectal carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:16:55Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5105"^^xsd:string, "SNOMEDCT_US_2021_03_01:408645001"^^xsd:string, "UMLS_CUI:C1319315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050861"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "colorectal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080199, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050862 obo:IAO_0000115 "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:25:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050862"^^xsd:string ; a owl:Class ; rdfs:label "pyometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_345, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050863 obo:IAO_0000115 "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-09T02:38:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050863"^^xsd:string ; a owl:Class ; rdfs:label "arteritic anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12010 . obo:DOID_0050864 obo:IAO_0000115 "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-09T02:38:13Z"^^xsd:string ; oboInOwl:hasExactSynonym "non-arteritic anterior ischaemic optic neuropathy"@en, "nonarteritic anterior ischaemic optic neuropathy"@en, "nonarteritic anterior ischemic optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050864"^^xsd:string ; a owl:Class ; rdfs:label "non-arteritic anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12010 . obo:DOID_0050865 obo:IAO_0000115 "A head and neck squamous cell carcinoma that is located_in the tongue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-12T02:38:44Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4648"^^xsd:string, "SNOMEDCT_US_2021_03_01:276952000"^^xsd:string, "UMLS_CUI:C0349566"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tongue squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5520, obo:DOID_8649, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001723 ] . obo:DOID_0050866 obo:IAO_0000115 "An oral cavity cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-12T02:45:04Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7263"^^xsd:string ; oboInOwl:hasExactSynonym "mouth squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050866"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "oral squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_8618, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000165 ] . obo:DOID_0050867 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-03T01:18:20Z"^^xsd:string ; oboInOwl:hasExactSynonym "opticoacoustic nerve atrophy with dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050867"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Jensen syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050868 obo:IAO_0000115 "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:07:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050868"^^xsd:string ; a owl:Class ; rdfs:label "hepatocellular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657, obo:DOID_916, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050869 obo:IAO_0000115 "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:08:30Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050869"^^xsd:string ; a owl:Class ; rdfs:label "villous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_0050870 obo:IAO_0000115 "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:10:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "bronchioalveolar carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050870"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary adenocarcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8800, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050871 obo:IAO_0000115 "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:14:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050871"^^xsd:string ; a owl:Class ; rdfs:label "fibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 ; skos:exactMatch "MESH:D005350"^^xsd:string . obo:DOID_0050872 obo:IAO_0000115 "A lung large cell carcinoma that derives_from neuroendocrine cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:17:11Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050872"^^xsd:string ; a owl:Class ; rdfs:label "large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_0050873 obo:IAO_0000115 "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:24:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2356"^^xsd:string, "MESH:D008224"^^xsd:string, "OMIM:151430"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050873"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "follicular lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050875 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:31:24Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050875"^^xsd:string ; a owl:Class ; rdfs:label "obsolete small cell neuroendocrine carcinoma of the lung"^^xsd:string ; owl:deprecated true . obo:DOID_0050876 obo:IAO_0000115 "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-09T01:28:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6002"^^xsd:string, "MESH:D016767"^^xsd:string, "NCI:C84619"^^xsd:string, "SNOMEDCT_US_2021_03_01:717232005"^^xsd:string, "UMLS_CUI:C0162510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050876"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Caroli disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 . obo:DOID_0050877 obo:IAO_0000115 "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-09T03:35:41Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:260370"^^xsd:string ; oboInOwl:hasExactSynonym "partial pancreatic agenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050877"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "pancreatic agenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_0050878 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-29T01:17:13Z"^^xsd:string ; oboInOwl:hasExactSynonym "Factor I deficiency"@en, "Fibrinogen deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050878"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete CLONE OF congenital afibrinogenemia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0050879 obo:IAO_0000115 "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-04T01:52:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300623"^^xsd:string ; oboInOwl:hasExactSynonym "FXTAS syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050879"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "fragile X-associated tremor/ataxia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050953 . obo:DOID_0050880 obo:IAO_0000115 "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T12:57:12Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070076"^^xsd:string ; oboInOwl:hasDbXref "GARD:10727"^^xsd:string, "OMIM:610443"^^xsd:string, "ORDO:96169"^^xsd:string ; oboInOwl:hasExactSynonym "17q21.31 microdeletion syndrome"@en, "KANSL1-related intellectual disability syndrome"@en, "KdVS"@en, "Koolen-De Vries syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050880"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "Koolen de Vries syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050881 obo:IAO_0000115 "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T02:30:16Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS167320"^^xsd:string, "ORDO:52430"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD"@en, "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050881"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050882 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T03:51:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4953"^^xsd:string, "OMIM:600224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050882"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050883 obo:IAO_0000115 "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T04:09:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13264"^^xsd:string, "OMIM:614559"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050883"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "infantile cerebellar-retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ) ] . obo:DOID_0050884 obo:IAO_0000115 "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T11:44:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5287"^^xsd:string, "OMIM:615512"^^xsd:string ; oboInOwl:hasExactSynonym "Triose phosphate-isomerase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050884"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "triosephosphate isomerase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_4194 . obo:DOID_0050885 obo:IAO_0000115 "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T12:04:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12312"^^xsd:string, "OMIM:614732"^^xsd:string ; oboInOwl:hasExactSynonym "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050885"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "IMAGe syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050886 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T12:18:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5372"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:275900"^^xsd:string, "ORDO:101000"^^xsd:string ; oboInOwl:hasExactSynonym "SPG20"@en, "autosomal recessive spastic paraplegia 20"@en, "autosomal recessive spastic paraplegia Troyer type"@en, "autosomal recessive spastic paraplegia type 20"@en, "childhood-onset spastic paraparesis with distal muscle wasting"@en, "hereditary spastic paraplegia 20"@en, "spastic paraplegia 20"@en, "spastic paraplegia type 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050886"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Troyer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050887 obo:IAO_0000115 "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-11T03:58:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7784"^^xsd:string, "OMIM:107480"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050887"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Townes-Brocks syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050888 obo:IAO_0000115 "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T10:55:32Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050888"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_1059 . obo:DOID_0050889 obo:IAO_0000115 "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T10:57:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613192"^^xsd:string, "OMIM:614202"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050889"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_1059 . obo:DOID_0050890 obo:IAO_0000115 "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T03:29:17Z"^^xsd:string ; oboInOwl:hasExactSynonym "Synucleinopathies"@en, "alpha Synucleinopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050890"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "synucleinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050891 obo:IAO_0000115 "An adrenal adenoma that is a benign tumor of the adrenal cortex."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-04T01:54:59Z"^^xsd:string ; oboInOwl:hasExactSynonym "adrenocortical adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050891"^^xsd:string ; a owl:Class ; rdfs:label "adrenal cortical adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_656 . obo:DOID_0050892 obo:IAO_0000115 "A malignant pheochromocytoma that is characterized by overproduction of adrenaline."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T01:01:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050892"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "adrenal gland pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080347 . obo:DOID_0050893 obo:IAO_0000115 "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T01:53:07Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050893"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050894 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:44:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050894"^^xsd:string ; a owl:Class ; rdfs:label "ameloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003843 ] ) ] ) ] ; skos:exactMatch "MESH:D000564"^^xsd:string . obo:DOID_0050895 obo:IAO_0000115 "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:46:51Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050895"^^xsd:string ; a owl:Class ; rdfs:label "bone ameloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_0050896 obo:IAO_0000115 "A bone carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:50:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050896"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bone squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2762, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050897 obo:IAO_0000115 "A chondrosarcoma that is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:55:07Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050897"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bone chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_0050898 obo:IAO_0000115 "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T03:42:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050898"^^xsd:string ; a owl:Class ; rdfs:label "phalanx chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094, obo:DOID_2602, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000138 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003221 ] . obo:DOID_0050899 obo:IAO_0000115 "A brain stem cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:23:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050899"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "brain stem medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902, obo:DOID_4203 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050902 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] ) ] . obo:DOID_0050900 obo:IAO_0000115 "A spinal chordoma that is located_in the sacrum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:25:16Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050900"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sacrum chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4153 . obo:DOID_0050901 obo:IAO_0000115 "A brain oligodendroglioma located_in the corpus callosum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:26:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050901"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "corpus callosum oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181, obo:DOID_3187, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000128 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002336 ] . obo:DOID_0050902 obo:IAO_0000115 "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:36:37Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060105"^^xsd:string, "DOID:168"^^xsd:string, "DOID:3858"^^xsd:string, "DOID:4981"^^xsd:string ; oboInOwl:hasDbXref "GARD:7005"^^xsd:string, "ICDO:9470/3"^^xsd:string, "MESH:D008527"^^xsd:string, "MESH:D018242"^^xsd:string, "NCI:C27294"^^xsd:string, "NCI:C3222"^^xsd:string, "NCI:C3716"^^xsd:string, "OMIM:155255"^^xsd:string, "SNOMEDCT_US_2021_03_01:189925001"^^xsd:string, "SNOMEDCT_US_2021_03_01:443333004"^^xsd:string, "UMLS_CUI:C0025149"^^xsd:string, "UMLS_CUI:C0206663"^^xsd:string, "UMLS_CUI:C1334410"^^xsd:string ; oboInOwl:hasExactSynonym "CNS PNET"@en, "CPNET"@en, "brain medulloblastoma"@en, "infratentorial primitive neuroectodermal tumor"@en, "localized primitive neuroectodermal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050902"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4706 . obo:DOID_0050903 obo:IAO_0000115 "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-08T16:00:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050903"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "parietal lobe ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14384 . obo:DOID_0050904 obo:IAO_0000115 "A salivary gland cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-08T16:52:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050904"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "salivary gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_8850, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] . obo:DOID_0050905 obo:IAO_0000115 "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-09T14:18:08Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050905"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "inflammatory myofibroblastic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_0050906 obo:IAO_0000115 "A sensory organ benign neoplasm that is located in the eye conjunctiva."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T11:47:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050906"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060096, obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_0050907 obo:IAO_0000115 "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T12:37:37Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050907"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mixed extragonadal germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3306 . obo:DOID_0050908 obo:IAO_0000115 "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T12:51:33Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7132"^^xsd:string, "MESH:D009190"^^xsd:string, "OMIM:614286"^^xsd:string, "UMLS_CUI:C2713368"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050908"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myelodysplastic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4960 . obo:DOID_0050909 obo:IAO_0000115 "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:17:40Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:137245"^^xsd:string ; oboInOwl:hasExactSynonym "mucosa-associated lymphoid tissue lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050909"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "MALT lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050748 . obo:DOID_0050910 obo:IAO_0000115 "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:41:01Z"^^xsd:string ; oboInOwl:hasExactSynonym "caecum adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050910"^^xsd:string ; a owl:Class ; rdfs:label "cecum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1517, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050911 obo:IAO_0000115 "An appendix cancer that has_material_basis_in neurodendocrine cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:45:41Z"^^xsd:string ; oboInOwl:hasExactSynonym "appendix carcinoid endocrine tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050911"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "appendix carcinoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_11239 . obo:DOID_0050912 obo:IAO_0000115 "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:56:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050912"^^xsd:string ; a owl:Class ; rdfs:label "colon adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_235, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050913 obo:IAO_0000115 "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:00:10Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050913"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "large intestine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5672, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050914 obo:IAO_0000115 "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:07:10Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050914"^^xsd:string ; a owl:Class ; rdfs:label "large intestine adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4610, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000059 ] . obo:DOID_0050915 obo:IAO_0000115 "An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:09:51Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050915"^^xsd:string ; a owl:Class ; rdfs:label "rectum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1984, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050916 obo:IAO_0000115 "A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:13:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050916"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bronchus mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] . obo:DOID_0050917 obo:IAO_0000115 "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:36:11Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050917"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lung combined type small cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5421, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050918 obo:IAO_0000115 "A vaginal cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:37:19Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050918"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "vaginal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_119, obo:DOID_305, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0050919 obo:IAO_0000115 "A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:42:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050919"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "trachea mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11920, obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_0050920 obo:IAO_0000115 "A tonsil cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:48:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050920"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "tonsil squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002372 ] . obo:DOID_0050921 obo:IAO_0000115 "A pharynx cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:54:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050921"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "pharynx squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060119, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] . obo:DOID_0050922 obo:IAO_0000115 "A gastrointestinal system cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:56:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050922"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "gastrointestinal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3119, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0050923 obo:IAO_0000115 "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:26:31Z"^^xsd:string ; oboInOwl:hasExactSynonym "SETTLE tumor"@en, "SETTLE tumour"@en, "spindle epithelial tumour with thymus-like differentiation tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050923"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "spindle epithelial tumor with thymus-like differentiation tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3963 . obo:DOID_0050924 obo:IAO_0000115 "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:38:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050924"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "striated muscle rhabdoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4045 . obo:DOID_0050925 obo:IAO_0000115 "A small intestine cancer that has_material_basis_in cells of the neuroendocrine system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:58:08Z"^^xsd:string ; oboInOwl:hasBroadSynonym "'intestinal carcinoid tumour'"^^xsd:string ; oboInOwl:hasDbXref "OMIM:114900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050925"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "small intestine carcinoid neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 . obo:DOID_0050926 obo:IAO_0000115 "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:00:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050926"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "jejunal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13499, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050927 obo:IAO_0000115 "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:02:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050927"^^xsd:string ; a owl:Class ; rdfs:label "duodenum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1737, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] . obo:DOID_0050928 obo:IAO_0000115 "An ovarian cancer that has_material_basis_in melanoctyes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:27:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050928"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_0050929 obo:IAO_0000115 "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:51:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050929"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mucosal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_0050930 obo:IAO_0000115 "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T14:04:40Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050930"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sublingual gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8849 . obo:DOID_0050931 obo:IAO_0000115 "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T14:09:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050931"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "parotid gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9036 . obo:DOID_0050932 obo:IAO_0000115 "A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050932"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lung mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_0050933 obo:IAO_0000115 "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:51:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050933"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian serous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_0050934 obo:IAO_0000115 "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:54:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "clear-cell ovarian carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050934"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian clear cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_0050935 obo:IAO_0000115 "An extracranial neuroblastoma that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T16:02:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050935"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "cervical neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_371 . obo:DOID_0050936 obo:IAO_0000115 "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T10:25:45Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050936"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "extra-adrenal pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080347 . obo:DOID_0050937 obo:IAO_0000115 "A retroperitoneal cancer that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T11:18:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050937"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "retroperitoneal neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5875 . obo:DOID_0050938 obo:IAO_0000115 "A breast carcinoma that derives_from breast lobules (milk glands)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T13:05:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050938"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "breast lobular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0050939 obo:IAO_0000115 "A uterine corpus cancer that is derives_from the inner lining of the uterus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T14:26:22Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050939"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "uterine corpus endometrial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9460 . obo:DOID_0050940 obo:IAO_0000115 "An endocervical carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-24T15:51:48Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050940"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "endocervical adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_7519, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050941 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611302"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050941"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050942 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050942"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050943 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613672"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050943"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050944 obo:IAO_0000115 "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614487"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050944"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050945 obo:IAO_0000115 "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050945"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050946 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4910"^^xsd:string, "MESH:C536787"^^xsd:string, "OMIM:270550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050946"^^xsd:string ; a owl:Class ; rdfs:label "Charlevoix-Saguenay spastic ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050947 obo:IAO_0000115 "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:241530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050947"^^xsd:string ; a owl:Class ; rdfs:label "hereditary hypophosphatemic rickets with hypercalciuria"^^xsd:string ; rdfs:subClassOf obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050948 obo:IAO_0000115 "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:30Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:193100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050948"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050949 obo:IAO_0000115 "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:33Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:241520"^^xsd:string, "OMIM:613312"^^xsd:string, "ORDO:289176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050949"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050950 obo:IAO_0000115 "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:21:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS213200"^^xsd:string, "ORDO:1172"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050950"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050753, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050951 obo:IAO_0000115 "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:38:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6614"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050951"^^xsd:string ; a owl:Class ; rdfs:label "hereditary ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050952 obo:IAO_0000115 "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:39:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050952"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050951 . obo:DOID_0050953 obo:IAO_0000115 "A hereditary ataxia that is characterized by X-linked inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T15:41:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050953"^^xsd:string ; a owl:Class ; rdfs:label "X-linked hereditary ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050951, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050954 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4071"^^xsd:string, "OMIM:164400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050954"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050955 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:183090"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050955"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050956 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10351"^^xsd:string, "OMIM:183086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050956"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050957 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9970"^^xsd:string, "MESH:D020754"^^xsd:string, "OMIM:600223"^^xsd:string, "ORDO:98765"^^xsd:string, "SNOMEDCT_US_2021_03_01:715755008"^^xsd:string, "UMLS_CUI:C0752122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050957"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050958 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:164500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050958"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050959 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:608768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050959"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050960 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10474"^^xsd:string, "OMIM:603516"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050960"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050961 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:604432"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050961"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050962 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:604326"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050962"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050963 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605259"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050963"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050964 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605361"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050964"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050965 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050966"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606658"^^xsd:string ; oboInOwl:hasExactSynonym "spinocerebellar ataxia type 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050965"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050966 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050966"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinocerebellar ataxia type 16"^^xsd:string ; owl:deprecated true . obo:DOID_0050967 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10469"^^xsd:string, "OMIM:607136"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050967"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050968 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12372"^^xsd:string, "OMIM:604121"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050968"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cerebellar ataxia, deafness and narcolepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050969 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9976"^^xsd:string, "OMIM:607458"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050969"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050970 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12365"^^xsd:string, "OMIM:607346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050970"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 19/22"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050971 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9997"^^xsd:string, "OMIM:608687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050971"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050972 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9999"^^xsd:string, "OMIM:607454"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050972"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050973 obo:IAO_0000115 "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610245"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050973"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 23"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050974 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9996"^^xsd:string, "MESH:C537202"^^xsd:string, "OMIM:608703"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050974"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 25"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050975 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9995"^^xsd:string, "MESH:C537203"^^xsd:string, "OMIM:609306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050975"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 26"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050976 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609307"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050976"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 27"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050977 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050977"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 28"^^xsd:string ; rdfs:subClassOf obo:DOID_1441, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0050978 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:117360"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050978"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 29"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050979 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4950"^^xsd:string, "OMIM:613371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050979"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 30"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050980 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:117210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050980"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 31"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050981 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:133190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050981"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 34"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050982 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613908"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050982"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 35"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050983 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050983"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 36"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050984 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615945"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050984"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 37"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050985 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050985"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 38"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050986 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in muation in the CCDC88C gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616053"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050986"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 40"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050987 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050987"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukoencephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050988 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050988"^^xsd:string ; a owl:Class ; rdfs:label "GRID2-related spinocerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050989 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:160120"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050989"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050990 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050990"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050991 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606554"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050991"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050992 obo:IAO_0000115 "An episodic ataxia that is characterized by vertigo and diplopia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050992"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050993 obo:IAO_0000115 "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050993"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050994 obo:IAO_0000115 "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612656"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050994"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050995 obo:IAO_0000115 "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611907"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050995"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_963, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050996 obo:IAO_0000115 "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T13:38:56Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050996"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_963, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050997 obo:IAO_0000115 "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T13:48:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1998"^^xsd:string, "OMIM:224050"^^xsd:string, "OMIM:610185"^^xsd:string, "OMIM:613227"^^xsd:string, "OMIM:615268"^^xsd:string ; oboInOwl:hasExactSynonym "CAMRQ"@en, "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)"^^xsd:string, "Uner Tan syndrome"^^xsd:string, "VLDLR Cerebellar Hypoplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050997"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia, mental retardation and dysequlibrium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050998 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:08:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050998"^^xsd:string ; a owl:Class ; rdfs:label "nonprogressive cerebellar ataxia with mental retardation"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050999 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:43:23Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613728"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050999"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060000 obo:IAO_0000115 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents."^^xsd:string ; oboInOwl:hasDbXref "GARD:6337"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060000"^^xsd:string ; a owl:Class ; rdfs:label "infective endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0060001 obo:IAO_0000115 "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060001"^^xsd:string ; a owl:Class ; rdfs:label "withdrawal disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_303, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0060002 obo:IAO_0000115 "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue."^^xsd:string ; oboInOwl:hasExactSynonym "Quincke edema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060002"^^xsd:string ; a owl:Class ; rdfs:label "C1 inhibitor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060004 obo:IAO_0000115 "An autoimmune hypersensitivity disease located_in the central nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060004"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of central nervous system"^^xsd:string ; rdfs:subClassOf obo:DOID_438 . obo:DOID_0060005 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060005"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of endocrine system"^^xsd:string ; rdfs:subClassOf obo:DOID_28, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000949 ] ) ] . obo:DOID_0060006 obo:IAO_0000115 "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060006"^^xsd:string ; a owl:Class ; rdfs:label "obsolete artemis deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0060007 obo:IAO_0000115 "A severe combined immunodeficiency that affects the development and function of T cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060007"^^xsd:string ; a owl:Class ; rdfs:label "CD3zeta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060008 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600802"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060008"^^xsd:string ; a owl:Class ; rdfs:label "janus kinase-3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060009 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604571"^^xsd:string ; oboInOwl:hasExactSynonym "BLS, TYPE I"@en, "BLSI"@en, "HLA CLASS I DEFICIENCY"@en, "bare lymphocyte syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060009"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "MHC class I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060010 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly."^^xsd:string ; oboInOwl:hasDbXref "GARD:8198"^^xsd:string, "ICD10CM:D81.8"^^xsd:string, "OMIM:603554"^^xsd:string ; oboInOwl:hasExactSynonym "combined immunodeficiency with hypereosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060010"^^xsd:string ; a owl:Class ; rdfs:label "Omenn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060011 obo:IAO_0000115 "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060011"^^xsd:string ; a owl:Class ; rdfs:label "recombinase activating gene 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060012 obo:IAO_0000115 "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060012"^^xsd:string ; a owl:Class ; rdfs:label "recombinase activating gene 2 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060013 obo:IAO_0000115 "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5811"^^xsd:string ; oboInOwl:hasDbXref "GARD:5618"^^xsd:string, "MESH:D053632"^^xsd:string, "NCI:C4682"^^xsd:string, "OMIM:300400"^^xsd:string, "SNOMEDCT_US_2021_03_01:203592006"^^xsd:string, "UMLS_CUI:C1279481"^^xsd:string ; oboInOwl:hasExactSynonym "SCID-X1"@en, "X-Linked Severe Combined Immunodeficiency"@en, "XSCID"@en, "gamma chain deficiency"@en, "thymic epithelial hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "X-linked severe combined immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060014 obo:IAO_0000115 "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060014"^^xsd:string ; a owl:Class ; rdfs:label "CD45 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060015 obo:IAO_0000115 "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."^^xsd:string ; oboInOwl:hasExactSynonym "IL-7R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060015"^^xsd:string ; a owl:Class ; rdfs:label "interleukin-7 receptor alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060016 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development."^^xsd:string ; oboInOwl:hasExactSynonym "CD3D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060016"^^xsd:string ; a owl:Class ; rdfs:label "CD3delta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060017 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060017"^^xsd:string ; a owl:Class ; rdfs:label "CD3epsilon deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060018 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060018"^^xsd:string ; a owl:Class ; rdfs:label "CD3gamma deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060019 obo:IAO_0000115 "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615401"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060019"^^xsd:string ; a owl:Class ; rdfs:label "coronin-1A deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060020 obo:IAO_0000115 "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1226"^^xsd:string ; oboInOwl:hasDbXref "GARD:8625"^^xsd:string, "MESH:C538361"^^xsd:string, "NCI:C27070"^^xsd:string, "OMIM:267500"^^xsd:string, "SNOMEDCT_US_2021_03_01:111584000"^^xsd:string, "UMLS_CUI:C0272167"^^xsd:string ; oboInOwl:hasExactSynonym "De Vaal disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "aleukocytosis"@en ; oboInOwl:id "DOID:0060020"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "reticular dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000777 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000086 ] . obo:DOID_0060021 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606593"^^xsd:string ; oboInOwl:hasExactSynonym "LIG4 Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060021"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "DNA ligase IV deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001510 ] . obo:DOID_0060022 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308230"^^xsd:string ; oboInOwl:hasExactSynonym "HIGMX-1"@en, "X-linked hyper-IgM syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060022"^^xsd:string ; a owl:Class ; rdfs:label "CD40 ligand deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060023 obo:IAO_0000115 "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84783"^^xsd:string, "OMIM:606843"^^xsd:string, "ORDO:101090"^^xsd:string ; oboInOwl:hasExactSynonym "CD40 deficiency"@en, "hyper-IgM syndrome due to CD40 deficiency"@en, "type 3 hyper-IgM immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060023"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper IgM type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060024 obo:IAO_0000115 "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060024"^^xsd:string ; a owl:Class ; rdfs:label "lambda 5 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060025 obo:IAO_0000115 "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor."^^xsd:string ; oboInOwl:hasDbXref "GARD:10197"^^xsd:string, "MESH:D017098"^^xsd:string, "OMIM:137100"^^xsd:string, "OMIM:269650"^^xsd:string, "OMIM:609529"^^xsd:string, "ORDO:69127"^^xsd:string, "SNOMEDCT_US_2021_03_01:29260007"^^xsd:string, "UMLS_CUI:C0162538"^^xsd:string ; oboInOwl:hasExactSynonym "IgA deficiency"@en, "gamma-A-globulin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060025"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "immunoglobulin alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060026 obo:IAO_0000115 "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "IgB deficiency"@en ; oboInOwl:id "DOID:0060026"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin beta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2115 . obo:DOID_0060027 obo:IAO_0000115 "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613502"^^xsd:string ; oboInOwl:hasExactSynonym "B cell linker protein deficiency"@en, "B-cell linker protein deficiency"@en, "BLNK deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060027"^^xsd:string ; a owl:Class ; rdfs:label "agammaglobulinemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060028 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma."^^xsd:string ; oboInOwl:hasExactSynonym "thymoma with hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060028"^^xsd:string ; a owl:Class ; rdfs:label "Good syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_628 . obo:DOID_0060029 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060029"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of exocrine system"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002330 ] ) ] . obo:DOID_0060030 obo:IAO_0000115 "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060030"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of eyes, ear, nose and throat"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_438 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060031 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060031"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of gastrointestinal tract"^^xsd:string ; rdfs:subClassOf obo:DOID_417, obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_0060032 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060032"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of musculoskeletal system"^^xsd:string ; rdfs:subClassOf obo:DOID_17, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060033 obo:IAO_0000115 "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060033"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of peripheral nervous system"^^xsd:string ; rdfs:subClassOf obo:DOID_438, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_0060035 obo:IAO_0000115 "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060035"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medical disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0060036 obo:IAO_0000115 "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060036"^^xsd:string ; a owl:Class ; rdfs:label "intrinsic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0060037 obo:IAO_0000115 "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060037"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "developmental disorder of mental health"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_0060038 obo:IAO_0000115 "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060038"^^xsd:string ; a owl:Class ; rdfs:label "specific developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060037 . obo:DOID_0060039 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060039"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of skin and connective tissue"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_37, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] ) ] . obo:DOID_0060040 obo:IAO_0000115 "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1208"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:299.80"^^xsd:string, "UMLS_CUI:C0154451"^^xsd:string ; oboInOwl:hasExactSynonym "Pervasive Child Development Disorders"^^xsd:string, "pervasive development disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060040"^^xsd:string ; a owl:Class ; rdfs:label "pervasive developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060037 . obo:DOID_0060041 obo:IAO_0000115 "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior."^^xsd:string ; oboInOwl:hasDbXref "GARD:10248"^^xsd:string, "MESH:D000067877"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060041"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "autism spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060040 . obo:DOID_0060042 obo:IAO_0000115 "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism."^^xsd:string ; oboInOwl:hasExactSynonym "PDD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060042"^^xsd:string ; a owl:Class ; rdfs:label "atypical autism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041 . obo:DOID_0060043 obo:IAO_0000115 "A disease of mental health that involves the impairment in normal sexual functioning."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060043"^^xsd:string ; a owl:Class ; rdfs:label "sexual disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_0060044 obo:IAO_0000115 "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060044"^^xsd:string ; a owl:Class ; rdfs:label "paraphilia disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_0060045 obo:IAO_0000115 "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060045"^^xsd:string ; a owl:Class ; rdfs:label "Munchausen by proxy"^^xsd:string ; rdfs:subClassOf obo:DOID_1766 . obo:DOID_0060046 obo:IAO_0000115 "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060046"^^xsd:string ; a owl:Class ; rdfs:label "aphasia"^^xsd:string ; rdfs:subClassOf obo:DOID_93 ; skos:exactMatch "MESH:D001037"^^xsd:string . obo:DOID_0060047 obo:IAO_0000115 "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060047"^^xsd:string ; a owl:Class ; rdfs:label "writing disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8927 . obo:DOID_0060048 obo:IAO_0000115 "A specific phobia that involves an irrational fear of contracting a disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060048"^^xsd:string ; a owl:Class ; rdfs:label "nosophobia"^^xsd:string ; rdfs:subClassOf obo:DOID_599 . obo:DOID_0060049 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060049"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of urogenital tract"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004122 ] ) ] . obo:DOID_0060050 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060050"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "autoimmune disease of blood"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000178 ] ) ] . obo:DOID_0060051 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060051"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of cardiovascular system"^^xsd:string ; rdfs:subClassOf obo:DOID_1287, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_0060052 obo:IAO_0000115 "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neurological disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0060053 obo:IAO_0000115 "A neuropathy that is located_in nerves of the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_0060054 obo:IAO_0000115 "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060054"^^xsd:string ; a owl:Class ; rdfs:label "autonomic peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0060055 obo:IAO_0000115 "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:16:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3242"^^xsd:string, "MESH:C562509"^^xsd:string, "NCI:C118786"^^xsd:string, "OMIM:119500"^^xsd:string, "OMIM:263650"^^xsd:string, "ORDO:1300"^^xsd:string, "ORDO:294963"^^xsd:string, "SNOMEDCT_US_2021_03_01:205820002"^^xsd:string, "UMLS_CUI:C0265259"^^xsd:string ; oboInOwl:hasExactSynonym "facio-genito-popliteal syndrome"@en, "popliteal web syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060055"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "popliteal pterygium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060056 obo:IAO_0000115 "An immune system disease that has_material_basis_in abnormal immune responses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060056"^^xsd:string ; a owl:Class ; rdfs:label "hypersensitivity reaction disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914 . obo:DOID_0060057 obo:IAO_0000115 "A food allergy to wheat that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance."^^xsd:string ; oboInOwl:hasExactSynonym "allergy to gluten"@en, "gluten allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060057"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gluten allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060058 obo:IAO_0000115 "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1033"^^xsd:string, "DOID:353"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C85.9"^^xsd:string, "ICDO:9590/3"^^xsd:string, "MESH:D008223"^^xsd:string, "NCI:C3208"^^xsd:string, "NCI:C7065"^^xsd:string, "SNOMEDCT_US_2021_03_01:118600007"^^xsd:string, "SNOMEDCT_US_2021_03_01:414628006"^^xsd:string, "UMLS_CUI:C0024299"^^xsd:string, "UMLS_CUI:C0598798"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoid cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060058"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_2531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] ) ] . obo:DOID_0060060 obo:IAO_0000115 "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008228"^^xsd:string, "OMIM:605027"^^xsd:string, "ORDO:547"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060060"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "non-Hodgkin lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_0060061 obo:IAO_0000115 "A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6226"^^xsd:string, "MESH:D016410"^^xsd:string ; oboInOwl:hasExactSynonym "cutaneous T-cell lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060061"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cutaneous T cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0060062 obo:IAO_0000115 "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:162000"^^xsd:string, "OMIM:613092"^^xsd:string, "OMIM:614227"^^xsd:string, "ORDO:209886"^^xsd:string, "ORDO:217330"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060062"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "familial juvenile hyperuricemic nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060063 obo:IAO_0000115 "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production."^^xsd:string ; oboInOwl:hasDbXref "GARD:9456"^^xsd:string, "OMIM:300751"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked sideroblastic anaemia"@en, "X-linked sideroblastic anemia"@en, "XLSA"@en, "sideroblastic anaemia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060063"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "sideroblastic anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060064 obo:IAO_0000115 "A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum."^^xsd:string ; oboInOwl:hasExactSynonym "ASAT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060064"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "obsolete sideroblastic anemia with spinocerebellar ataxia"^^xsd:string ; owl:deprecated true . obo:DOID_0060065 obo:IAO_0000115 "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:205950"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2"@en, "pyridoxine-refractory autosomal recessive sideroblastic anaemia"@en, "pyridoxine-refractory autosomal recessive sideroblastic anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060065"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060066 obo:IAO_0000115 "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:206000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060066"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "pyridoxine-responsive sideroblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8955 . obo:DOID_0060067 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:7343"^^xsd:string, "OMIM:557000"^^xsd:string ; oboInOwl:hasExactSynonym "Pearson Marrow-Pancreas Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060067"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Pearson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060068 obo:IAO_0000115 "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-04-13T03:14:26Z"^^xsd:string ; oboInOwl:hasExactSynonym "marantic endocarditis"^^xsd:string, "non-bacterial thrombotic endocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060068"^^xsd:string ; a owl:Class ; rdfs:label "nonbacterial thrombotic endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000262 ] . obo:DOID_0060069 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-04-15T11:41:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060069"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Bacillus cereus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0060071 obo:IAO_0000115 "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T12:18:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060071"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "pre-malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_14566 . obo:DOID_0060072 obo:IAO_0000115 "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T12:18:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060072"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_14566 ; owl:disjointWith obo:DOID_162 . obo:DOID_0060073 obo:IAO_0000115 "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T01:05:14Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060073"^^xsd:string ; a owl:Class ; rdfs:label "lymphatic system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060083, obo:DOID_75 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ) ] . obo:DOID_0060074 obo:IAO_0000115 "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:19:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060074"^^xsd:string ; a owl:Class ; rdfs:label "ductal carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8791 . obo:DOID_0060075 obo:IAO_0000115 "A breast cancer that is characterized by the presence of estrogen receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060075"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "estrogen-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060076 obo:IAO_0000115 "A breast cancer that is characterized by the absence of estrogen receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060076"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "estrogen-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060077 obo:IAO_0000115 "A breast cancer that is characterized by the presence of progesterone receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060077"^^xsd:string ; a owl:Class ; rdfs:label "progesterone-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060078 obo:IAO_0000115 "A breast cancer that is characterized by the absence of progesterone receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060078"^^xsd:string ; a owl:Class ; rdfs:label "progesterone-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060079 obo:IAO_0000115 "A breast cancer that is characterized by the presence of Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060079"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "Her2-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060080 obo:IAO_0000115 "A breast cancer that is characterized by the absence of Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060080"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "Her2-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060081 obo:IAO_0000115 "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060081"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "triple-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060082 obo:IAO_0000115 "A thoracic benign neoplasm that is characterized by lack of malignancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T01:02:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060082"^^xsd:string ; a owl:Class ; rdfs:label "breast benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3463 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] . obo:DOID_0060083 obo:IAO_0000115 "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T01:11:18Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9392/3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060083"^^xsd:string ; a owl:Class ; rdfs:label "immune system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_2914 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002405 ] ) ] . obo:DOID_0060084 obo:IAO_0000115 "A benign neoplasm that is classified by the type of cell or tissue from which it is derived."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T11:59:48Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060084"^^xsd:string ; a owl:Class ; rdfs:label "cell type benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060072 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000000 ] ) ] . obo:DOID_0060085 obo:IAO_0000115 "A benign neoplasm that is classified by the organ system from which it is arising from."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:12:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060085"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "organ system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060072 . obo:DOID_0060086 obo:IAO_0000115 "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:20:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060086"^^xsd:string ; a owl:Class ; rdfs:label "female reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000474 ] ) ] . obo:DOID_0060087 obo:IAO_0000115 "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:20:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060087"^^xsd:string ; a owl:Class ; rdfs:label "male reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ] ) ] . obo:DOID_0060088 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vestibular gland."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:36:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060088"^^xsd:string ; a owl:Class ; rdfs:label "vestibular gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011826 ] ) ] . obo:DOID_0060089 obo:IAO_0000115 "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060089"^^xsd:string ; a owl:Class ; rdfs:label "endocrine organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002368 ] ) ] . obo:DOID_0060090 obo:IAO_0000115 "A nervous system benign neoplasm that is characterized by lack of malignancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060090"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060115, obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_0060091 obo:IAO_0000115 "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060091"^^xsd:string ; a owl:Class ; rdfs:label "cardiovascular organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_0060092 obo:IAO_0000115 "An organ system benign neoplasm located_in the immune system organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:58:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060092"^^xsd:string ; a owl:Class ; rdfs:label "immune system organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005057 ] ) ] . obo:DOID_0060094 obo:IAO_0000115 "A connective tissue benign neoplasm that is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:34:59Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060094"^^xsd:string ; a owl:Class ; rdfs:label "bone benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123, obo:DOID_0080001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ] . obo:DOID_0060095 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the uterus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:42:11Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060113"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060095"^^xsd:string ; a owl:Class ; rdfs:label "uterine benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] ) ] . obo:DOID_0060096 obo:IAO_0000115 "A nervous system benign neoplasm that is located_in a sensory organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:45:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060096"^^xsd:string ; a owl:Class ; rdfs:label "sensory organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_0060115 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060097 obo:IAO_0000115 "An organ system benign neoplam that is located_in the thoracic cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:55:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060097"^^xsd:string ; a owl:Class ; rdfs:label "thoracic benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_0060118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000915 ] ) ] . obo:DOID_0060098 obo:IAO_0000115 "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:14:40Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060098"^^xsd:string ; a owl:Class ; rdfs:label "osteoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_0060099 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the muscular and skeletal organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:28:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060099"^^xsd:string ; a owl:Class ; rdfs:label "musculoskeletal system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060100 obo:IAO_0000115 "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:30:51Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060124"^^xsd:string ; oboInOwl:hasExactSynonym "skeletal system cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060100"^^xsd:string ; a owl:Class ; rdfs:label "musculoskeletal system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060101 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-19T01:27:04Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign glioma"^^xsd:string ; owl:deprecated true . obo:DOID_0060102 obo:IAO_0000115 "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-20T01:40:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060102"^^xsd:string ; a owl:Class ; rdfs:label "cartilage cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1222, obo:DOID_201 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002418 ] ) ] . obo:DOID_0060103 obo:IAO_0000115 "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T02:24:10Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9473/3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060103"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "central nervous system primitive neuroectodermal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0060104 obo:IAO_0000115 "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T02:28:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060104"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "cerebellar medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4205 . obo:DOID_0060106 obo:IAO_0000115 "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T05:39:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060106"^^xsd:string ; a owl:Class ; rdfs:label "brain meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_0060108 obo:IAO_0000115 "A brain cancer that has_material_basis_in glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-22T12:42:50Z"^^xsd:string ; oboInOwl:hasExactSynonym "lower grade glioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060108"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim ; a owl:Class ; rdfs:label "brain glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_0060109 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vulva."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060109"^^xsd:string ; a owl:Class ; rdfs:label "vulvar benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_2059 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_0060110 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the cervix."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060110"^^xsd:string ; a owl:Class ; rdfs:label "cervical benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_2253 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] ) ] . obo:DOID_0060111 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the fallopian tube."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060111"^^xsd:string ; a owl:Class ; rdfs:label "fallopian tube benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_1962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_0060112 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the ovary."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060112"^^xsd:string ; a owl:Class ; rdfs:label "ovarian benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_1100 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_0060114 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vagina."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060114"^^xsd:string ; a owl:Class ; rdfs:label "vaginal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_121 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_0060115 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T12:47:43Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060115"^^xsd:string ; a owl:Class ; rdfs:label "nervous system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ) ] . obo:DOID_0060116 obo:IAO_0000115 "A nervous system cancer that is located in the sensory system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T01:51:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060116"^^xsd:string ; a owl:Class ; rdfs:label "sensory system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_3093 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060117 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T02:20:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060117"^^xsd:string ; a owl:Class ; rdfs:label "peritoneal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002358 ] ) ] . obo:DOID_0060118 obo:IAO_0000115 "A disease of anatomical entity that is located_in the thoracic cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T02:23:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060118"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "thoracic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000915 ] ) ] . obo:DOID_0060119 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the pharynx."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:26:34Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010610"^^xsd:string, "NCI:C3325"^^xsd:string, "SNOMEDCT_US_2021_03_01:126685009"^^xsd:string, "UMLS_CUI:C0031347"^^xsd:string ; oboInOwl:hasExactSynonym "pharyngeal neoplasm"@en, "pharynx neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "pharyngeal cancer"@en ; oboInOwl:id "DOID:0060119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "pharynx cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] ) ] . obo:DOID_0060120 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:46:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060120"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skeletal system benign neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_0060121 obo:IAO_0000115 "An organ system benign neoplasm located_in the integumentary system organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:49:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060121"^^xsd:string ; a owl:Class ; rdfs:label "integumentary system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002416 ] ) ] . obo:DOID_0060122 obo:IAO_0000115 "An organ system cancer that is located_in the skin, hair and nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T02:31:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060122"^^xsd:string ; a owl:Class ; rdfs:label "integumentary system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002416 ] ) ] . obo:DOID_0060123 obo:IAO_0000115 "A musculoskeletal system benign neoplasm that is located_in connective tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T02:35:57Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:177"^^xsd:string ; oboInOwl:hasDbXref "MESH:D012983"^^xsd:string, "NCI:C3377"^^xsd:string, "SNOMEDCT_US_2021_03_01:126600002"^^xsd:string, "UMLS_CUI:C0037579"^^xsd:string ; oboInOwl:hasExactSynonym "mesenchymal tissue neoplasm"^^xsd:string, "neoplasm of soft tissue"@en, "neoplasm of soft tissues"@en, "soft tissue benign neoplasm"@en, "tumor of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "connective tissue benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060099, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] ) ] . obo:DOID_0060125 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C88.2"^^xsd:string, "MESH:D006362"^^xsd:string, "NCI:C3082"^^xsd:string, "NCI:C3083"^^xsd:string, "NCI:C3892"^^xsd:string, "SNOMEDCT_US_2021_03_01:61493004"^^xsd:string, "SNOMEDCT_US_2021_03_01:6381009"^^xsd:string, "SNOMEDCT_US_2021_03_01:68979007"^^xsd:string, "UMLS_CUI:C0018852"^^xsd:string, "UMLS_CUI:C0018854"^^xsd:string, "UMLS_CUI:C0242310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heavy chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 ; skos:exactMatch "MESH:D006362"^^xsd:string . obo:DOID_0060126 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasExactSynonym "Seligmann's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060126"^^xsd:string ; a owl:Class ; rdfs:label "alpha chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060127 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of gamma antibody (IgG)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10346"^^xsd:string ; oboInOwl:hasExactSynonym "Franklin's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060127"^^xsd:string ; a owl:Class ; rdfs:label "gamma heavy chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060128 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of mu antibody (IgM)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060128"^^xsd:string ; a owl:Class ; rdfs:label "mu chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060129 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of delta antibody (IgD)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060129"^^xsd:string ; a owl:Class ; rdfs:label "delta chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060130 obo:IAO_0000115 "An agnosia that is a loss of motion perception."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060130"^^xsd:string ; a owl:Class ; rdfs:label "akinetopsia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060131 obo:IAO_0000115 "An agnosia that is a deficiency in understanding, processing, or describing emotions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060131"^^xsd:string ; a owl:Class ; rdfs:label "alexithymia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060132 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "receptive amusia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060132"^^xsd:string ; a owl:Class ; rdfs:label "amusia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060133 obo:IAO_0000115 "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060133"^^xsd:string ; a owl:Class ; rdfs:label "anosognosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060134 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguish visual shapes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060134"^^xsd:string ; a owl:Class ; rdfs:label "apperceptive agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060135 obo:IAO_0000115 "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5838"^^xsd:string, "ICD10CM:R48.2"^^xsd:string, "SNOMEDCT_US_2019_09_01:68345001"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060135"^^xsd:string ; a owl:Class ; rdfs:label "apraxia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 ; skos:exactMatch "MESH:D001072"^^xsd:string . obo:DOID_0060136 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060136"^^xsd:string ; a owl:Class ; rdfs:label "associative agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060137 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060137"^^xsd:string ; a owl:Class ; rdfs:label "auditory agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060138 obo:IAO_0000115 "An agnosia that is a loss of the ability to orient parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060138"^^xsd:string ; a owl:Class ; rdfs:label "autotopagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060139 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060139"^^xsd:string ; a owl:Class ; rdfs:label "color agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060140 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060140"^^xsd:string ; a owl:Class ; rdfs:label "cortical deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060141 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguish the fingers on the hand."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060141"^^xsd:string ; a owl:Class ; rdfs:label "finger agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060142 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060142"^^xsd:string ; a owl:Class ; rdfs:label "form agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060143 obo:IAO_0000115 "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060143"^^xsd:string ; a owl:Class ; rdfs:label "integrative agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060144 obo:IAO_0000115 "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060144"^^xsd:string ; a owl:Class ; rdfs:label "mirror agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060145 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive and process pain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "analgesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060145"^^xsd:string ; a owl:Class ; rdfs:label "pain agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060146 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize familiar voices."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060146"^^xsd:string ; a owl:Class ; rdfs:label "phonagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060147 obo:IAO_0000115 "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060147"^^xsd:string ; a owl:Class ; rdfs:label "semantic agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060148 obo:IAO_0000115 "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11943"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060148"^^xsd:string ; a owl:Class ; rdfs:label "simultanagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060149 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "expressive agnosia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060149"^^xsd:string ; a owl:Class ; rdfs:label "social emotional agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060150 obo:IAO_0000115 "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "somatosensory agnosia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060150"^^xsd:string ; a owl:Class ; rdfs:label "astereognosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060151 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize or identify objects by touch alone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060151"^^xsd:string ; a owl:Class ; rdfs:label "tactile agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060152 obo:IAO_0000115 "An agnosia that is a loss of the ability to comprehend the succession and duration of events."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060152"^^xsd:string ; a owl:Class ; rdfs:label "time agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060153 obo:IAO_0000115 "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060153"^^xsd:string ; a owl:Class ; rdfs:label "topographical agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060155 . obo:DOID_0060154 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060154"^^xsd:string ; a owl:Class ; rdfs:label "verbal auditory agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060155 obo:IAO_0000115 "An agnosia that is a loss of the ability to visually recognize objects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C531604"^^xsd:string, "UMLS_CUI:C2930796"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060155"^^xsd:string ; a owl:Class ; rdfs:label "visual agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060156 obo:IAO_0000115 "An agnosia that is a loss of the ability to comprehending the meaning of written words."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060156"^^xsd:string ; a owl:Class ; rdfs:label "visual verbal agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060155 . obo:DOID_0060157 obo:IAO_0000115 "An alopecia areata that involves diffuse loss of hair over the whole scalp."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T03:45:02Z"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:46586006"^^xsd:string, "UMLS_CUI:C0263479"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060157"^^xsd:string ; a owl:Class ; rdfs:label "diffuse alopecia areata"^^xsd:string ; rdfs:subClassOf obo:DOID_986 . obo:DOID_0060158 obo:IAO_0000115 "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-24T02:53:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060158"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "acquired metabolic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0014667 . obo:DOID_0060159 obo:IAO_0000115 "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-26T11:17:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9433"^^xsd:string ; oboInOwl:hasExactSynonym "organic acid metabolism disorder"@en, "organic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060159"^^xsd:string ; a owl:Class ; rdfs:label "organic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0060160 obo:IAO_0000115 "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:15:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7674"^^xsd:string, "MESH:D014897"^^xsd:string, "NCI:C85076"^^xsd:string, "ORDO:70"^^xsd:string, "UMLS_CUI:C0700595"^^xsd:string ; oboInOwl:hasExactSynonym "spinal muscular atrophies of childhood"@en, "survival motor neuron spinal muscular atrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060160"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0060161 obo:IAO_0000115 "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:31:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6818"^^xsd:string, "MESH:D055534"^^xsd:string, "NCI:C85233"^^xsd:string, "OMIM:313200"^^xsd:string, "SNOMEDCT_US_2021_03_01:230253001"^^xsd:string, "UMLS_CUI:C1839259"^^xsd:string ; oboInOwl:hasExactSynonym "Kennedy disease"@en, "SBMA"@en, "Spinobulbar Muscular Atrophy"@en, "X-Linked Bulbo-Spinal Atrophy"@en, "X-linked Spinal and Bulbar Muscular Atrophy"@en, "spinal bulbar muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060161"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kennedy's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060162 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:41:48Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5643"^^xsd:string, "MESH:D020191"^^xsd:string, "NCI:C122653"^^xsd:string, "OMIM:125370"^^xsd:string, "SNOMEDCT_US_2021_03_01:702422004"^^xsd:string, "UMLS_CUI:C0751781"^^xsd:string ; oboInOwl:hasExactSynonym "DRPLA"@en, "Haw River Syndrome"@en, "Naito-Oyanagi disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060162"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "dentatorubral-pallidoluysian atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002503 ] ; skos:exactMatch "MESH:D020191"^^xsd:string, "NCI:C122653"^^xsd:string, "UMLS_CUI:C0751781"^^xsd:string . obo:DOID_0060163 obo:IAO_0000115 "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T01:38:34Z"^^xsd:string ; oboInOwl:hasExactSynonym "body dysmorphia"@en, "dysmorphic syndrome"@en, "dysmorphophobia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060163"^^xsd:string ; a owl:Class ; rdfs:label "body dysmorphic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_0060164 obo:IAO_0000115 "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T01:42:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060164"^^xsd:string ; a owl:Class ; rdfs:label "pain disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_0060165 obo:IAO_0000115 "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T02:46:02Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D017593"^^xsd:string, "OMIM:148840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060165"^^xsd:string ; a owl:Class ; rdfs:label "Kleine-Levin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8619 . obo:DOID_0060166 obo:IAO_0000115 "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-09T02:27:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060166"^^xsd:string ; a owl:Class ; rdfs:label "bipolar ll disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3312 . obo:DOID_0060167 obo:IAO_0000115 "A mental depression that involves presentation of depressive symptoms only during a specific season of the year."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-09T02:53:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016574"^^xsd:string ; oboInOwl:hasExactSynonym "winter depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060167"^^xsd:string ; a owl:Class ; rdfs:label "seasonal affective disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1596 . obo:DOID_0060168 obo:IAO_0000115 "A histidine metabolism disease characterized by a deficiency of the enzyme histidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-20T12:47:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6661"^^xsd:string, "MESH:C538320"^^xsd:string, "OMIM:235800"^^xsd:string ; oboInOwl:hasExactSynonym "histidinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060168"^^xsd:string ; a owl:Class ; rdfs:label "histidinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9265 . obo:DOID_0060169 obo:IAO_0000115 "An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T02:55:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1518"^^xsd:string, "GARD:857"^^xsd:string, "OMIM:601764"^^xsd:string, "OMIM:605751"^^xsd:string, "OMIM:607745"^^xsd:string, "OMIM:612627"^^xsd:string, "ORDO:306"^^xsd:string ; oboInOwl:hasExactSynonym "BFIC"@en, "BFIE"@en, "benign familial infantile convulsion"@en, "benign familial infantile seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060169"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "benign familial infantile epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703 . obo:DOID_0060170 obo:IAO_0000115 "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T02:57:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G40.3"^^xsd:string, "OMIM:PS121210"^^xsd:string, "ORDO:36387"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060170"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "generalized epilepsy with febrile seizures plus"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0060171 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T03:14:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060171"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "obsolete Dravet syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0060172 obo:IAO_0000115 "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T10:42:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060172"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "juvenile absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060173 obo:IAO_0000115 "A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T12:52:33Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110649"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G72.3"^^xsd:string, "MESH:C536962"^^xsd:string, "OMIM:601005"^^xsd:string, "ORDO:65283"^^xsd:string, "ORDO:768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060173"^^xsd:string ; a owl:Class ; rdfs:label "Timothy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060174 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T01:52:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613163"^^xsd:string ; oboInOwl:hasExactSynonym "Gamma-amino butyric acid transaminase deficiency"@en, "gamma-aminobutyric acid transaminase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060174"^^xsd:string ; a owl:Class ; rdfs:label "GABA aminotransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176 . obo:DOID_0060175 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535803"^^xsd:string, "OMIM:271980"^^xsd:string ; oboInOwl:hasExactSynonym "4-hydroxybutyric aciduria"@en, "SSADH"@en, "gamma-hydroxybutyric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060175"^^xsd:string ; a owl:Class ; rdfs:label "succinic semialdehyde dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176 . obo:DOID_0060176 obo:IAO_0000115 "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060176"^^xsd:string ; a owl:Class ; rdfs:label "gamma-amino butyric acid metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0060177 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2730"^^xsd:string, "MESH:C535328"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060177"^^xsd:string ; a owl:Class ; rdfs:label "homocarnosinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0060178 obo:IAO_0000115 "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:54:32Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10975"^^xsd:string, "ICD10CM:G43.8"^^xsd:string, "ICD9CM:346.8"^^xsd:string, "ORDO:569"^^xsd:string, "SNOMEDCT_US_2021_03_01:193037008"^^xsd:string, "UMLS_CUI:C0477373"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060178"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "familial hemiplegic migraine"^^xsd:string ; rdfs:subClassOf obo:DOID_10024, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000293 ] . obo:DOID_0060179 obo:IAO_0000115 "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T03:21:30Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.5"^^xsd:string, "OMIM:309500"^^xsd:string, "ORDO:3242"^^xsd:string ; oboInOwl:hasExactSynonym "Golabi-Ito-Hall syndrome"@en, "Sutherland-Haan X-linked mental retardation syndrome"@en, "X-linked intellectual disability due to PQBP1 mutations"@en, "X-linked intellectual disability, Renpenning type"@en, "X-linked mental retardation Renpenning type"@en, "X-linked mental retardation with spastic diplegia"@en, "syndromic X-linked mental retardation 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060179"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Renpenning syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ] . obo:DOID_0060180 obo:IAO_0000115 "An inflammatory bowel disease that involves inflammation located_in colon."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:31:45Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003872"^^xsd:string, "ICD10CM:K52.9"^^xsd:string, "MESH:D003092"^^xsd:string, "NCI:C26723"^^xsd:string, "SNOMEDCT_US_2021_03_01:64226004"^^xsd:string, "UMLS_CUI:C0009319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060180"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589 . obo:DOID_0060181 obo:IAO_0000115 "A colitis caused_by inadequate blood supply to the colon."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:36:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K55.9"^^xsd:string, "MESH:D017091"^^xsd:string, "SNOMEDCT_US_2021_03_01:30588004"^^xsd:string, "UMLS_CUI:C0162529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060181"^^xsd:string ; a owl:Class ; rdfs:label "ischemic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060182 obo:IAO_0000115 "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:49:18Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.83"^^xsd:string, "MESH:D046728"^^xsd:string, "NCI:C38504"^^xsd:string, "ORDO:58220"^^xsd:string, "SNOMEDCT_US_2021_03_01:235753003"^^xsd:string, "UMLS_CUI:C0400821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060182"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microscopic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060183 obo:IAO_0000115 "A colitis characterized by a distinctive thickening of the subepithelial collagen table."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:56:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6135"^^xsd:string, "ICD10CM:K52.831"^^xsd:string, "MEDDRA:10048928"^^xsd:string, "MESH:D046729"^^xsd:string, "NCI:C27021"^^xsd:string, "SNOMEDCT_US_2021_03_01:19311003"^^xsd:string, "UMLS_CUI:C0238067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy."^^xsd:string ; rdfs:label "collagenous colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060182 . obo:DOID_0060184 obo:IAO_0000115 "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:58:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6939"^^xsd:string, "ICD10CM:K52.832"^^xsd:string, "MEDDRA:10025268"^^xsd:string, "MESH:D046730"^^xsd:string, "NCI:C27147"^^xsd:string, "ORDO:65279"^^xsd:string, "SNOMEDCT_US_2021_03_01:31437008"^^xsd:string, "UMLS_CUI:C0400822"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060184"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally."^^xsd:string ; rdfs:label "lymphocytic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060182 . obo:DOID_0060185 obo:IAO_0000115 "A colitis characterized by an overgrowth of Clostridium difficile bacteria."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:01:17Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A04.7"^^xsd:string, "MEDDRA:10009657"^^xsd:string, "MESH:D004761"^^xsd:string, "NCI:C128347"^^xsd:string, "SNOMEDCT_US_2021_03_01:266525002"^^xsd:string, "SNOMEDCT_US_2021_03_01:397683000"^^xsd:string, "SNOMEDCT_US_2021_03_01:51180003"^^xsd:string, "UMLS_CUI:C0014358"^^xsd:string, "UMLS_CUI:C0085819"^^xsd:string, "UMLS_CUI:C1257843"^^xsd:string, "UMLS_CUI:C1257844"^^xsd:string, "UMLS_CUI:C1257845"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudomembranous colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060185"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Clostridium difficile colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060186 obo:IAO_0000115 "A colitis caused_by introduction of various chemicals."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:08:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52"^^xsd:string, "ICD9CM:558"^^xsd:string, "UMLS_CUI:C0029512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060186"^^xsd:string ; a owl:Class ; rdfs:label "chemical colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060187 obo:IAO_0000115 "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:14:29Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52"^^xsd:string, "ICD9CM:558"^^xsd:string, "UMLS_CUI:C0029512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060187"^^xsd:string ; a owl:Class ; rdfs:label "diversion colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060188 obo:IAO_0000115 "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T10:51:02Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.0"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060188"^^xsd:string ; a owl:Class ; rdfs:label "jejunoileitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060189 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T11:40:07Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.9"^^xsd:string, "MEDDRA:10021312"^^xsd:string, "MESH:D007079"^^xsd:string, "NCI:C84782"^^xsd:string, "SNOMEDCT_US_2021_03_01:52457000"^^xsd:string, "UMLS_CUI:C0020877"^^xsd:string ; oboInOwl:hasExactSynonym "Crohn's ileitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ileitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060190 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:22:19Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.9"^^xsd:string, "MEDDRA:10062647"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060190"^^xsd:string ; a owl:Class ; rdfs:comment "OWL classification."^^xsd:string ; rdfs:label "ileocolitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060191 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:35:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.0"^^xsd:string ; oboInOwl:hasExactSynonym "upper GI Crohn's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060191"^^xsd:string ; a owl:Class ; rdfs:label "gastroduodenal Crohn's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0060192 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:50:24Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.1"^^xsd:string, "ICD9CM:555.1"^^xsd:string, "MESH:D003424"^^xsd:string, "NCI:C37262"^^xsd:string, "SNOMEDCT_US_2021_03_01:7620006"^^xsd:string, "UMLS_CUI:C0156147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OWL classification."^^xsd:string ; rdfs:label "Crohn's colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_0060193 obo:IAO_0000115 "The most common type of familial ALS that has_material_basis_in mutation in the SOD1 gene on chromosome 21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:04:32Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.2"^^xsd:string, "OMIM:105400"^^xsd:string ; oboInOwl:hasExactSynonym "ALS1"@en, "amyotrophic lateral sclerosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060193"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060194 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:12:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9470"^^xsd:string, "ICD10CM:G12.2"^^xsd:string, "OMIM:205100"^^xsd:string ; oboInOwl:hasExactSynonym "ALS2"@en, "amyotrophic lateral sclerosis 2"@en, "amyotrophic lateral sclerosis 2, juvenile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060194"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060195 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:18:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10501"^^xsd:string, "OMIM:606640"^^xsd:string ; oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ALS3"^^xsd:string, "ALS3"@en ; oboInOwl:id "DOID:0060195"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060196 obo:IAO_0000115 "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:49:59Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10502"^^xsd:string, "ICD10CM:G12.2"^^xsd:string, "OMIM:602433"^^xsd:string, "ORDO:357043"^^xsd:string ; oboInOwl:hasExactSynonym "ALS 4"@en, "amyotrophic lateral sclerosis 4"@en, "amyotrophic lateral sclerosis 4, juvenile"@en, "dHMN with upper motor neuron signs"@en, "distal hereditary motor neuropathy with pyramidal features"@en, "distal hereditary motor neuropathy with upper motor neuron signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060196"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060197 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10503"^^xsd:string, "OMIM:602099"^^xsd:string ; oboInOwl:hasExactSynonym "ALS5"@en, "amyotrophic lateral sclerosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060197"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060198 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:21:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9874"^^xsd:string, "OMIM:608030"^^xsd:string ; oboInOwl:hasExactSynonym "ALS6"@en, "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"@en, "autosomal recessive amyotrophic lateral sclerosis 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060198"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060199 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:28:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10500"^^xsd:string, "OMIM:608031"^^xsd:string ; oboInOwl:hasExactSynonym "ALS7"@en, "amyotrophic lateral sclerosis 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060199"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060200 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:33:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10498"^^xsd:string, "OMIM:611895"^^xsd:string ; oboInOwl:hasExactSynonym "ALS9"@en, "amyotrophic lateral sclerosis 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060200"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060201 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:36:54Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10497"^^xsd:string, "OMIM:612069"^^xsd:string ; oboInOwl:hasExactSynonym "ALS10"@en, "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions"@en, "amyotrophic lateral sclerosis 10"@en, "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060201"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060202 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:49:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10496"^^xsd:string, "OMIM:612577"^^xsd:string ; oboInOwl:hasExactSynonym "ALS11"@en, "amyotrophic lateral sclerosis 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060202"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060203 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:53:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613435"^^xsd:string ; oboInOwl:hasExactSynonym "ALS12"@en, "amyotrophic lateral sclerosis 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060203"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060204 obo:IAO_0000115 "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:56:08Z"^^xsd:string ; oboInOwl:hasExactSynonym "ALS13"@en, "amyotrophic lateral sclerosis 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060204"^^xsd:string ; a owl:Class ; rdfs:comment "An association between 29 or more CAG repeats and the development of ALS13 exists."^^xsd:string ; rdfs:label "amyotrophic lateral sclerosis type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060205 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:02:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613954"^^xsd:string ; oboInOwl:hasExactSynonym "ALS14"@en, "amyotrophic lateral sclerosis 14"@en, "amyotrophic lateral sclerosis, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060205"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060206 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:12:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300857"^^xsd:string ; oboInOwl:hasExactSynonym "ALS15"@en, "amyotrophic lateral sclerosis 15"@en, "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060206"^^xsd:string ; a owl:Class ; rdfs:comment "Described in one family only."^^xsd:string ; rdfs:label "amyotrophic lateral sclerosis type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060207 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614373"^^xsd:string ; oboInOwl:hasExactSynonym "ALS16"@en, "amyotrophic lateral sclerosis 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "amyotrophic lateral sclerosis 16, juvenile"^^xsd:string, "amyotrophic lateral sclerosis 16, juvenile"@en ; oboInOwl:id "DOID:0060207"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 16"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060208 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:20:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060208"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amyotrophic lateral sclerosis type 17"^^xsd:string ; owl:deprecated true . obo:DOID_0060209 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:24:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614808"^^xsd:string ; oboInOwl:hasExactSynonym "ALS18"@en, "amyotrophic lateral sclerosis 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060209"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060210 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:30:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615515"^^xsd:string ; oboInOwl:hasExactSynonym "ALS19"@en, "amyotrophic lateral sclerosis 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060210"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060211 obo:IAO_0000115 "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:34:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615426"^^xsd:string ; oboInOwl:hasExactSynonym "ALS20"@en, "amyotrophic lateral sclerosis 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060211"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060212 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:06:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606070"^^xsd:string ; oboInOwl:hasExactSynonym "ALS21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060212"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060213 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:36:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:105550"^^xsd:string ; oboInOwl:hasExactSynonym "ALSFTD"@en, "FTDALS1"^^xsd:string, "FTDMND"@en, "amyotrophic lateral sclerosis and/or frontotemporal dementia"@en, "frontotemporal dementia and/or amyotrophic lateral sclerosis 1"@en, "frontotemporal dementia and/or motor neuron disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060213"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-1"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060214 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:44:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615911"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS2"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060214"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-2"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060215 obo:IAO_0000115 "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-18T15:02:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5885"^^xsd:string, "ICD10CM:G37.0"^^xsd:string, "ICD9CM:341.1"^^xsd:string, "MESH:D002549"^^xsd:string, "NCI:C84670"^^xsd:string, "SNOMEDCT_US_2021_03_01:44875002"^^xsd:string, "UMLS_CUI:C0007795"^^xsd:string ; oboInOwl:hasExactSynonym "Balo disease"^^xsd:string, "Balo's concentric sclerosis"@en, "Tumefactive multiple sclerosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060215"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Similar to standard multiple sclerosis."^^xsd:string ; rdfs:label "Balo concentric sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 . obo:DOID_0060216 obo:IAO_0000115 "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-22T16:29:20Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1421"^^xsd:string, "ICD10CM:H16.32"^^xsd:string, "MESH:D055952"^^xsd:string, "ORDO:1467"^^xsd:string, "SNOMEDCT_US_2021_03_01:231906002"^^xsd:string, "UMLS_CUI:C0271270"^^xsd:string ; oboInOwl:hasExactSynonym "Cogan's syndrome"@en, "diffuse interstitual keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060216"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OWL also bilateral audiovestibular deficits."^^xsd:string ; rdfs:label "Cogan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060217 obo:IAO_0000115 "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-23T12:31:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6125"^^xsd:string, "MEDDRA:10059200"^^xsd:string, "NCI:C84644"^^xsd:string, "ORDO:98980"^^xsd:string, "SNOMEDCT_US_2021_03_01:129624009"^^xsd:string, "UMLS_CUI:C1168173"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060217"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cogan-Reese syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060218 obo:IAO_0000115 "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-24T16:30:36Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12430"^^xsd:string, "ICD10CM:M34.1"^^xsd:string, "MESH:D017675"^^xsd:string, "NCI:C70646"^^xsd:string, "SNOMEDCT_US_2021_03_01:31848007"^^xsd:string, "SNOMEDCT_US_2021_03_01:62382002"^^xsd:string, "UMLS_CUI:C0206138"^^xsd:string, "UMLS_CUI:C1527226"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060218"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "CREST syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060219 obo:IAO_0000115 "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-05T09:11:16Z"^^xsd:string ; oboInOwl:hasExactSynonym "lymph node adenoid cystic cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060219"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lymph node adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080618 . obo:DOID_0060220 obo:IAO_0000115 "An urticaria induced by external physical influences."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-21T15:51:38Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060220"^^xsd:string ; a owl:Class ; rdfs:comment "WD correction."^^xsd:string ; rdfs:label "physical urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_1555 . obo:DOID_0060221 obo:IAO_0000115 "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:16:24Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6958"^^xsd:string, "ICD10CM:Q78.4"^^xsd:string, "OMIM:614569"^^xsd:string, "ORDO:163634"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060221"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "WD former synonym."^^xsd:string ; rdfs:label "Maffucci syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060222 obo:IAO_0000115 "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:32:20Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12561"^^xsd:string, "ICD10CM:E76.0"^^xsd:string, "OMIM:607016"^^xsd:string, "ORDO:93474"^^xsd:string ; oboInOwl:hasExactSynonym "mucopolysaccharidosis type 1S"@en, "mucopolysaccharidosis type IS"@en, "mucopolysaccharidosis type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060222"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "WD former synonym."^^xsd:string ; rdfs:label "Scheie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12802 . obo:DOID_0060223 obo:IAO_0000115 "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:44:01Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R48.8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060223"^^xsd:string ; a owl:Class ; rdfs:label "agraphia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060047 ; skos:exactMatch "MESH:D000381"^^xsd:string . obo:DOID_0060224 obo:IAO_0000115 "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T14:55:21Z"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:427.31"^^xsd:string, "MESH:D001281"^^xsd:string, "NCI:C50466"^^xsd:string, "SNOMEDCT_US_2021_03_01:266306001"^^xsd:string, "UMLS_CUI:C0004238"^^xsd:string ; oboInOwl:hasExactSynonym "A-fib"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrial fibrillation"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000530 ] ; skos:exactMatch "MESH:D001281"^^xsd:string . obo:DOID_0060225 obo:IAO_0000115 "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:08:40Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1118"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:PS257920"^^xsd:string, "ORDO:293843"^^xsd:string ; oboInOwl:hasExactSynonym "craniofacial-ulnar-renal syndrome"@en, "oculopalatoskeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060225"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "3MC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060226 obo:IAO_0000115 "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:39:56Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C538186"^^xsd:string, "OMIM:201180"^^xsd:string, "OMIM:239710"^^xsd:string, "ORDO:1784"^^xsd:string, "SNOMEDCT_US_2021_03_01:720408003"^^xsd:string, "UMLS_CUI:C1860118"^^xsd:string ; oboInOwl:hasExactSynonym "AFFN dysostosis"@en, "Richieri-Costa-Colletto syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060226"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "acrofrontofacionasal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060227 obo:IAO_0000115 "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:48:40Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5739"^^xsd:string, "OMIM:100300"^^xsd:string, "OMIM:614219"^^xsd:string, "OMIM:614814"^^xsd:string, "OMIM:615297"^^xsd:string, "OMIM:616028"^^xsd:string, "OMIM:PS100300"^^xsd:string, "ORDO:974"^^xsd:string, "SNOMEDCT_US_2021_03_01:34748004"^^xsd:string, "UMLS_CUI:C0265268"^^xsd:string ; oboInOwl:hasExactSynonym "Adams Oliver syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060227"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Adams-Oliver syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060228 obo:IAO_0000115 "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T16:24:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS105800"^^xsd:string, "ORDO:231160"^^xsd:string ; oboInOwl:hasExactSynonym "familial aneurysmal subarachnoid hemorrhage"@en, "familial berry aneurysm"@en, "familial intracranial saccular aneurysm"@en, "saccular cerebral aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060228"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "intracranial berry aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_10941 . obo:DOID_0060229 obo:IAO_0000115 "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T16:52:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5279"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "OMIM:243310"^^xsd:string, "OMIM:614583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060229"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Baraitser-Winter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060230 obo:IAO_0000115 "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-22T13:09:08Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536275"^^xsd:string, "OMIM:114100"^^xsd:string, "OMIM:213600"^^xsd:string, "OMIM:615007"^^xsd:string, "OMIM:615483"^^xsd:string, "SNOMEDCT_US_2021_03_01:110997000"^^xsd:string, "UMLS_CUI:C0393590"^^xsd:string ; oboInOwl:hasExactSynonym "Fahr disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "basal ganglia calcification"^^xsd:string ; rdfs:subClassOf obo:DOID_679 . obo:DOID_0060231 obo:IAO_0000115 "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:12:40Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M21.8"^^xsd:string, "OMIM:259450"^^xsd:string, "OMIM:609220"^^xsd:string, "ORDO:2771"^^xsd:string ; oboInOwl:hasExactSynonym "osteogenesis imperfecta with congenital joint contractures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060231"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Bruck syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060232 obo:IAO_0000115 "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:24:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10148"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "OMIM:120502"^^xsd:string, "OMIM:602588"^^xsd:string, "OMIM:608389"^^xsd:string, "ORDO:52429"^^xsd:string ; oboInOwl:hasExactSynonym "BO syndrome"@en, "BOR"@en, "branchiootic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060232"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "branchiootic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060233 obo:IAO_0000115 "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:37:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9146"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:PS115150"^^xsd:string, "ORDO:1340"^^xsd:string ; oboInOwl:hasExactSynonym "CFC syndrome"@en, "cardio-facial-cutaneous syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060233"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cardiofaciocutaneous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060234 obo:IAO_0000115 "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T16:06:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6003"^^xsd:string, "MESH:C563187"^^xsd:string, "NCI:C98873"^^xsd:string, "OMIM:201000"^^xsd:string, "OMIM:614976"^^xsd:string, "ORDO:65759"^^xsd:string, "SNOMEDCT_US_2021_03_01:403767009"^^xsd:string, "UMLS_CUI:C1275078"^^xsd:string ; oboInOwl:hasExactSynonym "acrocephalopolysyndactyly type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060234"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12960 . obo:DOID_0060235 obo:IAO_0000115 "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T16:35:22Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535589"^^xsd:string, "NCI:C114766"^^xsd:string, "OMIM:255110"^^xsd:string, "OMIM:600649"^^xsd:string, "OMIM:608836"^^xsd:string, "ORDO:157"^^xsd:string, "SNOMEDCT_US_2021_03_01:238002005"^^xsd:string, "UMLS_CUI:C0342790"^^xsd:string ; oboInOwl:hasExactSynonym "CPT-II"@en, "infantile carnitine palmitoyltransferase II deficiency"@en, "late-onset carnitine palmitoyltransferase II deficiency"@en, "lethal neonatal carnitine palmitoyltransferase II deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060235"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "carnitine palmitoyltransferase II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0060236 obo:IAO_0000115 "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T14:10:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562584"^^xsd:string, "MESH:C566358"^^xsd:string, "OMIM:278300"^^xsd:string, "OMIM:603592"^^xsd:string, "ORDO:3467"^^xsd:string, "SNOMEDCT_US_2021_03_01:836343001"^^xsd:string, "UMLS_CUI:C0268118"^^xsd:string, "UMLS_CUI:C1863688"^^xsd:string ; oboInOwl:hasExactSynonym "xanthine dehydrogenase deficiency"@en, "xanthine oxidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060236"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "xanthinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_653 . obo:DOID_0060237 obo:IAO_0000115 "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T14:32:30Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536681"^^xsd:string, "OMIM:PS600118"^^xsd:string, "ORDO:2510"^^xsd:string, "SNOMEDCT_US_2021_03_01:772224009"^^xsd:string, "UMLS_CUI:C1838625"^^xsd:string ; oboInOwl:hasExactSynonym "WARBM"@en, "Warburg-Sjo-Fledelius syndrome"@en, "micro syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060237"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Warburg micro syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060238 obo:IAO_0000115 "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T15:42:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5456"^^xsd:string, "MESH:C536530"^^xsd:string, "OMIM:PS601390"^^xsd:string, "ORDO:314679"^^xsd:string, "SNOMEDCT_US_2021_03_01:763353000"^^xsd:string, "UMLS_CUI:C1832390"^^xsd:string ; oboInOwl:hasExactSynonym "cerebro-facio-articular syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060238"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Van Maldergem syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060239 obo:IAO_0000115 "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T15:51:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8414"^^xsd:string, "ICD10CM:Q38.0"^^xsd:string, "MESH:C536528"^^xsd:string, "MESH:C563529"^^xsd:string, "NCI:C74986"^^xsd:string, "OMIM:119300"^^xsd:string, "OMIM:606713"^^xsd:string, "ORDO:888"^^xsd:string, "SNOMEDCT_US_2021_03_01:79261008"^^xsd:string, "UMLS_CUI:C0175697"^^xsd:string, "UMLS_CUI:C1834339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "lip-pit syndrome"@en ; oboInOwl:id "DOID:0060239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Van der Woude syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060240 obo:IAO_0000115 "A skin disease characterized by photosensitivity and liver spots (solar lentigines)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:00:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563466"^^xsd:string, "OMIM:600630"^^xsd:string, "OMIM:614621"^^xsd:string, "OMIM:614640"^^xsd:string, "OMIM:PS600630"^^xsd:string, "ORDO:178338"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060240"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "UV-sensitive syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060241 obo:IAO_0000115 "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5667"^^xsd:string, "MESH:C535314"^^xsd:string, "MESH:C535725"^^xsd:string, "OMIM:273750"^^xsd:string, "OMIM:612921"^^xsd:string, "OMIM:614205"^^xsd:string, "ORDO:2616"^^xsd:string, "SNOMEDCT_US_2021_03_01:702342007"^^xsd:string, "UMLS_CUI:C1848862"^^xsd:string, "UMLS_CUI:C1851996"^^xsd:string ; oboInOwl:hasExactSynonym "Le Merrer syndrome"@en, "Miller-McKusick-Malvaux syndrome"@en, "Yakut short stature syndrome"@en, "dolichospondylic dysplasia"@en, "gloomy face syndrome"@en, "three M syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060241"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "3-M syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060242 obo:IAO_0000115 "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:57:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5087"^^xsd:string, "MESH:C538153"^^xsd:string, "NCI:C75005"^^xsd:string, "OMIM:186000"^^xsd:string, "OMIM:608180"^^xsd:string, "OMIM:610234"^^xsd:string, "ORDO:295195"^^xsd:string, "SNOMEDCT_US_2021_03_01:715724002"^^xsd:string, "UMLS_CUI:C2699746"^^xsd:string ; oboInOwl:hasExactSynonym "syndactyly type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060242"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "synpolydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_11193 . obo:DOID_0060243 obo:IAO_0000115 "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:04:54Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.81"^^xsd:string, "MESH:D013342"^^xsd:string, "NCI:C35043"^^xsd:string, "OMIM:184450"^^xsd:string, "OMIM:609261"^^xsd:string, "OMIM:614655"^^xsd:string, "OMIM:614668"^^xsd:string, "SNOMEDCT_US_2021_03_01:191987007"^^xsd:string, "SNOMEDCT_US_2021_03_01:229631007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29916003"^^xsd:string, "UMLS_CUI:C0038131"^^xsd:string, "UMLS_CUI:C0038506"^^xsd:string, "UMLS_CUI:C0454542"^^xsd:string, "UMLS_CUI:C0751527"^^xsd:string, "UMLS_CUI:C0751528"^^xsd:string, "UMLS_CUI:C0751529"^^xsd:string, "UMLS_CUI:C3489627"^^xsd:string ; oboInOwl:hasExactSynonym "familial persistent stuttering"@en, "stammering"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "stuttering"^^xsd:string ; rdfs:subClassOf obo:DOID_4186 . obo:DOID_0060244 obo:IAO_0000115 "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:29:51Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606711"^^xsd:string, "OMIM:606712"^^xsd:string, "OMIM:607134"^^xsd:string, "OMIM:612514"^^xsd:string, "OMIM:615432"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060244"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "specific language impairment"^^xsd:string ; rdfs:subClassOf obo:DOID_93 . obo:DOID_0060245 obo:IAO_0000115 "A hereditary spastic paraplegia associated with dementia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:42:37Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "MESH:C565409"^^xsd:string, "OMIM:248900"^^xsd:string, "ORDO:101001"^^xsd:string ; oboInOwl:hasExactSynonym "SPG21"@en, "autosomal recessive spastic paraplegia 21"@en, "autosomal recessive spastic paraplegia type 21"@en, "hereditary spastic paraplegia 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060245"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Mast syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2476 . obo:DOID_0060246 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:49:53Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6986"^^xsd:string, "MESH:C536029"^^xsd:string, "NCI:C129930"^^xsd:string, "OMIM:303350"^^xsd:string, "ORDO:2466"^^xsd:string, "SNOMEDCT_US_2021_03_01:716996008"^^xsd:string, "UMLS_CUI:C0795953"^^xsd:string ; oboInOwl:hasExactSynonym "CRASH syndrome"@en, "Gareis-Mason syndrome"@en, "L1 syndrome"@en, "SPG1"@en, "X-linked complicated hereditary spastic paraplegia type 1"@en, "X-linked corpus callosum agenesis"@en, "X-linked spastic paraplegia 1"@en, "hereditary spastic paraplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060246"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "MASA syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060247 obo:IAO_0000115 "A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:06:25Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C564589"^^xsd:string, "OMIM:607326"^^xsd:string, "OMIM:615222"^^xsd:string, "ORDO:178355"^^xsd:string, "SNOMEDCT_US_2021_03_01:715862006"^^xsd:string, "UMLS_CUI:C1846431"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060247"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Smith-McCort dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111167 . obo:DOID_0060248 obo:IAO_0000115 "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:15:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7649"^^xsd:string, "MESH:C537340"^^xsd:string, "NCI:C118787"^^xsd:string, "OMIM:312870"^^xsd:string, "ORDO:373"^^xsd:string, "UMLS_CUI:C0796154"^^xsd:string ; oboInOwl:hasExactSynonym "DGSX Golabi-Rosen syndrome"@en, "Golabi-Rosen syndrome"@en, "SGB syndrome"@en, "Sara Angers syndrome"@en, "Simpson dysmorphia syndrome"@en, "X-linked dysplasia gigantism syndrome"@en, "bulldog syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060248"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Simpson-Golabi-Behmel syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060249 obo:IAO_0000115 "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:44:16Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M41.9"^^xsd:string, "MESH:D012600"^^xsd:string, "NCI:C78603"^^xsd:string, "SNOMEDCT_US_2021_03_01:36773001"^^xsd:string, "UMLS_CUI:C0036439"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060249"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "scoliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010674 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ; skos:exactMatch "MESH:D012600"^^xsd:string . obo:DOID_0060250 obo:IAO_0000115 "A scoliosis with no known cause."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:52:18Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060250"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "idiopathic scoliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060249 . obo:DOID_0060251 obo:IAO_0000115 "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:02:45Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4771"^^xsd:string, "MESH:C537525"^^xsd:string, "NCI:C131133"^^xsd:string, "OMIM:PS269500"^^xsd:string, "ORDO:3152"^^xsd:string, "SNOMEDCT_US_2021_03_01:17568006"^^xsd:string, "UMLS_CUI:C0265301"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060251"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosteosis"^^xsd:string ; rdfs:subClassOf obo:DOID_205 . obo:DOID_0060252 obo:IAO_0000115 "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:16:57Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C565209"^^xsd:string, "OMIM:181700"^^xsd:string, "ORDO:91490"^^xsd:string, "UMLS_CUI:C1853235"^^xsd:string ; oboInOwl:hasExactSynonym "isolated congenital sclerocornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060252"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "sclerocornea"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060253 obo:IAO_0000115 "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:35:26Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536624"^^xsd:string, "OMIM:181430"^^xsd:string, "OMIM:300695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060253"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "scapuloperoneal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_0060254 obo:IAO_0000115 "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:42:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:312"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:C562492"^^xsd:string, "NCI:C85048"^^xsd:string, "OMIM:PS268310"^^xsd:string, "ORDO:97360"^^xsd:string, "SNOMEDCT_US_2021_03_01:76520005"^^xsd:string, "UMLS_CUI:C0265205"^^xsd:string ; oboInOwl:hasExactSynonym "Robinow dwarfism"@en, "acral dysostosis with facial and genital abnormalities"@en, "fetal face syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060254"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Robinow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0060255 obo:IAO_0000115 "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:51:43Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110302"^^xsd:string ; oboInOwl:hasDbXref "GARD:9164"^^xsd:string, "OMIM:606072"^^xsd:string, "ORDO:265"^^xsd:string, "ORDO:97238"^^xsd:string, "SNOMEDCT_US_2021_03_01:709281006"^^xsd:string, "UMLS_CUI:C1853698"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060255"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "rippling muscle disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_66, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060256 obo:IAO_0000115 "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T11:04:57Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9775"^^xsd:string, "MESH:C562924"^^xsd:string, "OMIM:179850"^^xsd:string, "OMIM:615327"^^xsd:string, "OMIM:615674"^^xsd:string, "OMIM:615696"^^xsd:string, "ORDO:79145"^^xsd:string, "SNOMEDCT_US_2021_03_01:239133004"^^xsd:string, "UMLS_CUI:C0406811"^^xsd:string, "UMLS_CUI:C3714534"^^xsd:string ; oboInOwl:hasExactSynonym "dark dot disease"@en, "reticular pigment anomaly of flexures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060256"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Dowling-Degos disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060257 obo:IAO_0000115 "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:08:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535729"^^xsd:string, "NCI:C118435"^^xsd:string, "OMIM:127400"^^xsd:string, "ORDO:41"^^xsd:string, "SNOMEDCT_US_2021_03_01:239085000"^^xsd:string, "UMLS_CUI:C0406775"^^xsd:string ; oboInOwl:hasExactSynonym "reticulate acropigmentation of Dohi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060257"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "dyschromatosis symmetrica hereditaria"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060258 obo:IAO_0000115 "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:19:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615537"^^xsd:string, "ORDO:178307"^^xsd:string, "SNOMEDCT_US_2021_03_01:239133004"^^xsd:string, "UMLS_CUI:C0406811"^^xsd:string ; oboInOwl:hasExactSynonym "RAPK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060258"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "reticulate acropigmentation of Kitamura"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060259 obo:IAO_0000115 "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:33:37Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:208540"^^xsd:string, "OMIM:615415"^^xsd:string, "ORDO:294415"^^xsd:string ; oboInOwl:hasExactSynonym "Ivemark's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060259"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "renal-hepatic-pancreatic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060260 obo:IAO_0000115 "An eye disease characterized by the drooping or falling of the upper or lower eyelid."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:46:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.4"^^xsd:string, "ICD9CM:374.3"^^xsd:string, "MESH:D001763"^^xsd:string, "NCI:C27298"^^xsd:string, "SNOMEDCT_US_2021_03_01:204197004"^^xsd:string, "UMLS_CUI:C0005745"^^xsd:string ; oboInOwl:hasExactSynonym "blepharoptosis"@en, "drooping eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060260"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "ptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060261 obo:IAO_0000115 "A ptosis characterized by eyelid drop present at birth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:53:38Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q10.0"^^xsd:string, "ICD9CM:743.61"^^xsd:string, "NCI:C27049"^^xsd:string, "OMIM:178300"^^xsd:string, "OMIM:300245"^^xsd:string, "SNOMEDCT_US_2021_03_01:204197004"^^xsd:string, "UMLS_CUI:C0266573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "congenital ptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060260, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060262 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the gallbladder."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-02T15:48:08Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0000000"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K82.9"^^xsd:string, "ICD9CM:575.9"^^xsd:string, "MESH:D005705"^^xsd:string, "NCI:C34631"^^xsd:string, "OMIM:609918"^^xsd:string, "OMIM:609919"^^xsd:string, "OMIM:611465"^^xsd:string, "SNOMEDCT_US_2021_03_01:155807008"^^xsd:string, "UMLS_CUI:C0016977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "gallbladder disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_0060263 obo:IAO_0000115 "A brain disease that is characterized by encephalomalacia and cystic brain lesions."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:12:00Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7430"^^xsd:string, "ICD10CM:Q04.6"^^xsd:string, "MESH:D065708"^^xsd:string, "OMIM:614483"^^xsd:string, "ORDO:2940"^^xsd:string, "SNOMEDCT_US_2021_03_01:38353004"^^xsd:string, "SNOMEDCT_US_2021_03_01:698837003"^^xsd:string, "UMLS_CUI:C0302892"^^xsd:string, "UMLS_CUI:C1867983"^^xsd:string, "UMLS_CUI:C3698507"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060263"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "porencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0060264 obo:IAO_0000115 "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:23:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10977"^^xsd:string, "MESH:C580383"^^xsd:string, "SNOMEDCT_US_2021_03_01:45163000"^^xsd:string, "UMLS_CUI:C0266468"^^xsd:string ; oboInOwl:hasExactSynonym "PCH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060264"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0060265 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in mutation in the VRK1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607596"^^xsd:string, "ORDO:2254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060265"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060266 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614678"^^xsd:string, "ORDO:2254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060266"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060267 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10705"^^xsd:string, "GARD:3631"^^xsd:string, "MESH:C564738"^^xsd:string, "OMIM:277470"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C1848526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060267"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060268 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567325"^^xsd:string, "OMIM:612389"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C2676466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060268"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060269 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567324"^^xsd:string, "OMIM:612390"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C2676465"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060269"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060270 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:613811"^^xsd:string, "ORDO:2524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060271 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060271"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060272 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10708"^^xsd:string, "MESH:C548072"^^xsd:string, "OMIM:608027"^^xsd:string, "ORDO:97249"^^xsd:string, "SNOMEDCT_US_2021_03_01:718609003"^^xsd:string, "UMLS_CUI:C1842687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060272"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060273 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:343"^^xsd:string, "MESH:C536716"^^xsd:string, "OMIM:225753"^^xsd:string, "ORDO:166063"^^xsd:string, "SNOMEDCT_US_2021_03_01:718608006"^^xsd:string, "UMLS_CUI:C1856974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060273"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060274 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10709"^^xsd:string, "MESH:C537745"^^xsd:string, "OMIM:610204"^^xsd:string, "ORDO:166068"^^xsd:string, "SNOMEDCT_US_2021_03_01:718607001"^^xsd:string, "UMLS_CUI:C1857762"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060274"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060275 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10710"^^xsd:string, "MESH:C548074"^^xsd:string, "OMIM:611523"^^xsd:string, "ORDO:166073"^^xsd:string, "SNOMEDCT_US_2021_03_01:718606005"^^xsd:string, "UMLS_CUI:C1969084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060275"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060276 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614969"^^xsd:string, "ORDO:284339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060276"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060277 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614961"^^xsd:string, "ORDO:324569"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060277"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060278 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:615809"^^xsd:string, "ORDO:369920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060278"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060279 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615803"^^xsd:string, "ORDO:411493"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060279"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060280 obo:IAO_0000115 "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:01:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10906"^^xsd:string, "MESH:C566469"^^xsd:string, "MESH:C566472"^^xsd:string, "OMIM:610475"^^xsd:string, "OMIM:610489"^^xsd:string, "OMIM:614190"^^xsd:string, "OMIM:615830"^^xsd:string, "ORDO:189439"^^xsd:string, "UMLS_CUI:C1864846"^^xsd:string, "UMLS_CUI:C1864851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060280"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "primary pigmented nodular adrenocortical disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3952 . obo:DOID_0060281 obo:IAO_0000115 "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:15:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5648"^^xsd:string, "ICD10CM:G40.8"^^xsd:string, "OMIM:132100"^^xsd:string, "OMIM:609572"^^xsd:string, "OMIM:609573"^^xsd:string, "ORDO:166409"^^xsd:string ; oboInOwl:hasExactSynonym "photogenic epilepsy"@en, "photoparoxysmal response"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060281"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "photosensitive epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_0060282 obo:IAO_0000115 "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:21:06Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D054514"^^xsd:string, "NCI:C161554"^^xsd:string, "OMIM:221900"^^xsd:string, "OMIM:611308"^^xsd:string, "ORDO:91495"^^xsd:string, "SNOMEDCT_US_2021_03_01:69927002"^^xsd:string, "UMLS_CUI:C0266568"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060282"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "persistent hyperplastic primary vitreous"^^xsd:string ; rdfs:subClassOf obo:DOID_9720 . obo:DOID_0060283 obo:IAO_0000115 "A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:28:52Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:270300"^^xsd:string, "OMIM:613088"^^xsd:string, "ORDO:263543"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060283"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "peeling skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0060284 obo:IAO_0000115 "An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:30:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7337"^^xsd:string, "ICD10CM:D59.5"^^xsd:string, "ICD10CM:D59.6"^^xsd:string, "MESH:D006457"^^xsd:string, "NCI:C61233"^^xsd:string, "OMIM:300818"^^xsd:string, "OMIM:615399"^^xsd:string, "ORDO:447"^^xsd:string, "SNOMEDCT_US_2021_03_01:1468004"^^xsd:string, "SNOMEDCT_US_2021_03_01:154805009"^^xsd:string, "SNOMEDCT_US_2021_03_01:191226006"^^xsd:string, "UMLS_CUI:C0019050"^^xsd:string, "UMLS_CUI:C0024790"^^xsd:string, "UMLS_CUI:C0086774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060284"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "paroxysmal nocturnal hemoglobinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_582 . obo:DOID_0060285 obo:IAO_0000115 "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:36:15Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566826"^^xsd:string, "OMIM:168500"^^xsd:string, "OMIM:609566"^^xsd:string, "OMIM:609597"^^xsd:string, "ORDO:60015"^^xsd:string, "SNOMEDCT_US_2021_03_01:718099006"^^xsd:string, "UMLS_CUI:C1868598"^^xsd:string ; oboInOwl:hasExactSynonym "Caitlin marks"@en, "enlarged parietal foramina"@en, "hereditary cranium bifidum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060285"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "parietal foramina"^^xsd:string ; rdfs:subClassOf obo:DOID_0080074 . obo:DOID_0060286 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:56:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12893"^^xsd:string, "OMIM:PS609060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060286"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "combined oxidative phosphorylation deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060287 obo:IAO_0000115 "A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T17:04:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.4"^^xsd:string, "OMIM:121400"^^xsd:string, "OMIM:217300"^^xsd:string, "ORDO:53691"^^xsd:string ; oboInOwl:hasExactSynonym "flat cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060287"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cornea plana"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060288 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T09:58:47Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS258315"^^xsd:string, "ORDO:2733"^^xsd:string, "SNOMEDCT_US_2021_03_01:725164008"^^xsd:string, "UMLS_CUI:C4510897"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060288"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "omodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060289 obo:IAO_0000115 "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:03:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536232"^^xsd:string, "OMIM:249620"^^xsd:string, "OMIM:300895"^^xsd:string, "ORDO:2728"^^xsd:string, "SNOMEDCT_US_2021_03_01:412787009"^^xsd:string, "UMLS_CUI:C0796094"^^xsd:string ; oboInOwl:hasExactSynonym "Ohdo blepharophimosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060289"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Ohdo syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060290 obo:IAO_0000115 "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:07:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536717"^^xsd:string, "OMIM:603736"^^xsd:string, "ORDO:3047"^^xsd:string, "SNOMEDCT_US_2021_03_01:699298009"^^xsd:string, "UMLS_CUI:C1863557"^^xsd:string ; oboInOwl:hasExactSynonym "Ohdo syndrome, SBBYS Variant"@en, "Say-Barber-Biesecker-Young-Simpson syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "SBBYSS"@en ; oboInOwl:id "DOID:0060290"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "blepharophimosis-intellectual disability syndrome, SBBYS type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060289, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060291 obo:IAO_0000115 "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:12:23Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7239"^^xsd:string, "MESH:C563160"^^xsd:string, "OMIM:164200"^^xsd:string, "OMIM:257850"^^xsd:string, "ORDO:2710"^^xsd:string, "SNOMEDCT_US_2021_03_01:31291009"^^xsd:string, "UMLS_CUI:C0812437"^^xsd:string ; oboInOwl:hasExactSynonym "ODD syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060291"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "oculodentodigital dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060292 obo:IAO_0000115 "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T16:35:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "MESH:C580533"^^xsd:string, "OMIM:302950"^^xsd:string, "ORDO:35173"^^xsd:string ; oboInOwl:hasExactSynonym "chondrodystrophia calcificans congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060292"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "X-linked chondrodysplasia punctata 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060293 obo:IAO_0000115 "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T16:49:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:118650"^^xsd:string, "OMIM:118651"^^xsd:string, "OMIM:602497"^^xsd:string, "ORDO:79344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060293"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal dominant chondrodysplasia punctata"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060294 obo:IAO_0000115 "A syndrome that is characterized by profuse sweating induced by cold ambient temperature."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-06T16:10:07Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536214"^^xsd:string, "OMIM:PS272430"^^xsd:string, "ORDO:157820"^^xsd:string, "SNOMEDCT_US_2021_03_01:725097006"^^xsd:string, "UMLS_CUI:C1832409"^^xsd:string ; oboInOwl:hasExactSynonym "Crisponi syndrome"@en, "Sohar-Crisponi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060294"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cold-induced sweating syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060295 obo:IAO_0000115 "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1452"^^xsd:string, "ICD10CM:D84.1"^^xsd:string, "OMIM:217000"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060295"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 2 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060296 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T16:42:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536210"^^xsd:string, "OMIM:214700"^^xsd:string, "ORDO:53689"^^xsd:string, "SNOMEDCT_US_2021_03_01:24412005"^^xsd:string, "UMLS_CUI:C0267662"^^xsd:string ; oboInOwl:hasExactSynonym "congenital chloride diarrhea finnish type"@en, "congenital chloride diarrhoea finnish type"@en, "congenital chloridorrhea"@en, "congenital secretory chloride diarrhoea 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060296"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "congenital secretory chloride diarrhea 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060297 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:614380"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060297"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 4a deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060298 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:614379"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060298"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 4b deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060299 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:612446"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060299"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 6 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060300 obo:IAO_0000115 "A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:610102"^^xsd:string, "ORDO:1695150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060300"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 7 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060301 obo:IAO_0000115 "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613790"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060301"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "type I complement component 8 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060302 obo:IAO_0000115 "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613789"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060302"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "type II complement component 8 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060303 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613825"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060303"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 9 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060304 obo:IAO_0000115 "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T16:53:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1996"^^xsd:string, "MESH:C535730"^^xsd:string, "NCI:C173131"^^xsd:string, "OMIM:127500"^^xsd:string, "OMIM:612715"^^xsd:string, "OMIM:615402"^^xsd:string, "ORDO:241"^^xsd:string, "UMLS_CUI:C2930995"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060304"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "dyschromatosis universalis hereditaria"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060305 obo:IAO_0000115 "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T12:29:54Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562829"^^xsd:string, "OMIM:249300"^^xsd:string, "OMIM:309300"^^xsd:string, "ORDO:91489"^^xsd:string, "SNOMEDCT_US_2021_03_01:204118005"^^xsd:string, "UMLS_CUI:C0344530"^^xsd:string ; oboInOwl:hasExactSynonym "anterior megalophthalmos"@en, "congenital anterior megalophthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060305"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "megalocornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10124, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060306 obo:IAO_0000115 "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T12:40:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2033"^^xsd:string, "MESH:C538012"^^xsd:string, "OMIM:PS224690"^^xsd:string, "ORDO:2554"^^xsd:string, "SNOMEDCT_US_2021_03_01:703508009"^^xsd:string, "UMLS_CUI:C1868684"^^xsd:string ; oboInOwl:hasExactSynonym "ear-patella-short stature syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060306"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Meier-Gorlin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060307 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T16:47:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12107"^^xsd:string, "OMIM:PS156200"^^xsd:string, "ORDO:178469"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant mental retardation"@en, "autosomal dominant non-syndromic mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060307"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal dominant non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060308 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-11T10:32:11Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:249500"^^xsd:string, "OMIM:607417"^^xsd:string, "OMIM:608443"^^xsd:string, "OMIM:611090"^^xsd:string, "OMIM:611091"^^xsd:string, "OMIM:611092"^^xsd:string, "OMIM:611093"^^xsd:string, "OMIM:611095"^^xsd:string, "OMIM:611096"^^xsd:string, "OMIM:611097"^^xsd:string, "OMIM:611107"^^xsd:string, "OMIM:614020"^^xsd:string, "OMIM:614208"^^xsd:string, "OMIM:614249"^^xsd:string, "OMIM:614329"^^xsd:string, "OMIM:614333"^^xsd:string, "OMIM:614340"^^xsd:string, "OMIM:614341"^^xsd:string, "OMIM:614342"^^xsd:string, "OMIM:614343"^^xsd:string, "OMIM:614344"^^xsd:string, "OMIM:614345"^^xsd:string, "OMIM:614346"^^xsd:string, "OMIM:614347"^^xsd:string, "OMIM:614499"^^xsd:string, "OMIM:615493"^^xsd:string, "OMIM:615516"^^xsd:string, "OMIM:615541"^^xsd:string, "OMIM:615599"^^xsd:string, "OMIM:615637"^^xsd:string, "OMIM:615802"^^xsd:string, "OMIM:615817"^^xsd:string, "OMIM:615942"^^xsd:string, "ORDO:88616"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive mental retardation"@en, "autosomal recessive non-syndromic mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060308"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal recessive non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060309 obo:IAO_0000115 "A syndromic intellectual characterized by an X-linked inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-11T16:14:46Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309510"^^xsd:string ; oboInOwl:hasExactSynonym "syndromic X-linked mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060309"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "syndromic X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0060310 obo:IAO_0000115 "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-16T13:26:27Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K12.2"^^xsd:string, "MEDDRA:10051962"^^xsd:string ; oboInOwl:hasExactSynonym "acute uvulitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060310"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "uvulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0060311 obo:IAO_0000115 "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-16T13:35:56Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.2"^^xsd:string, "ICD9CM:474.12"^^xsd:string, "MEDDRA:10001229"^^xsd:string, "SNOMEDCT_US_2021_03_01:111591002"^^xsd:string, "UMLS_CUI:C0149825"^^xsd:string ; oboInOwl:hasExactSynonym "adenoidal hypertrophy"@en, "enlarged adenoids"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060311"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "adenoid hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0060312 obo:IAO_0000115 "A cheilitis characterized by inflammation of one or both of the corners of the mouth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-19T15:57:00Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.0"^^xsd:string, "NCI:C112198"^^xsd:string, "SNOMEDCT_US_2021_03_01:200729007"^^xsd:string, "UMLS_CUI:C0221237"^^xsd:string ; oboInOwl:hasExactSynonym "angular cheilosis"@en, "angular stomatitis"@en, "cheilosis"@en, "commissural cheilitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "angular cheilitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1762, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0060313 obo:IAO_0000115 "A tracheal disease characterized by flaccidity of the tracheal support cartilage."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-20T16:02:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q32.0"^^xsd:string, "MESH:C557675"^^xsd:string, "ORDO:95430"^^xsd:string, "SNOMEDCT_US_2021_03_01:95467005"^^xsd:string, "UMLS_CUI:C0392109"^^xsd:string ; oboInOwl:hasExactSynonym "congenital tracheomalacia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060313"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "tracheomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_3225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000032 ] . obo:DOID_0060314 obo:IAO_0000115 "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T14:33:26Z"^^xsd:string ; oboInOwl:hasExactSynonym "PGL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060314"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "persistent generalized lymphadenopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9942 . obo:DOID_0060315 obo:IAO_0000115 "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T15:55:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.3"^^xsd:string, "MESH:D017733"^^xsd:string, "NCI:C3722"^^xsd:string, "SNOMEDCT_US_2021_03_01:58918007"^^xsd:string, "UMLS_CUI:C0206186"^^xsd:string ; oboInOwl:hasExactSynonym "hairy leukoplakia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oral hairy leukoplakia"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_0060316 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-09T17:15:07Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:D009958"^^xsd:string, "NCI:C75481"^^xsd:string, "OMIM:311200"^^xsd:string, "ORDO:2750"^^xsd:string, "SNOMEDCT_US_2021_03_01:1779005"^^xsd:string, "SNOMEDCT_US_2021_03_01:403773005"^^xsd:string, "SNOMEDCT_US_2021_03_01:52868006"^^xsd:string, "UMLS_CUI:C0026363"^^xsd:string, "UMLS_CUI:C0029294"^^xsd:string, "UMLS_CUI:C1510460"^^xsd:string ; oboInOwl:hasExactSynonym "Papillon-Leage-Psaume syndrome"@en, "orofaciodigital syndrome 1"@en, "orofaciodigital syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060316"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome I"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060317 obo:IAO_0000115 "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T16:58:49Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J85.2"^^xsd:string, "ICD9CM:513.0"^^xsd:string, "MESH:D008169"^^xsd:string, "NCI:C99090"^^xsd:string, "SNOMEDCT_US_2021_03_01:155618005"^^xsd:string, "UMLS_CUI:C0024110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060317"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0060318 obo:IAO_0000115 "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-24T16:50:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:538"^^xsd:string, "ICD10CM:C92.4"^^xsd:string, "MESH:D015473"^^xsd:string, "NCI:C3182"^^xsd:string, "OMIM:612376"^^xsd:string, "ORDO:520"^^xsd:string, "SNOMEDCT_US_2021_03_01:28950004"^^xsd:string, "UMLS_CUI:C0023487"^^xsd:string ; oboInOwl:hasExactSynonym "acute myeloblastic leukaemia type 3"@en, "acute myeloblastic leukemia type 3"@en, "acute myeloid leukaemia M3"@en, "acute myeloid leukemia M3"@en, "acute promyelocytic leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060318"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute promyelocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0060319 obo:IAO_0000115 "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:12:30Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I46"^^xsd:string, "ICD9CM:427.5"^^xsd:string, "MESH:D006323"^^xsd:string, "NCI:C50479"^^xsd:string, "NCI:C50483"^^xsd:string, "SNOMEDCT_US_2021_03_01:30298009"^^xsd:string, "UMLS_CUI:C0018790"^^xsd:string, "UMLS_CUI:C0600228"^^xsd:string ; oboInOwl:hasExactSynonym "cardiopulmonary arrest"@en, "circulatory arrest"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac arrest"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0060320 obo:IAO_0000115 "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:54:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K40"^^xsd:string, "ICD9CM:550"^^xsd:string, "MESH:D006552"^^xsd:string, "NCI:C34690"^^xsd:string, "NCI:C34691"^^xsd:string, "NCI:C34692"^^xsd:string, "SNOMEDCT_US_2021_03_01:155738001"^^xsd:string, "SNOMEDCT_US_2021_03_01:196800008"^^xsd:string, "UMLS_CUI:C0019294"^^xsd:string, "UMLS_CUI:C0019295"^^xsd:string, "UMLS_CUI:C0019296"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inguinal hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0060321 obo:IAO_0000115 "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:58:35Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q79.2"^^xsd:string, "ICD9CM:756.72"^^xsd:string, "MESH:D006554"^^xsd:string, "NCI:C98997"^^xsd:string, "SNOMEDCT_US_2021_03_01:49324006"^^xsd:string, "SNOMEDCT_US_2021_03_01:5867007"^^xsd:string, "UMLS_CUI:C0795690"^^xsd:string, "UMLS_CUI:C1306503"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060321"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "umbilical hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0060322 obo:IAO_0000115 "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T16:29:09Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H70.9"^^xsd:string, "ICD9CM:383.9"^^xsd:string, "MESH:D008417"^^xsd:string, "NCI:C128368"^^xsd:string, "SNOMEDCT_US_2021_03_01:155230007"^^xsd:string, "UMLS_CUI:C0024904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mastoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3342, obo:DOID_5100, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] . obo:DOID_0060323 obo:IAO_0000115 "A breast disease characterized by a collection of pus in the breast."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:21:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060323"^^xsd:string ; a owl:Class ; rdfs:label "breast abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_0060324 obo:IAO_0000115 "A tooth disease characterized by a localized collection of pus associated with a tooth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:25:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K04.6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060324"^^xsd:string ; a owl:Class ; rdfs:label "dental abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_0060325 obo:IAO_0000115 "A cervix disease characterized by a benign polyp on the surface of the cervical canal."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:33:54Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D26.9"^^xsd:string, "ICD9CM:219"^^xsd:string, "SNOMEDCT_US_2021_03_01:189107007"^^xsd:string, "UMLS_CUI:C0153996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060325"^^xsd:string ; a owl:Class ; rdfs:label "cervical polyp"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_0060326 obo:IAO_0000115 "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:47:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q05"^^xsd:string, "MESH:D008591"^^xsd:string, "NCI:C101201"^^xsd:string, "NCI:C98874"^^xsd:string, "SNOMEDCT_US_2021_03_01:268308005"^^xsd:string, "SNOMEDCT_US_2021_03_01:7096005"^^xsd:string, "UMLS_CUI:C0025312"^^xsd:string, "UMLS_CUI:C0086664"^^xsd:string, "UMLS_CUI:C0751316"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myelomeningocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_0060327 obo:IAO_0000115 "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:54:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q79.2"^^xsd:string, "ICD9CM:756.72"^^xsd:string, "MESH:D006554"^^xsd:string, "NCI:C98997"^^xsd:string, "OMIM:164750"^^xsd:string, "SNOMEDCT_US_2021_03_01:49324006"^^xsd:string, "SNOMEDCT_US_2021_03_01:5867007"^^xsd:string, "UMLS_CUI:C0795690"^^xsd:string, "UMLS_CUI:C1306503"^^xsd:string ; oboInOwl:hasExactSynonym "omphalocoele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "omphalocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060328 obo:IAO_0000115 "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-02-25T19:05:13Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K60.3"^^xsd:string, "MESH:D012003"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060328"^^xsd:string ; a owl:Class ; rdfs:label "anal fistula"^^xsd:string ; rdfs:subClassOf obo:DOID_1285 . obo:DOID_0060329 obo:IAO_0000115 "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-02-25T19:27:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6318"^^xsd:string, "ICD10CM:O00"^^xsd:string, "ICD9CM:633"^^xsd:string, "MESH:D011271"^^xsd:string, "NCI:C34945"^^xsd:string, "SNOMEDCT_US_2021_03_01:156080003"^^xsd:string, "UMLS_CUI:C0032987"^^xsd:string ; oboInOwl:hasExactSynonym "eccyesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ectopic pregnancy"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_0060330 obo:IAO_0000115 "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T13:47:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5690"^^xsd:string, "MESH:C535289"^^xsd:string, "OMIM:129400"^^xsd:string, "ORDO:3022"^^xsd:string ; oboInOwl:hasExactSynonym "RHS"@en, "anhidrotic ectodermal dysplasia with cleft lip/palate"@en, "ectodermal dysplasia syndrome, Rapp-Hodgkin type"@en, "ectodermal dysplasia, Rapp-Hodgkin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060330"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Part of AEC spectrum. Research more."^^xsd:string ; rdfs:label "Rapp-Hodgkin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060331 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.3"^^xsd:string, "OMIM:614052"^^xsd:string, "ORDO:1194"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN2"@en, "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060331"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060332 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:614053"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060332"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060333 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:615228"^^xsd:string, "ORDO:254913"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060333"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060334 obo:IAO_0000115 "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:59:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1839"^^xsd:string, "ICD10CM:P70.2"^^xsd:string, "OMIM:601410"^^xsd:string, "OMIM:610374"^^xsd:string, "OMIM:610582"^^xsd:string, "ORDO:99886"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060334"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "transient neonatal diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_11717 . obo:DOID_0060335 obo:IAO_0000115 "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-04-16T10:44:34Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:182170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060335"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant sideroblastic anemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060336 obo:IAO_0000115 "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-04-16T10:50:48Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.111"^^xsd:string, "MESH:C579867"^^xsd:string, "OMIM:PS250950"^^xsd:string, "ORDO:289902"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060336"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159 . obo:DOID_0060337 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-11T10:31:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537943"^^xsd:string, "OMIM:609528"^^xsd:string, "ORDO:66631"^^xsd:string, "SNOMEDCT_US_2021_03_01:722385008"^^xsd:string, "UMLS_CUI:C1836033"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060337"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Flybase."^^xsd:string ; rdfs:label "CEDNIK syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060338 obo:IAO_0000115 "An embryonal rhabdomyosarcoma located in the parameningeal region."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-14T14:32:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060338"^^xsd:string ; a owl:Class ; rdfs:label "parameningeal embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3246 . obo:DOID_0060339 obo:IAO_0000115 "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-18T15:37:53Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616201"^^xsd:string ; oboInOwl:hasExactSynonym "CAID syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060339"^^xsd:string ; a owl:Class ; rdfs:label "chronic atrial and intestinal dysrhythmia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060340 obo:IAO_0000115 "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-21T10:41:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060340"^^xsd:string ; a owl:Class ; rdfs:label "ciliopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060341 obo:IAO_0000115 "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-26T16:14:08Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q18.2"^^xsd:string, "MESH:C562503"^^xsd:string, "OMIM:202650"^^xsd:string, "ORDO:990"^^xsd:string ; oboInOwl:hasExactSynonym "agnathia-holoprosencephaly-situs inversus syndrome"@en, "dysgnathia complex agnathia-holoprosencephaly"@en, "holoprosencephaly-agnathia"@en, "otocephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060341"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "agnathia-otocephaly complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060342 obo:IAO_0000115 "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-26T16:44:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2393"^^xsd:string, "GARD:5539"^^xsd:string, "MESH:C566345"^^xsd:string, "OMIM:603671"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060342"^^xsd:string ; a owl:Class ; rdfs:label "acromelic frontonasal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060343 obo:IAO_0000115 "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-27T17:07:43Z"^^xsd:string ; oboInOwl:hasExactSynonym "steroid-induced osteoporosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060343"^^xsd:string ; a owl:Class ; rdfs:label "glucocorticoid-induced osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11476, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060344 obo:IAO_0000115 "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-28T14:45:56Z"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:701.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:201088002"^^xsd:string, "UMLS_CUI:C0029805"^^xsd:string ; oboInOwl:hasExactSynonym "Herxheimer disease"@en, "primary diffuse atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060344"^^xsd:string ; oboInOwl:inSubset doid:GOLD ; a owl:Class ; rdfs:label "acrodermatitis chronica atrophicans"^^xsd:string ; rdfs:subClassOf obo:DOID_2722 . obo:DOID_0060345 obo:IAO_0000115 "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-28T16:26:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016917"^^xsd:string, "NCI:C3477"^^xsd:string, "SNOMEDCT_US_2021_03_01:58213005"^^xsd:string, "UMLS_CUI:C0085434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060345"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacillary angiomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11102 . obo:DOID_0060346 obo:IAO_0000115 "A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-06-01T17:47:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8432"^^xsd:string, "MESH:C538343"^^xsd:string, "OMIM:255995"^^xsd:string, "ORDO:168572"^^xsd:string, "SNOMEDCT_US_2021_03_01:723439002"^^xsd:string, "UMLS_CUI:C1850625"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060346"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Native American myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060347 obo:IAO_0000115 "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-06-04T14:51:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563159"^^xsd:string, "OMIM:102520"^^xsd:string, "OMIM:201310"^^xsd:string, "SNOMEDCT_US_2021_03_01:720458005"^^xsd:string, "UMLS_CUI:C3495490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060347"^^xsd:string ; a owl:Class ; rdfs:label "acrorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060348 obo:IAO_0000115 "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-06-19T20:05:16Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:411"^^xsd:string, "MESH:C537157"^^xsd:string, "NCI:C133727"^^xsd:string, "OMIM:241410"^^xsd:string, "ORDO:2323"^^xsd:string, "UMLS_CUI:C1855840"^^xsd:string ; oboInOwl:hasExactSynonym "HRD syndrome"@en, "Sanjad-Sakati syndrome"@en, "hypoparathyroidism with short stature, mental retardation and seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060348"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoparathyroidism-retardation-dysmorphism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060349 obo:IAO_0000115 "A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-06-24T22:12:55Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537711"^^xsd:string, "OMIM:152950"^^xsd:string, "ORDO:2526"^^xsd:string, "UMLS_CUI:C1835265"^^xsd:string ; oboInOwl:hasExactSynonym "chorioretinal dysplasia-microcephaly-mental retardation syndrome"@en, "lymphedema and retinal folds with ficrocephaly and microphthalmos"@en, "lymphedema, microcephaly and chorioretinopathy syndrome"@en, "microcephaly lymphedema chorioretinal dysplasia"@en, "microcephaly, lymphedema, chorioretinal dysplasia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060349"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060350 obo:IAO_0000115 "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-02T16:06:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10666"^^xsd:string, "GARD:546"^^xsd:string, "MESH:C538228"^^xsd:string, "NCI:C121564"^^xsd:string, "OMIM:614723"^^xsd:string, "SNOMEDCT_US_2021_03_01:11852004"^^xsd:string, "UMLS_CUI:C0268120"^^xsd:string, "UMLS_CUI:C3665382"^^xsd:string ; oboInOwl:hasExactSynonym "2,8-dihydroxyadenine urolithiasis"@en, "APRT deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenine phosphoribosyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_653, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060351 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-14T16:24:56Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615157"^^xsd:string ; oboInOwl:hasExactSynonym "MC3DN2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060351"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060352 obo:IAO_0000115 "Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-14T16:49:09Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070075"^^xsd:string ; oboInOwl:hasDbXref "GARD:8672"^^xsd:string, "MESH:C563043"^^xsd:string, "NCI:C129976"^^xsd:string, "OMIM:610253"^^xsd:string, "ORDO:261494"^^xsd:string, "SNOMEDCT_US_2021_03_01:724207001"^^xsd:string, "UMLS_CUI:C0795833"^^xsd:string ; oboInOwl:hasExactSynonym "9q subtelomeric deletion syndrome"@en, "9q-syndrome"@en, "9q34 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060352"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kleefstra syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_0080597, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060353 obo:IAO_0000115 "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-15T16:37:59Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616462"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060353"^^xsd:string ; a owl:Class ; rdfs:label "acrofacial dysostosis Cincinnati type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060379, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000272 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000347 ] . obo:DOID_0060354 obo:IAO_0000115 "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-16T16:30:32Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566108"^^xsd:string, "OMIM:185070"^^xsd:string, "ORDO:3204"^^xsd:string, "SNOMEDCT_US_2021_03_01:711407000"^^xsd:string, "UMLS_CUI:C1861451"^^xsd:string ; oboInOwl:hasExactSynonym "thrombocytopathy, asplenia and miosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060354"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Stormorken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060355 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-22T11:37:41Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616208"^^xsd:string ; oboInOwl:hasExactSynonym "ALS 22"@en, "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia"@en, "amyotrophic lateral sclerosis 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060355"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 22"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060356 obo:IAO_0000115 "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-19T16:22:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:448"^^xsd:string, "MESH:C535566"^^xsd:string, "NCI:C138174"^^xsd:string, "OMIM:242840"^^xsd:string, "ORDO:1493"^^xsd:string, "SNOMEDCT_US_2021_03_01:719824001"^^xsd:string, "UMLS_CUI:C1855772"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060356"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vici syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060357 obo:IAO_0000115 "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-20T12:44:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9683"^^xsd:string, "ICD10CM:E78.3"^^xsd:string, "MESH:C535460"^^xsd:string, "OMIM:246700"^^xsd:string, "ORDO:71"^^xsd:string, "SNOMEDCT_US_2021_03_01:702364003"^^xsd:string, "UMLS_CUI:C0795956"^^xsd:string ; oboInOwl:hasExactSynonym "Anderson disease"@en, "CMRD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060357"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chylomicron retention disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060358 obo:IAO_0000115 "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-20T16:23:47Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.313"^^xsd:string, "MESH:D054069"^^xsd:string, "NCI:C84907"^^xsd:string, "OMIM:231680"^^xsd:string, "ORDO:26791"^^xsd:string, "SNOMEDCT_US_2021_03_01:22886006"^^xsd:string, "UMLS_CUI:C0268596"^^xsd:string, "UMLS_CUI:C1856401"^^xsd:string, "UMLS_CUI:C1856403"^^xsd:string, "UMLS_CUI:C1856405"^^xsd:string ; oboInOwl:hasExactSynonym "MAD deficiency"@en, "MADD"@en, "electron transfer flavoprotein deficiency"@en, "electron transfer flavoprotein ubiquinone oxidoreductase deficiency"@en, "glutaric acidemia type 2"@en, "glutaric aciduria type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060358"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple acyl-CoA dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060359 obo:IAO_0000115 "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:23:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:115"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:C537227"^^xsd:string, "OMIM:101120"^^xsd:string, "ORDO:3128"^^xsd:string ; oboInOwl:hasExactSynonym "ACPS with leg hypoplasia"@en, "Sakati syndrome"@en, "Sakati-Nyhan-Tisdale syndrome"@en, "acrocephalopolysyndactyly Type III"@en, "acrocephalopolysyndactyly type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060359"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Sakati-Nyhan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12960 . obo:DOID_0060360 obo:IAO_0000115 "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:36:52Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566323"^^xsd:string, "OMIM:101840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060360"^^xsd:string ; a owl:Class ; rdfs:label "hereditary papulotranslucent acrokeratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_869 . obo:DOID_0060361 obo:IAO_0000115 "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:50:46Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:307967"^^xsd:string, "SNOMEDCT_US_2021_03_01:402773000"^^xsd:string, "UMLS_CUI:C1274216"^^xsd:string ; oboInOwl:hasExactSynonym "punctate palmoplantar hyperkeratosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "punctate keratosis palmoplantaris"@en ; oboInOwl:id "DOID:0060361"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0060362 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T15:31:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535653"^^xsd:string, "OMIM:101850"^^xsd:string, "ORDO:38"^^xsd:string, "SNOMEDCT_US_2021_03_01:111029001"^^xsd:string, "UMLS_CUI:C0545044"^^xsd:string ; oboInOwl:hasExactSynonym "acrokeratoelastoidosis of Costa"@en, "punctate palmoplantar hyperkeratosis type 3"@en, "punctate palmoplantar keratoderma type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060362"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060363 obo:IAO_0000115 "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T15:45:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:307030"^^xsd:string, "ORDO:408"^^xsd:string, "SNOMEDCT_US_2021_03_01:297256008"^^xsd:string, "UMLS_CUI:C0574108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060363"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "glycerol kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060364 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:00:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:251300"^^xsd:string ; oboInOwl:hasExactSynonym "Galloway syndrome"@en, "microcephaly, hiatal hernia and nephrotic syndrome"@en, "nephrosis-microcephaly syndrome"@en, "nephrosis-neuronal dysmigration syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060364"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060365 obo:IAO_0000115 "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:20:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616367"^^xsd:string ; oboInOwl:hasExactSynonym "MFDA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060365"^^xsd:string ; a owl:Class ; rdfs:label "mandibulofacial dysostosis with alopecia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060366 obo:IAO_0000115 "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:36:59Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3318"^^xsd:string, "MESH:C537255"^^xsd:string, "OMIM:235510"^^xsd:string, "OMIM:616006"^^xsd:string, "ORDO:2136"^^xsd:string, "SNOMEDCT_US_2021_03_01:234146006"^^xsd:string, "UMLS_CUI:C0340834"^^xsd:string ; oboInOwl:hasExactSynonym "Hennekam lymphangiectasia-lymphedema syndrome"@en, "lymphedem-lymphangiectasia-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060366"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Hennekam syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_0060367 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:48:14Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:168601"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease 1"@en, "autosomal dominant Parkinson's disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060367"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060368 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:56:33Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600116"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive juvenile Parkinson disease 2"@en, "autosomal recessive juvenile Parkinson's disease 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060368"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060369 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:00:11Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605909"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 6"@en, "autosomal recessive early-onset Parkinson's disease 6"@en, "early-onset Parkinson disease 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060369"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060370 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:04:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606324"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 7"@en, "autosomal recessive early-onset Parkinson's disease 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060370"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060371 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:07:35Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607060"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease 8"@en, "autosomal dominant Parkinson's disease 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060371"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060372 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:13:37Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:260300"^^xsd:string ; oboInOwl:hasExactSynonym "Parkinsonian-pyramidal syndrome"@en, "autosomal recessive early-onset Parkinson disease 15"@en, "autosomal recessive early-onset Parkinson's disease 15"@en, "pallidopyramidal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060372"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060373 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:58:32Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557817"^^xsd:string, "OMIM:258850"^^xsd:string, "ORDO:2752"^^xsd:string, "SNOMEDCT_US_2021_03_01:239030004"^^xsd:string, "UMLS_CUI:C0406726"^^xsd:string ; oboInOwl:hasExactSynonym "Sugarman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060373"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060374 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537133"^^xsd:string, "OMIM:258860"^^xsd:string, "ORDO:2753"^^xsd:string, "SNOMEDCT_US_2021_03_01:239031000"^^xsd:string, "UMLS_CUI:C0406727"^^xsd:string ; oboInOwl:hasExactSynonym "Baraitser-Burn syndrome"@en, "OFD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060374"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060375 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557819"^^xsd:string, "OMIM:174300"^^xsd:string, "ORDO:2919"^^xsd:string, "SNOMEDCT_US_2021_03_01:722105002"^^xsd:string, "UMLS_CUI:C1868118"^^xsd:string ; oboInOwl:hasExactSynonym "OFD5"@en, "orofaciodigital syndrome Thurston type"@en, "polydactyly, postaxial, with median cleft of upper lip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060375"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060376 obo:IAO_0000115 "A Joubert syndrome that is characterized by orofaciodigital defect."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4412"^^xsd:string, "MESH:C536531"^^xsd:string, "NCI:C124841"^^xsd:string, "OMIM:277170"^^xsd:string, "ORDO:2754"^^xsd:string, "SNOMEDCT_US_2021_03_01:721873007"^^xsd:string, "UMLS_CUI:C2745997"^^xsd:string ; oboInOwl:hasExactSynonym "OFD6"@en, "Polydactyly cleft lip palate psychomotor retardation"@en, "Varadi syndrome"@en, "Varadi-Papp syndrome"@en, "orofaciodigital syndrome VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060376"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Joubert syndrome with orofaciodigital defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0060377 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563104"^^xsd:string, "OMIM:608518"^^xsd:string, "ORDO:90649"^^xsd:string ; oboInOwl:hasExactSynonym "OFD7"@en, "Whelan syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060377"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome VII"^^xsd:string ; rdfs:subClassOf obo:DOID_4501 . obo:DOID_0060378 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557820"^^xsd:string, "OMIM:300484"^^xsd:string, "ORDO:2755"^^xsd:string, "UMLS_CUI:C0796101"^^xsd:string ; oboInOwl:hasExactSynonym "Edwards syndrome"@en, "OFD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060378"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome VIII"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060379 obo:IAO_0000115 "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:24:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060379"^^xsd:string ; a owl:Class ; rdfs:label "acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060380 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:20Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:C563491"^^xsd:string, "OMIM:165590"^^xsd:string, "ORDO:2756"^^xsd:string ; oboInOwl:hasExactSynonym "OFD10"@en, "orofaciodigital syndrome with fibular aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060380"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060381 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:20Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557821"^^xsd:string, "OMIM:612913"^^xsd:string, "ORDO:141000"^^xsd:string, "UMLS_CUI:C2752048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060381"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome XI"^^xsd:string ; rdfs:subClassOf obo:DOID_4501 . obo:DOID_0060382 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:24:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10520"^^xsd:string, "MESH:C557818"^^xsd:string, "OMIM:258865"^^xsd:string, "ORDO:141007"^^xsd:string, "SNOMEDCT_US_2021_03_01:718680001"^^xsd:string, "UMLS_CUI:C0796102"^^xsd:string ; oboInOwl:hasExactSynonym "OFD9"@en, "orofaciodigital syndrome with retinal abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060382"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome IX"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060383 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:30:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:496"^^xsd:string, "MESH:C538183"^^xsd:string, "OMIM:201170"^^xsd:string, "ORDO:1788"^^xsd:string, "SNOMEDCT_US_2021_03_01:720430002"^^xsd:string, "UMLS_CUI:C1860119"^^xsd:string ; oboInOwl:hasExactSynonym "acrofacial dysostosis, syndrome of Rodriguez"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060383"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis Rodriguez type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060384 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:34:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:494"^^xsd:string, "MESH:C538182"^^xsd:string, "OMIM:101805"^^xsd:string, "ORDO:1786"^^xsd:string, "SNOMEDCT_US_2021_03_01:720419000"^^xsd:string, "UMLS_CUI:C2931762"^^xsd:string ; oboInOwl:hasExactSynonym "Opitz Mollica Sorge syndrome"@en, "Opitz-Caltabiano syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060384"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis, Catania type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060385 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:38:31Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C538185"^^xsd:string, "OMIM:601829"^^xsd:string, "ORDO:1787"^^xsd:string, "SNOMEDCT_US_2021_03_01:720429007"^^xsd:string, "UMLS_CUI:C1866168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060385"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis, Patagonia type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060386 obo:IAO_0000115 "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-22T17:10:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535924"^^xsd:string, "OMIM:610448"^^xsd:string, "OMIM:614415"^^xsd:string, "ORDO:90280"^^xsd:string, "UMLS_CUI:C0024145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060386"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Chilblain lupus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050169 . obo:DOID_0060387 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-24T16:23:12Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:914"^^xsd:string, "MESH:C537914"^^xsd:string, "NCI:C131420"^^xsd:string, "OMIM:215045"^^xsd:string, "ORDO:50945"^^xsd:string, "UMLS_CUI:C1859148"^^xsd:string ; oboInOwl:hasExactSynonym "Blomstrand lethal chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060387"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondrodysplasia Blomstrand type"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060388 obo:IAO_0000115 "A chromosomal disease that has_material_basis_in partial deletion of chromosomes."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T15:48:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060388"^^xsd:string ; a owl:Class ; rdfs:label "chromosomal deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060389 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T15:50:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567385"^^xsd:string, "OMIM:612242"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060389"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 10q23 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060390 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:08:42Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C567182"^^xsd:string, "OMIM:609625"^^xsd:string, "ORDO:96148"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 10q26 deletion syndrome"@en, "distal monosomy 10q"@en, "monosomy 10qter"@en, "telomeric deletion 10q"@en, "terminal chromosome 10q26 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060390"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "distal 10q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060391 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:14:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613884"^^xsd:string, "ORDO:1587"^^xsd:string ; oboInOwl:hasExactSynonym "deletion 13q14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060391"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 13q14 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060392 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:18:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613457"^^xsd:string, "ORDO:261120"^^xsd:string ; oboInOwl:hasExactSynonym "14q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060392"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 14q11-q22 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060393 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:21:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615656"^^xsd:string, "ORDO:261183"^^xsd:string, "UMLS_CUI:C3180937"^^xsd:string ; oboInOwl:hasExactSynonym "15q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060393"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060394 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:23:21Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10296"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:C567439"^^xsd:string, "OMIM:612001"^^xsd:string, "ORDO:199318"^^xsd:string ; oboInOwl:hasExactSynonym "15q13.3 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060394"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q13.3 microdeletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060395 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:25:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12219"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:C579849"^^xsd:string, "OMIM:613406"^^xsd:string, "ORDO:94065"^^xsd:string ; oboInOwl:hasExactSynonym "15q24 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060395"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q24 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060396 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:28:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614294"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060396"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 15q25 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060397 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:30:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C567232"^^xsd:string, "OMIM:612626"^^xsd:string, "ORDO:1596"^^xsd:string ; oboInOwl:hasExactSynonym "15q26 deletion syndrome"@en, "Drayer syndrome"@en, "distal 15q deletion syndrome"@en, "distal monosomy 15q"@en, "telomeric 15q deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060397"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q26-qter deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060398 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:35:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613444"^^xsd:string, "ORDO:261222"^^xsd:string ; oboInOwl:hasExactSynonym "distal 16p11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060398"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060399 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:36:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:136570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060399"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 16p12.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060400 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:42:38Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613604"^^xsd:string, "ORDO:261211"^^xsd:string ; oboInOwl:hasExactSynonym "16p11.2-p12.2 microdeletion syndrome"@en, "16p11.2p12.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060400"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p12.2-p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060401 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:46:03Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060401"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 16q22 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060402 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:49:53Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10996"^^xsd:string, "MESH:D054221"^^xsd:string, "OMIM:613776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060402"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 17p13.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060403 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:52:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q85.0"^^xsd:string, "OMIM:613675"^^xsd:string, "ORDO:97685"^^xsd:string ; oboInOwl:hasExactSynonym "17q11 microdeletion syndrome"@en, "NF1 microdeletion syndrome"@en, "Van Asperen syndrome"@en, "neurofibromatosis type 1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060403"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060404 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:55:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13297"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:614527"^^xsd:string, "ORDO:261265"^^xsd:string ; oboInOwl:hasExactSynonym "17q12 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060404"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q12 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060405 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:58:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10936"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:613355"^^xsd:string, "ORDO:261279"^^xsd:string ; oboInOwl:hasExactSynonym "17q23.1-q23.2 microdeletion syndrome"@en, "17q23.1q23.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060405"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q23.1-q23.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060406 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:01:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8631"^^xsd:string, "MESH:C538309"^^xsd:string, "NCI:C84521"^^xsd:string, "OMIM:146390"^^xsd:string, "ORDO:1598"^^xsd:string, "SNOMEDCT_US_2021_03_01:205632001"^^xsd:string, "UMLS_CUI:C0432442"^^xsd:string ; oboInOwl:hasExactSynonym "18p- syndrome"@en, "De Grouchy syndrome"@en, "monosomy 18p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060406"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromosome 18p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060407 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:05:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C536580"^^xsd:string, "OMIM:601808"^^xsd:string, "ORDO:1600"^^xsd:string ; oboInOwl:hasExactSynonym "18q- syndrome"@en, "deletion 18q"@en, "monosomy 18q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060407"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 18q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060408 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:09:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10592"^^xsd:string, "MESH:C567810"^^xsd:string, "OMIM:613026"^^xsd:string, "ORDO:217346"^^xsd:string, "UMLS_CUI:C2751651"^^xsd:string ; oboInOwl:hasExactSynonym "19q13.11 microdeletion syndrome"@en, "monosomy 19q13.11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060408"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 19q13.11 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060409 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:12:14Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613735"^^xsd:string, "ORDO:401986"^^xsd:string ; oboInOwl:hasExactSynonym "1p31p32 microdeletion syndrome"@en, "brain malformations with or without urinary tract defects"^^xsd:string, "chromosome 1p32-p31 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060409"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "NFIA-related disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060410 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:14:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6082"^^xsd:string, "MESH:C535362"^^xsd:string, "NCI:C74983"^^xsd:string, "OMIM:607872"^^xsd:string, "ORDO:1606"^^xsd:string, "SNOMEDCT_US_2021_03_01:699306003"^^xsd:string, "UMLS_CUI:C1842870"^^xsd:string ; oboInOwl:hasExactSynonym "1p36 deletion syndrome"@en, "deletion 1p36"@en, "monosomy 1p36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "subtelomeric 1p36 deletion"@en ; oboInOwl:id "DOID:0060410"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromosome 1p36 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060411 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:17:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10813"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612474"^^xsd:string, "ORDO:250989"^^xsd:string ; oboInOwl:hasExactSynonym "1q21.1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "monosomy 1q21.1"@en ; oboInOwl:id "DOID:0060411"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q21.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060412 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:24:43Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3738"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612530"^^xsd:string, "ORDO:250999"^^xsd:string ; oboInOwl:hasExactSynonym "1q41-q42 microdeletion syndrome"@en, "1q41q42 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060412"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q41-q42 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060413 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611867"^^xsd:string, "ORDO:261330"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 deletion syndrome"^^xsd:string, "distal 22q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060413"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 22q11.2 deletion syndrome, distal"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060414 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:31:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613564"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060414"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2p12-p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060415 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:32:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13391"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612513"^^xsd:string, "ORDO:261349"^^xsd:string ; oboInOwl:hasExactSynonym "2p15p16.1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "2p15-p16.1 microdeletion syndrome"@en ; oboInOwl:id "DOID:0060415"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 2p16.1-p15 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060416 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:36:55Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612345"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060416"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q31.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060417 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:38:32Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613792"^^xsd:string, "ORDO:1620"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 3pter-P25 deletion syndrome"@en, "distal monosomy 3p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060417"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "3p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060418 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:42:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536808"^^xsd:string, "OMIM:615433"^^xsd:string, "ORDO:1621"^^xsd:string, "SNOMEDCT_US_2021_03_01:726705007"^^xsd:string, "UMLS_CUI:C2931338"^^xsd:string ; oboInOwl:hasExactSynonym "3q13 microdeletion syndrome"@en, "monosomy 3q13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060418"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q13.31 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060419 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:45:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11974"^^xsd:string, "MESH:C567184"^^xsd:string, "OMIM:609425"^^xsd:string, "ORDO:65286"^^xsd:string ; oboInOwl:hasExactSynonym "3q subtelomere deletion syndrome"@en, "3q29 microdeletion syndrome"@en, "3q29 recurrent deletion"^^xsd:string, "3qter deletion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060419"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q29 microdeletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060420 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:49:18Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613509"^^xsd:string, "ORDO:238750"^^xsd:string ; oboInOwl:hasExactSynonym "4q21 microdeletion syndrome"@en, "monosomy 4q21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060420"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 4q21 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060421 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:52:47Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615668"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060421"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 5q12 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060422 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:55:16Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:612582"^^xsd:string, "ORDO:96125"^^xsd:string ; oboInOwl:hasExactSynonym "6p subtelomeric deletion syndrome"@en, "6p25 microdeletion syndrome"@en, "distal monosomy 6p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060422"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 6pter-p24 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060423 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:58:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060423"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 6q11-q14 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060424 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:59:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612863"^^xsd:string, "ORDO:251056"^^xsd:string ; oboInOwl:hasExactSynonym "6q25 microdeletion syndrome"@en, "monosomy 6q25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060424"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 6q24-q25 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060425 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T18:06:23Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:614230"^^xsd:string, "ORDO:284160"^^xsd:string ; oboInOwl:hasExactSynonym "8q21.11 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060425"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 8q21.11 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060426 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-29T15:26:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613638"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060426"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 19p13.13 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060427 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-29T16:13:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q99.8"^^xsd:string, "OMIM:300679"^^xsd:string, "ORDO:261476"^^xsd:string ; oboInOwl:hasExactSynonym "Xp21 microdeletion syndrome"@en, "complex glycerol kinase deficiency"@en, "monosomy Xp21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060427"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome Xp21 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060428 obo:IAO_0000115 "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-01T15:37:11Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:612313"^^xsd:string, "ORDO:251019"^^xsd:string ; oboInOwl:hasExactSynonym "2q32-q33 microdeletion syndrome"@en, "2q32q33 microdeletion syndrome"@en, "Glass syndrome"@en, "chromosome 2q32-q33 deletion syndrome"^^xsd:string, "monosomy 2q32"@en, "monosomy 2q32-q33"@en, "monosomy 2q32q33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060428"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "SATB2-associated syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060429 obo:IAO_0000115 "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:19:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060429"^^xsd:string ; a owl:Class ; rdfs:label "chromosomal duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0060430 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:19:40Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:614671"^^xsd:string, "ORDO:370079"^^xsd:string ; oboInOwl:hasExactSynonym "proximal 16p11.2 microduplication syndrome"@en, "proximal dup(16)(p11.2)"@en, "proximal trisomy 16p11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060430"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p11.2 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060431 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:43:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613458"^^xsd:string, "ORDO:96078"^^xsd:string ; oboInOwl:hasExactSynonym "16p13.3 microduplication syndrome"@en, "distal duplication 16p"@en, "distal trisomy 16p"@en, "telomeric duplication 16p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060431"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p13.3 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060432 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:45:43Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613215"^^xsd:string, "ORDO:217385"^^xsd:string ; oboInOwl:hasExactSynonym "17p13.3 duplication syndrome"@en, "17p13.3 microduplication syndrome"@en, "chromosome 17p13.3 centromeric duplication syndrome"@en, "trisomy 17p13.3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060432"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17p13.3 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060433 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:49:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13296"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "OMIM:614526"^^xsd:string, "ORDO:261272"^^xsd:string ; oboInOwl:hasExactSynonym "17q12 microduplication syndrome"@en, "trisomy 17q12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060433"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q12 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060434 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:50:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613533"^^xsd:string, "ORDO:217340"^^xsd:string ; oboInOwl:hasExactSynonym "17q21.31 microduplication syndrome"@en, "trisomy 17q21.31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060434"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q21.31 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060435 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T16:58:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10591"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "OMIM:612475"^^xsd:string, "ORDO:250994"^^xsd:string ; oboInOwl:hasExactSynonym "1q21.1 microduplication syndrome"@en, "trisomy 1q21.1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060435"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q21.1 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060436 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T17:02:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "MESH:C567224"^^xsd:string, "OMIM:608363"^^xsd:string, "ORDO:1727"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 microduplication syndrome"@en, "duplication 22q11.2"@en, "trisomy 22q11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060436"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 22q11.2 microduplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060437 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T17:11:03Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615538"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060437"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 22q13 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060438 obo:IAO_0000115 "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535963"^^xsd:string, "NCI:C130985"^^xsd:string, "OMIM:112240"^^xsd:string, "OMIM:616294"^^xsd:string, "ORDO:2050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060438"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cole-Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060439 obo:IAO_0000115 "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-13T15:04:00Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3335"^^xsd:string, "MESH:C562687"^^xsd:string, "NCI:C121563"^^xsd:string, "OMIM:222700"^^xsd:string, "ORDO:470"^^xsd:string, "SNOMEDCT_US_2021_03_01:13138006"^^xsd:string, "UMLS_CUI:C0268647"^^xsd:string ; oboInOwl:hasExactSynonym "LPI"@en, "dibasic amino aciduria II"@en, "hyperdibasic aminoaciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060439"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lysinuric protein intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060440 obo:IAO_0000115 "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:37:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060440"^^xsd:string ; a owl:Class ; rdfs:label "epithelial and subepithelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060441 obo:IAO_0000115 "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060441"^^xsd:string ; a owl:Class ; rdfs:label "epithelial-stromal TGFBI dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060442 obo:IAO_0000115 "A corneal dystrophy that affects the corneal stroma."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060442"^^xsd:string ; a owl:Class ; rdfs:label "stromal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060443 obo:IAO_0000115 "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasExactSynonym "endothelial dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060443"^^xsd:string ; a owl:Class ; rdfs:label "corneal endothelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060444 obo:IAO_0000115 "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:44:27Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535474"^^xsd:string, "OMIM:607541"^^xsd:string, "ORDO:98963"^^xsd:string, "SNOMEDCT_US_2021_03_01:397568004"^^xsd:string, "UMLS_CUI:C1275685"^^xsd:string ; oboInOwl:hasExactSynonym "CGD2"@en, "avellino corneal dystrophy"@en, "combined granular-lattice corneal dystrophy"@en, "corneal dystrophy, Avellino type"@en, "granular corneal dystrophy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060444"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "granular corneal dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12318, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060445 obo:IAO_0000115 "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:09:23Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C566452"^^xsd:string, "OMIM:610048"^^xsd:string, "ORDO:101068"^^xsd:string ; oboInOwl:hasExactSynonym "CSCD"@en, "congenital hereditary stromal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060445"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "congenital stromal corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060442, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060446 obo:IAO_0000115 "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:13:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567587"^^xsd:string, "OMIM:300779"^^xsd:string, "ORDO:293621"^^xsd:string ; oboInOwl:hasExactSynonym "XECD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060446"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked endothelial corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060443, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060447 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C535477"^^xsd:string, "OMIM:121820"^^xsd:string, "ORDO:98956"^^xsd:string ; oboInOwl:hasExactSynonym "Cogan corneal dystrophy"@en, "EBMD"@en, "microcystic corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060447"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "epithelial basement membrane dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060448 obo:IAO_0000115 "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:20:34Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563256"^^xsd:string, "OMIM:121850"^^xsd:string, "ORDO:98970"^^xsd:string, "SNOMEDCT_US_2021_03_01:417183007"^^xsd:string, "UMLS_CUI:C1562113"^^xsd:string ; oboInOwl:hasExactSynonym "FCD"@en, "Francois-Neetens speckled corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060448"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Fleck corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060442 . obo:DOID_0060449 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:26:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535480"^^xsd:string, "NCI:C142805"^^xsd:string, "OMIM:204870"^^xsd:string, "ORDO:98957"^^xsd:string, "SNOMEDCT_US_2021_03_01:419900000"^^xsd:string, "UMLS_CUI:C0339273"^^xsd:string ; oboInOwl:hasExactSynonym "GDCD"@en, "corneal amyloidosis"@en, "primary familial amyloidosis of the cornea"@en, "subepithelial amyloidosis of the cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060449"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "gelatinous drop-like corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060450 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:42:58Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567588"^^xsd:string, "OMIM:300778"^^xsd:string, "ORDO:98955"^^xsd:string ; oboInOwl:hasExactSynonym "LECD"@en, "band-shaped and whorled microcystic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060450"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Lisch epithelial corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060451 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:45:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9688"^^xsd:string, "ICD10CM:H18.52"^^xsd:string, "ICD9CM:371.51"^^xsd:string, "MESH:D053559"^^xsd:string, "NCI:C84795"^^xsd:string, "OMIM:PS122100"^^xsd:string, "ORDO:98954"^^xsd:string, "SNOMEDCT_US_2021_03_01:193833008"^^xsd:string, "UMLS_CUI:C0339277"^^xsd:string ; oboInOwl:hasExactSynonym "MECD"@en, "Stocker-Holt dystrophy"@en, "juvenile hereditary epithelial dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060451"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440 . obo:DOID_0060452 obo:IAO_0000115 "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:48:04Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567546"^^xsd:string, "OMIM:612868"^^xsd:string, "ORDO:98971"^^xsd:string ; oboInOwl:hasExactSynonym "PACD"@en, "chromosome 12q21.33 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060452"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "posterior amorphous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_0060442, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060453 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:51:03Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535476"^^xsd:string, "OMIM:608470"^^xsd:string, "ORDO:98961"^^xsd:string, "SNOMEDCT_US_2021_03_01:231930000"^^xsd:string, "UMLS_CUI:C0339278"^^xsd:string ; oboInOwl:hasExactSynonym "RBCD"@en, "anterior limiting membrane dystrophy type I"@en, "corneal dystrophy of Bowman layer type I"@en, "geographic corneal dystrophy"@en, "granular corneal dystrophy type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060453"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Reis-Bucklers corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060441 . obo:DOID_0060454 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:55:14Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567547"^^xsd:string, "OMIM:612867"^^xsd:string, "ORDO:98959"^^xsd:string ; oboInOwl:hasExactSynonym "SMCD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060454"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "subepithelial mucinous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440 . obo:DOID_0060455 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:57:16Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535942"^^xsd:string, "OMIM:602082"^^xsd:string, "ORDO:98960"^^xsd:string, "SNOMEDCT_US_2021_03_01:417065002"^^xsd:string, "UMLS_CUI:C1562894"^^xsd:string ; oboInOwl:hasExactSynonym "TBCD"@en, "Waardenburg-Jonker corneal dystrophy"@en, "anterior limiting membrane dystrophy type II"@en, "corneal dystrophy honeycomb-shaped"@en, "corneal dystrophy of Bowman layer type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060455"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Thiel-Behnke corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060441, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060456 obo:IAO_0000115 "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T18:01:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9277"^^xsd:string, "MESH:C535475"^^xsd:string, "OMIM:121800"^^xsd:string, "ORDO:98967"^^xsd:string, "SNOMEDCT_US_2021_03_01:420212002"^^xsd:string, "UMLS_CUI:C0271287"^^xsd:string ; oboInOwl:hasExactSynonym "SCCD"@en, "Schnyder crystalline corneal dystrophy"@en, "corneal dystrophy crystalline of Schnyder"@en, "crystalline stromal dystrophy"@en, "hereditary crystalline stromal dystrophy of Schnyder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060456"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Schnyder corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060442, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060457 obo:IAO_0000115 "A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T18:05:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C562745"^^xsd:string, "OMIM:PS122000"^^xsd:string, "ORDO:98973"^^xsd:string ; oboInOwl:hasExactSynonym "PPCD"@en, "Schlichting dystrophy"@en, "hereditary polymorphus posterior corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060457"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060458 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:42:34Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060458"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q31.1 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060459 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:45:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10360"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "MESH:C567626"^^xsd:string, "OMIM:611936"^^xsd:string, "ORDO:251038"^^xsd:string ; oboInOwl:hasExactSynonym "3q29 microduplication"@en, "trisomy 3q29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060459"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q29 microduplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060460 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T15:25:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613174"^^xsd:string, "ORDO:329802"^^xsd:string ; oboInOwl:hasExactSynonym "5p13 microduplication syndrome"@en, "trisomy 5p13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060460"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 5p13 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060461 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T15:29:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q99.8"^^xsd:string, "OMIM:300801"^^xsd:string, "ORDO:217377"^^xsd:string ; oboInOwl:hasExactSynonym "microduplication Xp11.22-p11.23 syndrome"@en, "trisomy Xp11.22-p11.23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060461"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome Xp11.23-p11.22 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060462 obo:IAO_0000115 "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-02T16:22:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1818"^^xsd:string, "MESH:C535943"^^xsd:string, "NCI:C124056"^^xsd:string, "OMIM:251450"^^xsd:string, "OMIM:615777"^^xsd:string, "ORDO:1425"^^xsd:string, "SNOMEDCT_US_2021_03_01:254099008"^^xsd:string, "UMLS_CUI:C0432242"^^xsd:string ; oboInOwl:hasExactSynonym "Desbuquois syndrome"@en, "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060462"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Desbuquois dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060463 obo:IAO_0000115 "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T14:54:36Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C45716"^^xsd:string, "UMLS_CUI:C1707291"^^xsd:string ; oboInOwl:hasExactSynonym "nuclear protein in testis midline carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060463"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "NUT midline carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_0060464 obo:IAO_0000115 "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:11:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8407"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "MESH:C537734"^^xsd:string, "OMIM:164280"^^xsd:string, "OMIM:614326"^^xsd:string, "ORDO:1305"^^xsd:string ; oboInOwl:hasExactSynonym "FGLDS"@en, "MODED syndrome"@en, "ODED syndrome"@en, "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum"@en, "microcephaly-digital anomalies-normal intelligence syndrome"@en, "microcephaly-oculo-digito-esophageal-duodenal syndrome"@en, "oculo-digito-esophageal-duodenal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060464"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Feingold syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060465 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:24:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2321"^^xsd:string, "MESH:C562524"^^xsd:string, "OMIM:PS228520"^^xsd:string, "ORDO:2021"^^xsd:string, "SNOMEDCT_US_2021_03_01:17144009"^^xsd:string, "UMLS_CUI:C0265282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060465"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "fibrochondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060466 obo:IAO_0000115 "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:47:21Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562884"^^xsd:string, "OMIM:135300"^^xsd:string, "OMIM:605544"^^xsd:string, "OMIM:609955"^^xsd:string, "OMIM:611010"^^xsd:string, "ORDO:2024"^^xsd:string, "SNOMEDCT_US_2021_03_01:109620006"^^xsd:string, "UMLS_CUI:C0399440"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary gingival fibromatosis"@en, "hereditary gingival hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060466"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "gingival fibromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3086 . obo:DOID_0060467 obo:IAO_0000115 "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity."^^xsd:string ; oboInOwl:creation_date "2015-11-11T21:29:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2748"^^xsd:string, "MESH:C535284"^^xsd:string, "OMIM:143050"^^xsd:string, "OMIM:236400"^^xsd:string, "ORDO:3265"^^xsd:string, "SNOMEDCT_US_2019_09_01:205329008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "humero-radial fusion"@en ; oboInOwl:id "DOID:0060467"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "humeroradial synostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_0060468 obo:IAO_0000115 "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:06:23Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6666"^^xsd:string, "ICD10CM:Q87.2"^^xsd:string, "MESH:C535326"^^xsd:string, "NCI:C125592"^^xsd:string, "OMIM:142900"^^xsd:string, "ORDO:392"^^xsd:string, "SNOMEDCT_US_2021_03_01:205814003"^^xsd:string, "UMLS_CUI:C0265264"^^xsd:string ; oboInOwl:hasExactSynonym "atrio-digital syndrome"@en, "atriodigital dysplasia"@en, "heart-hand syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060468"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Holt-Oram syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060469 obo:IAO_0000115 "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:22:00Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.88"^^xsd:string, "MESH:D054221"^^xsd:string, "NCI:C124852"^^xsd:string, "OMIM:247200"^^xsd:string, "ORDO:531"^^xsd:string, "SNOMEDCT_US_2021_03_01:253148005"^^xsd:string, "UMLS_CUI:C0265219"^^xsd:string ; oboInOwl:hasExactSynonym "MDS"@en, "Miller-Dieker syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060469"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Miller-Dieker lissencephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060470 obo:IAO_0000115 "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:40:23Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609056"^^xsd:string, "ORDO:370938"^^xsd:string ; oboInOwl:hasExactSynonym "salt & pepper syndrome"@en, "salt-and-pepper syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060470"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "salt and pepper syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060471 obo:IAO_0000115 "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:47:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536525"^^xsd:string, "NCI:C98930"^^xsd:string, "OMIM:609442"^^xsd:string, "ORDO:1906"^^xsd:string, "SNOMEDCT_US_2021_03_01:205792006"^^xsd:string, "UMLS_CUI:C0236026"^^xsd:string ; oboInOwl:hasExactSynonym "fetal valproic acid syndrome"@en, "foetal valproate syndrome"@en, "foetal valproic acid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060471"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetal valproate syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060472 obo:IAO_0000115 "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:54:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4391"^^xsd:string, "MESH:C536321"^^xsd:string, "OMIM:173650"^^xsd:string, "ORDO:306539"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary acrokeratotic poikiloderma of Kindler-Weary"@en, "poikiloderma of Kindler"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060472"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Kindler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0060473 obo:IAO_0000115 "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-18T16:21:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6810"^^xsd:string, "MESH:C537705"^^xsd:string, "NCI:C124837"^^xsd:string, "OMIM:147920"^^xsd:string, "OMIM:300867"^^xsd:string, "ORDO:2322"^^xsd:string, "SNOMEDCT_US_2021_03_01:205805008"^^xsd:string, "UMLS_CUI:C0796004"^^xsd:string ; oboInOwl:hasExactSynonym "KMS"@en, "Kabuki make up syndrome"@en, "Niikawa-Kuroki syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060473"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kabuki syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060474 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-18T16:42:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "OMIM:263400"^^xsd:string, "ORDO:238557"^^xsd:string ; oboInOwl:hasExactSynonym "Chuvash erythromatosis"@en, "Chuvash polycythemia"@en, "Chuvash type polycythemia"@en, "ECYT2"@en, "autosomal recessive benign erythrocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060474"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "familial erythrocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060475 obo:IAO_0000115 "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-19T16:30:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615369"^^xsd:string ; oboInOwl:hasExactSynonym "EEOC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060475"^^xsd:string ; a owl:Class ; rdfs:label "childhood onset epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1827, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0060476 obo:IAO_0000115 "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-20T16:04:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3936"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "MESH:C536399"^^xsd:string, "OMIM:267000"^^xsd:string, "ORDO:2849"^^xsd:string ; oboInOwl:hasExactSynonym "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor"@en, "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor"@en, "renal hamartomas, nephroblastomatosis and fetal gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060476"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Perlman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060478 obo:IAO_0000115 "A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A92.8"^^xsd:string, "MESH:D000071243"^^xsd:string ; oboInOwl:hasExactSynonym "Zika virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060478"^^xsd:string ; a owl:Class ; rdfs:label "Zika fever"@en ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7158 ] . obo:DOID_0060479 obo:IAO_0000115 "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080023"^^xsd:string ; oboInOwl:hasDbXref "GARD:4863"^^xsd:string, "ICD10CM:D61.0"^^xsd:string, "MESH:C537330"^^xsd:string, "OMIM:260400"^^xsd:string ; oboInOwl:hasExactSynonym "Shwachman syndrome"@en, "Shwachman-Bodian-Diamond syndrome"@en, "Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string, "pancreatic insufficiency and bone marrow dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060479"^^xsd:string ; a owl:Class ; rdfs:label "Shwachman-Diamond syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060480 obo:IAO_0000115 "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium."^^xsd:string ; oboInOwl:hasDbXref "GARD:10985"^^xsd:string, "OMIM:604169"^^xsd:string, "ORDO:54260"^^xsd:string ; oboInOwl:hasExactSynonym "left ventricular hypertrabeculation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060480"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "left ventricular noncompaction"@en ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_0060481 obo:IAO_0000115 "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9849"^^xsd:string, "MESH:C537279"^^xsd:string, "OMIM:609460"^^xsd:string, "ORDO:66629"^^xsd:string, "SNOMEDCT_US_2021_03_01:717822006"^^xsd:string, "UMLS_CUI:C1836123"^^xsd:string ; oboInOwl:hasExactSynonym "Goldberg-Shprintzen megacolon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060481"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Goldberg-Shprintzen syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060482 obo:IAO_0000115 "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "MESH:C567416"^^xsd:string, "OMIM:612109"^^xsd:string, "ORDO:157962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060482"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "oculoauricular syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060483 obo:IAO_0000115 "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609313"^^xsd:string, "ORDO:171851"^^xsd:string ; oboInOwl:hasExactSynonym "erythrokeratodermia variabilis 3"@en, "erythrokeratodermia variabilis, Kamouraska type"@en, "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060483"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "MEDNIK syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060484 obo:IAO_0000115 "A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557674"^^xsd:string, "OMIM:612780"^^xsd:string, "ORDO:199343"^^xsd:string, "SNOMEDCT_US_2021_03_01:721207002"^^xsd:string, "UMLS_CUI:C2748572"^^xsd:string ; oboInOwl:hasExactSynonym "SeSAME syndrome"@en, "epilepsy, ataxia, sensorineural deafness and tubulopathy"@en, "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060484"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "EAST syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060485 obo:IAO_0000115 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9673"^^xsd:string, "MESH:C536990"^^xsd:string, "NCI:C74999"^^xsd:string, "OMIM:235730"^^xsd:string, "ORDO:2152"^^xsd:string, "SNOMEDCT_US_2021_03_01:703535000"^^xsd:string, "UMLS_CUI:C1856113"^^xsd:string ; oboInOwl:hasExactSynonym "Hirschsprung disease mental retardation syndrome"@en, "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060485"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mowat-Wilson syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060486 obo:IAO_0000115 "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10453"^^xsd:string, "MESH:C566822"^^xsd:string, "OMIM:168605"^^xsd:string, "ORDO:178509"^^xsd:string ; oboInOwl:hasExactSynonym "parkinsonism with alveolar hypoventilation and mental depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060486"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Perry syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060488 obo:IAO_0000115 "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4372"^^xsd:string, "MESH:C537403"^^xsd:string, "NCI:C129872"^^xsd:string, "OMIM:610954"^^xsd:string, "ORDO:2896"^^xsd:string, "SNOMEDCT_US_2021_03_01:702344008"^^xsd:string, "UMLS_CUI:C1970431"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060488"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pitt-Hopkins syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060490 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:4984"^^xsd:string, "MESH:C536629"^^xsd:string, "NCI:C135087"^^xsd:string, "OMIM:242900"^^xsd:string, "ORDO:1830"^^xsd:string, "SNOMEDCT_US_2021_03_01:723995003"^^xsd:string, "UMLS_CUI:C0877024"^^xsd:string ; oboInOwl:hasExactSynonym "Schimke immunoosseous dysplasia"@en, "Schimke syndrome"@en, "immunoosseous dysplasia Schimke type"@en, "spondyloepiphyseal dysplasia - nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060490"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Schimke immuno-osseous dysplasia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060491 obo:IAO_0000115 "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "MESH:C563702"^^xsd:string, "OMIM:609541"^^xsd:string, "ORDO:320406"^^xsd:string ; oboInOwl:hasExactSynonym "spastic paraplegia, optic atropy, and neuropathy"@en, "spastic paraplegia, optic atropy, and neuropathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060491"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "SPOAN syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060492 obo:IAO_0000115 "An egg allergy triggered by Gallus gallus eggs."^^xsd:string ; oboInOwl:hasExactSynonym "Gallus gallus egg allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060492"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chicken egg allergy"@en ; rdfs:subClassOf obo:DOID_4377, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001275 ] . obo:DOID_0060495 obo:IAO_0000115 "A food allergy triggered by Crustacea or Mollusca."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060495"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "shellfish allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001293 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6447 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6657 ] . obo:DOID_0060496 obo:IAO_0000115 "An allergic disease that is located_in the respiratory tract."^^xsd:string ; oboInOwl:hasExactSynonym "airway allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060496"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "respiratory allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1205 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] ) ] . obo:DOID_0060497 obo:IAO_0000115 "A respiratory allergy triggered by pollen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060497"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "pollen allergy"@en ; rdfs:subClassOf obo:DOID_0060496 . obo:DOID_0060498 obo:IAO_0000115 "A pollen allergy triggered by Phleum pratense pollen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060498"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Timothy grass allergy"@en ; rdfs:subClassOf obo:DOID_0060497 . obo:DOID_0060499 obo:IAO_0000115 "An autoimmune disease of central nervous system caused by an autoimmune response."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060499"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune neuropathy"@en ; rdfs:subClassOf obo:DOID_0060004 . obo:DOID_0060500 obo:IAO_0000115 "An allergic disease that is triggered by a drug."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060500"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "drug allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1205 [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_24431 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] ) ] . obo:DOID_0060501 obo:IAO_0000115 "An allergic disease that is triggered by a metal."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060501"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "metal allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:CHEBI_25213 obo:CHEBI_33521 obo:CHEBI_35479 ) ] ] ) ] . obo:DOID_0060502 obo:IAO_0000115 "An allergic disease that is located_in the gastrointestinal tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060502"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gastrointestinal allergy"@en ; rdfs:subClassOf obo:DOID_1205 . obo:DOID_0060503 obo:IAO_0000115 "A food allergy triggered by a plant fruit product."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060503"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "fruit allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001057 ] . obo:DOID_0060504 obo:IAO_0000115 "A fruit allergy triggered by Malus domestica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Malus domestica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060504"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "apple allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001611 ] . obo:DOID_0060505 obo:IAO_0000115 "A fruit allergy triggered by Prunus armeniaca plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus armeniaca fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060505"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "apricot allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001615 ] . obo:DOID_0060506 obo:IAO_0000115 "A fruit allergy triggered by Prunus avium plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus avium fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060506"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cherry allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001717 ] . obo:DOID_0060507 obo:IAO_0000115 "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Ziziphus mauritiana fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060507"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Indian plum allergy"@en ; rdfs:subClassOf obo:DOID_0060503 . obo:DOID_0060508 obo:IAO_0000115 "A fruit allergy triggered by Citrus sinensis plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Citrus sinensis fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060508"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "orange allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002071 ] . obo:DOID_0060509 obo:IAO_0000115 "A fruit allergy triggered by Cucumis melo plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Cucumis melo fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060509"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "melon allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002029 ] . obo:DOID_0060510 obo:IAO_0000115 "A fruit allergy triggered by Prunus persica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus persica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060510"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "peach allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002095 ] . obo:DOID_0060511 obo:IAO_0000115 "A fruit allergy triggered by Prunus domestica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus domestica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060511"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "plum allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002161 ] . obo:DOID_0060512 obo:IAO_0000115 "A fruit allergy triggered by Solanum lycopersicum plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Solanum lycopersicum fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060512"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tomato allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001164 ] . obo:DOID_0060513 obo:IAO_0000115 "A food allergy triggered by fish."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060513"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "fish allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001248 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_7898 ] . obo:DOID_0060514 obo:IAO_0000115 "A fish allergy triggered by Gadus morhua."^^xsd:string ; oboInOwl:hasExactSynonym "Gadus morhua fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060514"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Atlantic cod allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8049 ] . obo:DOID_0060515 obo:IAO_0000115 "A fish allergy triggered by Salmo salar."^^xsd:string ; oboInOwl:hasExactSynonym "Salmo salar fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060515"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Atlantic salmon allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001623 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8030 ] . obo:DOID_0060516 obo:IAO_0000115 "A fish allergy triggered by Cyprinus carpio."^^xsd:string ; oboInOwl:hasExactSynonym "Cyprinus carpio fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060516"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carp allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001684 ] . obo:DOID_0060517 obo:IAO_0000115 "A fish allergy triggered by Danio rerio."^^xsd:string ; oboInOwl:hasExactSynonym "Danio rerio allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060517"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "zebrafish allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_7955 ] . obo:DOID_0060518 obo:IAO_0000115 "A fish allergy triggered by Oncorhynchus mykiss."^^xsd:string ; oboInOwl:hasExactSynonym "Oncorhynchus mykiss allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060518"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "rainbow trout allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002185 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8022 ] . obo:DOID_0060519 obo:IAO_0000115 "A drug allergy triggered by a beta-lactam."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060519"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "beta-lactam allergy"@en ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_35627 ] . obo:DOID_0060520 obo:IAO_0000115 "A beta-lactam allergy triggered by penicillin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060520"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "penicillin allergy"@en ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_17334 ] . obo:DOID_0060521 obo:IAO_0000115 "A milk allergy triggered by Bos taurus milk."^^xsd:string ; oboInOwl:hasExactSynonym "Bos taurus milk allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060521"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cow milk allergy"@en ; rdfs:subClassOf obo:DOID_4376 . obo:DOID_0060522 obo:IAO_0000115 "A milk allergy triggered by Capra hircus milk."^^xsd:string ; oboInOwl:hasExactSynonym "Capra hircus milk allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060522"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "goat milk allergy"@en ; rdfs:subClassOf obo:DOID_4376 . obo:DOID_0060523 obo:IAO_0000115 "A shellfish allergy triggered by Mollusca."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060523"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "mollusc allergy"@en ; rdfs:subClassOf obo:DOID_0060495, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002044 ] . obo:DOID_0060524 obo:IAO_0000115 "A shellfish allergy triggered by Crustacea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060524"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "crustacean allergy"@en ; rdfs:subClassOf obo:DOID_0060495, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001792 ] . obo:DOID_0060525 obo:IAO_0000115 "A crustacean allergy triggered by Farfantepenaeus aztecus."^^xsd:string ; oboInOwl:hasExactSynonym "Farfantepenaeus aztecus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060525"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "brown shrimp allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6690 ] . obo:DOID_0060526 obo:IAO_0000115 "A crustacean allergy triggered by Scylla paramamosain."^^xsd:string ; oboInOwl:hasExactSynonym "Scylla paramamosain allergy"@en, "green mud crab allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060526"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "crab allergy"@en ; rdfs:subClassOf obo:DOID_0060524, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_85552 ] . obo:DOID_0060527 obo:IAO_0000115 "A crustacean allergy triggered by Fenneropenaeus indicus."^^xsd:string ; oboInOwl:hasExactSynonym "Fenneropenaeus indicus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060527"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Indian prawn allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_29960 ] . obo:DOID_0060528 obo:IAO_0000115 "A crustacean allergy triggered by Penaeus monodon."^^xsd:string ; oboInOwl:hasExactSynonym "Penaeus monodon allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060528"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tiger prawn allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6687 ] . obo:DOID_0060529 obo:IAO_0000115 "A crustacean allergy triggered by Litopenaeus vannamei."^^xsd:string ; oboInOwl:hasExactSynonym "Litopenaeus vannamei allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060529"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "white shrimp allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6689 ] . obo:DOID_0060530 obo:IAO_0000115 "A mollusc allergy triggered by snails."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060530"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "snail allergy"@en ; rdfs:subClassOf obo:DOID_0060523, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002244 ] . obo:DOID_0060531 obo:IAO_0000115 "A snail allergy triggered by the horned turban snail."^^xsd:string ; oboInOwl:hasExactSynonym "Turbo cornutus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060531"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "horned turban snail allergy"@en ; rdfs:subClassOf obo:DOID_0060530, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_63673 ] . obo:DOID_0060532 obo:IAO_0000115 "An allergic disease that is triggered by latex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060532"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "latex allergy"@en ; rdfs:subClassOf obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_3981 ] . obo:DOID_0060534 obo:IAO_0000115 "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C66950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060534"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoid adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_299 . obo:DOID_0060535 obo:IAO_0000115 "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:13708"^^xsd:string, "OMIM:613398"^^xsd:string, "ORDO:280558"^^xsd:string ; oboInOwl:hasExactSynonym "WABS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060535"^^xsd:string ; a owl:Class ; rdfs:label "Warsaw breakage syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060536 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded."^^xsd:string ; oboInOwl:hasDbXref "GARD:3908"^^xsd:string, "MESH:C537475"^^xsd:string, "OMIM:252010"^^xsd:string, "ORDO:2609"^^xsd:string, "UMLS_CUI:C1838979"^^xsd:string ; oboInOwl:hasExactSynonym "isolated NADH-CoQ reductase deficiency"@en, "isolated NADH-coenzyme Q reductase deficiency"@en, "isolated NADH-ubiquinone reductase deficiency"@en, "isolated mitochondrial respiratory chain complex I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060536"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex I deficiency"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060537 obo:IAO_0000115 "A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5053"^^xsd:string, "ICD10CM:G71.3"^^xsd:string, "MESH:C565375"^^xsd:string, "OMIM:252011"^^xsd:string, "ORDO:3208"^^xsd:string ; oboInOwl:hasExactSynonym "isolated mitochondrial respiratory chain complex II deficiency"@en, "isolated succinate-CoQ reductase deficiency"@en, "isolated succinate-coenzyme Q reductase deficiency"@en, "isolated succinate-ubiquinone reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060537"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex II deficiency"@en ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060538 obo:IAO_0000115 "A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D65"^^xsd:string, "MESH:D055665"^^xsd:string ; oboInOwl:hasExactSynonym "purpura gangrenosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060538"^^xsd:string ; a owl:Class ; rdfs:label "purpura fulminans"@en ; rdfs:subClassOf obo:DOID_3326, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0060539 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060539"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 1"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060540 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608233"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060540"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 2"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060541 obo:IAO_0000115 "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614072"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060541"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 3"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060542 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060542"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 4"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060543 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614074"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060543"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 5"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060544 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614075"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060544"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 6"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060545 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060545"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 7"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060546 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060546"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 8"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060547 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060547"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 9"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060548 obo:IAO_0000115 "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3."^^xsd:string ; oboInOwl:hasBroadSynonym "breast tumor luminal"@en, "luminal breast cancer"@en ; oboInOwl:hasDbXref "NCI:C53554"^^xsd:string, "UMLS_CUI:C3642345"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal A Breast Carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060548"^^xsd:string ; a owl:Class ; rdfs:label "luminal breast carcinoma A"@en ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0060549 obo:IAO_0000115 "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "GARD:819"^^xsd:string, "MESH:C537908"^^xsd:string, "OMIM:209885"^^xsd:string, "ORDO:1231"^^xsd:string, "SNOMEDCT_US_2021_03_01:408537003"^^xsd:string, "UMLS_CUI:C1319466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060549"^^xsd:string ; a owl:Class ; rdfs:label "Barber-Say syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060550 obo:IAO_0000115 "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "GARD:3"^^xsd:string, "MESH:C535557"^^xsd:string, "OMIM:200110"^^xsd:string, "ORDO:920"^^xsd:string, "SNOMEDCT_US_2021_03_01:718575002"^^xsd:string, "UMLS_CUI:C1860224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060550"^^xsd:string ; a owl:Class ; rdfs:label "ablepharon macrostomia syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060551 obo:IAO_0000115 "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4085"^^xsd:string, "ICD10CM:D82.8"^^xsd:string, "MESH:C565820"^^xsd:string, "OMIM:604173"^^xsd:string, "ORDO:221046"^^xsd:string ; oboInOwl:hasExactSynonym "poikiloderma with neutropenia, Clericuzio type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060551"^^xsd:string ; a owl:Class ; rdfs:label "poikiloderma with neutropenia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060556 obo:IAO_0000115 "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537177"^^xsd:string, "OMIM:606693"^^xsd:string, "ORDO:306674"^^xsd:string, "SNOMEDCT_US_2021_03_01:723992000"^^xsd:string, "UMLS_CUI:C1847640"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive Parkinson disease 9"@en, "autosomal recessive juvenile onset Parkinson disease 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060556"^^xsd:string ; a owl:Class ; rdfs:label "Kufor-Rakeb syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060557 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615217"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia-oculomotor apraxia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060557"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 3"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060558 obo:IAO_0000115 "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:12643"^^xsd:string, "ICD10CM:Q68.8"^^xsd:string, "OMIM:PS253310"^^xsd:string, "ORDO:294965"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060558"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060559 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:3227"^^xsd:string, "MESH:C537194"^^xsd:string, "OMIM:253310"^^xsd:string, "ORDO:1486"^^xsd:string, "SNOMEDCT_US_2021_03_01:715418007"^^xsd:string, "UMLS_CUI:C1854664"^^xsd:string ; oboInOwl:hasExactSynonym "LCCS1"@en, "multiple contracture syndrome, Finnish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060559"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060560 obo:IAO_0000115 "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9177"^^xsd:string, "MESH:C564369"^^xsd:string, "OMIM:607598"^^xsd:string, "ORDO:137776"^^xsd:string ; oboInOwl:hasExactSynonym "LCCS2"@en, "multiple contracture syndrome, Israeli-Bedouin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060560"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060561 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060561"^^xsd:string ; a owl:Class ; rdfs:label "obsolete DMD-related dilated cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_0060562 obo:IAO_0000115 "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D063748"^^xsd:string ; oboInOwl:hasExactSynonym "ALCAPA"@en, "Bland-White-Garland syndrome"@en, "White-Garland syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060562"^^xsd:string ; a owl:Class ; rdfs:label "anomalous left coronary artery from the pulmonary artery"@en ; rdfs:subClassOf obo:DOID_11843 . obo:DOID_0060563 obo:IAO_0000115 "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:1237"^^xsd:string, "MESH:C566815"^^xsd:string, "OMIM:169100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060563"^^xsd:string ; a owl:Class ; rdfs:label "Char syndrome"@en ; rdfs:subClassOf obo:DOID_13832 . obo:DOID_0060564 obo:IAO_0000115 "A bone disease that is located_in the spine."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060564"^^xsd:string ; a owl:Class ; rdfs:label "spinal disease"@en ; rdfs:subClassOf obo:DOID_0080001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ) ] . obo:DOID_0060565 obo:IAO_0000115 "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535313"^^xsd:string, "OMIM:PS220210"^^xsd:string, "ORDO:7"^^xsd:string, "SNOMEDCT_US_2021_03_01:718556007"^^xsd:string, "UMLS_CUI:C0796137"^^xsd:string ; oboInOwl:hasExactSynonym "CCC dysplasia"@en, "craniocerebellocardiac dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060565"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060566 obo:IAO_0000115 "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535327"^^xsd:string, "OMIM:236110"^^xsd:string, "ORDO:2167"^^xsd:string, "SNOMEDCT_US_2021_03_01:783159001"^^xsd:string, "UMLS_CUI:C1856095"^^xsd:string ; oboInOwl:hasExactSynonym "Holzgreve Wagner Rehder Syndrome"@en, "Holzgreve syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060566"^^xsd:string ; a owl:Class ; rdfs:label "Holzgreve-Wagner-Rehder Syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060567 obo:IAO_0000115 "A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks."^^xsd:string ; oboInOwl:hasDbXref "GARD:8653"^^xsd:string, "ICD10CM:L95.1"^^xsd:string, "MESH:C535509"^^xsd:string, "ORDO:90000"^^xsd:string, "SNOMEDCT_US_2021_03_01:201300002"^^xsd:string, "UMLS_CUI:C0263398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060567"^^xsd:string ; a owl:Class ; rdfs:label "erythema elevatum diutinum"@en ; rdfs:subClassOf obo:DOID_865 . obo:DOID_0060569 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly."^^xsd:string ; oboInOwl:hasDbXref "GARD:8585"^^xsd:string, "MESH:C535572"^^xsd:string, "OMIM:239850"^^xsd:string ; oboInOwl:hasExactSynonym "Cantu syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060569"^^xsd:string ; a owl:Class ; rdfs:label "hypertrichotic osteochondrodysplasia Cantu type"@en ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060570 obo:IAO_0000115 "A tuberculosis located in the heart."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014381"^^xsd:string ; oboInOwl:hasNarrowSynonym "cardiovascular tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060570"^^xsd:string ; a owl:Class ; rdfs:label "cardiac tuberculosis"@en ; rdfs:subClassOf obo:DOID_114, obo:DOID_399 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_399 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_0060571 obo:IAO_0000115 "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:220210"^^xsd:string, "ORDO:7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060571"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060565, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060572 obo:IAO_0000115 "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300963"^^xsd:string, "ORDO:7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060572"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060565, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060573 obo:IAO_0000115 "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056725"^^xsd:string, "NCI:C131685"^^xsd:string, "OMIM:193400"^^xsd:string, "SNOMEDCT_US_2021_03_01:128106003"^^xsd:string, "UMLS_CUI:C1264039"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 1"@en, "VWD1"@en, "von Willebrand disease type 1"@en, "von Willebrand disease type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "von Willebrand's disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12531 . obo:DOID_0060574 obo:IAO_0000115 "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056728"^^xsd:string, "OMIM:613554"^^xsd:string, "ORDO:166081"^^xsd:string, "SNOMEDCT_US_2021_03_01:128107007"^^xsd:string, "UMLS_CUI:C1264040"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 2"@en, "VWD2"@en, "von Willebrand disease type 2"@en, "von Willebrand disease type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060574"^^xsd:string ; a owl:Class ; rdfs:label "von Willebrand's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12531 . obo:DOID_0060575 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060575"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 . obo:DOID_0060576 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:265050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060576"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 ; owl:disjointWith obo:DOID_0060577 . obo:DOID_0060577 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:248340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060577"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 . obo:DOID_0060578 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070101"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:163950"^^xsd:string ; oboInOwl:hasExactSynonym "NS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060578"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060580 obo:IAO_0000115 "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070102"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:605275"^^xsd:string ; oboInOwl:hasExactSynonym "NS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060580"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060581 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070103"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:609942"^^xsd:string ; oboInOwl:hasExactSynonym "NS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060581"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060582 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070104"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:610733"^^xsd:string ; oboInOwl:hasExactSynonym "NS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060582"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060583 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070105"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:611553"^^xsd:string ; oboInOwl:hasExactSynonym "NS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060583"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060584 obo:IAO_0000115 "A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070106"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:613224"^^xsd:string ; oboInOwl:hasExactSynonym "NS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060584"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060585 obo:IAO_0000115 "A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070107"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:613706"^^xsd:string ; oboInOwl:hasExactSynonym "NS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060585"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060586 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070108"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:615355"^^xsd:string ; oboInOwl:hasExactSynonym "NS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060586"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060587 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070109"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:616559"^^xsd:string ; oboInOwl:hasExactSynonym "NS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060587"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060588 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070110"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:616564"^^xsd:string ; oboInOwl:hasExactSynonym "NS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060588"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060589 obo:IAO_0000115 "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:331"^^xsd:string, "MESH:C536719"^^xsd:string, "OMIM:216340"^^xsd:string, "UMLS_CUI:C1857663"^^xsd:string ; oboInOwl:hasExactSynonym "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"@en, "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060589"^^xsd:string ; a owl:Class ; rdfs:label "Yunis-Varon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060590 obo:IAO_0000115 "A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10628"^^xsd:string, "MESH:C567043"^^xsd:string, "OMIM:610965"^^xsd:string ; oboInOwl:hasExactSynonym "XFEPS"@en, "XPF-ERCC1 progeroid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060590"^^xsd:string ; a owl:Class ; rdfs:label "XFE progeroid syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060591 obo:IAO_0000115 "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9297"^^xsd:string, "MESH:C536697"^^xsd:string, "OMIM:193670"^^xsd:string, "SNOMEDCT_US_2021_03_01:234571003"^^xsd:string, "UMLS_CUI:C0472817"^^xsd:string ; oboInOwl:hasExactSynonym "WHIMS"@en, "warts, hypogammaglobulinemia, infections, and myelokathexis"@en, "warts-hypogammaglobulinemia-infections-myelokathexis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060591"^^xsd:string ; a owl:Class ; rdfs:label "WHIM syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060592 obo:IAO_0000115 "An adult acute ymphoblastic leukemia occurring in adults and that has_mateiral_basis_in B lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9143"^^xsd:string ; oboInOwl:hasExactSynonym "B-cell adult acute lymphocytic leukaemia"@en, "adult B acute lymphoblastic leukaemia"@en, "adult B acute lymphoblastic leukemia"@en, "adult B-lymphoblastic leukaemia"@en, "adult B-lymphoblastic leukemia"@en, "adult b-cell acute lymphoblastic leukaemia"@en, "adult b-cell acute lymphoblastic leukemia"@en, "adult b-cell lymphocytic leukaemia"@en, "adult b-cell lymphocytic leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060592"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "B-cell adult acute lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0060597 obo:IAO_0000115 "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C92.2"^^xsd:string, "ICD9CM:205.2"^^xsd:string, "MESH:D054438"^^xsd:string, "NCI:C3519"^^xsd:string, "ORDO:98824"^^xsd:string, "SNOMEDCT_US_2021_03_01:128826001"^^xsd:string, "UMLS_CUI:C1292772"^^xsd:string ; oboInOwl:hasExactSynonym "aCML"@en, "atypical CML"@en, "atypical chronic myeloid leukaemia"@en, "atypical chronic myeloid leukaemia BCR-ABL1 negative"@en, "atypical chronic myeloid leukemia BCR-ABL1 negative"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060597"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical chronic myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4972 . obo:DOID_0060599 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies."^^xsd:string ; oboInOwl:hasDbXref "GARD:7161"^^xsd:string, "MESH:C538336"^^xsd:string, "OMIM:302350"^^xsd:string, "ORDO:627"^^xsd:string, "SNOMEDCT_US_2021_03_01:445257004"^^xsd:string, "UMLS_CUI:C0796085"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060599"^^xsd:string ; a owl:Class ; rdfs:label "Nance-Horan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060600 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum"^^xsd:string ; owl:deprecated true . obo:DOID_0060601 obo:IAO_0000115 "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.8"^^xsd:string, "OMIM:262850"^^xsd:string, "ORDO:79"^^xsd:string ; oboInOwl:hasExactSynonym "antiplasmin defiency"@en, "plasmin inhibitor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060601"^^xsd:string ; a owl:Class ; rdfs:label "alpha-2-plasmin inhibitor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2213, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060602 obo:IAO_0000115 "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614307"^^xsd:string ; oboInOwl:hasExactSynonym "AMACR deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060602"^^xsd:string ; a owl:Class ; rdfs:label "alpha-methylacyl-CoA racemase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0060603 obo:IAO_0000115 "An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106190"^^xsd:string ; oboInOwl:hasExactSynonym "Dann-Epstein-Sohar syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060603"^^xsd:string ; a owl:Class ; rdfs:label "isolated anhidrosis with normal sweat glands"^^xsd:string ; rdfs:subClassOf obo:DOID_11156 . obo:DOID_0060604 obo:IAO_0000115 "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q38.1"^^xsd:string, "OMIM:106280"^^xsd:string ; oboInOwl:hasExactSynonym "tongue-tie"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060604"^^xsd:string ; a owl:Class ; rdfs:label "ankyloglossia"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 ; skos:exactMatch "MESH:D000072676"^^xsd:string . obo:DOID_0060605 obo:IAO_0000115 "An eye disease that is characterized by impaired development of the anterior segment of the eye."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060605"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anterior segment mesenchymal dysgenesis"^^xsd:string ; owl:deprecated true . obo:DOID_0060606 obo:IAO_0000115 "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060606"^^xsd:string ; a owl:Class ; rdfs:label "fetal nicotine spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_0060608 obo:IAO_0000115 "A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5120"^^xsd:string, "ICD10CM:Q87.1"^^xsd:string, "OMIM:210710"^^xsd:string, "ORDO:2636"^^xsd:string ; oboInOwl:hasExactSynonym "Taybi-Linder syndrome"@en, "brachymelic primordial dwarfism"@en, "cephaloskeletal dysplasia"@en, "low-birth-weight dwarfism with skeletal dysplasia"@en, "osteodysplastic primordial dwarfism type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060608"^^xsd:string ; a owl:Class ; rdfs:label "microcephalic osteodysplastic primordial dwarfism type I"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060609 obo:IAO_0000115 "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:210720"^^xsd:string, "ORDO:2637"^^xsd:string ; oboInOwl:hasExactSynonym "Majewski osteodysplastic primordial dwarfism type II"@en, "osteodysplastic primordial dwarfism type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060609"^^xsd:string ; a owl:Class ; rdfs:label "microcephalic osteodysplastic primordial dwarfism type II"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060610 obo:IAO_0000115 "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536138"^^xsd:string, "NCI:C98982"^^xsd:string, "OMIM:155310"^^xsd:string, "ORDO:2241"^^xsd:string, "SNOMEDCT_US_2021_03_01:253781004"^^xsd:string, "UMLS_CUI:C1608393"^^xsd:string ; oboInOwl:hasExactSynonym "Berdon syndrome"@en, "Megacystis microcolon intestinal hypoperistalsis syndrome"@en, "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH"@en, "visceral myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060610"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "megacystis-microcolon-intestinal hypoperistalsis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060611 obo:IAO_0000115 "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:9226"^^xsd:string, "OMIM:PS605552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060611"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060612 obo:IAO_0000115 "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615812"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060612"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060611 . obo:DOID_0060613 obo:IAO_0000115 "A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:303400"^^xsd:string, "ORDO:324601"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked cleft palate and ankyloglossia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060613"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cleft palate with or without ankyloglossia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_674, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0060614 obo:IAO_0000115 "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:118"^^xsd:string, "MESH:C536937"^^xsd:string, "OMIM:181450"^^xsd:string, "ORDO:3138"^^xsd:string, "SNOMEDCT_US_2021_03_01:700211007"^^xsd:string, "UMLS_CUI:C1866994"^^xsd:string ; oboInOwl:hasExactSynonym "Pallister ulnar-mammary syndrome"@en, "Schinzel syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060614"^^xsd:string ; a owl:Class ; rdfs:label "ulnar-mammary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060638 obo:IAO_0000115 "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610199"^^xsd:string, "ORDO:79118"^^xsd:string ; oboInOwl:hasExactSynonym "NDH syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060638"^^xsd:string ; a owl:Class ; rdfs:label "neonatal diabetes mellitus with congenital hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_11717, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060639 obo:IAO_0000115 "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10457"^^xsd:string, "OMIM:606176"^^xsd:string ; oboInOwl:hasExactSynonym "PDMI"@en, "PNDM"@en, "permanent diabetes mellitus of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060639"^^xsd:string ; a owl:Class ; rdfs:label "permanent neonatal diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_11717, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060640 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2198"^^xsd:string, "MESH:C535737"^^xsd:string, "OMIM:602473"^^xsd:string, "ORDO:51188"^^xsd:string, "SNOMEDCT_US_2021_03_01:723307008"^^xsd:string, "UMLS_CUI:C1865349"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060640"^^xsd:string ; a owl:Class ; rdfs:label "ethylmalonic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060641 obo:IAO_0000115 "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:612651"^^xsd:string, "ORDO:199332"^^xsd:string ; oboInOwl:hasExactSynonym "ECO syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060641"^^xsd:string ; a owl:Class ; rdfs:label "endocrine-cerebro-osteodysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060642 obo:IAO_0000115 "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.2"^^xsd:string, "OMIM:226600"^^xsd:string, "ORDO:79408"^^xsd:string ; oboInOwl:hasExactSynonym "RDEB, Hallopeau-Siemens type"@en, "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"@en, "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"@en ; oboInOwl:hasNarrowSynonym "severe generalized RDEB"@en, "severe generalized recessive dystrophic epidermolysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060642"^^xsd:string ; a owl:Class ; rdfs:label "recessive dystrophic epidermolysis bullosa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060643 obo:IAO_0000115 "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension."^^xsd:string ; oboInOwl:hasDbXref "GARD:1280"^^xsd:string, "ICD10CM:K83.01"^^xsd:string, "MESH:D015209"^^xsd:string, "NCI:C4828"^^xsd:string, "OMIM:613806"^^xsd:string, "ORDO:171"^^xsd:string, "SNOMEDCT_US_2021_03_01:4032000"^^xsd:string, "UMLS_CUI:C0566602"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "primary sclerosing cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_14268 . obo:DOID_0060644 obo:IAO_0000115 "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536123"^^xsd:string, "OMIM:600092"^^xsd:string, "ORDO:1422"^^xsd:string, "SNOMEDCT_US_2021_03_01:720851007"^^xsd:string, "UMLS_CUI:C1838654"^^xsd:string ; oboInOwl:hasExactSynonym "Nivelon-Nivelon-Mabille syndrome"@en, "chondrodysplasia-disorder of sex development syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060644"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060645 obo:IAO_0000115 "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M86.3"^^xsd:string, "MESH:C535456"^^xsd:string, "OMIM:259680"^^xsd:string, "ORDO:324964"^^xsd:string ; oboInOwl:hasExactSynonym "CRMO"@en, "chronic multifocal osteomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060645"^^xsd:string ; a owl:Class ; rdfs:label "chronic recurrent multifocal osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_1019, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060646 obo:IAO_0000115 "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603523"^^xsd:string, "ORDO:264688"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060646"^^xsd:string ; a owl:Class ; rdfs:label "congenital chylothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060647 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613630"^^xsd:string, "ORDO:465824"^^xsd:string ; oboInOwl:hasExactSynonym "cocoon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060647"^^xsd:string ; a owl:Class ; rdfs:label "fetal encasement syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060648 obo:IAO_0000115 "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060605"^^xsd:string ; oboInOwl:hasDbXref "GARD:10025"^^xsd:string, "ICD10CM:Q13.8"^^xsd:string, "OMIM:PS107250"^^xsd:string, "ORDO:88632"^^xsd:string ; oboInOwl:hasExactSynonym "anterior segment developmental anomaly"@en, "corneal opacification and other ocular anomalies"@en, "sclerocornea with other ocular anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060648"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060649 obo:IAO_0000115 "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane."^^xsd:string ; oboInOwl:hasDbXref "OMIM:217700"^^xsd:string ; oboInOwl:hasExactSynonym "CHED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060649"^^xsd:string ; a owl:Class ; rdfs:label "congenital hereditary endothelial dystrophy of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060443, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060650 obo:IAO_0000115 "An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids."^^xsd:string ; oboInOwl:hasDbXref "GARD:1855"^^xsd:string, "MESH:C536171"^^xsd:string, "OMIM:222730"^^xsd:string, "ORDO:2195"^^xsd:string, "SNOMEDCT_US_2021_03_01:716747007"^^xsd:string, "UMLS_CUI:C1857253"^^xsd:string ; oboInOwl:hasExactSynonym "glutamate-aspartate transport defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060650"^^xsd:string ; a owl:Class ; rdfs:label "dicarboxylic aminoaciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060651 obo:IAO_0000115 "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:155100"^^xsd:string, "ORDO:182050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060651"^^xsd:string ; a owl:Class ; rdfs:label "MYH-9 related disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_0060652 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.0"^^xsd:string, "OMIM:133100"^^xsd:string, "ORDO:90042"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT1"@en, "autosomal dominant benign erythrocytosis"@en, "primary familial and congenital polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060652"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060653 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ORDO:137783"^^xsd:string ; oboInOwl:hasExactSynonym "Israeli Bedouin type B multiple contracture syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060653"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060654 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:12645"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060654"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060655 obo:IAO_0000115 "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1699"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "MESH:D017490"^^xsd:string, "NCI:C84805"^^xsd:string, "OMIM:PS242300"^^xsd:string, "ORDO:281097"^^xsd:string, "SNOMEDCT_US_2021_03_01:12215009"^^xsd:string, "UMLS_CUI:C0079154"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI"@en, "lamellar ichthyosis"@en, "non bullous congenital ichthyosiform erythroderma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060655"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060656 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:242300"^^xsd:string, "ORDO:100976"^^xsd:string, "ORDO:281122"^^xsd:string, "ORDO:313"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI1"@en ; oboInOwl:hasNarrowSynonym "bathing suit ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060656"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060668 obo:IAO_0000115 "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp."^^xsd:string ; oboInOwl:hasDbXref "GARD:5808"^^xsd:string, "ICD10CM:Q00.0"^^xsd:string, "OMIM:206500"^^xsd:string, "ORDO:1048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060668"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "anencephaly"@en ; rdfs:subClassOf obo:DOID_2490 ; skos:exactMatch "MESH:D000757"^^xsd:string . obo:DOID_0060669 obo:IAO_0000115 "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support."^^xsd:string ; oboInOwl:hasExactSynonym "cavernous angiomatous malformations"@en, "cerebral capillary malformations"@en, "familial cavernous angioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060669"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0060670 obo:IAO_0000115 "A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.3"^^xsd:string, "OMIM:603284"^^xsd:string, "ORDO:221061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060670"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0060671 obo:IAO_0000115 "A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.3"^^xsd:string, "OMIM:603285"^^xsd:string, "ORDO:221061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060671"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation 3"@en ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0060672 obo:IAO_0000115 "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G31.0"^^xsd:string, "OMIM:607485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060672"^^xsd:string ; a owl:Class ; rdfs:label "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9255, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060673 obo:IAO_0000115 "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7377"^^xsd:string, "ICD10CM:Q13.4"^^xsd:string, "MESH:C537884"^^xsd:string, "OMIM:604229"^^xsd:string, "ORDO:708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060673"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Peters anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060674 obo:IAO_0000115 "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:PS604772"^^xsd:string, "ORDO:3286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060674"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060675 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:604772"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060675"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060676 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:611938"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060676"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060677 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:614021"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060677"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060678 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:614916"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060678"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060679 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:615441"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060679"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060680 obo:IAO_0000115 "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563184"^^xsd:string, "OMIM:600510"^^xsd:string ; oboInOwl:hasExactSynonym "glaucoma-related pigment dispersion syndrome"@en, "pigment-dispersion type glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060680"^^xsd:string ; a owl:Class ; rdfs:label "pigment dispersion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060681 obo:IAO_0000115 "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations."^^xsd:string ; oboInOwl:hasDbXref "GARD:11918"^^xsd:string, "OMIM:PS600513"^^xsd:string, "ORDO:98784"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060681"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3331, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060682 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600513"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL1"@en, "nocturnal frontal lobe epilepsy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060682"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060683 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603204"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL2"@en, "nocturnal frontal lobe epilepsy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060683"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060684 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605375"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL3"@en, "nocturnal frontal lobe epilepsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060684"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060685 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610353"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL4"@en, "nocturnal frontal lobe epilepsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060685"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060686 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615005"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL5"@en, "nocturnal frontal lobe epilepsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060686"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060688 obo:IAO_0000115 "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.2"^^xsd:string, "MESH:D002538"^^xsd:string, "OMIM:108010"^^xsd:string, "ORDO:46724"^^xsd:string, "UMLS_CUI:C0007772"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral arteriovenous malformation"@en, "intracranial arteriovenous malformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060688"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "arteriovenous malformations of the brain"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_255, obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0060689 obo:IAO_0000115 "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L65.8"^^xsd:string, "OMIM:209500"^^xsd:string, "ORDO:86819"^^xsd:string ; oboInOwl:hasExactSynonym "papular atrichia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060689"^^xsd:string ; a owl:Class ; rdfs:label "atrichia with papular lesions"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_987, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060690 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609129"^^xsd:string ; oboInOwl:hasExactSynonym "AUNA1"@en, "NSDAN"@en, "nonsyndromic dominant auditory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060690"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant auditory neuropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0060691 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:187800"^^xsd:string, "ORDO:140957"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Glanzmann thrombasthenia"@en, "autosomal dominant thrombasthenia of Glanzmann and Naegeli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060691"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060692 obo:IAO_0000115 "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:609821"^^xsd:string, "ORDO:36355"^^xsd:string ; oboInOwl:hasExactSynonym "ADP platelet receptor P2Y12 defect"@en, "P2Y12 defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060692"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060693 obo:IAO_0000115 "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.8"^^xsd:string, "MESH:C563156"^^xsd:string, "OMIM:300615"^^xsd:string, "ORDO:3057"^^xsd:string ; oboInOwl:hasExactSynonym "monoamine oxidase A deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060693"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Brunner Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060694 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.0"^^xsd:string, "MESH:C563363"^^xsd:string, "OMIM:601238"^^xsd:string, "ORDO:94122"^^xsd:string ; oboInOwl:hasExactSynonym "Cayman cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060694"^^xsd:string ; a owl:Class ; rdfs:label "Cayman type cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060695 obo:IAO_0000115 "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:PS149400"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "Kok disease"@en, "congenital stiff man syndrome"@en, "familial startle disease"@en, "hereditary hyperekplexia"@en, "startle disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060695"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_0060696 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "MESH:D000071017"^^xsd:string, "OMIM:149400"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060696"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060697 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:614619"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060697"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060698 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:614618"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060698"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060699 obo:IAO_0000115 "A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion."^^xsd:string ; oboInOwl:hasDbXref "GARD:10828"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:PS145980"^^xsd:string, "ORDO:405"^^xsd:string ; oboInOwl:hasExactSynonym "FBH"@en, "FBHH"@en, "FHH"@en, "familial benign hypercalcemia"@en, "familial benign hypocalciuric hypercalcemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060699"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12678, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060700 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.5"^^xsd:string, "OMIM:145980"^^xsd:string, "ORDO:93372"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 1"@en, "HHC1"@en, "familial benign hypercalcemia 1"@en, "familial hypocalciuric hypercalcemia type I"@en, "hypocalciuric hypercalcemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060700"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060701 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9758"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:145981"^^xsd:string, "ORDO:101049"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 2"@en, "HHC2"@en, "familial hypocalciuric hypercalcemia type 2"@en, "hypocalciuric hypercalcemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060701"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060702 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2878"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:600740"^^xsd:string, "ORDO:101050"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 3"@en, "HHC3"@en, "familial hypocalciuric hypercalcemia type 3"@en, "hypocalciuric hypercalcemia type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060702"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060703 obo:IAO_0000115 "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7097"^^xsd:string, "MESH:C537369"^^xsd:string, "NCI:C84904"^^xsd:string, "OMIM:602849"^^xsd:string, "ORDO:53271"^^xsd:string, "SNOMEDCT_US_2021_03_01:440350001"^^xsd:string, "UMLS_CUI:C1864436"^^xsd:string ; oboInOwl:hasExactSynonym "FGFR3-related craniosynostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060703"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Muenke Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2340, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060704 obo:IAO_0000115 "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS308240"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060704"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0060705 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "GARD:7906"^^xsd:string, "ICD10CM:D82.3"^^xsd:string, "OMIM:308240"^^xsd:string ; oboInOwl:hasExactSynonym "XLP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060705"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked lymphoproliferative syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060706 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "GARD:10916"^^xsd:string, "ICD10CM:D82.3"^^xsd:string, "OMIM:300635"^^xsd:string ; oboInOwl:hasExactSynonym "XIAP deficiency"@en, "XLP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060706"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked lymphoproliferative syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060707 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:613011"^^xsd:string ; oboInOwl:hasExactSynonym "LPFS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060707"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060704, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060708 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:615122"^^xsd:string ; oboInOwl:hasExactSynonym "CD27 deficiency"@en, "LPFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060708"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060704, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060710 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:242100"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI2"@en, "BROCQ congenital ichthyosiform erythroderma nonbullous form"@en, "NCIE1"@en, "nonbullous congenital ichthyosiform erythroderma 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060710"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060711 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:606545"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI3"@en, "lamellar ichthyosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060711"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060712 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:601277"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI4A"@en, "ICR2B"@en, "ichthyosis congenita IIB"@en, "lamellar ichthyosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060712"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060713 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.4"^^xsd:string, "OMIM:242500"^^xsd:string, "ORDO:457"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI4B"@en, "harlequin ichthyosis"@en, "harlequin type ichthyosis congenita"@en, "harlequin type ichthyosis fetalis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060713"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060714 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:604777"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI5"@en, "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060714"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060715 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:612281"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060715"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060716 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615022"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060716"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060717 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:613943"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI8"@en, "lamellar ichthyosis 4"@en, "late-onset lamellar ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060717"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060718 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615023"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060718"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060719 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615024"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060719"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060720 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:602400"^^xsd:string ; oboInOwl:hasExactSynonym "IFAH syndrome"@en, "IHS"@en, "autosomal recessive ichthyosis with hypotrichosis"@en, "hypotrichosis-congenital ichthyosis syndrome"@en, "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis"@en, "ichthyosis-follicular atrophoderma-hypotrichosis syndrome"@en, "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"@en, "ichthyosis-hypotrichosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060720"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060728 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E77.8"^^xsd:string, "OMIM:615273"^^xsd:string, "ORDO:404454"^^xsd:string ; oboInOwl:hasExactSynonym "NGLY1-CDDG"@en, "congenital disorder of deglycosylation"@en, "congenital disorder of glycosylation type Iv"@en, "deficiency of N-glycanase 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060728"^^xsd:string ; a owl:Class ; rdfs:label "NGLY1-deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060730 obo:IAO_0000115 "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128100"^^xsd:string, "ORDO:256"^^xsd:string ; oboInOwl:hasExactSynonym "dystonia musculorum deformans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060730"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060731 obo:IAO_0000115 "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:8535"^^xsd:string, "ICD10CM:G47.3"^^xsd:string, "MESH:C536209"^^xsd:string, "OMIM:209880"^^xsd:string, "ORDO:661"^^xsd:string ; oboInOwl:hasExactSynonym "CCHS"@en, "Ondine curse"@en, "Ondine syndrome"@en, "central congenital hypoventilation syndrome"@en, "congenital central alveolar hypoventilation syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060731"^^xsd:string ; a owl:Class ; rdfs:label "congenital central hypoventilation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_11465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060732 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:158170"^^xsd:string, "ORDO:261112"^^xsd:string ; oboInOwl:hasExactSynonym "9p syndrome"@en, "Alfi syndrome"@en, "monosomy 9p syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060732"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 9p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060733 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.8"^^xsd:string, "OMIM:226730"^^xsd:string, "ORDO:79403"^^xsd:string ; oboInOwl:hasExactSynonym "Carmi syndrome"@en, "JEB-PA"@en, "epidermolysis bullosa junctionalis with pyloric atresia"@en, "junctional epidermolysis bullosa-pyloric atresia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060733"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa with pyloric atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060735 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:131760"^^xsd:string, "ORDO:79396"^^xsd:string ; oboInOwl:hasExactSynonym "EBS-gen sev"@en, "EBSDM"@en, "epidermolysis bullosa herpetiformis Dowling-Meara type"@en, "epidermolysis bullosa simplex, herpetiformis"@en, "generalized severe epidermolysis bullosa simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060735"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex Dowling-Meara type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060736 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:131950"^^xsd:string, "ORDO:79401"^^xsd:string ; oboInOwl:hasExactSynonym "EBS-O"@en, "EBS-Og"@en, "EBSOG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060736"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex Ogna type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060737 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.1"^^xsd:string, "OMIM:226700"^^xsd:string, "ORDO:79404"^^xsd:string ; oboInOwl:hasExactSynonym "Herlitz type epidermolysis bullosa junctionalis"@en, "Herlitz-Pearson-type epidermolysis bullosa"@en, "JEB-H"@en, "JEB-Herlitz type"@en, "epidermolysis bullosa letalis"@en, "junctional epidermolysis bullosa generalisata gravis"@en, "junctional epidermolysis bullosa, Herlitz-Pearson type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060737"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa Herlitz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060738 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.8"^^xsd:string, "OMIM:226650"^^xsd:string, "ORDO:79402"^^xsd:string, "ORDO:89840"^^xsd:string ; oboInOwl:hasExactSynonym "GABEB"@en, "JEB-nH gen"@en, "JEN-nH"@en, "generalized atrophic benign epidermolysis bullosa"@en, "generalized junctional epidermolysis bullosa, non-Herlitz type"@en, "junctional epidermolysis bullosa generalisata mitis"@en, "junctional epidermolysis bullosa, Disentis type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060738"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa non-Herlitz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060739 obo:IAO_0000115 "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:2594"^^xsd:string, "ICD10CM:Q51.2"^^xsd:string, "OMIM:140000"^^xsd:string, "ORDO:2438"^^xsd:string ; oboInOwl:hasExactSynonym "HFGS"@en, "hand-foot-uterus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060739"^^xsd:string ; a owl:Class ; rdfs:label "hand-foot-genital syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0060740 obo:IAO_0000115 "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251000"^^xsd:string, "ORDO:27"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"@en, "methylmalonic aciduria mut type"@en, "vitamin B12-unresponsive methylmalonic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060740"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060741 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:613646"^^xsd:string, "ORDO:280183"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic acidemia, TCblR type"@en, "methylmalonic aciduria due to transcobalamin receptor defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060741"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia due to transcobalamin receptor defect"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060742 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251100"^^xsd:string, "ORDO:79310"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic aciduria cblA type"@en, "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060742"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia cblA type"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060743 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251110"^^xsd:string, "ORDO:79311"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic aciduria cblB type"@en, "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060743"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia cblB type"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060744 obo:IAO_0000115 "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."^^xsd:string ; oboInOwl:hasDbXref "GARD:4271"^^xsd:string, "ICD10CM:E07.1"^^xsd:string, "MESH:C536648"^^xsd:string, "NCI:C121745"^^xsd:string, "OMIM:274600"^^xsd:string, "ORDO:705"^^xsd:string, "SNOMEDCT_US_2021_03_01:70348004"^^xsd:string, "UMLS_CUI:C0271829"^^xsd:string ; oboInOwl:hasExactSynonym "TDH2B"@en, "congenital hypothyroidism due to dyshormonogenesis 2B"@en, "deafness with goiter"@en, "genetic defect in thyroid hormonogenesis 2B"@en, "goiter-deafness syndrome"@en, "thyroid dyshormonogenesis 2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060744"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pendred Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060745 obo:IAO_0000115 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "GARD:1912"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "MESH:C535602"^^xsd:string, "OMIM:126600"^^xsd:string, "ORDO:75376"^^xsd:string ; oboInOwl:hasExactSynonym "DHRD"@en, "Doyne honeycomb degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060745"^^xsd:string ; a owl:Class ; rdfs:label "Doyne honeycomb retinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2569, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060746 obo:IAO_0000115 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:126700"^^xsd:string, "ORDO:75376"^^xsd:string ; oboInOwl:hasExactSynonym "cuticular drusen"@en, "drusen of bruch membrane"@en, "early adult-onset grouped drusen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060746"^^xsd:string ; a owl:Class ; rdfs:label "basal laminar drusen"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_2569, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060747 obo:IAO_0000115 "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9182"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:607323"^^xsd:string, "ORDO:93293"^^xsd:string ; oboInOwl:hasExactSynonym "DR syndrome"@en, "Duane anomaly with radial ray abnormalities and deafness"@en, "Okihiro syndrome"@en, "acrorenocular syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060747"^^xsd:string ; a owl:Class ; rdfs:label "Duane-radial ray syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060748 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600512"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL1"@en, "partial epilepsy with auditory features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060748"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060749 obo:IAO_0000115 "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615697"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "ETL6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060749"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060750 obo:IAO_0000115 "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611630"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "FMTLE"@en, "familial mesial temporal lobe epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060750"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060751 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616436"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060751"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060752 obo:IAO_0000115 "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614417"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "ETL5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060752"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060753 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611631"^^xsd:string, "ORDO:98819"^^xsd:string ; oboInOwl:hasExactSynonym "EPOLM"@en, "ETL4"@en, "occipitotemporal lobe epilepsy and migraine with aura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060753"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060754 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616461"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060754"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060755 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608096"^^xsd:string, "ORDO:98819"^^xsd:string ; oboInOwl:hasExactSynonym "ETL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060755"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060756 obo:IAO_0000115 "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M85.2"^^xsd:string, "OMIM:269500"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "SOST1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060756"^^xsd:string ; a owl:Class ; rdfs:label "sclerosteosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060251, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060757 obo:IAO_0000115 "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M85.2"^^xsd:string, "OMIM:614305"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "SOST2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060757"^^xsd:string ; a owl:Class ; rdfs:label "sclerosteosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060251, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060758 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:605258"^^xsd:string, "ORDO:101089"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "AID deficiency"@en, "HIGM2"@en, "activation-induced cytidine deaminase deficiency"@en, "hyper-IgM syndrome type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060758"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper-IgM type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060759 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:608106"^^xsd:string, "ORDO:101092"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "HIGM5"@en, "hyper-IgM syndrome 5"@en, "hyper-IgM syndrome due to UNG deficiency"@en, "hyper-IgM syndrome due to uracil N-glycosylase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060759"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper IgM type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060760 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:608184"^^xsd:string, "ORDO:101091"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "HIGM4"@en, "hyper-IgM syndrome type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060760"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper-IgM type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0080544 . obo:DOID_0060761 obo:IAO_0000115 "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600080"^^xsd:string ; oboInOwl:hasExactSynonym "familial CML-like syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060761"^^xsd:string ; a owl:Class ; rdfs:label "familial chronic myelocytic leukemia-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8552 . obo:DOID_0060762 obo:IAO_0000115 "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536920"^^xsd:string, "OMIM:275210"^^xsd:string, "ORDO:1662"^^xsd:string, "SNOMEDCT_US_2021_03_01:400128006"^^xsd:string, "UMLS_CUI:C0406585"^^xsd:string ; oboInOwl:hasExactSynonym "hyperkeratosis-contracture syndrome"@en, "tight skin contracture syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060762"^^xsd:string ; a owl:Class ; rdfs:label "lethal restrictive dermopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060763 obo:IAO_0000115 "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q14.1"^^xsd:string, "OMIM:312700"^^xsd:string, "ORDO:792"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked juvenile retinoschisis"@en, "X-linked retinoschisis"@en, "XLRS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060763"^^xsd:string ; a owl:Class ; rdfs:label "X-linked juvenile retinoschisis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060764 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:268310"^^xsd:string, "ORDO:1507"^^xsd:string ; oboInOwl:hasExactSynonym "COVESDEM syndrome"@en, "RRS"@en, "costovertebral segmentation defect-mesomelia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060764"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Robinow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060765 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616331"^^xsd:string, "ORDO:3107"^^xsd:string ; oboInOwl:hasExactSynonym "DRS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060765"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060766 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:180700"^^xsd:string, "ORDO:3107"^^xsd:string ; oboInOwl:hasExactSynonym "DRS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060766"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060767 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616894"^^xsd:string, "ORDO:3107"^^xsd:string, "ORDO:97360"^^xsd:string ; oboInOwl:hasExactSynonym "DRS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060767"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060768 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region."^^xsd:string ; oboInOwl:hasDbXref "GARD:8197"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:D058496"^^xsd:string, "OMIM:182290"^^xsd:string, "ORDO:819"^^xsd:string ; oboInOwl:hasExactSynonym "17p11.2 microdeletion syndrome"@en, "chromosome 17p11.2 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060768"^^xsd:string ; a owl:Class ; rdfs:label "Smith-Magenis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060769 obo:IAO_0000115 "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D82.8"^^xsd:string, "OMIM:601705"^^xsd:string, "ORDO:169095"^^xsd:string ; oboInOwl:hasExactSynonym "alymphoid cystic thymic dysgenesis"@en, "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome"@en, "winged helix deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060769"^^xsd:string ; a owl:Class ; rdfs:label "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060770 obo:IAO_0000115 "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.3"^^xsd:string, "OMIM:PS608808"^^xsd:string, "ORDO:860"^^xsd:string ; oboInOwl:hasExactSynonym "D-TGA"@en, "congenitally uncorrected transposition of the great arteries"@en, "congenitally uncorrected transposition of the great vessels"@en, "isolated ventriculoarterial discordance"@en, "ventriculoarterial discordance with atrioventricular concordance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060770"^^xsd:string ; a owl:Class ; rdfs:label "dextro-looped transposition of the great arteries"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_0060771 obo:IAO_0000115 "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.3"^^xsd:string, "OMIM:608808"^^xsd:string ; oboInOwl:hasExactSynonym "DTGA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060771"^^xsd:string ; a owl:Class ; rdfs:label "dextro-looped transposition of the great arteries 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060770, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060772 obo:IAO_0000115 "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.3"^^xsd:string, "OMIM:613854"^^xsd:string ; oboInOwl:hasExactSynonym "DTGA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060772"^^xsd:string ; a owl:Class ; rdfs:label "dextro-looped transposition of the great arteries 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060770, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060773 obo:IAO_0000115 "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:375"^^xsd:string, "OMIM:225060"^^xsd:string, "ORDO:3253"^^xsd:string ; oboInOwl:hasExactSynonym "CLPED1"@en, "Margarita type of ectodermal dysplasia"@en, "Zlotogora-Zilberman-Tenenbaum syndrome"@en, "cleft lip/palate-syndactyly-pili torti syndrome"@en, "syndactyly-ectodermal dysplasia-cleft/lip palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060773"^^xsd:string ; a owl:Class ; rdfs:label "cleft lip-palate-ectodermal dysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060774 obo:IAO_0000115 "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS214700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060774"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060775 obo:IAO_0000115 "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:7039"^^xsd:string, "ICD10CM:P78.3"^^xsd:string, "MESH:C537470"^^xsd:string, "OMIM:251850"^^xsd:string, "ORDO:2290"^^xsd:string ; oboInOwl:hasExactSynonym "Davidson disease"@en, "MVD"@en, "congenital familial protracted diarrhea with enterocyte brush-border abnormalities"@en, "congenital microvillus atrophy"@en, "diarrhea 2 with microvillus atrophy"@en, "intractable diarrhea of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060775"^^xsd:string ; a owl:Class ; rdfs:label "microvillus inclusion disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060776 obo:IAO_0000115 "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:613217"^^xsd:string, "ORDO:92050"^^xsd:string ; oboInOwl:hasExactSynonym "DIAR5"@en, "congenital diarrhoea 5 with tufting enteropathy"@en, "congenital familial intractable diarrhea with epithelial or epithelium abnormalities"@en, "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities"@en, "congenital tufting enteropathy"@en, "tufting enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060776"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 5 with tufting enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060777 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:616868"^^xsd:string, "ORDO:103908"^^xsd:string ; oboInOwl:hasExactSynonym "DIAR8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060777"^^xsd:string ; a owl:Class ; rdfs:label "congenital secretory sodium diarrhea 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060778 obo:IAO_0000115 "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:615863"^^xsd:string, "ORDO:329242"^^xsd:string ; oboInOwl:hasExactSynonym "congenital chronic diarrhea with exudative enteropathy"@en, "congenital chronic diarrhea with protein-losing enteropathy"@en, "congenital chronic diarrhoea with exudative enteropathy"@en, "congenital chronic diarrhoea with protein-losing enteropathy"@en, "congenital diarrhoea 7 with exudative enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060778"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 7 with exudative enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060779 obo:IAO_0000115 "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:610370"^^xsd:string, "ORDO:83620"^^xsd:string ; oboInOwl:hasExactSynonym "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"@en, "congenital malabsorptive diarrhoea 4"@en, "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells"@en, "enteric anendocrinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060779"^^xsd:string ; a owl:Class ; rdfs:label "congenital malabsorptive diarrhea 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060780 obo:IAO_0000115 "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:614616"^^xsd:string, "ORDO:314373"^^xsd:string ; oboInOwl:hasExactSynonym "chronic diarrhea due to guanylate cyclase 2C overactivity"@en, "chronic diarrhoea due to guanylate cyclase 2C overactivity"@en, "congenital diarrhoea 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060780"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060781 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:270420"^^xsd:string, "ORDO:103908"^^xsd:string ; oboInOwl:hasExactSynonym "congenital secretory sodium diarrhea 3 syndromic"@en, "congenital secretory sodium diarrhea 3 with or without other congenital anomalies"@en, "congenital secretory sodium diarrhoea 3"@en, "congenital secretory sodium diarrhoea 3 syndromic"@en, "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060781"^^xsd:string ; a owl:Class ; rdfs:label "congenital secretory sodium diarrhea 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060782 obo:IAO_0000115 "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "Rudiger syndrome 1"@en, "Walker-Clodius syndrome"@en, "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome"@en, "ectrodactyly-ectodermal dysplasia-clefting syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060782"^^xsd:string ; a owl:Class ; rdfs:label "EEC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:C536189"^^xsd:string . obo:DOID_0060783 obo:IAO_0000115 "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "OMIM:604292"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "EEC syndrome 3"@en, "EEC3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060783"^^xsd:string ; a owl:Class ; rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060782 . obo:DOID_0060784 obo:IAO_0000115 "An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "OMIM:129900"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "EEC syndrome 1"@en, "EEC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060784"^^xsd:string ; a owl:Class ; rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060785 obo:IAO_0000115 "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10587"^^xsd:string, "OMIM:169500"^^xsd:string, "ORDO:99027"^^xsd:string, "SNOMEDCT_US_2021_03_01:448054001"^^xsd:string, "UMLS_CUI:C3164344"^^xsd:string ; oboInOwl:hasExactSynonym "ADLD"@en, "adult-onset autosomal dominant leukodystrophy"@en, "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060785"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset autosomal dominant demyelinating leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0060786 obo:IAO_0000115 "A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS312080"^^xsd:string ; oboInOwl:hasExactSynonym "HLD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060786"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0060787 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:608804"^^xsd:string, "ORDO:280282"^^xsd:string ; oboInOwl:hasExactSynonym "HLD2"@en, "PMLD1"@en, "Pelizaeus-Merzbacher-like disease 1"@en, "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060787"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060788 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616420"^^xsd:string ; oboInOwl:hasExactSynonym "HLD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060788"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060789 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:612233"^^xsd:string, "ORDO:280288"^^xsd:string ; oboInOwl:hasExactSynonym "HLD4"@en, "MitCHAP60 disease"@en, "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"@en, "mitochondrial HSP60 chaperonopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060789"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060790 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:260600"^^xsd:string, "ORDO:280293"^^xsd:string ; oboInOwl:hasExactSynonym "HLD3"@en, "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060790"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060791 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:616140"^^xsd:string, "ORDO:438114"^^xsd:string ; oboInOwl:hasExactSynonym "HLD9"@en, "RARS-related autosomal recessive hypomyelinating leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060791"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060792 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:616494"^^xsd:string ; oboInOwl:hasExactSynonym "HLD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060792"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060793 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G37.8"^^xsd:string, "OMIM:610532"^^xsd:string, "ORDO:85163"^^xsd:string ; oboInOwl:hasExactSynonym "HLD5"@en, "hypomyelination-congenital cataract syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060793"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060794 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:607694"^^xsd:string, "ORDO:137639"^^xsd:string, "ORDO:447893"^^xsd:string, "ORDO:447896"^^xsd:string, "ORDO:77295"^^xsd:string ; oboInOwl:hasExactSynonym "HLD7"@en, "TACH syndrome"@en, "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy"@en, "dentoleukoencephalopathy"@en, "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"@en, "leukodystrophy with oligodontia"@en, "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"@en, "tremor-ataxia-central hypomyelination syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060794"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060795 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616881"^^xsd:string ; oboInOwl:hasExactSynonym "HLD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060795"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060796 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616683"^^xsd:string ; oboInOwl:hasExactSynonym "HLD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060796"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060797 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:614381"^^xsd:string ; oboInOwl:hasExactSynonym "HLD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060797"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060798 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:612438"^^xsd:string, "ORDO:139441"^^xsd:string ; oboInOwl:hasExactSynonym "H-ABC"@en, "HABC"@en, "HLD6"@en, "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum"@en, "hypomyelination with atrophy of basal ganglia and cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060798"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060799 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537723"^^xsd:string, "NCI:C126747"^^xsd:string, "OMIM:300260"^^xsd:string, "ORDO:85281"^^xsd:string, "SNOMEDCT_US_2021_03_01:702816000"^^xsd:string, "UMLS_CUI:C1846058"^^xsd:string ; oboInOwl:hasExactSynonym "Lubs X-linked mental retardation syndrome"@en, "MECP2 duplication syndrome"@en, "MRXSL"@en, "X-linked intellectual disability-hypotonia-recurrent Infections syndrome"@en, "mental retardation, X-linked, syndromic, Lubs type"@en, "mental retardation, X-linked, with recurrent respiratory infections"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Lubs type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0060429, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0060800 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535773"^^xsd:string, "NCI:C124839"^^xsd:string, "OMIM:304340"^^xsd:string, "ORDO:1568"^^xsd:string, "ORDO:85335"^^xsd:string, "SNOMEDCT_US_2021_03_01:719139003"^^xsd:string, "UMLS_CUI:C0796254"^^xsd:string ; oboInOwl:hasExactSynonym "Fried syndrome"@en, "MRX59"@en, "MRXS21"@en, "Mental retardation, X-linked syndromic 5"@en, "Pettigrew syndrome"@en, "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"@en, "X-linked mental retardation 59"@en, "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures"@en, "syndromic X-linked mental retardation 21"@en, "syndromic X-linked mental retardation Fried type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060801 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537451"^^xsd:string, "OMIM:300148"^^xsd:string, "ORDO:85282"^^xsd:string, "SNOMEDCT_US_2021_03_01:722037004"^^xsd:string, "UMLS_CUI:C1846278"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS20"@en, "MRXS25"@en, "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"@en, "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity"@en, "syndromic X-linked mental retardation 20"@en, "syndromic X-linked mental retardation 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060801"^^xsd:string ; a owl:Class ; rdfs:label "MEHMO syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060802 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5615"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:309583"^^xsd:string, "ORDO:3063"^^xsd:string ; oboInOwl:hasExactSynonym "SRS"@en, "Snyder-Robinson mental retardation syndrome"@en, "Snyder-Robinson syndrome"@en, "mental retardation, X-linked, Snyder-Robinson type"@en, "spermine synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060802"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Snyder type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060803 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300858"^^xsd:string, "ORDO:289483"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked mental retardation with alacrima and achalasia"@en, "intellectual disability-alacrima-achalasia syndrome"@en, "mental retardation, X-linked, syndromic 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060803"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060804 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:309545"^^xsd:string, "ORDO:85290"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability, Wilson type"@en, "mental retardation, X-linked, syndromic 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060804"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060805 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309610"^^xsd:string, "ORDO:2958"^^xsd:string ; oboInOwl:hasExactSynonym "Prieto-Badia-Mulas syndrome"@en, "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060805"^^xsd:string ; a owl:Class ; rdfs:label "Prieto syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060806 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300423"^^xsd:string, "ORDO:93952"^^xsd:string ; oboInOwl:hasExactSynonym "MRXE"@en, "MRXSH"@en, "X-linked mental retardation with epilepsy"@en, "mental retardation, X-linked, syndromic, Hedera type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060806"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Hedera type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060807 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:12669"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "OMIM:300749"^^xsd:string, "ORDO:163937"^^xsd:string ; oboInOwl:hasExactSynonym "MICPCH"@en, "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"@en, "mental retardation and microcephaly with pontine and cerebellar hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060807"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Najm type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060808 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9156"^^xsd:string, "MESH:C537449"^^xsd:string, "OMIM:300218"^^xsd:string, "ORDO:85274"^^xsd:string, "UMLS_CUI:C1846170"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS7"@en, "X-linked intellectual disability, Ahmad type"@en, "mental retardation, X-linked syndromic 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060808"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060809 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300534"^^xsd:string, "ORDO:85279"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCJ"@en, "MRXSJ"@en, "mental retardation, X-linked, syndromic, Claes-Jensen type"@en, "syndromic X-linked intellectual disability due to JARID1C mutation"@en, "syndromic X-linked mental retardation JARID1C-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060809"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Claes-Jensen type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060810 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.5"^^xsd:string, "OMIM:300438"^^xsd:string, "ORDO:85295"^^xsd:string ; oboInOwl:hasExactSynonym "HSD10 deficiency, atypical type"@en, "HSD10 disease, atypical type"@en, "MRXS10"@en, "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"@en, "mental retardation, X-linked syndromic 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060810"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060811 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060829"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:309590"^^xsd:string, "ORDO:3056"^^xsd:string, "ORDO:85328"^^xsd:string ; oboInOwl:hasExactSynonym "Brooks-Wisniewski-Brown syndrome"@en, "MRXST"@en, "X-linked intellectual disability, Brooks type"@en, "mental retardation and macrocephaly syndrome"@en, "mental retardation, X-linked syndromic, Turner type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060811"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Turner type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060812 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537333"^^xsd:string, "OMIM:300263"^^xsd:string, "ORDO:85287"^^xsd:string, "UMLS_CUI:C1846055"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSSD"@en, "Siderius X-linked mental retardation syndrome"@en, "Siderius-Hamel syndrome"@en, "mental retardation syndrome, X-linked, Siderius type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060812"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Siderius type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060813 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300709"^^xsd:string, "ORDO:85324"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS9"@en, "mental retardation, X-linked, syndromic 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060813"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Shrimpton type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060814 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12."^^xsd:string ; oboInOwl:hasDbXref "GARD:5579"^^xsd:string, "OMIM:309585"^^xsd:string, "ORDO:3459"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS6"@en, "WTS"@en, "X-linked intellectual disability-gynecomastia-obesity syndrome"@en, "mental retardation, X-linked, syndromic 6"@en, "mental retardation, X-linked, with gynecomastia and obesity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060814"^^xsd:string ; a owl:Class ; rdfs:label "Wilson-Turner syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060815 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537472"^^xsd:string, "OMIM:314580"^^xsd:string, "ORDO:85283"^^xsd:string, "UMLS_CUI:C1839735"^^xsd:string ; oboInOwl:hasExactSynonym "MCS"@en, "MRXS4"@en, "X-linked intellectual disability, Miles-Carpenter type"@en, "mental retardation, X-linked, syndromic 4"@en, "mental retardation, X-linked, with congenital contractures and low fingertip arches"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060815"^^xsd:string ; a owl:Class ; rdfs:label "Miles-Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060816 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300472"^^xsd:string, "ORDO:52055"^^xsd:string ; oboInOwl:hasExactSynonym "Graham-Cox syndrome"@en, "MRXS28"@en, "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"@en, "mental retardation, X-linked, syndromic 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060816"^^xsd:string ; a owl:Class ; rdfs:label "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060817 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300967"^^xsd:string, "ORDO:466791"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS34"@en, "MRXSML"@en, "macrocephaly-intellectual disability-left ventricular non compaction syndrome"@en, "mental retardation, X-linked, syndromic 34"@en, "syndromic X-linked mental retardation Mircsof-Langouet type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060817"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060818 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535556"^^xsd:string, "OMIM:300262"^^xsd:string, "ORDO:85273"^^xsd:string, "UMLS_CUI:C1846056"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSAB"@en, "mental retardation, X-linked syndromic, Abidi type"@en, "syndromic X-linked mental retardation Abidi type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060818"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Abidi type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060819 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300861"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCS"@en, "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance"@en, "mental retardation, X-linked, syndromic, Chudley-Schwartz type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060819"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Chudley-Schwartz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0060820 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300860"^^xsd:string, "ORDO:163956"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability-nail dystrophy-seizures syndrome"@en, "mental retardation, X-linked syndromic, Nascimento-type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060820"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Nascimento type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060821 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537724"^^xsd:string, "OMIM:300676"^^xsd:string, "ORDO:323"^^xsd:string, "ORDO:776"^^xsd:string, "SNOMEDCT_US_2021_03_01:422437002"^^xsd:string, "UMLS_CUI:C0796022"^^xsd:string ; oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060821"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060822 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:13244"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:300354"^^xsd:string, "ORDO:85293"^^xsd:string ; oboInOwl:hasExactSynonym "Cabezas syndrome; syndromic X-linked mental retardation 15"@en, "MRSS"@en, "MRXS15"@en, "MRXSC"@en, "X-linked mental retardation with short stature"@en, "X-linked mental retardation with short stature, hypogonadism, and abnormal gait"@en, "mental retardation, X-linked, syndromic 15"@en, "mental retardation, X-linked, syndromic 15 (Cabezas type)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060822"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Cabezas type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060823 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F72"^^xsd:string, "OMIM:300699"^^xsd:string, "ORDO:364028"^^xsd:string ; oboInOwl:hasExactSynonym "MRX94"@en, "MRXS29"@en, "mental retardation, X-linked 94"@en, "syndromic X-linked intellectual disability due to GRIA3 anomalies"@en, "syndromic X-linked mental retardation 29"@en, "syndromic X-linked mental retardation Wu type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060823"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 94"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060824 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300799"^^xsd:string, "ORDO:163953"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSR"@en, "X-linked syndromic intellectual developmental disorder Raymond type"^^xsd:string, "mental retardation, X-linked syndromic, Raymond type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060824"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Raymond type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060825 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10572"^^xsd:string, "MESH:C537450"^^xsd:string, "OMIM:300243"^^xsd:string, "ORDO:85278"^^xsd:string, "UMLS_CUI:C1846130"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCH"@en, "X-linked Angelman-like syndrome"@en, "X-linked intellectual disability, South African type"@en, "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome"@en, "mental retardation, X-linked syndromic, Christianson type"@en, "mental retardation, microcephaly, epilepsy, and ataxia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060825"^^xsd:string ; a owl:Class ; rdfs:label "Christianson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] ; skos:broadMatch "MESH:C567484"^^xsd:string ; skos:exactMatch "MESH:C537450"^^xsd:string . obo:DOID_0060826 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300238"^^xsd:string, "ORDO:85286"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS11"@en, "SMRXS"@en, "Shashi X-linked mental retardation syndrome"@en, "X-linked mental retardation Shashi type"@en, "mental retardation, X-linked, syndromic 11, Shashi type"@en, "syndromic X-linked intellectual disability type 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060826"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Shashi type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060827 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F71.1"^^xsd:string, "OMIM:300055"^^xsd:string, "ORDO:3077"^^xsd:string ; oboInOwl:hasExactSynonym "Lindsay-Burn syndrome"@en, "MRXS13"@en, "PPM-X"@en, "X-linked mental retardation 79"@en, "X-linked mental retardation with spasticity"@en, "mental retardation with psychosis, pyramidal signs, and macroorchidism"@en, "mental retardation, X-linked, syndromic 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060827"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-psychosis-macroorchidism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060828 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300886"^^xsd:string, "ORDO:324410"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS32"@en, "mental retardation, X-linked, syndromic 32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060828"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0060829 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060829"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Brooks-Wisniewski-Brown syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0060830 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300519"^^xsd:string, "ORDO:85321"^^xsd:string ; oboInOwl:hasExactSynonym "Martin-Probst syndrome"@en, "mental retardation, X-linked, syndromic, Martin-Probst type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060830"^^xsd:string ; a owl:Class ; rdfs:label "deafness-intellectual disability, Martin-Probst type syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060831 obo:IAO_0000115 "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:10913"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "OMIM:PS214450"^^xsd:string, "ORDO:381"^^xsd:string ; oboInOwl:hasExactSynonym "Chediak-Higashi-like syndrome"@en, "Griscelli-Prunieras syndrome"@en, "partial albinism-immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060831"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_16, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060832 obo:IAO_0000115 "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2566"^^xsd:string, "MESH:C537301"^^xsd:string, "OMIM:214450"^^xsd:string, "ORDO:79476"^^xsd:string, "UMLS_CUI:C1859194"^^xsd:string ; oboInOwl:hasExactSynonym "GS1"@en, "Griscelli syndrome with neurological impairment"@en, "Griscelli syndrome, cutaneous and neurological type"@en, "Griscelli-Prunieras syndrome type 1"@en, "hypopigmentation-neurologic impairment syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060832"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060833 obo:IAO_0000115 "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4483"^^xsd:string, "MESH:C537302"^^xsd:string, "NCI:C111814"^^xsd:string, "OMIM:607624"^^xsd:string, "ORDO:79477"^^xsd:string, "UMLS_CUI:C1868679"^^xsd:string ; oboInOwl:hasExactSynonym "GS2"@en, "Griscelli syndrome with hemophagocytic syndrome"@en, "Griscelli-Prunieras syndrome type 2"@en, "PAID syndrome"@en, "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"@en, "partial albinism and immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060833"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Griscelli syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060834 obo:IAO_0000115 "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9715"^^xsd:string, "MESH:C537303"^^xsd:string, "OMIM:609227"^^xsd:string, "ORDO:79478"^^xsd:string, "UMLS_CUI:C1836573"^^xsd:string ; oboInOwl:hasExactSynonym "GS3"@en, "Griscelli-Prunieras syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060834"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060835 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613517"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP6"@en, "posterior nonsyndromic microphthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060835"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060836 obo:IAO_0000115 "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613094"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060836"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060837 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q15.8"^^xsd:string, "OMIM:611040"^^xsd:string, "ORDO:251279"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP5"@en, "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"@en, "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060837"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060838 obo:IAO_0000115 "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613704"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060838"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060839 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:610093"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060839"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060840 obo:IAO_0000115 "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:251600"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060840"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060841 obo:IAO_0000115 "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:615113"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060841"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060842 obo:IAO_0000115 "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:611038"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060842"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060843 obo:IAO_0000115 "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536965"^^xsd:string, "OMIM:162500"^^xsd:string, "ORDO:640"^^xsd:string, "SNOMEDCT_US_2021_03_01:230558006"^^xsd:string, "UMLS_CUI:C0393814"^^xsd:string ; oboInOwl:hasExactSynonym "HNPP"@en, "current pressure-sensitive neuropathy"@en, "familial recurrent polyneuropathy"@en, "heterozygous microdeletion 17p11.2p12"@en, "potato-grubbing palsy"@en, "tomaculous neuropathy"@en, "tulip-bulb digger's palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060843"^^xsd:string ; a owl:Class ; rdfs:label "hereditary neuropathy with liability to pressure palsies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0060844 obo:IAO_0000115 "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:7224"^^xsd:string, "MESH:C537849"^^xsd:string, "NCI:C118634"^^xsd:string, "OMIM:310600"^^xsd:string, "ORDO:649"^^xsd:string, "SNOMEDCT_US_2021_03_01:15228007"^^xsd:string, "UMLS_CUI:C0266526"^^xsd:string ; oboInOwl:hasExactSynonym "Episkopi blindness"@en, "Norrie-Warburg disease"@en, "atrophia bulborum hereditaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Norrie disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060847 obo:IAO_0000115 "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."^^xsd:string ; oboInOwl:hasDbXref "GARD:3224"^^xsd:string, "MESH:C537119"^^xsd:string, "NCI:C126560"^^xsd:string, "OMIM:127300"^^xsd:string, "ORDO:240"^^xsd:string, "SNOMEDCT_US_2021_03_01:17818006"^^xsd:string, "UMLS_CUI:C0265309"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060847"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Leri-Weill dyschondrosteosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060848 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10806"^^xsd:string, "OMIM:300088"^^xsd:string, "ORDO:101039"^^xsd:string ; oboInOwl:hasExactSynonym "DEE9"^^xsd:string, "EFMR"@en, "EIEE9"@en, "Juberg Hellman syndrome"@en, "early infantile epileptic encephalopathy 9"^^xsd:string, "early infantile female-limited epilecptic encephalopathy"@en, "female restricted epilepsy with mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060848"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060849 obo:IAO_0000115 "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4160"^^xsd:string, "MESH:C536063"^^xsd:string, "NCI:C130998"^^xsd:string, "OMIM:259770"^^xsd:string, "ORDO:2788"^^xsd:string, "SNOMEDCT_US_2021_03_01:254112001"^^xsd:string, "UMLS_CUI:C0432252"^^xsd:string ; oboInOwl:hasExactSynonym "OPPG"@en, "ocular form of osteogenesis imperfecta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteoporosis-pseudoglioma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060850 obo:IAO_0000115 "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:705"^^xsd:string, "ICD10CM:Q45.1"^^xsd:string, "MESH:C536376"^^xsd:string, "NCI:C98813"^^xsd:string, "OMIM:167750"^^xsd:string, "ORDO:675"^^xsd:string, "SNOMEDCT_US_2021_03_01:40315008"^^xsd:string, "UMLS_CUI:C0149955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060850"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "annular pancreas"^^xsd:string ; rdfs:subClassOf obo:DOID_26 . obo:DOID_0060851 obo:IAO_0000115 "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance."^^xsd:string ; oboInOwl:hasDbXref "GARD:7355"^^xsd:string, "ICD10CM:L10.0"^^xsd:string, "MESH:D010392"^^xsd:string, "NCI:C34910"^^xsd:string, "OMIM:169610"^^xsd:string, "ORDO:704"^^xsd:string, "SNOMEDCT_US_2021_03_01:49420001"^^xsd:string, "UMLS_CUI:C0030809"^^xsd:string ; oboInOwl:hasExactSynonym "familial pemphigus vulgaris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060851"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pemphigus vulgaris"^^xsd:string ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0060852 obo:IAO_0000115 "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9420"^^xsd:string, "MESH:C537185"^^xsd:string, "NCI:C128145"^^xsd:string, "OMIM:609049"^^xsd:string, "ORDO:2670"^^xsd:string, "SNOMEDCT_US_2021_03_01:723449004"^^xsd:string, "UMLS_CUI:C1836876"^^xsd:string ; oboInOwl:hasExactSynonym "microcoria-congenital nephrosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pierson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060853 obo:IAO_0000115 "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10145"^^xsd:string, "MESH:C538355"^^xsd:string, "NCI:C124846"^^xsd:string, "OMIM:610883"^^xsd:string, "ORDO:1713"^^xsd:string, "SNOMEDCT_US_2021_03_01:734016004"^^xsd:string, "UMLS_CUI:C2931246"^^xsd:string ; oboInOwl:hasExactSynonym "17p11.2 microduplication syndrome"@en, "chromosome 17p11.2 duplication syndrome"@en, "trisomy 17p11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060853"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Potocki-Lupski syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060854 obo:IAO_0000115 "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G."^^xsd:string ; oboInOwl:hasDbXref "GARD:4552"^^xsd:string, "MESH:D011546"^^xsd:string, "NCI:C123251"^^xsd:string, "OMIM:264350"^^xsd:string, "ORDO:171876"^^xsd:string, "ORDO:756"^^xsd:string, "SNOMEDCT_US_2021_03_01:43941006"^^xsd:string, "UMLS_CUI:C0268436"^^xsd:string ; oboInOwl:hasExactSynonym "PHA1B"@en, "autosomal recessive PHA 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060854"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive pseudohypoaldosteronism type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4479, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060855 obo:IAO_0000115 "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:9145"^^xsd:string, "MESH:D011546"^^xsd:string, "OMIM:177735"^^xsd:string, "ORDO:756"^^xsd:string, "UMLS_CUI:C1449843"^^xsd:string ; oboInOwl:hasExactSynonym "PHA1A"@en, "autosomal dominant PHA 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060855"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant pseudohypoaldosteronism type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4479, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060856 obo:IAO_0000115 "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.6"^^xsd:string, "OMIM:208530"^^xsd:string, "ORDO:97548"^^xsd:string ; oboInOwl:hasExactSynonym "Ivemark syndrome"@en, "asplenia with cardiovascular anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060856"^^xsd:string ; a owl:Class ; rdfs:label "right atrial isomerism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050545, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060857 obo:IAO_0000115 "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:7627"^^xsd:string, "MESH:D025962"^^xsd:string, "NCI:C85063"^^xsd:string, "OMIM:182230"^^xsd:string, "ORDO:3157"^^xsd:string, "SNOMEDCT_US_2021_03_01:204073006"^^xsd:string, "UMLS_CUI:C0338503"^^xsd:string ; oboInOwl:hasExactSynonym "De Morsier syndrome"@en, "SOD"@en, "septo-optic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060857"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "septooptic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0060858 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.0"^^xsd:string, "OMIM:606407"^^xsd:string, "ORDO:163690"^^xsd:string ; oboInOwl:hasExactSynonym "cystinuria with mitochondrial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060858"^^xsd:string ; a owl:Class ; rdfs:label "hypotonia-cystinuria syndrome"@en ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060859 obo:IAO_0000115 "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A02.0"^^xsd:string, "ICD9CM:003.0"^^xsd:string ; oboInOwl:hasExactSynonym "Salmonella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060859"^^xsd:string ; a owl:Class ; rdfs:label "salmonellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0060861 obo:IAO_0000115 "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "OMIM:206920"^^xsd:string, "ORDO:1106"^^xsd:string ; oboInOwl:hasExactSynonym "MLA"@en, "OAS"@en, "Waardenburg anophthalmia syndrome"@en, "anophthalmia-syndactyly syndrome"@en, "ophthalmoacromelic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060861"^^xsd:string ; a owl:Class ; rdfs:label "microphthalmia with limb anomalies"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060862 obo:IAO_0000115 "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:248300"^^xsd:string, "ORDO:87503"^^xsd:string ; oboInOwl:hasExactSynonym "Meleda disease"@en, "keratosis palmoplantaris transgrediens of Siemens"@en, "transgrediens palmoplantar keratoderma of Siemens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060862"^^xsd:string ; a owl:Class ; rdfs:label "mal de Meleda"@en ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0060863 obo:IAO_0000115 "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:PS169150"^^xsd:string, "ORDO:99001"^^xsd:string ; oboInOwl:hasExactSynonym "patterned dystrophy of retinal pigment epithelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060863"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0060864 obo:IAO_0000115 "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608970"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT2"@en, "butterfly-shaped pigmentary maculary dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060864"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060865 obo:IAO_0000115 "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617111"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT3"@en, "Martinique crinkled retinal pigment epitheliopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060865"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060866 obo:IAO_0000115 "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:169150"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT1"@en, "butterfly-shaped pigmentary maculary dystrophy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060866"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060867 obo:IAO_0000115 "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605309"^^xsd:string, "ORDO:210548"^^xsd:string ; oboInOwl:hasExactSynonym "macrocephaly-intellectual disability-autism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060867"^^xsd:string ; a owl:Class ; rdfs:label "macrocephaly-autism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060868 obo:IAO_0000115 "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:231"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:603896"^^xsd:string, "ORDO:135"^^xsd:string ; oboInOwl:hasExactSynonym "CACH"@en, "Cree leukoencephalopathy"@en, "childhood ataxia with central nervous system hypomyelination"@en, "vanishing white matter leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060868"^^xsd:string ; a owl:Class ; rdfs:label "leukoencephalopathy with vanishing white matter"^^xsd:string ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0060869 obo:IAO_0000115 "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4357"^^xsd:string, "OMIM:605670"^^xsd:string, "ORDO:67042"^^xsd:string ; oboInOwl:hasExactSynonym "LORD"@en, "autosomal dominant late-onset retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060869"^^xsd:string ; a owl:Class ; rdfs:label "late-onset retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_0060870 obo:IAO_0000115 "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones."^^xsd:string ; oboInOwl:hasDbXref "GARD:12556"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "ICD9CM:253.3"^^xsd:string, "MESH:D004393"^^xsd:string, "NCI:C34555"^^xsd:string, "ORDO:631"^^xsd:string, "SNOMEDCT_US_2021_03_01:270485009"^^xsd:string, "UMLS_CUI:C0013338"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD"@en, "congenital IGHD"@en, "congenital isolated GH deficiency"@en, "congenital isolated growth hormone deficiency"@en, "familial isolated growth hormone deficiency"@en, "non-acquired isolated growth hormone deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "isolated growth hormone deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_0060871 obo:IAO_0000115 "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:148210"^^xsd:string, "ORDO:477"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant KID syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060871"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratitis-ichthyosis-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060872 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:173100"^^xsd:string, "ORDO:231679"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD II"@en, "autosomal dominant isolated growth hormone deficiency"@en, "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency"@en, "congenital IGHD type II"@en, "congenital isolated GH deficiency type II"@en, "congenital isolated growth hormone deficiency type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060872"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060873 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:262400"^^xsd:string, "ORDO:231662"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD IA"@en, "Illig-type growth hormone deficiency"@en, "autosomal recessive isolated growth hormone deficiency"@en, "pituitary dwarfism I"@en, "primordial dwarfism"@en, "sexual ateleiotic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060873"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060874 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612781"^^xsd:string, "ORDO:231671"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD IB"@en, "congenital IGHD type IB"@en, "congenital isolated GH deficiency type IB"@en, "congenital isolated growth hormone deficiency type IB"@en, "dwarfism of Sindh"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060874"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060875 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3921"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "OMIM:307200"^^xsd:string, "ORDO:231692"^^xsd:string ; oboInOwl:hasExactSynonym "Fleisher syndrome"@en, "IGHD III"@en, "X-linked IGHD"@en, "X-linked agammaglobulinemia and isolated growth hormone deficiency"@en, "X-linked hypogammaglobulinemia and isolated growth hormone deficiency"@en, "X-linked isolated growth hormone deficiency"@en, "congenital IGHD type III"@en, "congenital isolated GH deficiency type III"@en, "congenital isolated growth hormone deficiency type III"@en, "growth hormone deficiency with hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060875"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060877 obo:IAO_0000115 "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2966"^^xsd:string, "MESH:D053560"^^xsd:string, "NCI:C84777"^^xsd:string, "OMIM:146800"^^xsd:string, "ORDO:455"^^xsd:string, "SNOMEDCT_US_2021_03_01:254169002"^^xsd:string, "UMLS_CUI:C0432306"^^xsd:string ; oboInOwl:hasExactSynonym "bullous type ichthyosis"@en, "ichthyosis bullosa of Siemens"@en, "superficial epidermolytic ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060877"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bullous congenital ichthyosiform erythroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060878 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537907"^^xsd:string, "NCI:C130983"^^xsd:string, "OMIM:146255"^^xsd:string, "ORDO:2237"^^xsd:string, "SNOMEDCT_US_2021_03_01:724282009"^^xsd:string, "UMLS_CUI:C1840333"^^xsd:string ; oboInOwl:hasExactSynonym "Barakat syndrome"@en, "HDR syndrome"@en, "hypoparathyroidism, sensorineural deafness, and renal disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060878"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoparathyroidism-deafness-renal disease syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060879 obo:IAO_0000115 "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:PS602014"^^xsd:string, "ORDO:34526"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG"@en, "primary familial hypomagnesemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060879"^^xsd:string ; a owl:Class ; rdfs:label "primary hypomagnesemia"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0060880 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:248250"^^xsd:string, "ORDO:31043"^^xsd:string ; oboInOwl:hasExactSynonym "FHHNC without severe ocular involvement"@en, "HOMG3"@en, "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"@en, "isolated renal hypomagnesemia"@en, "primary hypomagnesemia due to defect in renal tubular transport of magnesium"@en, "renal hypomagnesemia type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060880"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060881 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536148"^^xsd:string, "OMIM:248190"^^xsd:string, "ORDO:2196"^^xsd:string, "UMLS_CUI:C2931121"^^xsd:string ; oboInOwl:hasExactSynonym "FHHNC with severe ocular involvement"@en, "Meier-Blumberg-Imahorn syndrome"@en, "bilateral macular coloboma with hypercalciuria"@en, "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement"@en, "hypercalciuria-bilateral macular coloboma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060881"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 5 with ocular involvement"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060882 obo:IAO_0000115 "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:611718"^^xsd:string, "ORDO:34527"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060882"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060883 obo:IAO_0000115 "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:602014"^^xsd:string, "ORDO:30924"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG1"@en, "hypomagnesemia caused by selective magnesium malabsorption"@en, "hypomagnesemia intestinal type 1"@en, "hypomagnesemic tetany"@en, "intestinal hypomagnesemia with secondary hypocalcemia"@en, "primary hypomagnesemia with secondary hypocalcemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060883"^^xsd:string ; a owl:Class ; rdfs:label "intestinal hypomagnesemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060884 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:12155"^^xsd:string, "ICD10CM:E83.4"^^xsd:string, "OMIM:613882"^^xsd:string, "ORDO:34527"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060884"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060885 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3350"^^xsd:string, "ICD10CM:E83.4"^^xsd:string, "OMIM:154020"^^xsd:string, "ORDO:34528"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG2"@en, "autosomal dominant primary hypomagnesemia with hypocalciuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060885"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060886 obo:IAO_0000115 "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536053"^^xsd:string, "OMIM:300373"^^xsd:string, "ORDO:2780"^^xsd:string, "SNOMEDCT_US_2021_03_01:254129003"^^xsd:string, "UMLS_CUI:C0432268"^^xsd:string ; oboInOwl:hasExactSynonym "Robinow-Unger syndrome"@en, "hyperostosis generalisata with striations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060886"^^xsd:string ; a owl:Class ; rdfs:label "osteopathia striata with cranial sclerosis"@en ; rdfs:subClassOf obo:DOID_4254 . obo:DOID_0060887 obo:IAO_0000115 "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia."^^xsd:string ; oboInOwl:hasDbXref "GARD:9699"^^xsd:string, "OMIM:602475"^^xsd:string ; oboInOwl:hasExactSynonym "OPLL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060887"^^xsd:string ; a owl:Class ; rdfs:label "ossification of the posterior longitudinal ligament of spine"@en ; rdfs:subClassOf obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060888 obo:IAO_0000115 "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:12765"^^xsd:string, "ICD10CM:D47.7"^^xsd:string, "OMIM:159595"^^xsd:string, "ORDO:420611"^^xsd:string ; oboInOwl:hasExactSynonym "MST"@en, "TAM"@en, "transient abnormal myelopoiesis"@en, "transient leukemia"@en, "transient leukemia of Down syndrome"@en, "transient myeloproliferative disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060888"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "transient myeloproliferative syndrome"@en ; rdfs:subClassOf obo:DOID_2226 . obo:DOID_0060889 obo:IAO_0000115 "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:7479"^^xsd:string, "ICD10CM:Q79.4"^^xsd:string, "MESH:D011535"^^xsd:string, "OMIM:100100"^^xsd:string, "ORDO:2970"^^xsd:string ; oboInOwl:hasExactSynonym "Eagle-Barret syndrome"@en, "Obrisnksy syndrome"@en, "abdominal muscle deficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060889"^^xsd:string ; a owl:Class ; rdfs:label "prune belly syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060890 obo:IAO_0000115 "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E24.3"^^xsd:string, "ORDO:99889"^^xsd:string ; oboInOwl:hasExactSynonym "Cushing syndrome due to ectopic ACTH secretion"@en, "ectopic ACTH secreting tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060890"^^xsd:string ; a owl:Class ; rdfs:label "ectopic Cushing syndrome"@en ; rdfs:subClassOf obo:DOID_446 . obo:DOID_0060891 obo:IAO_0000115 "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:615528"^^xsd:string, "ORDO:391411"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile onset Parkinson disease 19A"@en, "juvenile onset Parkinson's disease 19A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060891"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 19A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060892 obo:IAO_0000115 "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age."^^xsd:string ; oboInOwl:hasDbXref "OMIM:168600"^^xsd:string, "ORDO:411602"^^xsd:string ; oboInOwl:hasExactSynonym "late onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060892"^^xsd:string ; a owl:Class ; rdfs:label "late onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_14330 . obo:DOID_0060893 obo:IAO_0000115 "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age."^^xsd:string ; oboInOwl:hasExactSynonym "juvenile-onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060893"^^xsd:string ; a owl:Class ; rdfs:label "juvenile-onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060894 obo:IAO_0000115 "A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age."^^xsd:string ; oboInOwl:hasDbXref "ORDO:391411"^^xsd:string ; oboInOwl:hasExactSynonym "early-onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060894"^^xsd:string ; a owl:Class ; rdfs:label "early-onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_14330 . obo:DOID_0060895 obo:IAO_0000115 "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:605543"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Lewy body Parkinson disease 4"@en, "autosomal dominant Parkinson disease 4"@en, "autosomal dominant Parkinson's disease 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060895"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060896 obo:IAO_0000115 "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:616840"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 23"@en, "autosomal recessive early-onset Parkinson's disease 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060896"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 23"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060897 obo:IAO_0000115 "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614203"^^xsd:string ; oboInOwl:hasExactSynonym "Parkinson disease 17"@en, "autosomal dominant Parkinson disease 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060897"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 17"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060898 obo:IAO_0000115 "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615530"^^xsd:string ; oboInOwl:hasExactSynonym "early-onset Parkinson disease 20"@en, "early-onset Parkinson's disease 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060898"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 20"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060900 obo:IAO_0000115 "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567844"^^xsd:string, "OMIM:612953"^^xsd:string ; oboInOwl:hasExactSynonym "Dystonia-Parkinsonism Adult-Onset"@en, "autosomal recessive Parkinson disease 14"@en, "autosomal recessive Parkinson's disease 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060900"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060901 obo:IAO_0000115 "A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein."^^xsd:string ; oboInOwl:hasDbXref "GARD:7872"^^xsd:string, "ICD10CM:C88.0"^^xsd:string, "ICD9CM:273.3"^^xsd:string, "MESH:D008258"^^xsd:string, "NCI:C115212"^^xsd:string, "NCI:C80307"^^xsd:string, "OMIM:153600"^^xsd:string, "OMIM:610430"^^xsd:string, "ORDO:33226"^^xsd:string, "SNOMEDCT_US_2021_03_01:35562000"^^xsd:string, "UMLS_CUI:C0024419"^^xsd:string, "UMLS_CUI:C2936755"^^xsd:string ; oboInOwl:hasExactSynonym "Waldenstrom Macroglobulinemia"^^xsd:string, "lymphoplasmacytic lymphoma with IgM gammopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060901"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Waldenstroem's macroglobulinemia"@en ; rdfs:subClassOf obo:DOID_0050747 ; skos:exactMatch "MESH:D008258"^^xsd:string . obo:DOID_0060902 obo:IAO_0000115 "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537848"^^xsd:string, "OMIM:257320"^^xsd:string, "ORDO:89844"^^xsd:string, "SNOMEDCT_US_2021_03_01:717977003"^^xsd:string, "UMLS_CUI:C0796089"^^xsd:string ; oboInOwl:hasExactSynonym "lissencephaly 2"@en, "lissencephaly syndrome, Norman-Roberts type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060902"^^xsd:string ; a owl:Class ; rdfs:label "Norman-Roberts syndrome"@en ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060903 obo:IAO_0000115 "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013927"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060903"^^xsd:string ; a owl:Class ; rdfs:label "thrombosis"@en ; rdfs:subClassOf obo:DOID_178 . obo:DOID_0060904 obo:IAO_0000115 "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product."^^xsd:string ; oboInOwl:hasExactSynonym "Fabaceae allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060904"^^xsd:string ; a owl:Class ; rdfs:label "legume allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001264 ] . obo:DOID_0060911 obo:IAO_0000115 "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:11003"^^xsd:string, "ICD10CM:N11.8"^^xsd:string, "OMIM:614817"^^xsd:string, "ORDO:401996"^^xsd:string ; oboInOwl:hasExactSynonym "KIN"@en, "KMIN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060911"^^xsd:string ; a owl:Class ; rdfs:label "karyomegalic interstitial nephritis"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1063, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070000 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617248"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type VIII, MGCA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070000"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070001 obo:IAO_0000115 "A disease of cellular proliferation that results in an abnormal mass of tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neoplastic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0070002 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617698"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic acuduria type IX, MGCA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070002"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070003 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070003"^^xsd:string ; a owl:Class ; rdfs:label "blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000055 ] ) ] . obo:DOID_0070004 obo:IAO_0000115 "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages."^^xsd:string ; oboInOwl:hasExactSynonym "myeloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070004"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myeloid neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4960 . obo:DOID_0070005 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616777"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070005"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070006 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614728"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070006"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070007 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210600"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL1"@en, "microcephalic primordial dwarfism I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070007"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070008 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617253"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070008"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070009 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615807"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070009"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070010 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613676"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070010"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070011 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614851"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070011"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070012 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613823"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070012"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070013 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606744"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL2"@en, "Seckel-type dwarfism 2"@en, "microcephalic primordial dwarfism 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070013"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070014 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:127550"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA1"@en, "Dyskeratosis Congenita, Scoggins Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070014"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070015 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA3 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224230"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070015"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070016 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613989"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070016"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070017 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613987"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070017"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070018 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613990"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070018"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070019 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613988"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070019"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070020 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasExactSynonym "DKCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070020"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070021 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasExactSynonym "DKCB4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070021"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070022 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615190"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070022"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070023 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616553"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070023"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070024 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616353"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070024"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070025 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305000"^^xsd:string ; oboInOwl:hasExactSynonym "DKCX"@en, "Zinsser-Cole-Engman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070025"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dyskeratosis congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070026 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4695"^^xsd:string, "OMIM:268130"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA5"@en, "Dyskeratosis Congenita, Autosomal Dominant 5"@en, "exudative retinopathy with bone marrow failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070026"^^xsd:string ; a owl:Class ; rdfs:label "Revesz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070027 obo:IAO_0000115 "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105150"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis VI"@en, "Amyloidosis, Cerebroarterial, Icelandic Type"@en, "Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant"@en, "HCHWA"@en, "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070027"^^xsd:string ; a owl:Class ; rdfs:label "CST3-related cerebral amyloid angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070028 obo:IAO_0000115 "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605714"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis, Cerebroarterial, App-Related"@en, "Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Arctic Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Italian Variant"@en, "HCHWAD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070028"^^xsd:string ; a owl:Class ; rdfs:label "APP-related cerebral amyloid angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070029 obo:IAO_0000115 "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8344"^^xsd:string, "OMIM:176500"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral Amyloid Angiopathy, British Type"@en, "FBD"@en, "Familial British Dementia"@en, "Presenile Dementia with Spastic Ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070029"^^xsd:string ; a owl:Class ; rdfs:label "ITM2B-related cerebral amyloid angiopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070030 obo:IAO_0000115 "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:117300"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis"@en, "FDD"@en, "Familial Danish Dementia"@en, "HOOE"@en, "Heredopathia Ophthalmootoencephalica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070030"^^xsd:string ; a owl:Class ; rdfs:label "ITM2B-related cerebral amyloid angiopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070031 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156200"^^xsd:string ; oboInOwl:hasExactSynonym "MRD1"@en, "autosomal dominant mental retardation 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070031"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070032 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DOCK8 on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614113"^^xsd:string ; oboInOwl:hasExactSynonym "MRD2"@en, "autosomal dominant mental retardation 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070032"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070033 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612580"^^xsd:string ; oboInOwl:hasExactSynonym "MRD3"@en, "autosomal dominant mental retardation 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070033"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070034 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612581"^^xsd:string ; oboInOwl:hasExactSynonym "MRD4"@en, "autosomal dominant mental retardation 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070034"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070035 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SYNGAP1 on chromosome 6p21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612621"^^xsd:string ; oboInOwl:hasExactSynonym "MRD5"@en, "autosomal dominant mental retardation 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070035"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070036 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613970"^^xsd:string ; oboInOwl:hasExactSynonym "MRD6"@en, "autosomal dominant mental retardation 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070036"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070037 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614104"^^xsd:string ; oboInOwl:hasExactSynonym "MRD7"@en, "autosomal dominant mental retardation 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070037"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070038 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614254"^^xsd:string ; oboInOwl:hasExactSynonym "MRD8"@en, "autosomal dominant mental retardation 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070038"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070039 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "NCI:C133742"^^xsd:string, "OMIM:614255"^^xsd:string, "UMLS_CUI:C3280283"^^xsd:string ; oboInOwl:hasExactSynonym "MRD9"@en, "NESCAVS"^^xsd:string, "autosomal dominant intellectual disability 9"^^xsd:string, "autosomal dominant mental retardation 9"@en, "autosomal dominant non-syndromic intellectual disability 9"^^xsd:string, "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070039"^^xsd:string ; a owl:Class ; rdfs:label "NESCAV syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070040 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614256"^^xsd:string ; oboInOwl:hasExactSynonym "MRD10"@en, "autosomal dominant mental retardation 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070040"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070041 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614257"^^xsd:string ; oboInOwl:hasExactSynonym "MRD11"@en, "autosomal dominant mental retardation 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070041"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070042 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:135900"^^xsd:string ; oboInOwl:hasExactSynonym "CSS1"@en, "MRD12"@en, "autosomal dominant mental retardation 12"@en, "fifth digit syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070042"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070043 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614563"^^xsd:string ; oboInOwl:hasExactSynonym "MRD13"@en, "autosomal dominant mental retardation 13"@en, "mental retardation, autosomal dominant 13, with neuronal migration defects"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070043"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070044 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614607"^^xsd:string ; oboInOwl:hasExactSynonym "CSS2"@en, "MRD14"@en, "autosomal dominant mental retardation 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070044"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070045 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614608"^^xsd:string ; oboInOwl:hasExactSynonym "CSS3"@en, "MRD15"@en, "autosomal dominant mental retardation 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070045"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070046 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614609"^^xsd:string ; oboInOwl:hasExactSynonym "CSS4"@en, "MRD16"@en, "autosomal dominant mental retardation 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070046"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070047 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615009"^^xsd:string ; oboInOwl:hasExactSynonym "MRD17"@en, "SHMS"@en, "autosomal dominant mental retardation 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070047"^^xsd:string ; a owl:Class ; rdfs:label "Schuurs-Hoeijmakers Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070048 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615074"^^xsd:string ; oboInOwl:hasExactSynonym "MRD18"@en, "autosomal dominant mental retardation 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070048"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070049 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615075"^^xsd:string ; oboInOwl:hasExactSynonym "MRD19"@en, "autosomal dominant mental retardation 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070049"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070050 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613443"^^xsd:string ; oboInOwl:hasExactSynonym "MRD20"@en, "mental retardation, autosomal dominant 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070050"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070051 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615502"^^xsd:string ; oboInOwl:hasExactSynonym "MRD21"@en, "autosomal dominant mental retardation 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070051"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070052 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZBTB18 on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612337"^^xsd:string ; oboInOwl:hasExactSynonym "MRD22"@en, "autosomal dominant mental retardation 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070052"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070053 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615761"^^xsd:string ; oboInOwl:hasExactSynonym "MRD23"@en, "autosomal dominant mental retardation 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070053"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070054 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615828"^^xsd:string ; oboInOwl:hasExactSynonym "IDDISBAS"^^xsd:string, "MRD24"@en, "VSVS"^^xsd:string, "autosomal dominant mental retardation 24"@en, "autosomal dominant non-syndromic intellectual disability 24"^^xsd:string, "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070054"^^xsd:string ; a owl:Class ; rdfs:label "Vulto-van Silfout-de Vries syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070055 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:13409"^^xsd:string, "OMIM:615829"^^xsd:string ; oboInOwl:hasExactSynonym "MRD25"@en, "autosomal dominant mental retardation 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070055"^^xsd:string ; a owl:Class ; rdfs:label "Xia-Gibbs Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070056 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615834"^^xsd:string ; oboInOwl:hasExactSynonym "MRD26"@en, "autosomal dominant mental retardation 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070056"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070057 obo:IAO_0000115 "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615866"^^xsd:string ; oboInOwl:hasExactSynonym "MRD27"@en, "autosomal dominant mental retardation 27"@en, "autosomal dominant non-syndromic intellectual disability 27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070057"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070058 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615873"^^xsd:string ; oboInOwl:hasExactSynonym "HVDAS"@en, "MRD28"@en, "autosomal dominant mental retardation 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070058"^^xsd:string ; a owl:Class ; rdfs:label "Helsmoortel-Van Der Aa Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070059 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616078"^^xsd:string ; oboInOwl:hasExactSynonym "MRD29"@en, "autosomal dominant mental retardation 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070059"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070060 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZMYND11 on chromosome 10p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616083"^^xsd:string ; oboInOwl:hasExactSynonym "MRD30"@en, "autosomal dominant mental retardation 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070060"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070061 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616158"^^xsd:string ; oboInOwl:hasExactSynonym "MRD31"@en, "autosomal dominant mental retardation 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070061"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070062 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616268"^^xsd:string, "ORDO:457193"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHS"^^xsd:string, "MRD32"@en, "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"^^xsd:string, "autosomal dominant mental retardation 32"@en, "autosomal dominant non-syndromic intellectual disability 32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070062"^^xsd:string ; a owl:Class ; rdfs:label "Arboleda-Tham syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070063 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DPP6 on chromosome 7q36.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616311"^^xsd:string ; oboInOwl:hasExactSynonym "MRD33"@en, "autosomal dominant mental retardation 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070063"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070064 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of COL4A3BP on chromosome 5q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616351"^^xsd:string ; oboInOwl:hasExactSynonym "MRD34"@en, "autosomal dominant mental retardation 34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070064"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070065 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616355"^^xsd:string ; oboInOwl:hasExactSynonym "MRD35"@en, "autosomal dominant mental retardation 35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070065"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070066 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616362"^^xsd:string ; oboInOwl:hasExactSynonym "MRD36"@en, "autosomal dominant mental retardation 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070066"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070067 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616364"^^xsd:string ; oboInOwl:hasExactSynonym "MRD37"@en, "WHSUS"@en, "autosomal dominant mental retardation 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070067"^^xsd:string ; a owl:Class ; rdfs:label "White-Sutton syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070068 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616393"^^xsd:string ; oboInOwl:hasExactSynonym "MRD38"@en, "PRELDS"@en, "autosomal dominant mental retardation 38"@en, "psychomotor retardation, epilepsy, and language disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070068"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070069 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616521"^^xsd:string ; oboInOwl:hasExactSynonym "MRD39"@en, "autosomal dominant mental retardation 39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070069"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070070 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616579"^^xsd:string ; oboInOwl:hasExactSynonym "MRD40"@en, "autosomal dominant mental retardation 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070070"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070071 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616944"^^xsd:string ; oboInOwl:hasExactSynonym "MRD41"@en, "autosomal dominant mental retardation 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070071"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070072 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GNB1 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616973"^^xsd:string ; oboInOwl:hasExactSynonym "MRD42"@en, "autosomal dominant mental retardation 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070072"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070073 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616977"^^xsd:string ; oboInOwl:hasExactSynonym "MRD43"@en, "autosomal dominant mental retardation 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070073"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070074 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TRIO on chromosome 5p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617061"^^xsd:string ; oboInOwl:hasExactSynonym "MRD44"@en, "autosomal dominant intellectual developmental disorder 44 with microcephaly"^^xsd:string, "autosomal dominant mental retardation 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070074"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070075 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Kleefstra Syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070076 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 17q21.31 deletion syndrome"@en, "microdeletion 17q21.31 syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070076"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Koolen-De Vries syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070077 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:181510"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070077"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070078 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603342"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070078"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070079 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600511"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070079"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070080 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600850"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070080"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070081 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603175"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070081"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070082 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603013"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070082"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070083 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603176"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070083"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070084 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603206"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070084"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070085 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604906"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070085"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070086 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605419"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070086"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070087 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608078"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070087"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070088 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608543"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070088"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070089 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613025"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070089"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070090 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612361"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070090"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070091 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613950"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070091"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070092 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613959"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070092"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070093 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615232"^^xsd:string ; oboInOwl:hasExactSynonym "Chromosome 7q36.3 Duplication Syndrome, 362-Kb"@en, "SCZD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070093"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070094 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203100"^^xsd:string ; oboInOwl:hasExactSynonym "OCA1A"@en, "Oculocutaneous Albinism, Tyrosinase-Negative"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070094"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070095 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606952"^^xsd:string ; oboInOwl:hasExactSynonym "Albinism, Yellow Mutant Type"@en, "OCA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070095"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070096 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4038"^^xsd:string, "OMIM:203200"^^xsd:string ; oboInOwl:hasExactSynonym "OCA2"@en, "Oculocutaneous Albinism, Tyrosinase-Positive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070096"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070097 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4039"^^xsd:string, "OMIM:203290"^^xsd:string ; oboInOwl:hasExactSynonym "OCA3"@en, "Rufous Oculocutaneous Albinism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070097"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070098 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606574"^^xsd:string ; oboInOwl:hasExactSynonym "OCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070098"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070099 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA5 on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615312"^^xsd:string ; oboInOwl:hasExactSynonym "OCA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070099"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070100 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615179"^^xsd:string ; oboInOwl:hasExactSynonym "OCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070100"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type VII"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070101 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of PTPN11 on chromosome 12q24.13."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 1"^^xsd:string ; owl:deprecated true . obo:DOID_0070102 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal recessive mutation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 2"^^xsd:string ; owl:deprecated true . obo:DOID_0070103 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 3"^^xsd:string ; owl:deprecated true . obo:DOID_0070104 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS1 on chromosome 2p22.1."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 4"^^xsd:string ; owl:deprecated true . obo:DOID_0070105 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RAF1 on chromosome 3p25.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 5"^^xsd:string ; owl:deprecated true . obo:DOID_0070106 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of NRAS on chromosome 1p13.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 6"^^xsd:string ; owl:deprecated true . obo:DOID_0070107 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of BRAF on chromosome 7q34."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 7"^^xsd:string ; owl:deprecated true . obo:DOID_0070108 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RIT1 on chromosome 1q22."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 8"^^xsd:string ; owl:deprecated true . obo:DOID_0070109 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS2 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasExactSynonym "NS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 9"^^xsd:string ; owl:deprecated true . obo:DOID_0070110 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of LZTR1 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 10"^^xsd:string ; owl:deprecated true . obo:DOID_0070111 obo:IAO_0000115 "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:7206"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:257200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070111"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type A"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070112 obo:IAO_0000115 "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:10729"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:607616"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070112"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type B"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070113 obo:IAO_0000115 "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7207"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:257220"^^xsd:string ; oboInOwl:hasExactSynonym "NPC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070113"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type C1"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070114 obo:IAO_0000115 "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3992"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:607625"^^xsd:string ; oboInOwl:hasExactSynonym "NPC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070114"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type C2"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070115 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:249000"^^xsd:string ; oboInOwl:hasExactSynonym "MKS1"@en, "Meckel-Gruber syndrome, type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070115"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070116 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:603194"^^xsd:string ; oboInOwl:hasExactSynonym "MKS2"@en, "Meckel-Gruber syndrome, type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070116"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070117 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:607361"^^xsd:string ; oboInOwl:hasExactSynonym "MKS3"@en, "Meckel-Gruber syndrome, type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070117"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070118 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:611134"^^xsd:string ; oboInOwl:hasExactSynonym "MKS4"@en, "Meckel-Gruber syndrome, type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070118"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070119 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:611561"^^xsd:string ; oboInOwl:hasExactSynonym "MKS5"@en, "Meckel-Gruber syndrome, type 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070119"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070120 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:612284"^^xsd:string ; oboInOwl:hasExactSynonym "MKS6"@en, "Meckel-Gruber syndrome, type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070120"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070121 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537756"^^xsd:string, "OMIM:267010"^^xsd:string, "ORDO:3032"^^xsd:string, "SNOMEDCT_US_2021_03_01:773737004"^^xsd:string, "UMLS_CUI:C2673885"^^xsd:string ; oboInOwl:hasExactSynonym "MKS7"@en, "Meckel-Gruber syndrome, type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070121"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070122 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:613885"^^xsd:string, "ORDO:90674"^^xsd:string ; oboInOwl:hasExactSynonym "MKS8"@en, "Meckel-Gruber syndrome, type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070122"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070123 obo:IAO_0000115 "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:275100"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG4"@en, "isolated thyrotropin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070123"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070124 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:218700"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG2"@en, "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070124"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070125 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:225250"^^xsd:string, "ORDO:90673"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070125"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070126 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:275200"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG1"@en, "TSH resistance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070126"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070127 obo:IAO_0000115 "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:609893"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070127"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070128 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:614450"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070128"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070129 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:617403"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070129"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IID"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070130 obo:IAO_0000115 "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:123700"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070130"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070131 obo:IAO_0000115 "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:616603"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070131"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070132 obo:IAO_0000115 "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219150"^^xsd:string, "ORDO:35664"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL3A"@en, "De Barsy syndrome A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070132"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070143 . obo:DOID_0070133 obo:IAO_0000115 "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614437"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070133"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070134 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219200"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070134"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070135 obo:IAO_0000115 "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219100"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070135"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070136 obo:IAO_0000115 "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614434"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070136"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070137 obo:IAO_0000115 "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:612940"^^xsd:string, "ORDO:357064"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2, progeroid type"@en, "ARCL2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070137"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070138 obo:IAO_0000115 "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614438"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL3B"@en, "De Barsy syndrome B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070138"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0070143 . obo:DOID_0070139 obo:IAO_0000115 "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567716"^^xsd:string, "OMIM:613177"^^xsd:string, "ORDO:221145"^^xsd:string, "SNOMEDCT_US_2021_03_01:784349004"^^xsd:string, "UMLS_CUI:C2750804"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1C"@en, "autosomal recessive cutis laxa type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070139"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IC"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070140 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:617402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070140"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070141 obo:IAO_0000115 "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "ORDO:357074"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2, Debre type"@en, "ARCL2, classic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070141"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type II classic type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070142 obo:IAO_0000115 "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "ORDO:90348"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070142"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070143 obo:IAO_0000115 "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract."^^xsd:string ; oboInOwl:hasDbXref "GARD:49"^^xsd:string, "MESH:C535990"^^xsd:string, "ORDO:2962"^^xsd:string, "SNOMEDCT_US_2021_03_01:238826008"^^xsd:string, "UMLS_CUI:C0268354"^^xsd:string ; oboInOwl:hasExactSynonym "De Barsy syndrome"@en, "cutis laxa-corneal clouding-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070143"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070144 obo:IAO_0000115 "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems."^^xsd:string ; oboInOwl:hasDbXref "GARD:8480"^^xsd:string, "MESH:C562628"^^xsd:string, "ORDO:90439"^^xsd:string, "SNOMEDCT_US_2021_03_01:254222002"^^xsd:string, "UMLS_CUI:C0268351"^^xsd:string, "UMLS_CUI:C0432336"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive cutis laxa type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070144"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070145 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12328"^^xsd:string, "MESH:D000699"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C156360"^^xsd:string, "OMIM:608654"^^xsd:string, "ORDO:608654"^^xsd:string, "SNOMEDCT_US_2021_03_01:128206006"^^xsd:string, "SNOMEDCT_US_2021_03_01:403605007"^^xsd:string, "UMLS_CUI:C0002768"^^xsd:string, "UMLS_CUI:C0020075"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN5"@en, "hereditary sensory and autonomic neuropathy type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070145"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070146 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3006"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C118633"^^xsd:string, "OMIM:256800"^^xsd:string, "ORDO:642"^^xsd:string, "SNOMEDCT_US_2021_03_01:62985007"^^xsd:string, "UMLS_CUI:C0020074"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary sensory neuropathy type IV"@en, "insensitivity to pain, congenital, with anhidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070147 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614213"^^xsd:string ; oboInOwl:hasExactSynonym "HSN2C"@en, "hereditary sensory neuropathy type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070147"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070148 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564296"^^xsd:string, "OMIM:608088"^^xsd:string, "ORDO:139564"^^xsd:string, "UMLS_CUI:C1842586"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN with cough and gastroesophageal reflux"@en, "hereditary sensory neuropathy type IB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070148"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0070149 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:12723"^^xsd:string, "ICD10CM:G60.8"^^xsd:string, "OMIM:615548"^^xsd:string, "ORDO:391397"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN7"@en, "hereditary sensory and autonomic neuropathy type VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070149"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070150 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613115"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2B"@en, "hereditary sensory and autonomic neuropathy type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070150"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070151 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.8"^^xsd:string, "OMIM:614653"^^xsd:string, "ORDO:314381"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN6"@en, "hereditary sensory and autonomic neuropathy type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070151"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070152 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:162400"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1A"@en, "hereditary sensory and autonomic neuropathy type IA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070152"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070153 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616488"^^xsd:string, "ORDO:478664"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN8"@en, "hereditary sensory and autonomic neuropathy type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070153"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070154 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615632"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1F"@en, "hereditary sensory neuropathy type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070154"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070155 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201300"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2A"@en, "hereditary sensory and autonomic neuropathy type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070155"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070156 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613708"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070156"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070157 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613640"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1C"@en, "hereditary sensory and autonomic neuropathy type IC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070157"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070158 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:11927"^^xsd:string, "ICD10CM:G60.8"^^xsd:string, "OMIM:614116"^^xsd:string, "ORDO:456318"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1E"@en, "hereditary sensory neuropathy type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070158"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070159 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070159"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy X-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070160 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070160"^^xsd:string ; a owl:Class ; rdfs:label "atypical hereditary sensory neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070161 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:3976"^^xsd:string, "MESH:D002607"^^xsd:string, "MESH:D009477"^^xsd:string, "ORDO:970"^^xsd:string, "SNOMEDCT_US_2021_03_01:30508001"^^xsd:string, "UMLS_CUI:C0020072"^^xsd:string, "UMLS_CUI:C0270914"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2"@en, "hereditary sensory and autonomic neuropathy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070161"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070162 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:6635"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C170433"^^xsd:string, "ORDO:36386"^^xsd:string, "SNOMEDCT_US_2021_03_01:52647008"^^xsd:string, "UMLS_CUI:C0020071"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1"@en, "hereditary sensory and autonomic neuropathy type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070162"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070163 obo:IAO_0000115 "A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617644"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070163"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070164 obo:IAO_0000115 "A male infertility characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108420"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070164"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070165 obo:IAO_0000115 "A male infertility characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617576"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070165"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070166 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617593"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070166"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070167 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000072660"^^xsd:string, "NCI:C158500"^^xsd:string, "OMIM:102530"^^xsd:string, "SNOMEDCT_US_2020_03_01:236818008"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070167"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070168 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606766"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070168"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070169 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613957"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070169"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070170 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617592"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070170"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070171 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615413"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070171"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070172 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616950"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070172"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070173 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567832"^^xsd:string, "OMIM:612997"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070173"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070174 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617214"^^xsd:string ; oboInOwl:hasExactSynonym "Male infertility due to oocyte activation failure"@en, "SPGF17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070174"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070175 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070175"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spermatogenic failure 9"^^xsd:string ; owl:deprecated true . obo:DOID_0070176 obo:IAO_0000115 "An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:270960"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070176"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070177 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617706"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070177"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070178 obo:IAO_0000115 "A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614822"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF10"@en, "Spermatogenic failure with defective sperm annulus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070178"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070179 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615842"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070179"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070180 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615081"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070180"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070181 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617707"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070181"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070182 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615841"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070182"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070183 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12385"^^xsd:string, "MESH:C562903"^^xsd:string, "OMIM:243060"^^xsd:string, "ORDO:137893"^^xsd:string, "SNOMEDCT_US_2020_03_01:236806004"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF5"@en, "infertility associated with multitailed spermatozoa and excessive DNA"@en, "macrocephalic sperm head syndrome"@en, "male infertility due to macrozoospermia"@en, "male infertility with large-headed, multiflagellar, polyploid spermatozoa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070183"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070184 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617187"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF16"@en, "acephalic spermatozoa syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070184"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070185 obo:IAO_0000115 "An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309120"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070185"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070186 obo:IAO_0000115 "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400042"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFY1"@en, "Y-linked Sertoli cell-only syndrome"@en, "type I Sertoli cell-only syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070186"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050457, obo:DOID_0050738, obo:DOID_0060388, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0070187 obo:IAO_0000115 "A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564030"^^xsd:string, "OMIM:415000"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFY2"@en, "nonobstructive Y-linked spermatogenic failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070187"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0070188 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258150"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF1"@en, "oligochiasmatic infertility"@en, "oligosynaptic infertility"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070188"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111910 . obo:DOID_0070189 obo:IAO_0000115 "A Sertoli cell-only syndrome characterized by X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305700"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070189"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050457 . obo:DOID_0070190 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070190"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM merged into X-linked chronic granulomatous disease[LS]"^^xsd:string ; rdfs:label "obsolete autosomal dominant chronic granulomatous disease"^^xsd:string ; owl:deprecated true . obo:DOID_0070191 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233710"^^xsd:string ; oboInOwl:hasExactSynonym "CDG2"@en, "autosomal recessive chronic granulomatous disease 2"^^xsd:string, "chronic granulomatous disease due to deficiency of NCF-2"@en, "deficiency of NCF2"@en, "deficiency of p67-PHOX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070191"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070192 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233700"^^xsd:string ; oboInOwl:hasExactSynonym "CDG1"@en, "autosomal recessive chronic granulomatous disease 1"^^xsd:string, "chronic granulomatous disease due to deficiency of NCF-1"@en, "deficiency of NCF1"@en, "deficiency of SOC2"@en, "deficiency of neutrophil cytosol factor 1"@en, "deficiency of p47-PHOX"@en, "deficiency of soluble oxidase component II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070192"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070193 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233690"^^xsd:string ; oboInOwl:hasExactSynonym "CGD due to deficiency of the alpha subunit of cytochrome b"@en, "CYBA deficiency"@en, "autosomal recessive chronic granulomatous disease 4"^^xsd:string, "autosomal recessive cytochrome b-negative CGD"@en, "chronic granulomatous disease due to deficiency of CYBA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070193"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-negative"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070194 obo:IAO_0000115 "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613960"^^xsd:string ; oboInOwl:hasExactSynonym "CDG3"@en, "autosomal recessive chronic granulomatous disease 3"^^xsd:string, "autosomal recessive cytochrome b-positive CGD type III"@en, "chronic granulomatous disease due to NCF4 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070194"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070195 obo:IAO_0000115 "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070190"^^xsd:string ; oboInOwl:hasDbXref "OMIM:306400"^^xsd:string ; oboInOwl:hasExactSynonym "CDGX"@en, "X-linked chronic cytochrome b-negative granulomatous disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070195"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chronic granulomatous disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070196 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development."^^xsd:string ; oboInOwl:hasDbXref "OMIM:160300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070196"^^xsd:string ; a owl:Class ; rdfs:label "infantile-onset distal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0070197 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10769"^^xsd:string, "OMIM:160500"^^xsd:string, "ORDO:59135"^^xsd:string ; oboInOwl:hasExactSynonym "Distal myopathy type 1"@en, "Gowers disease"@en, "Laing distal myopathy"@en, "Laing early-onset distal myopathy"@en, "MPD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070197"^^xsd:string ; a owl:Class ; rdfs:label "distal myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070198 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood."^^xsd:string ; oboInOwl:hasDbXref "GARD:9676"^^xsd:string, "MESH:C537480"^^xsd:string, "OMIM:PS254130"^^xsd:string, "ORDO:45448"^^xsd:string ; oboInOwl:hasExactSynonym "Miyoshi myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070198"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070199 obo:IAO_0000115 "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254130"^^xsd:string ; oboInOwl:hasExactSynonym "MMD1"@en, "Miyoshi myopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070199"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070200 obo:IAO_0000115 "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613318"^^xsd:string ; oboInOwl:hasExactSynonym "MMD2"@en, "Miyoshi myopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070200"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070201 obo:IAO_0000115 "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567645"^^xsd:string, "OMIM:613319"^^xsd:string ; oboInOwl:hasExactSynonym "MMD3"@en, "Miyoshi myopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070201"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070202 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3126"^^xsd:string, "MESH:D052496"^^xsd:string, "NCI:C165527"^^xsd:string, "OMIM:151660"^^xsd:string, "ORDO:2348"^^xsd:string, "SNOMEDCT_US_2021_03_01:715439000"^^xsd:string, "UMLS_CUI:C1720860"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD2"@en, "familial lipodystrophy of limbs and lower trunk"@en, "familial partial lipodystrophy Dunnigan type"@en, "reverse partial lipodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070202"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070203 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615238"^^xsd:string, "ORDO:435651"^^xsd:string ; oboInOwl:hasExactSynonym "CIDEC-related FPLD"@en, "FPLD5"@en, "familial partial lipodystrophy associated with CIDEC mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070203"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070204 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "GARD:12600"^^xsd:string, "MESH:D052496"^^xsd:string, "OMIM:604367"^^xsd:string, "ORDO:79083"^^xsd:string, "UMLS_CUI:C1720861"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD3"@en, "PPARG-related FPLD"@en, "PPARG-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with PPARG mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070204"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070205 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:12601"^^xsd:string, "OMIM:613877"^^xsd:string, "ORDO:280356"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD4"@en, "PLIN1-related FPLD"@en, "PLIN1-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with PLIN1 mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070205"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070206 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615980"^^xsd:string, "ORDO:435660"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD6"@en, "LIPE-related FPLD"@en, "LIPE-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with LIPE mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070206"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070207 obo:IAO_0000115 "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:12598"^^xsd:string, "MESH:D052496"^^xsd:string, "OMIM:608600"^^xsd:string, "ORDO:79084"^^xsd:string, "SNOMEDCT_US_2021_03_01:725035001"^^xsd:string, "UMLS_CUI:C1720859"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD1"@en, "familial partial lipodystrophy Kobberling type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070207"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440 . obo:DOID_0070208 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613480"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070208"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070209 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615907"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070209"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema ID"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070210 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153100"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070210"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070211 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611944"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070211"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070212 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:7220"^^xsd:string, "ICD10CM:Q82.0"^^xsd:string, "MESH:D008209"^^xsd:string, "NCI:C48829"^^xsd:string, "ORDO:79452"^^xsd:string, "SNOMEDCT_US_2021_03_01:268355000"^^xsd:string, "UMLS_CUI:C1704423"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1"@en, "Milroy disease"@en, "Nonne-Milroy lymphedema"@en, "PCL"@en, "congenital primary lymphedema"@en, "hereditary lymphedema type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070212"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580 . obo:DOID_0070213 obo:IAO_0000115 "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:3324"^^xsd:string, "ICD10CM:I89.0"^^xsd:string, "MESH:C562467"^^xsd:string, "OMIM:153200"^^xsd:string, "ORDO:90186"^^xsd:string, "SNOMEDCT_US_2021_03_01:234098006"^^xsd:string, "SNOMEDCT_US_2021_03_01:400040008"^^xsd:string, "UMLS_CUI:C0238261"^^xsd:string, "UMLS_CUI:C1704424"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH2"@en, "Meige disease"@en, "Meige lymphedema"@en, "late-onset lymphedema"@en, "lymphedema preacox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070213"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070214 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9932"^^xsd:string, "MESH:C538376"^^xsd:string, "OMIM:610021"^^xsd:string, "ORDO:165991"^^xsd:string, "UMLS_CUI:C1864902"^^xsd:string ; oboInOwl:hasExactSynonym "EIHI"@en, "HHF7"@en, "exercise-induced hyperinsulinemic hypoglycemia"@en, "exercise-induced hyperinsulinism"@en, "hyperinsulinism due to SLC16A1 deficiency"@en, "hyperinsulinism due to monocarboxylate transporter 1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070214"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070215 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2819"^^xsd:string, "OMIM:609975"^^xsd:string, "ORDO:71212"^^xsd:string ; oboInOwl:hasExactSynonym "HHF4"@en, "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en, "hyperinsulinism due to SCHAD deficiency"@en, "hyperinsulinism due to glutamodehydrogenase deficiency"@en, "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070215"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070216 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2818"^^xsd:string, "OMIM:602485"^^xsd:string, "ORDO:79299"^^xsd:string ; oboInOwl:hasExactSynonym "HHF3"@en, "hyperinsulinemic hypoglycemia due to glucokinase deficiency"@en, "hyperinsulinism due to glucokinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070216"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070217 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9931"^^xsd:string, "OMIM:606762"^^xsd:string, "ORDO:35878"^^xsd:string ; oboInOwl:hasExactSynonym "HHF6"@en, "HI/HA syndrome"@en, "hyperinsulinism-hyperammonemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070217"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070218 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601820"^^xsd:string ; oboInOwl:hasExactSynonym "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"@en, "HHF2"@en, "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070218"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070219 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256450"^^xsd:string ; oboInOwl:hasExactSynonym "HHF1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070219"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070220 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609968"^^xsd:string, "ORDO:263458"^^xsd:string ; oboInOwl:hasExactSynonym "HHF5"@en, "hyperinsulinemic hypoglycemia due to INSR deficiency"@en, "hyperinsulinemic hypoglycemia due to insulin receptor deficiency"@en, "hyperinsulinism due to INSR deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070220"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070221 obo:IAO_0000115 "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84453"^^xsd:string, "OMIM:PS211600"^^xsd:string, "ORDO:172"^^xsd:string, "SNOMEDCT_US_2021_03_01:74162007"^^xsd:string, "UMLS_CUI:C0268312"^^xsd:string ; oboInOwl:hasExactSynonym "PFIC; Byler disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070221"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070222 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1288"^^xsd:string, "MESH:C535934"^^xsd:string, "OMIM:601847"^^xsd:string, "ORDO:79304"^^xsd:string, "UMLS_CUI:C3489789"^^xsd:string ; oboInOwl:hasExactSynonym "BSEP deficiency"@en, "PFIC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070222"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070223 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:1289"^^xsd:string, "MESH:C535935"^^xsd:string, "OMIM:602347"^^xsd:string, "ORDO:79305"^^xsd:string, "UMLS_CUI:C1865643"^^xsd:string ; oboInOwl:hasExactSynonym "MDR3 deficiency"@en, "PFIC3"@en, "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070223"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070224 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615878"^^xsd:string, "ORDO:480483"^^xsd:string ; oboInOwl:hasExactSynonym "PFIC4"@en, "TJP2 deficit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070224"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070225 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617049"^^xsd:string, "ORDO:480476"^^xsd:string ; oboInOwl:hasExactSynonym "NR1H4 deficiency"@en, "PFIC5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070225"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070226 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9802"^^xsd:string, "MESH:C535933"^^xsd:string, "OMIM:211600"^^xsd:string, "ORDO:79306"^^xsd:string ; oboInOwl:hasExactSynonym "FIC1 deficiency"@en, "PFIC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070226"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070227 obo:IAO_0000115 "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery."^^xsd:string ; oboInOwl:hasDbXref "GARD:9804"^^xsd:string, "MESH:C535932"^^xsd:string, "ORDO:69665"^^xsd:string ; oboInOwl:hasExactSynonym "ICP"@en, "gravidic intrahepatic cholestasis"@en, "pregnancy related cholestasis"@en, "recurrent intrahepatic cholestasis of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070227"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070228 obo:IAO_0000115 "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:147480"^^xsd:string ; oboInOwl:hasExactSynonym "ICP1"@en, "pregnancy related cholestasis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070228"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070229 obo:IAO_0000115 "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614972"^^xsd:string ; oboInOwl:hasExactSynonym "ICP3"@en, "pregnancy related cholestasis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070229"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070230 obo:IAO_0000115 "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction."^^xsd:string ; oboInOwl:hasDbXref "GARD:12185"^^xsd:string, "NCI:C84402"^^xsd:string, "OMIM:PS243300"^^xsd:string, "ORDO:65682"^^xsd:string, "SNOMEDCT_US_2020_03_01:31155007"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC"@en, "Summerskill-Walshe-Tygstrup syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070230"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070231 obo:IAO_0000115 "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10028"^^xsd:string, "OMIM:243300"^^xsd:string, "ORDO:99960"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC type 1"@en, "BRIC1"@en, "Summerskill syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070231"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070230, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070232 obo:IAO_0000115 "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10029"^^xsd:string, "MESH:C535934"^^xsd:string, "OMIM:605479"^^xsd:string, "ORDO:99961"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC type 2"@en, "BRIC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070232"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070230, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070233 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614816"^^xsd:string ; oboInOwl:hasExactSynonym "Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations"@en, "LDS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070233"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070234 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610168"^^xsd:string ; oboInOwl:hasExactSynonym "AAT3"@en, "LDS2"@en, "Marfan syndrome type II"@en, "familial throacic aortic aneurysm 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070234"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070235 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609192"^^xsd:string ; oboInOwl:hasExactSynonym "AAT5"@en, "Furlong syndrome"@en, "LDS1"@en, "familial throacic aortic aneurysm 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070235"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070236 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615582"^^xsd:string ; oboInOwl:hasExactSynonym "LDS5"@en, "RNHF"@en, "Reinhoff syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070236"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070237 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613795"^^xsd:string ; oboInOwl:hasExactSynonym "LDS1C"@en, "LDS3"@en, "Loeys-Dietz syndrome type 1C"@en, "Loeys-Dietz syndrome with osteoarthritis"@en, "aneurysms-osteoarthritis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070237"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070238 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607426"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D1"@en, "CoQ deficiency 1"@en, "CoQ10 deficiency, primary, 1"@en, "coenzyme Q deficiency 1"@en, "ubiquinone deficiency 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070238"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070239 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614651"^^xsd:string, "ORDO:254898"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D2"@en, "coenzyme Q10 deficiency, primary, 2"@en, "deafness-encephaloneuropathy-obesity-valvulopathy syndrome"@en, "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070239"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070240 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614652"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D3"@en, "coenzyme Q10 deficiency, primary, 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070240"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070241 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10294"^^xsd:string, "OMIM:612016"^^xsd:string, "ORDO:139485"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D4"@en, "SCAR9"@en, "coenzyme Q10 deficiency, primary, 4"@en, "spinocerebellar ataxia, autosomal recessive 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070241"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070242 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614654"^^xsd:string, "ORDO:319678"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D5"@en, "coenzyme Q10 deficiency, primary, 5"@en, "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070242"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070243 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614650"^^xsd:string, "ORDO:280406"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D6"@en, "coenzyme Q10 deficiency, primary, 6"@en, "familial steroid-resistant nephrotic syndrome with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070243"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070244 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616276"^^xsd:string, "ORDO:457185"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D7"@en, "COQ4-related neonatal encephalomyopathy"@en, "coenzyme Q10 deficiency, primary, 7"@en, "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070244"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070245 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616733"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D8"@en, "coenzyme Q10 deficiency, primary, 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070245"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070246 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310300"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD1"@en, "EMD1"@en, "Emery-Dreifuss muscular dystrophy 1, X-linked"@en, "humeroperoneal neuromuscular disease"@en, "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures"@en, "scapuloperoneal syndrome, X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070246"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070247 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:181350"^^xsd:string, "ORDO:264"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD2"@en, "EMD2"@en, "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"@en, "Emery-Dreifuss muscular dystrophy, autosomal dominant"@en, "Hauptmann-Thannhauser muscular dystrophy"@en, "autosomal dominant limb-girdle muscular dystrophy type 1B"@en, "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant"@en, "scapuloilioperoneal atrophy with cardiopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070247"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070248 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616516"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD3"@en, "Emery-Dreifuss muscular dystrophy 3, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070248"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Emery-Dreifuss muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070249 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612998"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD4"@en, "Emery-Dreifuss muscular dystrophy 4 with variable features"@en, "Emery-Dreifuss muscular dystrophy 4, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070249"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070250 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612999"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD5"@en, "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070250"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070251 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300696"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD6"@en, "Emery-Dreifuss muscular dystrophy 6, X-linked"@en, "XMPMA"@en, "myopathy, X-linked, with postural muscle atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070251"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070252 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614302"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD7"@en, "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070252"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070253 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9828"^^xsd:string, "MESH:C535752"^^xsd:string, "OMIM:212066"^^xsd:string, "ORDO:79329"^^xsd:string, "SNOMEDCT_US_2021_03_01:724142005"^^xsd:string, "UMLS_CUI:C2931008"^^xsd:string ; oboInOwl:hasExactSynonym "Alkuraya syndrome"@en, "CDG IIa"@en, "CDG2A"@en, "CDGIIa"@en, "CDGS2"@en, "carbohydrate-deficient glycoprotein syndrome, type II"@en, "congenital disorder of glycosylation, type IIa"@en, "mental retardation, growth retardation, prominent columella, and open mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070253"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070254 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10767"^^xsd:string, "MESH:C565264"^^xsd:string, "OMIM:606056"^^xsd:string, "ORDO:79330"^^xsd:string, "SNOMEDCT_US_2021_03_01:725028009"^^xsd:string, "UMLS_CUI:C1853736"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIb"@en, "CDG2B"@en, "CDGIIb"@en, "glucosidase I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070254"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIb"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070255 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4634"^^xsd:string, "MESH:C535755"^^xsd:string, "NCI:C4690"^^xsd:string, "OMIM:266265"^^xsd:string, "ORDO:99843"^^xsd:string, "SNOMEDCT_US_2021_03_01:234583001"^^xsd:string, "UMLS_CUI:C0398739"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIc"@en, "CDG2C"@en, "CDGIIc"@en, "Rambam-Hasharon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070255"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070256 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9841"^^xsd:string, "MESH:C535753"^^xsd:string, "OMIM:607091"^^xsd:string, "ORDO:79332"^^xsd:string, "SNOMEDCT_US_2021_03_01:725587007"^^xsd:string, "UMLS_CUI:C2931009"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IId"@en, "CDG2D"@en, "CDGIId"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070256"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IId"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070257 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9842"^^xsd:string, "MESH:C535754"^^xsd:string, "OMIM:608779"^^xsd:string, "ORDO:79333"^^xsd:string, "SNOMEDCT_US_2021_03_01:717773005"^^xsd:string, "UMLS_CUI:C2931010"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIe"@en, "CDG syndrome type IIe"@en, "CDG2E"@en, "CDGIIde"@en, "COG7-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070257"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIe"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070258 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "GARD:12409"^^xsd:string, "MESH:C567040"^^xsd:string, "OMIM:603585"^^xsd:string, "ORDO:238459"^^xsd:string, "SNOMEDCT_US_2021_03_01:723624008"^^xsd:string, "UMLS_CUI:C1970344"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIf"@en, "CDG2F"@en, "CDGIIdf"@en, "CMP-sialic acid transporter deficiency"@en, "Carbohydrate deficient glycoprotein syndrome type IIf"@en, "SLC35A1-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070258"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIf"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070259 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10226"^^xsd:string, "MESH:C535756"^^xsd:string, "OMIM:611209"^^xsd:string, "ORDO:263508"^^xsd:string, "SNOMEDCT_US_2021_03_01:718750004"^^xsd:string, "UMLS_CUI:C2931011"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIg"@en, "CDG2G"@en, "CDGII/COG1 cerebrocostomandibular-like syndrome"@en, "CDGIIg"@en, "Carbohydrate deficient glycoprotein syndrome type IIg"@en, "Congenital disorder of glycosylation type IIg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070259"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIg"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070260 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12411"^^xsd:string, "MESH:C566987"^^xsd:string, "OMIM:611182"^^xsd:string, "ORDO:95428"^^xsd:string, "SNOMEDCT_US_2021_03_01:717774004"^^xsd:string, "UMLS_CUI:C1970021"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIh"@en, "CDG2H"@en, "CDGIIdh"@en, "COG8-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIh"@en, "Congenital disorder of glycosylation type 2h"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070260"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIh"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070261 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12348"^^xsd:string, "OMIM:613612"^^xsd:string, "ORDO:263487"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIi"@en, "CDG syndrome type IIi"@en, "CDG2I"@en, "CDGIIdi"@en, "COG5-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIi"@en, "Congenital disorder of glycosylation type 2i"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070261"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIi"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070262 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12412"^^xsd:string, "OMIM:613489"^^xsd:string, "ORDO:263501"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIj"@en, "CDG syndrome type IIj"@en, "CDG2J"@en, "CDGIIdj"@en, "COG4-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIj"@en, "Congenital disorder of glycosylation type 2j"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070262"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIj"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070263 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12413"^^xsd:string, "OMIM:614727"^^xsd:string, "ORDO:314667"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIk"@en, "CDG syndrome type IIk"@en, "CDG2K"@en, "CDGIIdk"@en, "Carbohydrate deficient glycoprotein syndrome type IIk"@en, "Congenital disorder of glycosylation type 2k"@en, "TMEM165-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070263"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIk"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070264 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10944"^^xsd:string, "OMIM:614576"^^xsd:string, "ORDO:464443"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIl"@en, "CDG syndrome type IIL"@en, "CDG2L"@en, "CDGIIdl"@en, "COG6-CGD"@en, "Congenital disorder of glycosylation type 2l"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070264"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIl"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070265 obo:IAO_0000115 "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080469"^^xsd:string ; oboInOwl:hasDbXref "GARD:12403"^^xsd:string, "OMIM:300896"^^xsd:string, "ORDO:356961"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital disorder of glycosylation type 2m"@en, "SLC35A2-CDG"@en, "congenital disorder of glycosylation type 2m"@en, "developmental and epileptic encephalopathy 22"^^xsd:string, "epileptic encephalopathy, early infantile, 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070265"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070266 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616721"^^xsd:string, "ORDO:468699"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIn"@en, "CDG syndrome type IIn"@en, "CDG2N"@en, "CDGIIdn"@en, "Carbohydrate deficient glycoprotein syndrome type IIn"@en, "Congenital disorder of glycosylation type 2n"@en, "SLC39A8-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070266"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIn"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070267 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616828"^^xsd:string, "ORDO:468684"^^xsd:string ; oboInOwl:hasExactSynonym "CCDC115-CDG"@en, "CDG IIo"@en, "CDG syndrome type IIo"@en, "CDG2O"@en, "CDGIIdo"@en, "Carbohydrate deficient glycoprotein syndrome type IIo"@en, "Congenital disorder of glycosylation type 2o"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070267"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIo"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070268 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616829"^^xsd:string, "ORDO:466703"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIp"@en, "CDG syndrome type IIp"@en, "CDG2P"@en, "CDGIIdp"@en, "Carbohydrate deficient glycoprotein syndrome type IIp"@en, "Congenital disorder of glycosylation type 2p"@en, "TMEM199-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070268"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIp"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070269 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617395"^^xsd:string, "ORDO:435934"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIq"@en, "CDG2Q"@en, "CDGIIdq"@en, "COG2-CDG"@en, "COG2-related congenital disorder of glycosylation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070269"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIq"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070270 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613244"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070270"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_3883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0070271 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:120435"^^xsd:string ; oboInOwl:hasExactSynonym "FCC1"@en, "HNPCC1"@en, "familial nonpolyposis colon cancer type 1"@en, "hereditary nonpolyposis colorectal cancer type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070271"^^xsd:string ; a owl:Class ; rdfs:label "Lynch syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070272 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614350"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070272"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070273 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614331"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070273"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070274 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609310"^^xsd:string ; oboInOwl:hasExactSynonym "COCA2"@en, "FCC2"@en, "HNPCC2"@en, "familial nonpolyposis colon cancer type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070274"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070275 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614337"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070275"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070276 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614385"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070276"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070277 obo:IAO_0000115 "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616486"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH15"@en, "NEDMISBA"^^xsd:string, "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070277"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070278 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612703"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070278"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070279 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616402"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070279"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070280 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608716"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070280"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070281 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617800"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070281"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070282 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614673"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070282"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070283 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616051"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070283"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070284 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616080"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070284"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070285 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:251200"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070285"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070286 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604804"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070286"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070287 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615414"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070287"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070288 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617090"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070288"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070289 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616681"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070289"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070290 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608393"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070290"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070291 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604321"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070291"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070292 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614852"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070292"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070293 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604317"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070293"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 2 with or without cortical malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070294 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615095"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070294"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070295 obo:IAO_0000115 "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617520"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070295"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal dominant microcephaly 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070297, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070296 obo:IAO_0000115 "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation."^^xsd:string ; oboInOwl:hasDbXref "GARD:12117"^^xsd:string, "OMIM:PS251200"^^xsd:string, "ORDO:2512"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070296"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070297, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070297 obo:IAO_0000115 "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation."^^xsd:string ; oboInOwl:hasExactSynonym "true microcephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070297"^^xsd:string ; a owl:Class ; rdfs:label "primary microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_10907 . obo:DOID_0070298 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600204"^^xsd:string ; oboInOwl:hasExactSynonym "EDM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070298"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070299 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9794"^^xsd:string, "MESH:C535505"^^xsd:string, "OMIM:607078"^^xsd:string, "ORDO:93311"^^xsd:string, "UMLS_CUI:C1846843"^^xsd:string ; oboInOwl:hasExactSynonym "BHMED"@en, "EDM5"@en, "bilateral hereditary microepiphyseal dysplasia"@en, "multiple epiphyseal dysplasia MATN3-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070299"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070300 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:9793"^^xsd:string, "MESH:C535504"^^xsd:string, "OMIM:226900"^^xsd:string, "ORDO:93307"^^xsd:string, "SNOMEDCT_US_2021_03_01:715672007"^^xsd:string, "UMLS_CUI:C1847593"^^xsd:string ; oboInOwl:hasExactSynonym "EDM4"@en, "MED4"@en, "Polyepiphyseal dysplasia type 4"@en, "multiple epiphyseal dysplasia with bilateral patellae"@en, "multiple epiphyseal dysplasia with clubfoot"@en, "rMED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070300"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070301 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614135"^^xsd:string ; oboInOwl:hasExactSynonym "EDM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070301"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070302 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617719"^^xsd:string ; oboInOwl:hasExactSynonym "EDM7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070302"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070303 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2180"^^xsd:string, "MESH:C535501"^^xsd:string, "OMIM:132400"^^xsd:string, "ORDO:93308"^^xsd:string, "UMLS_CUI:C1838280"^^xsd:string ; oboInOwl:hasExactSynonym "EDM1"@en, "MED1"@en, "multiple epiphyseal dysplasia COMP-related"@en, "polyepiphyseal dysplasia type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070303"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070304 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600969"^^xsd:string ; oboInOwl:hasExactSynonym "EDM3"@en, "multiple epiphyseal dysplasia 3 with or without myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070304"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070305 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)."^^xsd:string ; oboInOwl:hasDbXref "ORDO:166002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070305"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia due to collagen 9 anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070306 obo:IAO_0000115 "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies."^^xsd:string ; oboInOwl:hasExactSynonym "post cardiac syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070306"^^xsd:string ; a owl:Class ; rdfs:label "post-cardiac arrest syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070307 obo:IAO_0000115 "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564332"^^xsd:string, "OMIM:607812"^^xsd:string, "ORDO:50814"^^xsd:string, "SNOMEDCT_US_2021_03_01:725100001"^^xsd:string, "UMLS_CUI:C1843042"^^xsd:string ; oboInOwl:hasExactSynonym "Boyadjiev-Jabs Syndrome"@en, "cranio-lenticulo-sutural dysplasia, CLSD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070307"^^xsd:string ; a owl:Class ; rdfs:label "craniolenticulosutural dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070308 obo:IAO_0000115 "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535686"^^xsd:string, "OMIM:600332"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070308"^^xsd:string ; a owl:Class ; rdfs:label "rippling muscle disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0070309 obo:IAO_0000115 "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004832"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070309"^^xsd:string ; a owl:Class ; rdfs:label "absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0070310 obo:IAO_0000115 "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity."^^xsd:string ; oboInOwl:hasExactSynonym "drug induced hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070310"^^xsd:string ; a owl:Class ; rdfs:label "drug-induced hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563 . obo:DOID_0070311 obo:IAO_0000115 "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility."^^xsd:string ; oboInOwl:hasExactSynonym "OAT"@en, "oligoasthenoteratospermia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070311"^^xsd:string ; a owl:Class ; rdfs:label "oligoasthenoteratozoospermia"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0070312 obo:IAO_0000115 "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Peters-Plus Syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070313 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by low levels of thiamine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C34418"^^xsd:string, "SNOMEDCT_US_2020_03_01:399357009"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thiamine deficiency disease"@en ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0070314 obo:IAO_0000115 "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2018_03_01:86249007"^^xsd:string ; oboInOwl:hasExactSynonym "CON"@en, "congenital obstructive nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070314"^^xsd:string ; a owl:Class ; rdfs:label "obstructive nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0070315 obo:IAO_0000115 "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "GARD:2922"^^xsd:string, "ICD10CM:Q22.6"^^xsd:string, "SNOMEDCT_US_2018_03_01:268180007"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070315"^^xsd:string ; a owl:Class ; rdfs:label "hypoplastic right heart syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_0070316 obo:IAO_0000115 "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615923"^^xsd:string, "ORDO:329191"^^xsd:string ; oboInOwl:hasExactSynonym "ECDM"@en, "tall stature-scoliosis-macrodactyly of the great toes syndrome"@en, "tall stature-scoliosis-macrodactyly of the halluces syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070316"^^xsd:string ; a owl:Class ; rdfs:label "Miura type epiphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070317 obo:IAO_0000115 "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "GARD:9948"^^xsd:string, "ICD10CM:E51.12"^^xsd:string, "SNOMEDCT_US_2020_03_01:67360000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070317"^^xsd:string ; a owl:Class ; rdfs:label "wet beriberi"@en ; rdfs:subClassOf obo:DOID_13725 . obo:DOID_0070318 obo:IAO_0000115 "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting."^^xsd:string ; oboInOwl:hasDbXref "GARD:9948"^^xsd:string, "ICD10CM:E51.11"^^xsd:string, "SNOMEDCT_US_2020_09_01:71021002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070318"^^xsd:string ; a owl:Class ; rdfs:label "dry beriberi"@en ; rdfs:subClassOf obo:DOID_13725, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0070319 obo:IAO_0000115 "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2020_03_01:26988005"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070319"^^xsd:string ; a owl:Class ; rdfs:label "miliaria pustulosa"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070320 obo:IAO_0000115 "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash."^^xsd:string ; oboInOwl:hasExactSynonym "ICD10CM:L74.2"@en, "SNOMEDCT_US_2020_03_01:47317002"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070320"^^xsd:string ; a owl:Class ; rdfs:label "miliaria profunda"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070321 obo:IAO_0000115 "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.1"^^xsd:string, "SNOMEDCT_US_2020_09_01:44279002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070321"^^xsd:string ; a owl:Class ; rdfs:label "miliaria crystallina"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070322 obo:IAO_0000115 "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma."^^xsd:string ; oboInOwl:hasDbXref "GARD:9331"^^xsd:string, "NCI:C7955"^^xsd:string, "ORDO:33402"^^xsd:string ; oboInOwl:hasExactSynonym "childhood hepatocellular carcinoma"@en, "pediatric hepatocellular carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070322"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_684, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070323 obo:IAO_0000115 "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M9861/3"^^xsd:string, "NCI:C9160"^^xsd:string ; oboInOwl:hasExactSynonym "childhood acute myeloid leukaemia"@en, "paediatric acute myeloid leukaemia"@en, "pediatric acute myeloid leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070323"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood acute myeloid leukemia"@en ; rdfs:subClassOf obo:DOID_7757, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070324 obo:IAO_0000115 "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "ICDO:9724/3"^^xsd:string, "MESH:D008232"^^xsd:string, "NCI:C80374"^^xsd:string, "ORDO:364033"^^xsd:string, "SNOMEDCT_US_2019_09_01:450906003"^^xsd:string ; oboInOwl:hasExactSynonym "EBV-positive T-cell lymphoproliferative disorder of childhood"@en, "systemic EBV-positive T-cell lymphoma of childhood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070324"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "systemic Epstein-Barr virus-positive T-cell lymphoma of childhood"@en ; rdfs:subClassOf obo:DOID_5823, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070325 obo:IAO_0000115 "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults."^^xsd:string ; oboInOwl:hasDbXref "GARD:9368"^^xsd:string, "NCI:C118822"^^xsd:string ; oboInOwl:hasExactSynonym "malignant pediatric adrenal gland pheochromocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070325"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant childhood adrenal gland pheochromocytoma"@en ; rdfs:subClassOf obo:DOID_0050892, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070326 obo:IAO_0000115 "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C136825"^^xsd:string ; oboInOwl:hasExactSynonym "atypical spitz nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070326"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spitzoid melanoma"@en ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_0070327 obo:IAO_0000115 "A skin melanoma that arises from a congenital melanocytic nevus."^^xsd:string ; oboInOwl:hasDbXref "GARD:2469"^^xsd:string, "ICDO:M8761/3"^^xsd:string, "NCI:C48613"^^xsd:string, "SNOMEDCT_US_2019_09_01:75931002"^^xsd:string ; oboInOwl:hasExactSynonym "Malignant melanoma in congenital melanocytic nevus"@en, "melanocytic nevi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070327"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanoma in congenital melanocytic nevus"@en ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_0070328 obo:IAO_0000115 "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7956"^^xsd:string, "ORDO:210159"^^xsd:string, "UMLS_CUI:C0279607"^^xsd:string ; oboInOwl:hasExactSynonym "adult hepatoma"@en, "adult primary hepatocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_684, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000798 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0070329 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:13643"^^xsd:string, "OMIM:PS603041"^^xsd:string, "ORDO:35698"^^xsd:string ; oboInOwl:hasExactSynonym "mtDNA depletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070329"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0070330 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "MESH:C565304"^^xsd:string, "OMIM:PS605711"^^xsd:string, "ORDO:289573"^^xsd:string ; oboInOwl:hasExactSynonym "fatal multiple mitochondrial dysfunction syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070330"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0070331 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536350"^^xsd:string, "OMIM:612075"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070331"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 8b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0070332 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070332"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070333 obo:IAO_0000115 "A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070333"^^xsd:string ; a owl:Class ; rdfs:label "breast implant-associated anaplastic large cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0070334 obo:IAO_0000115 "A food allergy triggered by a vegetable food product."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070334"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "vegetable allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001261 ] . obo:DOID_0070335 obo:IAO_0000115 "A vegetable allergy triggered by celery (Apium graveolens)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070335"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "celery allergy"@en ; rdfs:subClassOf obo:DOID_0070334, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001705 ] . obo:DOID_0070337 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122400"^^xsd:string ; oboInOwl:hasExactSynonym "COL17A1"^^xsd:string, "ERED"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070337"^^xsd:string ; a owl:Class ; rdfs:label "epithelial recurrent erosion dystrophy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070338 obo:IAO_0000115 "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed."^^xsd:string ; oboInOwl:hasDbXref "GARD:1194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070338"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar hypoplasia"@en ; rdfs:subClassOf obo:DOID_2786 ; skos:exactMatch "MESH:C562568"^^xsd:string . obo:DOID_0070339 obo:IAO_0000115 "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."^^xsd:string ; oboInOwl:hasDbXref "OMIM:213000"^^xsd:string, "ORDO:2246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070339"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070340 obo:IAO_0000115 "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070340"^^xsd:string ; a owl:Class ; rdfs:label "classic citrullinemia"@en ; rdfs:subClassOf obo:DOID_9273 . obo:DOID_0070341 obo:IAO_0000115 "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605814"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal-onset type 2 citrullinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070341"^^xsd:string ; a owl:Class ; rdfs:label "neonatal-onset type II citrullinemia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070342 obo:IAO_0000115 "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603471"^^xsd:string ; oboInOwl:hasExactSynonym "citrin deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070342"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset type II citrullinemia"@en ; rdfs:subClassOf obo:DOID_9273, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0070343 obo:IAO_0000115 "A neuroaxonal dystrophy that has_material_basis in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600329"^^xsd:string ; oboInOwl:hasExactSynonym "osteoporosis and infantile neuroaxonal dystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070343"^^xsd:string ; a owl:Class ; rdfs:label "CSF1R-related brain malformation and osteopetrosis"@en ; rdfs:subClassOf obo:DOID_2367 . obo:DOID_0070344 obo:IAO_0000115 "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_sypmtom inflamed eyes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070344"^^xsd:string ; a owl:Class ; rdfs:label "ocular tuberculosis"@en ; rdfs:subClassOf obo:DOID_399, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0070345 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618223"^^xsd:string ; oboInOwl:hasExactSynonym "heterozygotes for TBX2 variants"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070345"^^xsd:string ; a owl:Class ; rdfs:label "vertebral anomalies and variable endocrine and T-cell dysfunction"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070346 obo:IAO_0000115 "A syndrome that is characterized by common dysmorphic features including frontal bossing, small palebral fissures, widely spaced eyes, and has_symptom abnormal gait, hypotonia, and cataracts."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070346"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070347 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614388"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070347"^^xsd:string ; a owl:Class ; rdfs:label "encephalopathy due to defective mitochondrial and peroxisomal fission 1"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070348 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS158600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070348"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070349 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070349"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance 2A"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070350 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070350"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominante 2B"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070351 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070351"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance 1"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070352 obo:IAO_0000115 "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618170"^^xsd:string ; oboInOwl:hasExactSynonym "CONDSIAS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070352"^^xsd:string ; a owl:Class ; rdfs:label "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070353 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612018"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070353"^^xsd:string ; a owl:Class ; rdfs:label "cataract 47"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070354 obo:IAO_0000115 "A cataract that has_material_basis homozygous mutation in the DNMBP gene on chromosome 10q24 and is characteriaed by infantile or early-childhood cataracts and visual impairment."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618415"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070354"^^xsd:string ; a owl:Class ; rdfs:label "cataract 48"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070356 obo:IAO_0000115 "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005128"^^xsd:string, "OMIM:618283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070356"^^xsd:string ; a owl:Class ; rdfs:label "visual impairment and progressive phthisis bulbi"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070357 obo:IAO_0000115 "A familial nephrotic syndrome that _has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301028"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070357"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 20"@en ; rdfs:subClassOf obo:DOID_2590 . obo:DOID_0080000 obo:IAO_0000115 "A musculoskeletal system disease that affects the muscles."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080000"^^xsd:string ; a owl:Class ; rdfs:label "muscular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_0080001 obo:IAO_0000115 "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1290"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M89.9"^^xsd:string, "MESH:D001847"^^xsd:string, "SNOMEDCT_US_2021_03_01:76069003"^^xsd:string, "UMLS_CUI:C0005940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "skeletal disease"@en ; oboInOwl:id "DOID:0080001"^^xsd:string ; a owl:Class ; rdfs:label "bone disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ] . obo:DOID_0080005 obo:IAO_0000115 "A bone disease that results_in formation or resorption abnormalities located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080005"^^xsd:string ; a owl:Class ; rdfs:label "bone remodeling disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080006 obo:IAO_0000115 "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080006"^^xsd:string ; a owl:Class ; rdfs:label "bone development disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080007 obo:IAO_0000115 "A bone structure disease that results_in change or damage of structure located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080007"^^xsd:string ; a owl:Class ; rdfs:label "bone deterioration disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010 . obo:DOID_0080008 obo:IAO_0000115 "A bone disease that results_in an interruption of blood supply located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080008"^^xsd:string ; a owl:Class ; rdfs:label "ischemic bone disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080009 obo:IAO_0000115 "A X-linked monogenic disease that has_material_basis_in dominant inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080009"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dominant disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] ) ] . obo:DOID_0080010 obo:IAO_0000115 "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080010"^^xsd:string ; a owl:Class ; rdfs:label "bone structure disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080011 obo:IAO_0000115 "A bone remodeling disease that results in an abnormal decrease of bone density or mass."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080011"^^xsd:string ; a owl:Class ; rdfs:label "bone resorption disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_0080012 obo:IAO_0000115 "A X-linked monogenic disease that has_material_basis_in recessive inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080012"^^xsd:string ; a owl:Class ; rdfs:label "X-linked recessive disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ) ] . obo:DOID_0080013 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080013"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mitochondrial disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080014 obo:IAO_0000115 "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080014"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "chromosomal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_630 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000183 ] ) ] . obo:DOID_0080015 obo:IAO_0000115 "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080015"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "physical disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ) ] . obo:DOID_0080016 obo:IAO_0000115 "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development."^^xsd:string ; oboInOwl:hasDbXref "GARD:7673"^^xsd:string, "ICD10CM:Q05"^^xsd:string, "ICD9CM:741"^^xsd:string, "MESH:D016135"^^xsd:string, "NCI:C101214"^^xsd:string, "SNOMEDCT_US_2021_03_01:156888006"^^xsd:string, "UMLS_CUI:C0080178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080016"^^xsd:string ; a owl:Class ; rdfs:label "spina bifida"^^xsd:string ; rdfs:subClassOf obo:DOID_0080074 ; skos:exactMatch "MESH:D016135"^^xsd:string, "NCI:C101214"^^xsd:string . obo:DOID_0080017 oboInOwl:hasExactSynonym "OPCA type 5"@en, "OPCA with dementia and extrapyramidal signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080017"^^xsd:string ; a owl:Class ; rdfs:label "obsolete olivopontocerebellar atrophy V"^^xsd:string ; owl:deprecated true . obo:DOID_0080018 obo:IAO_0000115 "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone."^^xsd:string ; oboInOwl:hasExactSynonym "Caisson disease of bone"@en, "DON"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080018"^^xsd:string ; a owl:Class ; rdfs:label "dysbaric osteonecrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008 . obo:DOID_0080019 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215050"^^xsd:string ; oboInOwl:hasExactSynonym "Bakwin-Krida syndrome"@en, "Pyle's disease"@en, "Pyle-Cohn syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080019"^^xsd:string ; a owl:Class ; rdfs:label "metaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080020 obo:IAO_0000115 "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156400"^^xsd:string ; oboInOwl:hasExactSynonym "Jansen Disease"@en, "Jansen Metaphyseal Dysostosis"@en, "Jansen metaphyseal chondrodysplasia"@en, "Murk Jansen Type Metaphyseal Chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080020"^^xsd:string ; a owl:Class ; rdfs:label "Jansen's metaphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080019, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0008873 ] . obo:DOID_0080021 obo:IAO_0000115 "A metaphyseal dysplasia that results_in dwarfism and bowed legs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7029"^^xsd:string, "OMIM:156500"^^xsd:string ; oboInOwl:hasExactSynonym "Japanese type spondylometaphyseal dysplasia"@en, "Schmid type metaphyseal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080021"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Schmid metaphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080019, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080022 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete McKusick type metaphyseal dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080023 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080023"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080024 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080024"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pyles dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080026 obo:IAO_0000115 "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215150"^^xsd:string ; oboInOwl:hasExactSynonym "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS"@en, "NANCE-INSLEY SYNDROME"@en, "NANCE-SWEENEY CHONDRODYSPLASIA"@en, "OSMEDB"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080026"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal recessive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000926 ] . obo:DOID_0080027 obo:IAO_0000115 "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080027"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080028 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:184250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080028"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "spondyloepimetaphyseal dysplasia, Strudwick type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000768 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000926 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001762 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002812 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003307 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080029 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080029"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080030 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080030"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "spondyloepimetaphyseal dysplasia, Missouri type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002970 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004566 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080031 obo:IAO_0000115 "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:6444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080031"^^xsd:string ; a owl:Class ; rdfs:label "fibrous dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_0080032 obo:IAO_0000115 "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal."^^xsd:string ; oboInOwl:hasDbXref "GARD:1567"^^xsd:string, "MESH:C562940"^^xsd:string, "OMIM:218300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080032"^^xsd:string ; a owl:Class ; rdfs:label "craniodiaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] ; skos:exactMatch "MESH:C562940"^^xsd:string . obo:DOID_0080033 obo:IAO_0000115 "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS123000"^^xsd:string, "ORDO:1522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080033"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "craniometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080034 obo:IAO_0000115 "A hyperostosis of endosteal bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080034"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endosteal hyperostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0080036 obo:IAO_0000115 "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080035"^^xsd:string ; oboInOwl:hasDbXref "OMIM:239100"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "van Buchem disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080036"^^xsd:string ; a owl:Class ; rdfs:label "SOST-related sclerosing bone dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_205, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001548 ] . obo:DOID_0080037 obo:IAO_0000115 "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0111372"^^xsd:string ; oboInOwl:hasDbXref "GARD:390"^^xsd:string, "MESH:C536748"^^xsd:string, "OMIM:144750"^^xsd:string, "ORDO:2790"^^xsd:string, "SNOMEDCT_US_2021_03_01:254131007"^^xsd:string, "UMLS_CUI:C0432273"^^xsd:string ; oboInOwl:hasExactSynonym "Worth's syndrome"@en, "autosomal dominant endosteal hyperostosis"@en, "autosomal dominant osteosclerosis"@en, "benign form of Worth hyperostosis corticalis generalisata with torus platinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080037"^^xsd:string ; a owl:Class ; rdfs:label "Worth syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_205, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080038 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."^^xsd:string ; oboInOwl:hasDbXref "GARD:4611"^^xsd:string, "MESH:D058631"^^xsd:string, "OMIM:265800"^^xsd:string, "ORDO:763"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080038"^^xsd:string ; a owl:Class ; rdfs:label "pycnodysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080039 obo:IAO_0000115 "An osteosclerosis that results_in coarsening located_in trabecular bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:8431"^^xsd:string, "OMIM:109130"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080039"^^xsd:string ; a owl:Class ; rdfs:label "axial osteomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080040 obo:IAO_0000115 "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures."^^xsd:string ; oboInOwl:hasExactSynonym "Baker's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080040"^^xsd:string ; a owl:Class ; rdfs:label "fibrogenesis imperfecta ossium"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080041 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasDbXref "GARD:6724"^^xsd:string, "ICD10CM:Q77.4"^^xsd:string, "MESH:C562937"^^xsd:string, "NCI:C118697"^^xsd:string, "OMIM:146000"^^xsd:string, "ORDO:429"^^xsd:string, "SNOMEDCT_US_2021_03_01:205468002"^^xsd:string, "UMLS_CUI:C0410529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080041"^^xsd:string ; a owl:Class ; rdfs:label "hypochondroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080042 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616204"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080042"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080043 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period."^^xsd:string ; oboInOwl:hasDbXref "GARD:2882"^^xsd:string, "OMIM:PS200600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080043"^^xsd:string ; a owl:Class ; rdfs:label "achondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000774 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080044 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563007"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080044"^^xsd:string ; a owl:Class ; rdfs:label "hypochondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001789 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080045 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face."^^xsd:string ; oboInOwl:hasDbXref "GARD:6841"^^xsd:string, "MESH:C537207"^^xsd:string, "OMIM:156550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080045"^^xsd:string ; a owl:Class ; rdfs:label "Kniest dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000272 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003521 ] . obo:DOID_0080046 obo:IAO_0000115 "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems."^^xsd:string ; oboInOwl:hasDbXref "GARD:10782"^^xsd:string, "OMIM:PS108300"^^xsd:string, "ORDO:828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080046"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Stickler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080047 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14800"^^xsd:string ; oboInOwl:hasDbXref "GARD:4540"^^xsd:string, "MESH:C535819"^^xsd:string, "OMIM:177170"^^xsd:string ; oboInOwl:hasExactSynonym "PSEUDOACHONDROPLASIA"@en, "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC"@en, "pseudoachondroplastic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080047"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudoachondroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080048 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080048"^^xsd:string ; a owl:Class ; rdfs:label "obsolete trichorhinophalangeal syndrome I"^^xsd:string ; owl:deprecated true . obo:DOID_0080049 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasDbXref "GARD:6"^^xsd:string, "ORDO:93437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080049"^^xsd:string ; a owl:Class ; rdfs:label "acromesomelic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080050 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535661"^^xsd:string, "OMIM:602875"^^xsd:string, "ORDO:40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080050"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acromesomelic dysplasia, Maroteaux type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002101 ] . obo:DOID_0080051 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201250"^^xsd:string, "ORDO:968"^^xsd:string ; oboInOwl:hasExactSynonym "acromesomelic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080051"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acromesomelic dysplasia, Hunter-Thompson type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080052 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."^^xsd:string ; oboInOwl:hasDbXref "OMIM:200700"^^xsd:string, "ORDO:2098"^^xsd:string ; oboInOwl:hasExactSynonym "grebe chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080052"^^xsd:string ; a owl:Class ; rdfs:label "acromesomelic dysplasia, Grebe type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080053 obo:IAO_0000115 "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face."^^xsd:string ; oboInOwl:hasDbXref "GARD:5770"^^xsd:string, "MESH:C537045"^^xsd:string, "OMIM:103580"^^xsd:string ; oboInOwl:hasExactSynonym "Albright hereditary osteodystrophy"@en, "pseudohypoparathyroidism type 1a"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080053"^^xsd:string ; a owl:Class ; rdfs:label "Albright's hereditary osteodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4184, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ] . obo:DOID_0080054 obo:IAO_0000115 "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine."^^xsd:string ; oboInOwl:hasDbXref "GARD:459"^^xsd:string, "OMIM:200600"^^xsd:string ; oboInOwl:hasExactSynonym "achondrogenesis Houston-Harris type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080054"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080055 obo:IAO_0000115 "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."^^xsd:string ; oboInOwl:hasDbXref "GARD:460"^^xsd:string, "OMIM:600972"^^xsd:string ; oboInOwl:hasExactSynonym "achondrogenesis Fraccaro type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080055"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080056 obo:IAO_0000115 "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis."^^xsd:string ; oboInOwl:hasDbXref "GARD:8713"^^xsd:string, "OMIM:200610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080056"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060564, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080057 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080057"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080058 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615386"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080058"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080059 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12232"^^xsd:string, "OMIM:609270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080059"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080060 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614322"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080060"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080061 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:213200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080061"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080062 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080062"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080063 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080063"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080064 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616127"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080064"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080065 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616291"^^xsd:string ; oboInOwl:hasExactSynonym "Lichtenstein-Knorr syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080065"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080066 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616354"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080066"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080067 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600361"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy with pyramidal features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080067"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10595, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080068 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:601152"^^xsd:string, "OMIM:616505"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080068"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0080069 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080069"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0080070 obo:IAO_0000115 "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T17:58:48Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6749"^^xsd:string, "OMIM:252500"^^xsd:string ; oboInOwl:hasExactSynonym "I-cell disease"@en, "inclusion-cell disease"^^xsd:string, "mucolipidosis II"@en, "mucolipidosis II alpha/beta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080070"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis II alpha/beta"^^xsd:string ; rdfs:subClassOf obo:DOID_0080488 . obo:DOID_0080071 obo:IAO_0000115 "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T17:58:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:252600"^^xsd:string, "ORDO:577"^^xsd:string ; oboInOwl:hasExactSynonym "mucolipidosis III"@en, "pseudo-Hurler polydystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080071"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis III alpha/beta"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080488, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080072 obo:IAO_0000115 "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:28:30Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3878"^^xsd:string ; oboInOwl:hasDbXref "GARD:12744"^^xsd:string, "GARD:6789"^^xsd:string, "MESH:D007418"^^xsd:string, "NCI:C34733"^^xsd:string, "ORDO:2978"^^xsd:string, "SNOMEDCT_US_2021_03_01:715201005"^^xsd:string, "UMLS_CUI:C0021847"^^xsd:string ; oboInOwl:hasExactSynonym "Chronic intestinal pseudo-obstruction"^^xsd:string, "neuronal intestinal dysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal pseudo-obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_0080073 obo:IAO_0000115 "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:35:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016136"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080073"^^xsd:string ; a owl:Class ; rdfs:label "spina bifida occulta"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016 . obo:DOID_0080074 obo:IAO_0000115 "A physical disorder characterized by incomplete closure of the neural tube."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:41:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4016"^^xsd:string, "OMIM:301410"^^xsd:string, "OMIM:601634"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080074"^^xsd:string ; a owl:Class ; rdfs:label "neural tube defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080075 obo:IAO_0000115 "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:47:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080075"^^xsd:string ; a owl:Class ; rdfs:label "Neu-Laxova syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080076 obo:IAO_0000115 "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:47:35Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:256520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080076"^^xsd:string ; a owl:Class ; rdfs:label "Neu-Laxova syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080077 obo:IAO_0000115 "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:52:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567363"^^xsd:string, "OMIM:612286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080077"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080078 obo:IAO_0000115 "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:52:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567362"^^xsd:string, "OMIM:612287"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080078"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080079 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:13:08Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080088"^^xsd:string ; oboInOwl:hasDbXref "OMIM:161050"^^xsd:string, "ORDO:280654"^^xsd:string, "ORDO:79153"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic congenital nail disorder 10"^^xsd:string, "twenty-nail dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080079"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080080 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:149300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080080"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080081 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:151600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080081"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080082 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050643"^^xsd:string ; oboInOwl:hasDbXref "GARD:12930"^^xsd:string, "MESH:C536377"^^xsd:string, "OMIM:206800"^^xsd:string ; oboInOwl:hasExactSynonym "HYPONYCHIA CONGENITA"@en, "anonychia congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080082"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080083 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:164800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080083"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080084 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:107000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080084"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080085 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080085"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080086 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607523"^^xsd:string ; oboInOwl:hasExactSynonym "isolated toenail dystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080086"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0001705 obo:UBERON_0002387 ) ] ] . obo:DOID_0080087 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080087"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080088 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080088"^^xsd:string ; a owl:Class ; rdfs:comment "merged into type 1. [LS]"^^xsd:string ; rdfs:label "obsolete nonsyndromic congenital nail disorder 10"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080089 obo:IAO_0000115 "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:53:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3884"^^xsd:string, "OMIM:160565"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080089"^^xsd:string ; a owl:Class ; rdfs:label "tubular aggregate myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:narrowMatch "ORDO:2593"^^xsd:string . obo:DOID_0080090 obo:IAO_0000115 "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:54:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12162"^^xsd:string, "OMIM:300717"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080090"^^xsd:string ; a owl:Class ; rdfs:label "reducing body myopathy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080091 obo:IAO_0000115 "A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:57:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8711"^^xsd:string, "OMIM:182920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080091"^^xsd:string ; a owl:Class ; rdfs:label "spheroid body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080092 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110286"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601419"^^xsd:string, "ORDO:363543"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy type 2R"@en, "desminopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080092"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "myofibrillar myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080093 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:608810"^^xsd:string, "ORDO:399058"^^xsd:string ; oboInOwl:hasExactSynonym "alpha-b crystallinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080093"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080094 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110300"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609200"^^xsd:string, "ORDO:266"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy type 1A"@en, "myotilinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080094"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080095 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609452"^^xsd:string ; oboInOwl:hasExactSynonym "zaspopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080095"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080096 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609524"^^xsd:string ; oboInOwl:hasExactSynonym "filaminopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080096"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080097 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "BAG3-related myofibrillar myopathy"@en ; oboInOwl:id "DOID:0080097"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080098 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:617114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080098"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080099 obo:IAO_0000115 "A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:17:42Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:2598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080099"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_699 . obo:DOID_0080100 obo:IAO_0000115 "A myopathy that is characterized by the lack of muscle tone or floppiness at birth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:25:05Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:255300"^^xsd:string ; oboInOwl:hasExactSynonym "Batten Turner congenital myopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080100"^^xsd:string ; a owl:Class ; rdfs:label "congenital myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080101 obo:IAO_0000115 "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612540"^^xsd:string, "ORDO:210163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080101"^^xsd:string ; a owl:Class ; rdfs:label "Compton-North congenital myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080102 obo:IAO_0000115 "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:255310"^^xsd:string ; oboInOwl:hasExactSynonym "CFTD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080102"^^xsd:string ; a owl:Class ; rdfs:label "congenital fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080103 obo:IAO_0000115 "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11906"^^xsd:string, "OMIM:160990"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080103"^^xsd:string ; a owl:Class ; rdfs:label "cylindrical spirals myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080105 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:251270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080105"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080106 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080106"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080107 obo:IAO_0000115 "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616335"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080107"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080108 obo:IAO_0000115 "A myopathy that is characterized by an increased urinary excretion of myoglobin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009212"^^xsd:string, "OMIM:160010"^^xsd:string, "OMIM:268200"^^xsd:string, "OMIM:550500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080108"^^xsd:string ; a owl:Class ; rdfs:label "myoglobinuria"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080109 obo:IAO_0000115 "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:2998"^^xsd:string, "OMIM:228550"^^xsd:string, "OMIM:615293"^^xsd:string, "ORDO:2591"^^xsd:string ; oboInOwl:hasExactSynonym "lipofibromatosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080109"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "infantile myofibromatosis"@en ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_0080110 obo:IAO_0000115 "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537377"^^xsd:string, "OMIM:178110"^^xsd:string, "OMIM:253290"^^xsd:string, "OMIM:265000"^^xsd:string, "OMIM:312150"^^xsd:string, "OMIM:PS178110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080110"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "multiple pterygium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0080111 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:124000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080111"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 1"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080112 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615158"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080112"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 3"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080113 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615159"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080113"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 4"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080114 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080114"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 5"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080115 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615453"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080115"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 6"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080116 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615824"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080116"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 7"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080117 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615838"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080117"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 8"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080118 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080118"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 9"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080119 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9920"^^xsd:string, "MESH:C536350"^^xsd:string, "NCI:C11967"^^xsd:string, "OMIM:603041"^^xsd:string, "ORDO:298"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 1 (MNGIE type)"@en, "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080120 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563698"^^xsd:string, "OMIM:609560"^^xsd:string, "ORDO:254875"^^xsd:string ; oboInOwl:hasExactSynonym "TK2-related mitochondrial DNA depletion syndrome, myopathic form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080120"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080121 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:13644"^^xsd:string, "MESH:C580039"^^xsd:string, "OMIM:251880"^^xsd:string, "ORDO:279934"^^xsd:string ; oboInOwl:hasExactSynonym "deoxyguanosine kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080121"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080122 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1442"^^xsd:string ; oboInOwl:hasDbXref "GARD:5783"^^xsd:string, "ICD10CM:G31.81"^^xsd:string, "MESH:D002549"^^xsd:string, "NCI:C35257"^^xsd:string, "OMIM:203700"^^xsd:string, "ORDO:726"^^xsd:string, "SNOMEDCT_US_2021_03_01:20415001"^^xsd:string, "UMLS_CUI:C0205710"^^xsd:string ; oboInOwl:hasExactSynonym "Alper's syndrome"@en, "Alpers disease"@en, "Alpers progressive infantile poliodystrophy"@en, "Alpers syndrome"@en, "Alpers' disease or gray-matter degeneration"@en, "Diffuse Cerebral Sclerosis of Schilder"^^xsd:string, "mitochondrial DNA depletion syndrome 4a"^^xsd:string, "progressive sclerosing poliodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080122"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Alpers-Huttenlocher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:D002549"^^xsd:string . obo:DOID_0080123 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613662"^^xsd:string, "ORDO:298"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial neurogastrointestinal encephalopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080123"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 4b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080124 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567624"^^xsd:string, "MESH:C580473"^^xsd:string, "OMIM:612073"^^xsd:string ; oboInOwl:hasExactSynonym "succinate-CoA ligase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080124"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080125 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3972"^^xsd:string, "MESH:C538344"^^xsd:string, "OMIM:256810"^^xsd:string, "ORDO:255229"^^xsd:string ; oboInOwl:hasExactSynonym "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome"@en, "Navajo neurohepatopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080125"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080126 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050556"^^xsd:string ; oboInOwl:hasDbXref "GARD:4062"^^xsd:string, "MESH:C535523"^^xsd:string, "OMIM:271245"^^xsd:string ; oboInOwl:hasExactSynonym "OHAHA SYNDROME"@en, "infantile onset spinocerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080126"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080127 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:13200"^^xsd:string, "MESH:C536350"^^xsd:string, "OMIM:612075"^^xsd:string ; oboInOwl:hasExactSynonym "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080127"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 8a"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080128 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C580473"^^xsd:string, "OMIM:245400"^^xsd:string, "ORDO:17"^^xsd:string ; oboInOwl:hasExactSynonym "fatal infantile lactic acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080128"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080129 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615084"^^xsd:string, "ORDO:352447"^^xsd:string ; oboInOwl:hasExactSynonym "progressive external ophthalmoplegia-myopathy-emaciation syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080129"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 11"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080130 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129977"^^xsd:string, "OMIM:617184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 12a"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080131 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16."^^xsd:string ; oboInOwl:hasDbXref "GARD:13298"^^xsd:string, "OMIM:615471"^^xsd:string, "ORDO:369897"^^xsd:string ; oboInOwl:hasExactSynonym "FBXL4 deficiency"@en, "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome"@en, "mitochondrial DNA depletion syndrome 13, encephalomyopathic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080131"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080132 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1142"^^xsd:string, "MESH:C538280"^^xsd:string, "OMIM:212350"^^xsd:string, "ORDO:1369"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 10"@en, "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080132"^^xsd:string ; a owl:Class ; rdfs:label "Sengers syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080133 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "OMIM:605711"^^xsd:string, "ORDO:401869"^^xsd:string ; oboInOwl:hasExactSynonym "NFU1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080133"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080134 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "OMIM:614299"^^xsd:string, "ORDO:401874"^^xsd:string ; oboInOwl:hasExactSynonym "BOLA3 deficiency"@en, "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080134"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080135 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615330"^^xsd:string, "ORDO:363424"^^xsd:string ; oboInOwl:hasExactSynonym "IBA57 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080135"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080136 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616370"^^xsd:string, "ORDO:457406"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080136"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080137 obo:IAO_0000115 "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610755"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple Endocrine Neoplasia, Type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080137"^^xsd:string ; a owl:Class ; rdfs:label "multiple endocrine neoplasia type 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080138 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080138"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080139 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080466"^^xsd:string ; oboInOwl:hasDbXref "GARD:12777"^^xsd:string, "OMIM:300868"^^xsd:string, "ORDO:300496"^^xsd:string ; oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 20"^^xsd:string, "early infantile epileptic encephalopathy 20"@en, "glycosylphosphatidylinositol biosynthesis defect 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080139"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080140 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080140"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080141 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080141"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080142 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080142"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080143 obo:IAO_0000115 "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."^^xsd:string ; oboInOwl:hasDbXref "GARD:12590"^^xsd:string, "OMIM:135700"^^xsd:string, "OMIM:600638"^^xsd:string, "OMIM:602078"^^xsd:string, "OMIM:609384"^^xsd:string, "OMIM:609428"^^xsd:string, "OMIM:616219"^^xsd:string, "OMIM:PS135700"^^xsd:string ; oboInOwl:hasExactSynonym "Tukel syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080143"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1279, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080144 obo:IAO_0000115 "An acute lymphocytic leukemia occuring during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3168"^^xsd:string ; oboInOwl:hasExactSynonym "Childhood Acute Lymphoblastic Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080144"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood acute lymphocytic leukemia"@en ; rdfs:subClassOf obo:DOID_9952, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080145 obo:IAO_0000115 "A childhood acute lymphoblastic leukemia that has_material_basis in T-cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7933"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5640"^^xsd:string, "UMLS_CUI:C1332997"^^xsd:string ; oboInOwl:hasExactSynonym "T-cell childhood acute lymphocytic leukemia"^^xsd:string, "childhood precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080145"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood T-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0080144, obo:DOID_5603, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000084 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080146 obo:IAO_0000115 "A childhood acute lymphoblastic leukemia that has_material_basis in B-cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9140"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080146"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood B-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_0080144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080147 obo:IAO_0000115 "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites."^^xsd:string ; oboInOwl:hasDbXref "GARD:3329"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080147"^^xsd:string ; a owl:Class ; rdfs:label "lymphoblastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_0080148 obo:IAO_0000115 "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7210"^^xsd:string ; oboInOwl:hasExactSynonym "Childhood T lymphoblastic lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080148"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "T-cell childhood lymphoblastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0080147, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080149 obo:IAO_0000115 "An acute monocytic leukemia occurring in adults."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8263"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080149"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult acute monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8864, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080150 obo:IAO_0000115 "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535668"^^xsd:string, "OMIM:201400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080150"^^xsd:string ; a owl:Class ; rdfs:label "adrenocorticotropic hormone deficiency"@en ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_0080153 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201450"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080153"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "medium chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080154 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080154"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "short chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080155 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201475"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080155"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "very long chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080156 obo:IAO_0000115 "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:555"^^xsd:string, "OMIM:300200"^^xsd:string ; oboInOwl:hasExactSynonym "congenital adrenal hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080156"^^xsd:string ; a owl:Class ; rdfs:label "X-linked adrenal hypoplasia congenita"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10493, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080158 obo:IAO_0000115 "A keratitis that has_material_basis_in herpes simplex type infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007635"^^xsd:string, "MESH:D016849"^^xsd:string ; oboInOwl:hasExactSynonym "dendritic keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080158"^^xsd:string ; a owl:Class ; rdfs:label "herpes simplex virus keratitis"@en ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_0080159 obo:IAO_0000115 "A fungal meningitis that has_material_basis in Crypococcus fungal infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016919"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080159"^^xsd:string ; a owl:Class ; rdfs:label "Cryptococcal meningitis"@en ; rdfs:subClassOf obo:DOID_11608 . obo:DOID_0080160 obo:IAO_0000115 "A retinitis that has_material_basis_in Cytomegalovirus."^^xsd:string ; oboInOwl:hasDbXref "GARD:9531"^^xsd:string, "MESH:D017726"^^xsd:string ; oboInOwl:hasExactSynonym "CMV retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080160"^^xsd:string ; a owl:Class ; rdfs:label "Cytomegalovirus retinitis"@en ; rdfs:subClassOf obo:DOID_3612 . obo:DOID_0080161 obo:IAO_0000115 "A candidiasis that is characterized by Candida infection located_in the skin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080161"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous candidiasis"@en ; rdfs:subClassOf obo:DOID_1508, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_0080162 obo:IAO_0000115 "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus."^^xsd:string ; oboInOwl:hasDbXref "GARD:10747"^^xsd:string, "MESH:D008181"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080162"^^xsd:string ; a owl:Class ; rdfs:label "lupus nephritis"@en ; rdfs:subClassOf obo:DOID_2921, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0080163 obo:IAO_0000115 "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:13198"^^xsd:string, "OMIM:617099"^^xsd:string ; oboInOwl:hasExactSynonym "autoinflammation, panniculitis and dermatosis syndrome"@en, "otulin-related autoinflammatory syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080163"^^xsd:string ; a owl:Class ; rdfs:label "otulipenia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2914, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080164 obo:IAO_0000115 "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84270"^^xsd:string, "UMLS_CUI:C2827356"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"@en, "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080164"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1"@en ; rdfs:subClassOf obo:DOID_0070004 . obo:DOID_0080165 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84275"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080166 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84276"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRB rearrangement"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080167 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84277"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080167"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080169 obo:IAO_0000115 "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:5274"^^xsd:string, "MESH:D018785"^^xsd:string, "OMIM:605067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080169"^^xsd:string ; a owl:Class ; rdfs:label "tricuspid atresia"@en ; rdfs:subClassOf obo:DOID_0050826 . obo:DOID_0080170 obo:IAO_0000115 "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors."^^xsd:string ; oboInOwl:hasDbXref "GARD:10878"^^xsd:string, "OMIM:610455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080170"^^xsd:string ; a owl:Class ; rdfs:label "normophosphatemic familial tumoral calcinosis"@en ; rdfs:subClassOf obo:DOID_182 . obo:DOID_0080171 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing."^^xsd:string ; oboInOwl:hasDbXref "GARD:7792"^^xsd:string, "OMIM:189960"^^xsd:string ; oboInOwl:hasExactSynonym "esophageal atresia and/or tracheoesophageal fistula"@en, "tracheoesophageal fistula with or without esohageal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080171"^^xsd:string ; a owl:Class ; rdfs:label "esophageal atresia/tracheoesophageal fistula"@en ; rdfs:subClassOf obo:DOID_77 . obo:DOID_0080172 obo:IAO_0000115 "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610460"^^xsd:string ; oboInOwl:hasExactSynonym "TPMT deficiency"@en, "poor metabolism of thiopurines-1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080172"^^xsd:string ; a owl:Class ; rdfs:label "thiopurine S-methyltransferase deficiency"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080173 obo:IAO_0000115 "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258040"^^xsd:string, "ORDO:322"^^xsd:string ; oboInOwl:hasExactSynonym "exstrophy-epispadias complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080173"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bladder exstrophy-epispadias-cloacal exstrophy complex"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080174 obo:IAO_0000115 "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q64.10"^^xsd:string, "ICD9CM:753.5"^^xsd:string, "MESH:D001746"^^xsd:string, "OMIM:600057"^^xsd:string, "ORDO:93930"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080174"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bladder exstrophy"@en ; rdfs:subClassOf obo:DOID_0080173, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_0080175 obo:IAO_0000115 "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258040"^^xsd:string, "ORDO:93929"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080175"^^xsd:string ; a owl:Class ; rdfs:label "cloacal exstrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080173 . obo:DOID_0080176 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A39.0"^^xsd:string, "ICD9CM:036.0"^^xsd:string, "MESH:D008585"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080176"^^xsd:string ; a owl:Class ; rdfs:label "meningococcal meningitis"@en ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_0080177 obo:IAO_0000115 "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver."^^xsd:string ; oboInOwl:hasDbXref "GARD:13004"^^xsd:string, "ICD10CM:K76.5"^^xsd:string ; oboInOwl:hasExactSynonym "veno-occlusive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080177"^^xsd:string ; a owl:Class ; rdfs:label "hepatic veno-occlusive disease"@en ; rdfs:subClassOf obo:DOID_272 ; skos:exactMatch "MESH:D006504"^^xsd:string . obo:DOID_0080178 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract."^^xsd:string ; oboInOwl:hasDbXref "MESH:D052016"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080178"^^xsd:string ; a owl:Class ; rdfs:label "mucositis"@en ; rdfs:subClassOf obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0080179 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G00.0"^^xsd:string, "ICD9CM:320.0"^^xsd:string, "MESH:D008583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080179"^^xsd:string ; a owl:Class ; rdfs:label "haemophilus meningitis"@en ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_0080180 obo:IAO_0000115 "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero."^^xsd:string ; oboInOwl:hasExactSynonym "ZIKV congenital infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080180"^^xsd:string ; a owl:Class ; rdfs:label "Zika virus congenital syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080181 obo:IAO_0000115 "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612674"^^xsd:string, "ORDO:171848"^^xsd:string ; oboInOwl:hasExactSynonym "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080181"^^xsd:string ; a owl:Class ; rdfs:label "PHARC syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080182 obo:IAO_0000115 "A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080182"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "mixed fibrolamellar hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_5015 . obo:DOID_0080183 obo:IAO_0000115 "A colon carcinoma that is characterized by a solid growth pattern."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080183"^^xsd:string ; a owl:Class ; rdfs:label "medullary colon carcinoma"@en ; rdfs:subClassOf obo:DOID_1520 . obo:DOID_0080184 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin)."^^xsd:string ; oboInOwl:hasExactSynonym "indeterminate bronchioloalveolar carcinoma"@en, "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080184"^^xsd:string ; a owl:Class ; rdfs:label "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080185 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080185"^^xsd:string ; a owl:Class ; rdfs:label "mucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080186 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080186"^^xsd:string ; a owl:Class ; rdfs:label "nonmucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080187 obo:IAO_0000115 "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080187"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic neutrophilic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080188 obo:IAO_0000115 "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:8225"^^xsd:string, "NCI:C3178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080188"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic myelomonocytic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080189 obo:IAO_0000115 "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080189"^^xsd:string ; a owl:Class ; rdfs:label "malignant hemangioma"@en ; rdfs:subClassOf obo:DOID_1115, obo:DOID_175, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007798 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002418 ] ) ] . obo:DOID_0080190 obo:IAO_0000115 "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080190"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant epithelioid hemangioendothelioma"@en ; rdfs:subClassOf obo:DOID_0080189 . obo:DOID_0080191 obo:IAO_0000115 "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:12800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080191"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "PTEN hamartoma tumor syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080192 obo:IAO_0000115 "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080192"^^xsd:string ; a owl:Class ; rdfs:label "relapsed/refractory diffuse large B-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080193 obo:IAO_0000115 "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus."^^xsd:string ; oboInOwl:hasDbXref "ORDO:420402"^^xsd:string ; oboInOwl:hasExactSynonym "canal dehiscence syndrome"@en, "superior canal dehiscence"@en, "superior canal syndrome"@en, "superior semicircular canal dehiscence syndrome"@en, "third mobile window syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080193"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "superior semicircular canal dehiscence"@en ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_0080194 obo:IAO_0000115 "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080194"^^xsd:string ; a owl:Class ; rdfs:label "Carey-Fineman-Ziter syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080195 obo:IAO_0000115 "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."^^xsd:string ; oboInOwl:hasDbXref "GARD:8341"^^xsd:string, "OMIM:248800"^^xsd:string, "ORDO:559"^^xsd:string ; oboInOwl:hasExactSynonym "Garland-Moorhouse syndrome"@en, "Marinesco-Garland syndrome"@en, "Oligophrenic cerebellolenticular degeneration"@en, "hereditary oligophrenic cerebello-lental degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080195"^^xsd:string ; a owl:Class ; rdfs:label "Marinesco-Sjogren syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080196 obo:IAO_0000115 "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia."^^xsd:string ; oboInOwl:hasDbXref "GARD:10056"^^xsd:string, "OMIM:610536"^^xsd:string, "ORDO:79113"^^xsd:string ; oboInOwl:hasExactSynonym "MFDM syndrome"@en, "mandibulofacial dysostosis with microcephaly"@en, "mandibulofacial dysostosis-microcephaly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080196"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mandibulofacial dysostosis, Guion-Almeida type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080197 obo:IAO_0000115 "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080197"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy with cataracts and intellectual disability"@en ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080198 obo:IAO_0000115 "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b."^^xsd:string ; oboInOwl:hasDbXref "GARD:9511"^^xsd:string, "OMIM:500000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080198"^^xsd:string ; a owl:Class ; rdfs:label "infantile histiocytoid cardiomyopathy"@en ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060036, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0080199 obo:IAO_0000115 "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa."^^xsd:string ; oboInOwl:hasDbXref "EFO:1001951"^^xsd:string, "MESH:D015179"^^xsd:string, "NCI:C2955"^^xsd:string, "UMLS_CUI:C0009402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080199"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colorectal carcinoma"@en ; rdfs:subClassOf obo:DOID_305, obo:DOID_9256, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0080200 obo:IAO_0000115 "A renal agenesis that is characterized by the absence of both kidneys at birth."^^xsd:string ; oboInOwl:hasDbXref "ORDO:1848"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080200"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bilateral renal aplasia"@en ; rdfs:subClassOf obo:DOID_14766 ; owl:disjointWith obo:DOID_12594 . obo:DOID_0080201 obo:IAO_0000115 "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070312"^^xsd:string ; oboInOwl:hasDbXref "GARD:8422"^^xsd:string, "OMIM:261540"^^xsd:string ; oboInOwl:hasExactSynonym "Krause-Kivlin syndrome"@en, "Peters anomaly-short limb dwarfism syndrome"@en, "Peters-plus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080201"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Peters plus syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080202 obo:IAO_0000115 "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:5743"^^xsd:string, "MESH:D003528"^^xsd:string, "NCI:C2970"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenoid cystic carcinoma"@en ; rdfs:subClassOf obo:DOID_305, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001732 ] . obo:DOID_0080204 obo:IAO_0000115 "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons."^^xsd:string ; oboInOwl:hasDbXref "ORDO:93101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080204"^^xsd:string ; a owl:Class ; rdfs:label "renal hypoplasia"@en ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0080205 obo:IAO_0000115 "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS610805"^^xsd:string, "ORDO:93545"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract"@en, "Renal or urinary tract malformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080205"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT"@en ; rdfs:subClassOf obo:DOID_18 . obo:DOID_0080206 obo:IAO_0000115 "A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610805"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080206"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT1"@en ; rdfs:subClassOf obo:DOID_0080205 . obo:DOID_0080207 obo:IAO_0000115 "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:143400"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080207"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT2"@en ; rdfs:subClassOf obo:DOID_0080205 . obo:DOID_0080208 obo:IAO_0000115 "A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613282"^^xsd:string, "OMIM:613387"^^xsd:string ; oboInOwl:hasExactSynonym "NAFLD"@en, "non-alcoholic fatty liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080208"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic fatty liver disease"@en ; rdfs:subClassOf obo:DOID_9452 . obo:DOID_0080209 obo:IAO_0000115 "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616084"^^xsd:string ; oboInOwl:hasExactSynonym "SIFD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080209"^^xsd:string ; a owl:Class ; rdfs:label "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080210 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C85.2"^^xsd:string, "ORDO:98838"^^xsd:string ; oboInOwl:hasExactSynonym "Large cell lymphoma of the mediastinum"@en, "Mediastinal diffuse large-cell lymphoma with sclerosis"@en, "Primary mediastinal clear cell lymphoma of B-cell type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080210"^^xsd:string ; a owl:Class ; rdfs:label "primary mediastinal B-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080211 obo:IAO_0000115 "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8863"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodal marginal zone lymphoma"@en ; rdfs:subClassOf obo:DOID_0050748 . obo:DOID_0080212 obo:IAO_0000115 "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:263200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080212"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 4"@en ; rdfs:subClassOf obo:DOID_0110861 . obo:DOID_0080213 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:4439"^^xsd:string, "OMIM:175860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080213"^^xsd:string ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type II"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080214 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles."^^xsd:string ; oboInOwl:hasDbXref "OMIM:148600"^^xsd:string, "OMIM:614936"^^xsd:string ; oboInOwl:hasExactSynonym "punctate palmoplantar keratoderma type 1A"^^xsd:string, "punctate palmoplantar keratoderma type 1B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080214"^^xsd:string ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type I"@en ; rdfs:subClassOf obo:DOID_0060361 . obo:DOID_0080215 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300607"^^xsd:string ; oboInOwl:hasExactSynonym "DEE8"^^xsd:string, "EIEE8"^^xsd:string, "early infantile epileptic encephalopathy 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080215"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 8"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080216 obo:IAO_0000115 "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum."^^xsd:string ; oboInOwl:hasDbXref "GARD:54"^^xsd:string, "MESH:C535720"^^xsd:string, "OMIM:223400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080216"^^xsd:string ; a owl:Class ; rdfs:label "duodenal atresia"@en ; rdfs:subClassOf obo:DOID_10486 . obo:DOID_0080217 obo:IAO_0000115 "A lipid storage disease characterized by lysosomal and lipase deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080217"^^xsd:string ; a owl:Class ; rdfs:label "lysosomal and lipase deficiency"@en ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0080218 obo:IAO_0000115 "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung."^^xsd:string ; oboInOwl:hasDbXref "GARD:4997"^^xsd:string, "OMIM:173600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080218"^^xsd:string ; a owl:Class ; rdfs:label "primary spontaneous pneumothorax"@en ; rdfs:subClassOf obo:DOID_1673 . obo:DOID_0080219 obo:IAO_0000115 "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145680"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080219"^^xsd:string ; a owl:Class ; rdfs:label "dystransthyretinemic hyperthyroxinemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2855, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080220 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080220"^^xsd:string ; a owl:Class ; rdfs:label "obsolete major affective disorder 1"@en ; owl:deprecated true . obo:DOID_0080221 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080221"^^xsd:string ; a owl:Class ; rdfs:label "obsolete major affective disorder 2"@en ; owl:deprecated true . obo:DOID_0080222 obo:IAO_0000115 "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10680"^^xsd:string, "MESH:C548075"^^xsd:string, "OMIM:603233"^^xsd:string, "ORDO:94089"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080222"^^xsd:string ; a owl:Class ; rdfs:label "pseudohypoparathyroidism type IB"@en ; rdfs:subClassOf obo:DOID_4184 . obo:DOID_0080223 obo:IAO_0000115 "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles."^^xsd:string ; oboInOwl:hasDbXref "GARD:2826"^^xsd:string, "OMIM:144200"^^xsd:string, "ORDO:2199"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080223"^^xsd:string ; a owl:Class ; rdfs:label "epidermolytic palmoplantar keratoderma"@en ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0080224 obo:IAO_0000115 "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."^^xsd:string ; oboInOwl:hasDbXref "GARD:2139"^^xsd:string, "OMIM:131750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080224"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dystrophic epidermolysis bullosa"@en ; rdfs:subClassOf obo:DOID_4959 . obo:DOID_0080225 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080225"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 23"@en ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0080226 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080226"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 56"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080227 obo:IAO_0000115 "A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080227"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 55"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080228 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617798"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080228"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 53"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080229 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080229"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant mental retardation 61"^^xsd:string ; owl:deprecated true . obo:DOID_0080230 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080230"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 54"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080231 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617796"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080231"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 52"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080232 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080232"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 51"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080233 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617787"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080233"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 50"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080234 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:13584"^^xsd:string, "OMIM:617752"^^xsd:string ; oboInOwl:hasExactSynonym "Baraitser syndrome"^^xsd:string, "CLABARS"^^xsd:string, "autosomal dominant intellectual disability 49"^^xsd:string, "autosomal dominant mental retardation 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080234"^^xsd:string ; a owl:Class ; rdfs:label "Clark-Baraitser syndrome"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080235 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617751"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080235"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 48"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080236 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080236"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 45"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080237 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617601"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080237"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 46"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080238 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617635"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080238"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 47"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080239 obo:IAO_0000115 "An autosomal recessive non-syndromic intellectual disability that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080229"^^xsd:string ; oboInOwl:hasDbXref "OMIM:617773"^^xsd:string ; oboInOwl:hasExactSynonym "Alwadei syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080239"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive mental retardation 61"@en ; rdfs:subClassOf obo:DOID_0060308 . obo:DOID_0080240 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300997"^^xsd:string ; oboInOwl:hasExactSynonym "MRX106"^^xsd:string, "X-linked mental retardation 106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080240"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 106"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0080241 obo:IAO_0000115 "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300998"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080241"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked mental retardation 35"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080242 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080242"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked mental retardation Hough type"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080243 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617607"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080243"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3B"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080244 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080244"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080245 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617729"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080245"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080246 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080246"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080247 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617731"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080247"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 5"@en ; rdfs:subClassOf obo:DOID_0080694 . obo:DOID_0080248 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080248"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 2"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080249 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617525"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080249"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 3"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080250 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080250"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 4"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080251 obo:IAO_0000115 "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080251"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 5"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080252 obo:IAO_0000115 "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617560"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080252"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080253 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617562"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080253"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050778, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080254 obo:IAO_0000115 "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617563"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080254"^^xsd:string ; a owl:Class ; rdfs:label "orofaciodigital syndrome XVI"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080255 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617564"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080255"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080256 obo:IAO_0000115 "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617565"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080256"^^xsd:string ; a owl:Class ; rdfs:label "Perrault syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050857, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080257 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617574"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080257"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 13"@en ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080258 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080258"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 14"@en ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080259 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617584"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080259"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 25"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080260 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617633"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080260"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 26"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080261 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080261"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 106"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080262 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080262"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 107"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080263 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617654"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080263"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 108"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080264 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in CTNNB1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617572"^^xsd:string ; oboInOwl:hasExactSynonym "EVR7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080264"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 7"@en ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080265 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080265"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080266 obo:IAO_0000115 "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617577"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080266"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 37"@en ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0080267 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617605"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080267"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 71"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080268 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617606"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080268"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 72"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080269 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617663"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080269"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 73"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080270 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080270"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 34"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080271 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617609"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080271"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080272 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617783"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080272"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 16"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080273 obo:IAO_0000115 "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080273"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 5"@en ; rdfs:subClassOf obo:DOID_0110861 . obo:DOID_0080274 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080274"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080275 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080275"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 30"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080276 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080276"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS]"^^xsd:string ; rdfs:label "Joubert syndrome 29"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080277 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080277"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 31"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080278 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080278"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 32"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080279 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617767"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080279"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 33"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080280 obo:IAO_0000115 "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617626"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080280"^^xsd:string ; a owl:Class ; rdfs:label "gingival fibromatosis 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060466, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080281 obo:IAO_0000115 "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080281"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 19"@en ; rdfs:subClassOf obo:DOID_5419 . obo:DOID_0080282 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617665"^^xsd:string ; oboInOwl:hasExactSynonym "DEE56"^^xsd:string, "early infantile epileptic encephalopathy 56"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080282"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 56"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080283 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617599"^^xsd:string ; oboInOwl:hasExactSynonym "DEE55"^^xsd:string, "GPIBD14"^^xsd:string, "early infantile epileptic encephalopathy 55"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080283"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 55"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080284 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617771"^^xsd:string ; oboInOwl:hasExactSynonym "DEE57"^^xsd:string, "early infantile epileptic encephalopathy 57"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080284"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 57"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080285 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617830"^^xsd:string ; oboInOwl:hasExactSynonym "DEE58"^^xsd:string, "early infantile epileptic encephalopathy 58"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080285"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 58"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080286 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080286"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 44"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080287 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617769"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080287"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 45"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080288 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617770"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080288"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 46"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080289 obo:IAO_0000115 "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617926"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080289"^^xsd:string ; a owl:Class ; rdfs:label "orofaciodigital syndrome XVII"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080290 obo:IAO_0000115 "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617907"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080290"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080291 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617904"^^xsd:string ; oboInOwl:hasExactSynonym "DEE59"^^xsd:string, "early infantile epileptic encephalopathy 59"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080291"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 59"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080292 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080292"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 81"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080293 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617866"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080293"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 18 with polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080294 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080294"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate G"@en ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080295 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617895"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080295"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 19 with or without polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080296 obo:IAO_0000115 "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617899"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080296"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080297 obo:IAO_0000115 """A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:617808"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080297"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 6"@en ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0080298 obo:IAO_0000115 "A lipodystrophy that is characterized by complete loss of adipose tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080298"^^xsd:string ; a owl:Class ; rdfs:label "complete generalized lipodystrophy"@en ; rdfs:subClassOf obo:DOID_811 . obo:DOID_0080299 obo:IAO_0000115 "A lipodystrophy that is characterized by partial loss of adipose tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080299"^^xsd:string ; a owl:Class ; rdfs:label "partial lipodystrophy"@en ; rdfs:subClassOf obo:DOID_811 . obo:DOID_0080300 obo:IAO_0000115 "A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth."^^xsd:string ; oboInOwl:hasExactSynonym "Lawrence syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080300"^^xsd:string ; a owl:Class ; rdfs:label "acquired generalized lipodystrophy"@en ; rdfs:subClassOf obo:DOID_0080298 . obo:DOID_0080301 obo:IAO_0000115 "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:8702"^^xsd:string, "ORDO:2134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080301"^^xsd:string ; a owl:Class ; rdfs:label "atypical hemolytic-uremic syndrome"@en ; rdfs:subClassOf obo:DOID_626 ; skos:exactMatch "MESH:D065766"^^xsd:string . obo:DOID_0080302 obo:IAO_0000115 "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012891"^^xsd:string, "SNOMEDCT_US_2021_03_01:230493001"^^xsd:string, "UMLS_CUI:C0338495"^^xsd:string ; oboInOwl:hasExactSynonym "complex sleep apnea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080302"^^xsd:string ; a owl:Class ; rdfs:label "mixed sleep apnea"@en ; rdfs:subClassOf obo:DOID_0050847 . obo:DOID_0080303 obo:IAO_0000115 "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080303"^^xsd:string ; a owl:Class ; rdfs:label "mucinous lung adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3910, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080304 obo:IAO_0000115 "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080304"^^xsd:string ; a owl:Class ; rdfs:label "lung mucinous cystadenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3910, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_0080305 obo:IAO_0000115 "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080305"^^xsd:string ; a owl:Class ; rdfs:label "signet ring lung adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_0080306 obo:IAO_0000115 "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080306"^^xsd:string ; a owl:Class ; rdfs:label "solid adenocarcinoma with mucin production"@en ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_0080307 obo:IAO_0000115 "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles."^^xsd:string ; oboInOwl:hasDbXref "GARD:10529"^^xsd:string, "MESH:C580316"^^xsd:string, "OMIM:PS601419"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080307"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy"@en ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080308 obo:IAO_0000115 "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617258"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080308"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080309 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613869"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080309"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile hypertonic myofibrillar myopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080311 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080311"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080312 obo:IAO_0000115 "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617523"^^xsd:string ; oboInOwl:hasExactSynonym "NEDMHM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080312"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with midbrain and hindbrain malformations"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080313 obo:IAO_0000115 "A physical disorder that is characterized by fusion of maxilla and mandible."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563047"^^xsd:string, "OMIM:119550"^^xsd:string, "ORDO:2016"^^xsd:string, "SNOMEDCT_US_2021_03_01:403772000"^^xsd:string, "UMLS_CUI:C0795898"^^xsd:string ; oboInOwl:hasExactSynonym "CPLS syndrome"@en, "syngnathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080313"^^xsd:string ; a owl:Class ; rdfs:label "cleft palate-lateral synechia syndrome"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080314 obo:IAO_0000115 "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in GUCA1A on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566579"^^xsd:string, "OMIM:602093"^^xsd:string, "UMLS_CUI:C1838190"^^xsd:string, "UMLS_CUI:C1865869"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080314"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 14"@en ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0080315 obo:IAO_0000115 "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline."^^xsd:string ; oboInOwl:hasDbXref "GARD:3445"^^xsd:string, "MESH:C536141"^^xsd:string, "OMIM:PS604004"^^xsd:string, "ORDO:2478"^^xsd:string, "SNOMEDCT_US_2021_03_01:703536004"^^xsd:string, "UMLS_CUI:C1858854"^^xsd:string ; oboInOwl:hasExactSynonym "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome"@en, "vacuolating megalencephalic leukoencephalopathy with subcortical cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080315"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts"@en ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0080316 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536141"^^xsd:string, "OMIM:604004"^^xsd:string, "SNOMEDCT_US_2019_09_01:703536004"^^xsd:string ; oboInOwl:hasExactSynonym "Van Der Knaap disease"@en, "leukoencephalopathy with swelling and cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080316"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080317 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613926"^^xsd:string ; oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080317"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2B"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080318 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613925"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080318"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080319 obo:IAO_0000115 "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300853"^^xsd:string ; oboInOwl:hasExactSynonym "XMEN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080319"^^xsd:string ; a owl:Class ; rdfs:label "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080320 obo:IAO_0000115 "A central nervous system benign neoplasm the is located_in the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080320"^^xsd:string ; a owl:Class ; rdfs:label "peripheral nervous system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_0080321 obo:IAO_0000115 "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080321"^^xsd:string ; a owl:Class ; rdfs:label "autonomic nervous system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080320 . obo:DOID_0080322 obo:IAO_0000115 "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS173900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080322"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease"@en ; rdfs:subClassOf obo:DOID_2975 . obo:DOID_0080323 obo:IAO_0000115 "A squamous cell carcinoma located in the pancreas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080323"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic squamous cell carcinoma"@en ; rdfs:subClassOf obo:DOID_1749, obo:DOID_1793, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] . obo:DOID_0080324 obo:IAO_0000115 "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:191100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080324"^^xsd:string ; a owl:Class ; rdfs:label "tuberous sclerosis 1"@en ; rdfs:subClassOf obo:DOID_13515 . obo:DOID_0080325 obo:IAO_0000115 "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080325"^^xsd:string ; a owl:Class ; rdfs:label "tuberous sclerosis 2"@en ; rdfs:subClassOf obo:DOID_13515 . obo:DOID_0080326 obo:IAO_0000115 "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS192600"^^xsd:string, "ORDO:217569"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080326"^^xsd:string ; a owl:Class ; rdfs:label "familial hypertrophic cardiomyopathy"@en ; rdfs:subClassOf obo:DOID_11984 . obo:DOID_0080327 obo:IAO_0000115 "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236500"^^xsd:string ; oboInOwl:hasExactSynonym "MARCH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080327"^^xsd:string ; a owl:Class ; rdfs:label "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080328 obo:IAO_0000115 "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."^^xsd:string ; oboInOwl:hasDbXref "GARD:13349"^^xsd:string, "OMIM:615849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080328"^^xsd:string ; a owl:Class ; rdfs:label "Culler-Jones syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080329 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention."^^xsd:string ; oboInOwl:hasDbXref "OMIM:272430"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080329"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080330 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610313"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080330"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080331 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080331"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 3"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080332 obo:IAO_0000115 "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS109730"^^xsd:string, "ORDO:402075"^^xsd:string ; oboInOwl:hasExactSynonym "Familial bicuspid aortic valve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080332"^^xsd:string ; a owl:Class ; rdfs:label "bicuspid aortic valve disease"@en ; rdfs:subClassOf obo:DOID_62 . obo:DOID_0080333 obo:IAO_0000115 "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:109730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080333"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080334 obo:IAO_0000115 "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614823"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080334"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080335 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:1142"^^xsd:string, "NCI:C129977"^^xsd:string, "OMIM:615418"^^xsd:string, "ORDO:1369"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 12b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080336 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616896"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080336"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 14"@en ; rdfs:subClassOf obo:DOID_0070329 . obo:DOID_0080337 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080337"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080338 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609820"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080338"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080339 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611783"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080339"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 4"@en ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0080340 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked dominant disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080341 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080341"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked recessive disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080342 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080342"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Simpson-Golabi-Behmel syndrome type 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080343 obo:IAO_0000115 "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080343"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080344 obo:IAO_0000115 "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS119580"^^xsd:string ; oboInOwl:hasExactSynonym "Blepharo-cheilo-odontic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080344"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080345 obo:IAO_0000115 "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:119580"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080345"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome 1"@en ; rdfs:subClassOf obo:DOID_0080344 . obo:DOID_0080346 obo:IAO_0000115 "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080346"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080344 . obo:DOID_0080347 obo:IAO_0000115 "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M8700/3"^^xsd:string ; oboInOwl:hasExactSynonym "Pheochromocytoma, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080347"^^xsd:string ; a owl:Class ; rdfs:label "malignant pheochromocytoma"@en ; rdfs:subClassOf obo:DOID_5719 . obo:DOID_0080348 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in mutation in the gene encoding the amyloid precursor protein on chromosome 21q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:104300"^^xsd:string ; oboInOwl:hasExactSynonym "Alzheimer's disease 1, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080348"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080349 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080423"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612949"^^xsd:string, "ORDO:353217"^^xsd:string ; oboInOwl:hasExactSynonym "AGC1 deficiency"@en, "early infantile epileptic encephalopathy 39"^^xsd:string, "epileptic encephalopathy with global cerebral demyelination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080349"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 39"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080350 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:617304"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080350"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 77"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080351 obo:IAO_0000115 "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10939"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "OMIM:612918"^^xsd:string, "ORDO:140944"^^xsd:string ; oboInOwl:hasExactSynonym "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080351"^^xsd:string ; a owl:Class ; rdfs:label "CLOVES syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080352 obo:IAO_0000115 "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:302960"^^xsd:string ; oboInOwl:hasExactSynonym "Conradi-Hunermann Syndrome"@en, "Happle syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080352"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chondrodysplasia punctata 2"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080353 obo:IAO_0000115 "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300554"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080353"^^xsd:string ; a owl:Class ; rdfs:label "X-linked recessive hypophosphatemic rickets"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080354 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development."^^xsd:string ; oboInOwl:hasDbXref "GARD:10130"^^xsd:string, "OMIM:606232"^^xsd:string, "ORDO:48652"^^xsd:string ; oboInOwl:hasExactSynonym "22q13.3 deletion syndrome"@en, "monosomy 22q13 syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080354"^^xsd:string ; a owl:Class ; rdfs:label "Phelan-McDermid syndrome"@en ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0080355 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the hepatobiliary system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080355"^^xsd:string ; a owl:Class ; rdfs:label "hepatobiliary system cancer"@en ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0080356 obo:IAO_0000115 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:12521"^^xsd:string, "ORDO:284264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080356"^^xsd:string ; a owl:Class ; rdfs:label "IgG4-related disease"@en ; rdfs:subClassOf obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] . obo:DOID_0080357 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604377"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080357"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080358 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615119"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080358"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080359 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080359"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080360 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616501"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080360"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080361 obo:IAO_0000115 "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:6447"^^xsd:string, "MESH:C536561"^^xsd:string, "OMIM:602079"^^xsd:string, "ORDO:468726"^^xsd:string ; oboInOwl:hasExactSynonym "fish-odor syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080361"^^xsd:string ; a owl:Class ; rdfs:label "trimethylaminuria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080362 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:313400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080362"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spondyloepiphyseal dysplasia tarda"@en ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_0080012, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080363 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614741"^^xsd:string, "ORDO:447784"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080363"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial pyruvate carrier deficiency"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080364 obo:IAO_0000115 "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080364"^^xsd:string ; a owl:Class ; rdfs:label "malignant adenoma"@en ; rdfs:subClassOf obo:DOID_0050687 . obo:DOID_0080365 obo:IAO_0000115 "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004714"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080365"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "endometrial hyperplasia"@en ; rdfs:subClassOf obo:DOID_0060095 . obo:DOID_0080366 obo:IAO_0000115 "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080366"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "desmoid tumor"@en ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_0080367 obo:IAO_0000115 "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4563"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080367"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "chronic eosinophilic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080368 obo:IAO_0000115 "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080368"^^xsd:string ; a owl:Class ; rdfs:label "sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0050622 . obo:DOID_0080369 obo:IAO_0000115 "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080369"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian sex-cord stromal tumor"@en ; rdfs:subClassOf obo:DOID_192 . obo:DOID_0080370 obo:IAO_0000115 "A sex cord-stromal benign neoplasm that arises from the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6803"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080370"^^xsd:string ; a owl:Class ; rdfs:label "ovarian sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080368 . obo:DOID_0080371 obo:IAO_0000115 "A sex cord-stromal benign neoplasm that arises from the testis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080371"^^xsd:string ; a owl:Class ; rdfs:label "testicular sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080368 . obo:DOID_0080372 obo:IAO_0000115 "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080372"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "epithelioid inflammatory myofibroblastic sarcoma"@en ; rdfs:subClassOf obo:DOID_0050905 . obo:DOID_0080373 obo:IAO_0000115 "A male reproductive system disease that is located_in the epididymis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080373"^^xsd:string ; a owl:Class ; rdfs:label "epididymis disease"@en ; rdfs:subClassOf obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] ) ] . obo:DOID_0080374 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080374"^^xsd:string ; a owl:Class ; rdfs:label "gastroesophageal cancer"@en ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0080375 obo:IAO_0000115 "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."^^xsd:string ; oboInOwl:hasExactSynonym "gastric and esophageal adenocarcinoma"@en, "gastro-esophageal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080375"^^xsd:string ; a owl:Class ; rdfs:label "gastroesophageal adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_0080374, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0080376 obo:IAO_0000115 "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190351"^^xsd:string ; oboInOwl:hasExactSynonym "trichorhinophalangeal syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080376"^^xsd:string ; a owl:Class ; rdfs:label "trichorhinophalangeal syndrome type III"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080377 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080378"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS214100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080377"^^xsd:string ; a owl:Class ; rdfs:label "peroxisomal biogenesis disorder"@en ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0080378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080378"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Zellweger spectrum disorder"@en ; owl:deprecated true . obo:DOID_0080379 obo:IAO_0000115 "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600995"^^xsd:string ; oboInOwl:hasExactSynonym "steroid-resistant autosomal recessive nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080379"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080380 obo:IAO_0000115 "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614199"^^xsd:string ; oboInOwl:hasExactSynonym "nephrotic syndrome type 5, with or without ocular abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080380"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080381 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616893"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080381"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080382 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610725"^^xsd:string ; oboInOwl:hasExactSynonym "early onset nephrotic syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080382"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080383 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080383"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080384 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080384"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080385 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080385"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080386 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615861"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080386"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080387 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080387"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080388 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615008"^^xsd:string, "ORDO:329903"^^xsd:string ; oboInOwl:hasExactSynonym "Ig-mediated MPGN"@en, "Ig-mediated membranoproliferative glomerulonephritis"@en, "Immunoglobulin-mediated MPGN"@en, "immunoglobulin-mediated membranoproliferative glomerulonephritis"@en, "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080388"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080389 obo:IAO_0000115 "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615244"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080389"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080390 obo:IAO_0000115 "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1500"^^xsd:string, "MEDDRA:10060740"^^xsd:string, "NCI:C122795"^^xsd:string, "OMIM:256300"^^xsd:string, "ORDO:839"^^xsd:string, "SNOMEDCT_US_2021_03_01:197601003"^^xsd:string, "UMLS_CUI:C0403399"^^xsd:string ; oboInOwl:hasExactSynonym "Finnish congenital nephrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080390"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080391 obo:IAO_0000115 "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080391"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080392 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080392"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080393 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080393"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080394 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080394"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080395 obo:IAO_0000115 "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:119530"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080395"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080396 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602966"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080396"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080397 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600757"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080397"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080398 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608371"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080398"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080399 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608874"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080399"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080400 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasExactSynonym "Zlotogora-Ogur syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080400"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:C563464"^^xsd:string . obo:DOID_0080401 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080401"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080402 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610361"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080402"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080403 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613705"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080403"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080404 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600625"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080404"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080405 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612858"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080405"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080406 obo:IAO_0000115 "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613857"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080406"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080407 obo:IAO_0000115 "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080407"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080408 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080408"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080409 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080409"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080410 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D12.6"^^xsd:string, "OMIM:608456"^^xsd:string, "ORDO:247798"^^xsd:string ; oboInOwl:hasExactSynonym "MUTYH-related attenuated FAP"@en, "MUTYH-related attenuated familial adenomatous polyposis"@en, "MUTYH-related attenuated familial polyposis coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080410"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080411 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616415"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080411"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080412 obo:IAO_0000115 "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080412"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080413 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:13676"^^xsd:string, "OMIM:615476"^^xsd:string ; oboInOwl:hasExactSynonym "DEE18"^^xsd:string, "early infantile epileptic encephalopathy 18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080413"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080414 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615006"^^xsd:string ; oboInOwl:hasExactSynonym "DEE15"^^xsd:string, "early infantile epileptic encephalopathy 15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080414"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080415 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615859"^^xsd:string, "ORDO:411986"^^xsd:string ; oboInOwl:hasExactSynonym "DEE23"^^xsd:string, "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"@en, "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"@en, "early infantile epileptic encephalopathy 23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080415"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080416 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616366"^^xsd:string ; oboInOwl:hasExactSynonym "DEE32"^^xsd:string, "early infantile epileptic encephalopathy 32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080416"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080417 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617020"^^xsd:string ; oboInOwl:hasExactSynonym "DEE38"^^xsd:string, "early infantile epileptic encephalopathy 38"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080417"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080418 obo:IAO_0000115 "A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617391"^^xsd:string ; oboInOwl:hasExactSynonym "DEE54"^^xsd:string, "early infantile epileptic encephalopathy 54"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080418"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080419 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:13621"^^xsd:string, "OMIM:616457"^^xsd:string, "ORDO:448010"^^xsd:string ; oboInOwl:hasExactSynonym "CDG syndrome type Iz"@en, "CDG-Iz"@en, "Carbohydrate deficient glycoprotein syndrome type Iz"@en, "Congenital disorder of glycosylation type 1z"@en, "DEE50"^^xsd:string, "early infantile epileptic encephalopathy 50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080419"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080420 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617938"^^xsd:string ; oboInOwl:hasExactSynonym "DEE62"^^xsd:string, "early infantile epileptic encephalopathy 62"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080420"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080421 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613721"^^xsd:string ; oboInOwl:hasExactSynonym "DEE11"^^xsd:string, "early infantile epileptic encephalopathy 11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080421"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080422 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060171"^^xsd:string ; oboInOwl:hasDbXref "GARD:10430"^^xsd:string, "OMIM:607208"^^xsd:string, "ORDO:33069"^^xsd:string ; oboInOwl:hasExactSynonym "DEE6"^^xsd:string, "developmental and epileptic encephalopathy 6"^^xsd:string, "early infantile epileptic encephalopathy 6"@en, "severe myoclonic epilepsy of infancy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080422"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Dravet syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080423 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete early infantile epileptic encephalopathy 39"^^xsd:string ; owl:deprecated true . obo:DOID_0080424 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617132"^^xsd:string ; oboInOwl:hasExactSynonym "DEE44"^^xsd:string, "early infantile epileptic encephalopathy 44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080424"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080425 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617166"^^xsd:string ; oboInOwl:hasExactSynonym "DEE47"^^xsd:string, "early infantile epileptic encephalopathy 47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080425"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080426 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617976"^^xsd:string ; oboInOwl:hasExactSynonym "DEE63"^^xsd:string, "early infantile epileptic encephalopathy 63"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080426"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080427 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617065"^^xsd:string ; oboInOwl:hasExactSynonym "DEE40"^^xsd:string, "early infantile epileptic encephalopathy 40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080427"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080428 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617153"^^xsd:string ; oboInOwl:hasExactSynonym "DEE45"^^xsd:string, "early infantile epileptic encephalopathy 45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080428"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080429 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615871"^^xsd:string ; oboInOwl:hasExactSynonym "DEE24"^^xsd:string, "early infantile epileptic encephalopathy 24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080429"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080430 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618008"^^xsd:string ; oboInOwl:hasExactSynonym "DEE65"^^xsd:string, "early infantile epileptic encephalopathy 65"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080430"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080431 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615744"^^xsd:string ; oboInOwl:hasExactSynonym "DEE19"^^xsd:string, "early infantile epileptic encephalopathy 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080431"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080432 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617929"^^xsd:string ; oboInOwl:hasExactSynonym "DEE60"^^xsd:string, "early infantile epileptic encephalopathy 60"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080432"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080433 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617339"^^xsd:string ; oboInOwl:hasExactSynonym "DEE51"^^xsd:string, "early infantile epileptic encephalopathy 51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080433"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080434 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617933"^^xsd:string ; oboInOwl:hasExactSynonym "DEE61"^^xsd:string, "early infantile epileptic encephalopathy 61"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080434"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080435 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616981"^^xsd:string ; oboInOwl:hasExactSynonym "DEE37"^^xsd:string, "early infantile epileptic encephalopathy 37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080435"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080436 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612164"^^xsd:string ; oboInOwl:hasExactSynonym "DEE4"^^xsd:string, "early infantile epileptic encephalopathy 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080436"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080437 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616346"^^xsd:string ; oboInOwl:hasExactSynonym "DEE31"^^xsd:string, "early infantile epileptic encephalopathy 31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080437"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080438 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613477"^^xsd:string ; oboInOwl:hasExactSynonym "DEE5"^^xsd:string, "early infantile epileptic encephalopathy 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080438"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080439 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614959"^^xsd:string ; oboInOwl:hasExactSynonym "DEE14"^^xsd:string, "early infantile epileptic encephalopathy 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080439"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080440 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609304"^^xsd:string ; oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080440"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080441 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617281"^^xsd:string ; oboInOwl:hasExactSynonym "DEE49"^^xsd:string, "early infantile epileptic encephalopathy 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080441"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080442 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617105"^^xsd:string ; oboInOwl:hasExactSynonym "DEE41"^^xsd:string, "early infantile epileptic encephalopathy 41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080442"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080443 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615833"^^xsd:string ; oboInOwl:hasExactSynonym "DEE21"^^xsd:string, "early infantile epileptic encephalopathy 21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080443"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080444 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616139"^^xsd:string ; oboInOwl:hasExactSynonym "DEE27"^^xsd:string, "early infantile epileptic encephalopathy 27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080444"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080445 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614558"^^xsd:string ; oboInOwl:hasExactSynonym "DEE13"^^xsd:string, "early infantile epileptic encephalopathy 13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080445"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080446 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618067"^^xsd:string ; oboInOwl:hasExactSynonym "DEE66"^^xsd:string, "early infantile epileptic encephalopathy 66"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080446"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080447 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617113"^^xsd:string ; oboInOwl:hasExactSynonym "DEE43"^^xsd:string, "early infantile epileptic encephalopathy 43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080447"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080448 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617276"^^xsd:string ; oboInOwl:hasExactSynonym "DEE48"^^xsd:string, "early infantile epileptic encephalopathy 48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080448"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080449 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615338"^^xsd:string, "ORDO:352596"^^xsd:string ; oboInOwl:hasExactSynonym "DEE16"^^xsd:string, "early infantile epileptic encephalopathy 16"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080449"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080450 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615473"^^xsd:string ; oboInOwl:hasExactSynonym "DEE17"^^xsd:string, "early infantile epileptic encephalopathy 17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080450"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080451 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616339"^^xsd:string ; oboInOwl:hasExactSynonym "DEE29"^^xsd:string, "early infantile epileptic encephalopathy 29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080451"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080452 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616211"^^xsd:string ; oboInOwl:hasExactSynonym "DEE28"^^xsd:string, "early infantile epileptic encephalopathy 28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080452"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080453 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12901"^^xsd:string, "OMIM:615905"^^xsd:string ; oboInOwl:hasExactSynonym "DEE25"^^xsd:string, "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta"^^xsd:string, "early infantile epileptic encephalopathy 25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080453"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080454 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617106"^^xsd:string ; oboInOwl:hasExactSynonym "DEE42"^^xsd:string, "early infantile epileptic encephalopathy 42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080454"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080455 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617350"^^xsd:string ; oboInOwl:hasExactSynonym "DEE52"^^xsd:string, "early infantile epileptic encephalopathy 52"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080455"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080456 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617162"^^xsd:string ; oboInOwl:hasExactSynonym "DEE46"^^xsd:string, "early infantile epileptic encephalopathy 46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080456"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080457 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613402"^^xsd:string ; oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 10"^^xsd:string, "early infantile epileptic encephalopathy 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080457"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly, seizures, and developmental delay"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080458 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616647"^^xsd:string, "ORDO:457375"^^xsd:string ; oboInOwl:hasExactSynonym "DEE35"^^xsd:string, "ITPA-related encephalopathy"@en, "early infantile epileptic encephalopathy 35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080458"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080459 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613722"^^xsd:string ; oboInOwl:hasExactSynonym "DEE12"^^xsd:string, "early infantile epileptic encephalopathy 12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080459"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080460 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616645"^^xsd:string ; oboInOwl:hasExactSynonym "DEE34"^^xsd:string, "early infantile epileptic encephalopathy 34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080460"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080461 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12391"^^xsd:string, "OMIM:616056"^^xsd:string ; oboInOwl:hasExactSynonym "DEE26"^^xsd:string, "early infantile epileptic encephalopathy 26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080461"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080462 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613720"^^xsd:string, "ORDO:439218"^^xsd:string ; oboInOwl:hasExactSynonym "KCNQ2-related epileptic encephalopathy"@en, "KCNQ2-related neonatal epileptic encephalopathy"@en, "early infantile epileptic encephalopathy 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080462"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080463 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616409"^^xsd:string ; oboInOwl:hasExactSynonym "DEE33"^^xsd:string, "early infantile epileptic encephalopathy 33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080463"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080464 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617389"^^xsd:string ; oboInOwl:hasExactSynonym "DEE53"^^xsd:string, "early infantile epileptic encephalopathy 53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080464"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080465 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616341"^^xsd:string ; oboInOwl:hasExactSynonym "DEE30"^^xsd:string, "early infantile epileptic encephalopathy 30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080465"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080466 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080466"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080467 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300672"^^xsd:string ; oboInOwl:hasExactSynonym "DEE2"^^xsd:string, "EIEE2"^^xsd:string, "X-linked infantile spasm syndrome 2"@en, "early infantile epileptic encephalopathy 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080467"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080468 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308350"^^xsd:string ; oboInOwl:hasExactSynonym "DEE1"^^xsd:string, "X-linked infantile spasm syndrome 1"@en, "early infantile epileptic encephalopathy 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080468"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080469 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital disorder of glycosylation type 2m"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080470 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:12401"^^xsd:string, "OMIM:300884"^^xsd:string, "ORDO:324422"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type Is"^^xsd:string, "early infantile epileptic encephalopathy 36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080470"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080471 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617829"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080471"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 92"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080472 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617711"^^xsd:string ; oboInOwl:hasExactSynonym "infantile or early childhood epileptic encephalopathy 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080472"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080473 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080473"^^xsd:string ; a owl:Class ; rdfs:label "developmental delay and seizures with or without movement abnormalities"^^xsd:string ; rdfs:subClassOf obo:DOID_0050888 . obo:DOID_0080474 obo:IAO_0000115 "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L40.1"^^xsd:string, "OMIM:614204"^^xsd:string, "ORDO:404546"^^xsd:string ; oboInOwl:hasExactSynonym "acrodermatitis continua of Hallopeau"^^xsd:string, "deficiency of IL-36R antagonist"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080474"^^xsd:string ; a owl:Class ; rdfs:label "pustular psoriasis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0080475 obo:IAO_0000115 "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080475"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0080476 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214100"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 1A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080476"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080477 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214110"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 2A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080477"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080478 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614859"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 3A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080478"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080479 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614862"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 4A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080479"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080480 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614866"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 5A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080480"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080481 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614870"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 6A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080481"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 6A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080482 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614872"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 7A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080482"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 7A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080483 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614876"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 8A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080483"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 8A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080484 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614882"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 10A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080484"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 10A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080485 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614883"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 11A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080485"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080486 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614886"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 12A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080486"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 12A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080487 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614887"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 13A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080487"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 13A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080488 obo:IAO_0000115 "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080488"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis"@en ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0080489 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years."^^xsd:string ; oboInOwl:hasDbXref "GARD:2431"^^xsd:string, "OMIM:230650"^^xsd:string, "ORDO:79257"^^xsd:string ; oboInOwl:hasExactSynonym "adult-onset GM1 gangliosidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080489"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 3"@en ; rdfs:subClassOf obo:DOID_3322, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080490 obo:IAO_0000115 "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time."^^xsd:string ; oboInOwl:hasDbXref "GARD:94"^^xsd:string, "OMIM:252650"^^xsd:string, "ORDO:578"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080490"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis type IV"@en ; rdfs:subClassOf obo:DOID_0080488 . obo:DOID_0080491 obo:IAO_0000115 "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:116860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080491"^^xsd:string ; a owl:Class ; rdfs:label "cerebral cavernous malformation 1"@en ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0080492 obo:IAO_0000115 "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit."^^xsd:string ; oboInOwl:hasDbXref "ORDO:99843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080492"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 2"@en ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0080493 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080493"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080494 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080494"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 2"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080495 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614324"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080495"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080496 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616185"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080496"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080497 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080497"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080498 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080498"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080499 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618117"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080499"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080500 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618187"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080500"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 8"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080501 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age."^^xsd:string ; oboInOwl:hasDbXref "OMIM:230600"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile GM1 gangliosidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080501"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 2"@en ; rdfs:subClassOf obo:DOID_3322 . obo:DOID_0080502 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death."^^xsd:string ; oboInOwl:hasDbXref "GARD:6479"^^xsd:string, "OMIM:230500"^^xsd:string, "ORDO:79255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080502"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 1"@en ; rdfs:subClassOf obo:DOID_3322, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0080503 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS614080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080503"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080504 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616710"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson's disease 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080504"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 22"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080505 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080505"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080506 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300590"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080506"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080507 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610759"^^xsd:string ; oboInOwl:hasExactSynonym "CDLS3"^^xsd:string, "Cornelia De Lange syndrome 3 with or without midline brain defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080507"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080508 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614701"^^xsd:string ; oboInOwl:hasExactSynonym "CDLS4"^^xsd:string, "Cornelia De Lange syndrome 4 with or without midline brain defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080508"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080509 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080509"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 5"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080510 obo:IAO_0000115 "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131800"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex Weber-Cockayne type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080510"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex localized type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080511 obo:IAO_0000115 "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131900"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex Koebner type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080511"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex generalized type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080512 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080512"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080513 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080513"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080514 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613803"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080514"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080515 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613804"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080515"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080516 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080516"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080517 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616835"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080517"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080518 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617063"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080518"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080519 obo:IAO_0000115 "A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604416"^^xsd:string, "ORDO:69126"^^xsd:string ; oboInOwl:hasExactSynonym "pyogenic arthritis, pyoderma gangrenosum and acne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080519"^^xsd:string ; a owl:Class ; rdfs:label "PAPA syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080520 obo:IAO_0000115 "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300622"^^xsd:string ; oboInOwl:hasExactSynonym "galactosyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080520"^^xsd:string ; a owl:Class ; rdfs:label "Tn polyagglutination syndrome"@en ; rdfs:subClassOf obo:DOID_74 . obo:DOID_0080521 obo:IAO_0000115 "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C135017"^^xsd:string ; oboInOwl:hasExactSynonym "non- squamous NSCLC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080521"^^xsd:string ; a owl:Class ; rdfs:label "lung non-squamous non-small cell carcinoma"@en ; rdfs:subClassOf obo:DOID_3908 . obo:DOID_0080522 obo:IAO_0000115 "A thyroid gland carcinoma that is composed of undifferentiated cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3878"^^xsd:string ; oboInOwl:hasExactSynonym "anaplastic thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080522"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "thyroid gland anaplastic carcinoma"@en ; rdfs:subClassOf obo:DOID_3963 . obo:DOID_0080523 obo:IAO_0000115 "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10981"^^xsd:string, "OMIM:221820"^^xsd:string, "ORDO:313808"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary diffuse leukoencephalopathy with spheroids"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080523"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080524 obo:IAO_0000115 "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27380"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080524"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_299, obo:DOID_3963, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0080525 obo:IAO_0000115 "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080525"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "differentiated thyroid gland carcinoma"@en ; rdfs:subClassOf obo:DOID_0080524 . obo:DOID_0080526 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080526"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080527 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613021"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080527"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080528 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080528"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080530 obo:IAO_0000115 "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface."^^xsd:string ; oboInOwl:hasDbXref "OMIM:121900"^^xsd:string ; oboInOwl:hasExactSynonym "corneal dystrophy, Groenouw type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080530"^^xsd:string ; a owl:Class ; rdfs:label "granular corneal dystrophy 1"@en ; rdfs:subClassOf obo:DOID_12318, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080531 obo:IAO_0000115 "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M8858/3"^^xsd:string, "NCI:C3704"^^xsd:string, "ORDO:99970"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080531"^^xsd:string ; a owl:Class ; rdfs:label "dedifferentiated liposarcoma"@en ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_0080532 obo:IAO_0000115 "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex)."^^xsd:string ; oboInOwl:hasDbXref "ORDO:466962"^^xsd:string ; oboInOwl:hasExactSynonym "SMARCA4-DTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080532"^^xsd:string ; a owl:Class ; rdfs:label "Smarca4-deficient sarcoma of thorax"@en ; rdfs:subClassOf obo:DOID_5093 . obo:DOID_0080533 obo:IAO_0000115 "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors."^^xsd:string ; oboInOwl:hasDbXref "GARD:10643"^^xsd:string, "OMIM:606864"^^xsd:string, "ORDO:97286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080533"^^xsd:string ; a owl:Class ; rdfs:label "Carney-Stratakis syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080534 obo:IAO_0000115 "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6496"^^xsd:string, "ORDO:79105"^^xsd:string ; oboInOwl:hasExactSynonym "fibromyxoid sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080534"^^xsd:string ; a owl:Class ; rdfs:label "myxofibrosarcoma"@en ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_0080535 obo:IAO_0000115 "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS613280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080535"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia"@en ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0080536 obo:IAO_0000115 "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080536"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia 1"@en ; rdfs:subClassOf obo:DOID_0080535, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0080537 obo:IAO_0000115 "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617013"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080537"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia 2"@en ; rdfs:subClassOf obo:DOID_0080535 . obo:DOID_0080538 obo:IAO_0000115 "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617746"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080538"^^xsd:string ; a owl:Class ; rdfs:label "Sweeney-Cox syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080539 obo:IAO_0000115 "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:4264"^^xsd:string, "OMIM:260565"^^xsd:string, "ORDO:2836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080539"^^xsd:string ; a owl:Class ; rdfs:label "PEHO syndrome"@en ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0080540 obo:IAO_0000115 "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3953"^^xsd:string, "OMIM:256540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080540"^^xsd:string ; a owl:Class ; rdfs:label "galactosialidosis"@en ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_0080541 obo:IAO_0000115 "An amno acid metabolic disorder that is characterized by the excess of proline in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:2847"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080541"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia"@en ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0080542 obo:IAO_0000115 "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:239500"^^xsd:string, "ORDO:419"^^xsd:string ; oboInOwl:hasExactSynonym "hyperprolinemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080542"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080541, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080543 obo:IAO_0000115 "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:239510"^^xsd:string, "ORDO:79101"^^xsd:string ; oboInOwl:hasExactSynonym "hyperprolinemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080543"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080541, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080544 obo:IAO_0000115 "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3990"^^xsd:string, "OMIM:PS308230"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency with hyper-IgM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080544"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgM syndrome"@en ; rdfs:subClassOf obo:DOID_2959 . obo:DOID_0080545 obo:IAO_0000115 "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:10956"^^xsd:string, "OMIM:PS147060"^^xsd:string ; oboInOwl:hasExactSynonym "hyper immunoglobulin E syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080545"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE syndrome"@en ; rdfs:subClassOf obo:DOID_2959 . obo:DOID_0080546 obo:IAO_0000115 "A nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning."^^xsd:string ; oboInOwl:hasExactSynonym "NAFL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080546"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic fatty liver"@en ; rdfs:subClassOf obo:DOID_0080208 . obo:DOID_0080547 obo:IAO_0000115 "A nonalcoholic fatty liver disease that is characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without any fibrosis."^^xsd:string ; oboInOwl:hasExactSynonym "NASH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080547"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic steatohepatitis"@en ; rdfs:subClassOf obo:DOID_0080208, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ] . obo:DOID_0080548 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:151100"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080548"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 1"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080549 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611554"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080549"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 2"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080550 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613707"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080550"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 3"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080551 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9795"^^xsd:string, "OMIM:601214"^^xsd:string, "ORDO:34217"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080551"^^xsd:string ; a owl:Class ; rdfs:label "Naxos disease"@en ; rdfs:subClassOf obo:DOID_0050428 . obo:DOID_0080552 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9826"^^xsd:string, "OMIM:212065"^^xsd:string, "ORDO:79318"^^xsd:string ; oboInOwl:hasExactSynonym "PMM2-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1a"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080552"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080553 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617082"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1aa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080553"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iaa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080554 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9830"^^xsd:string, "OMIM:602579"^^xsd:string, "ORDO:79319"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1b"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080554"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ib"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080555 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "GARD:9829"^^xsd:string, "OMIM:603147"^^xsd:string, "ORDO:79320"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1c"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080555"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ic"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080556 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:9827"^^xsd:string, "OMIM:601110"^^xsd:string, "ORDO:79321"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1d"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080556"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Id"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080557 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9831"^^xsd:string, "OMIM:608799"^^xsd:string, "ORDO:79322"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1e"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080557"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ie"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080558 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9832"^^xsd:string, "OMIM:609180"^^xsd:string, "ORDO:79323"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1f"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080558"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation If"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080559 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9833"^^xsd:string, "OMIM:607143"^^xsd:string, "ORDO:79324"^^xsd:string ; oboInOwl:hasExactSynonym "ALG12-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1g"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080559"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ig"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080560 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:9834"^^xsd:string, "OMIM:608104"^^xsd:string, "ORDO:79325"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1h"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080560"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ih"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000526 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080561 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9836"^^xsd:string, "OMIM:607906"^^xsd:string, "ORDO:79326"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1i"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080561"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ii"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080562 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9837"^^xsd:string, "OMIM:608093"^^xsd:string, "ORDO:86309"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital disorder of glycosylation 1j"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080562"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ij"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080563 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9838"^^xsd:string, "OMIM:608540"^^xsd:string, "ORDO:79327"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1k"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080563"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ik"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080564 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9839"^^xsd:string, "OMIM:608776"^^xsd:string, "ORDO:79328"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1l"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080564"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Il"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080565 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:12393"^^xsd:string, "OMIM:610768"^^xsd:string, "ORDO:91131"^^xsd:string ; oboInOwl:hasExactSynonym "DOLK-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1m"@en, "dolichol kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080565"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Im"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080566 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:12394"^^xsd:string, "OMIM:612015"^^xsd:string, "ORDO:244310"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1n"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080566"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation In"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080567 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:12396"^^xsd:string, "OMIM:613661"^^xsd:string, "ORDO:280071"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080567"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ip"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080568 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12397"^^xsd:string, "OMIM:612379"^^xsd:string, "ORDO:324737"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080568"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iq"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080569 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:12398"^^xsd:string, "OMIM:614507"^^xsd:string, "ORDO:300536"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1r"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080569"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ir"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080570 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614921"^^xsd:string, "ORDO:319646"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1t"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080570"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation It"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080571 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:12416"^^xsd:string, "OMIM:615042"^^xsd:string, "ORDO:329178"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1u"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080571"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iu"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080572 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615596"^^xsd:string, "ORDO:370921"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1w"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080572"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iw"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080573 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615597"^^xsd:string, "ORDO:370924"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1x"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080573"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ix"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080574 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:12405"^^xsd:string, "OMIM:300934"^^xsd:string, "ORDO:370927"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080574"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080575 obo:IAO_0000115 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:245600"^^xsd:string, "ORDO:284139"^^xsd:string ; oboInOwl:hasExactSynonym "Larsen-like syndrome, B3GAT3 type"@en, "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080575"^^xsd:string ; a owl:Class ; rdfs:label "Larsen-like syndrome B3GAT3 type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080576 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10057"^^xsd:string, "OMIM:610442"^^xsd:string, "ORDO:168454"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080576"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, Genevieve-type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080577 obo:IAO_0000115 "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080577"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "polygenic disease"@en ; rdfs:subClassOf obo:DOID_630 . obo:DOID_0080578 obo:IAO_0000115 "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080578"^^xsd:string ; a owl:Class ; rdfs:label "digenic disease"@en ; rdfs:subClassOf obo:DOID_0080577 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] ) ] . obo:DOID_0080579 obo:IAO_0000115 "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080579"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase 1 deficiency"@en ; rdfs:subClassOf obo:DOID_0050710 . obo:DOID_0080580 obo:IAO_0000115 "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080580"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase 2 deficiency"@en ; rdfs:subClassOf obo:DOID_0050710 . obo:DOID_0080581 obo:IAO_0000115 "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080581"^^xsd:string ; a owl:Class ; rdfs:label "hyperekplexia 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080582 obo:IAO_0000115 "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080582"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 14"@en ; rdfs:subClassOf obo:DOID_4535 . obo:DOID_0080583 obo:IAO_0000115 "A Wolfram syndrome that has_material_basis_in mutation in mtDNA."^^xsd:string ; oboInOwl:hasDbXref "OMIM:598500"^^xsd:string ; oboInOwl:hasExactSynonym "DIDMOAD, mitochondrial form"@en, "diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080583"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome, mitochondrial form"@en ; rdfs:subClassOf obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000949 ] . obo:DOID_0080584 obo:IAO_0000115 "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614296"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080584"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Wolfram syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080585 obo:IAO_0000115 "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080585"^^xsd:string ; a owl:Class ; rdfs:label "Van Maldergem syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060238 . obo:DOID_0080586 obo:IAO_0000115 "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615546"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080586"^^xsd:string ; a owl:Class ; rdfs:label "Van Maldergem syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060238 . obo:DOID_0080587 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080587"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 22"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080588 obo:IAO_0000115 "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080588"^^xsd:string ; a owl:Class ; rdfs:label "agammaglobulinemia 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080589 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:118100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080589"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080590 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080590"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080591 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080591"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080592 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616549"^^xsd:string, "ORDO:447974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080592"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080593 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608864"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080593"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 6"@en ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080594 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:2816"^^xsd:string, "OMIM:243700"^^xsd:string, "ORDO:217390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080594"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080595 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080595"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080596 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618523"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080596"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080597 obo:IAO_0000115 "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS610253"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080597"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Kleefstra syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080598 obo:IAO_0000115 "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617768"^^xsd:string, "ORDO:261652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080598"^^xsd:string ; a owl:Class ; rdfs:label "Kleefstra syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080597, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080599 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in Coronavirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080599"^^xsd:string ; a owl:Class ; rdfs:label "Coronavirus infectious disease"@en ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0080600 obo:IAO_0000115 "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:U07.1"^^xsd:string, "MESH:D000086382"^^xsd:string, "NCI:C171133"^^xsd:string, "SNOMEDCT_US_2021_03_01:840539006"^^xsd:string, "UMLS_CUI:C5203670"^^xsd:string ; oboInOwl:hasExactSynonym "2019 Novel Coronavirus (2019-nCoV)"@en, "2019-nCoV infection"@en, "COVID19"^^xsd:string, "SARS-CoV-2 infection"^^xsd:string, "Wuhan coronavirus infection"@en, "Wuhan seafood market pneumonia virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080600"^^xsd:string ; a owl:Class ; rdfs:label "COVID-19"@en ; rdfs:subClassOf obo:DOID_0080599, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000009 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000613 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_0080601 obo:IAO_0000115 "A benign neoplasm that derives_from germ cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080601"^^xsd:string ; a owl:Class ; rdfs:label "germ cell benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060084 . obo:DOID_0080602 obo:IAO_0000115 "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9080/1"^^xsd:string, "NCI:C67107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080602"^^xsd:string ; a owl:Class ; rdfs:label "benign teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080601 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000924 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000925 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000926 ] ) ] ) ] . obo:DOID_0080603 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080603"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 1"@en ; rdfs:subClassOf obo:DOID_7147 . obo:DOID_0080604 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:183840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080604"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7147, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080605 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080605"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 3"@en ; rdfs:subClassOf obo:DOID_7147 . obo:DOID_0080606 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:107250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080606"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080607 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610256"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080607"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080608 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601631"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080608"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080609 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080609"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080610 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080610"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 5"@en ; rdfs:subClassOf obo:DOID_0060648 . obo:DOID_0080611 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080611"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 6"@en ; rdfs:subClassOf obo:DOID_0060648 . obo:DOID_0080612 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:269400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080612"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080613 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080613"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080614 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of SLC24A5 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080614"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type VI"@en ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0080615 obo:IAO_0000115 "A kidney benign neoplasm that is located_in the kidney cortex."^^xsd:string ; oboInOwl:hasExactSynonym "benign nephroma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080615"^^xsd:string ; a owl:Class ; rdfs:label "nephroma"@en ; rdfs:subClassOf obo:DOID_0080616, obo:DOID_3116 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001851 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] ) ] . obo:DOID_0080616 obo:IAO_0000115 "A kidney disease that is located_in the kidney cortex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080616"^^xsd:string ; a owl:Class ; rdfs:label "kidney cortex disease"@en ; rdfs:subClassOf obo:DOID_557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001851 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] ) ] . obo:DOID_0080617 obo:IAO_0000115 "An immune system organ benign neoplasm that is located_in the lymph nodes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3636"^^xsd:string, "SNOMEDCT_US_2020_03_01:92197001"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080617"^^xsd:string ; a owl:Class ; rdfs:label "lymph node benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060092, obo:DOID_9942 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] ) ] . obo:DOID_0080618 obo:IAO_0000115 "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080618"^^xsd:string ; a owl:Class ; rdfs:label "lymph node carcinoma"@en ; rdfs:subClassOf obo:DOID_10619, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_0080619 obo:IAO_0000115 "A sensory system benign neoplasm that is located in the auditory system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080619"^^xsd:string ; a owl:Class ; rdfs:label "auditory system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060096, obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016490 ] ) ] . obo:DOID_0080620 obo:IAO_0000115 "An adrenal cortex disease that is characterized by insufficent production of glucocorticoids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS202200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080620"^^xsd:string ; a owl:Class ; rdfs:label "familial glucocorticoid deficiency"@en ; rdfs:subClassOf obo:DOID_9553 . obo:DOID_0080621 obo:IAO_0000115 "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080621"^^xsd:string ; a owl:Class ; rdfs:label "glucocorticoid deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080620, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080622 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080622"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 2B"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080623 obo:IAO_0000115 "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasBroadSynonym "Deafness-enamel hypoplasia-nail defects syndrome"^^xsd:string ; oboInOwl:hasDbXref "OMIM:234580"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisomal biogenesis disorder 1C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080623"^^xsd:string ; a owl:Class ; rdfs:label "Heimler syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080624 obo:IAO_0000115 "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616617"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisomal biogenesis disorder 4C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080624"^^xsd:string ; a owl:Class ; rdfs:label "Heimler syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080625 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080625"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 1"@en ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080626 obo:IAO_0000115 "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203400"^^xsd:string, "ORDO:427"^^xsd:string ; oboInOwl:hasExactSynonym "aldosterone synthase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080626"^^xsd:string ; a owl:Class ; rdfs:label "corticosterone methyloxidase deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080627 obo:IAO_0000115 "A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:612"^^xsd:string, "OMIM:PS203650"^^xsd:string, "ORDO:2850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080627"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080628 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080628"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080629 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in linkage to chromosome 3q26.2-q26.31 locus APMR2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080629"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080630 obo:IAO_0000115 "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7061"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9836/3"^^xsd:string, "NCI:C8936"^^xsd:string, "UMLS_CUI:C0862030"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL"^^xsd:string, "precursor B lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080630"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma"@en ; rdfs:subClassOf obo:DOID_0080638 . obo:DOID_0080631 obo:IAO_0000115 "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:955"^^xsd:string, "OMIM:211380"^^xsd:string, "ORDO:1299"^^xsd:string ; oboInOwl:hasExactSynonym "branchioskeletogenital syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080631"^^xsd:string ; a owl:Class ; rdfs:label "Elsahy-Waters syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080632 obo:IAO_0000115 "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211500"^^xsd:string ; oboInOwl:hasExactSynonym "riboflavin transporter deficiency neuronopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080632"^^xsd:string ; a owl:Class ; rdfs:label "Fazio-Londe disease"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_681, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080633 obo:IAO_0000115 "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:212093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080633"^^xsd:string ; a owl:Class ; rdfs:label "developmental cardiac valvular defect"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080634 obo:IAO_0000115 "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600165"^^xsd:string, "OMIM:609549"^^xsd:string, "OMIM:611897"^^xsd:string, "OMIM:615972"^^xsd:string, "OMIM:PS600165"^^xsd:string, "ORDO:35612"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080634"^^xsd:string ; a owl:Class ; rdfs:label "nanophthalmos"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080635 obo:IAO_0000115 "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:212550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080635"^^xsd:string ; a owl:Class ; rdfs:label "optic disc anomalies with retinal and/or macular dystrophy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10629, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080636 obo:IAO_0000115 "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080636"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080637 obo:IAO_0000115 "A microphthalmia that occurs by itself."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080637"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080638 obo:IAO_0000115 "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8644"^^xsd:string ; oboInOwl:hasExactSynonym "B acute lymphoblastic leukemia"^^xsd:string, "B-cell acute lymphocytic leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080638"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_9952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ] . obo:DOID_0080639 obo:IAO_0000115 "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080639"^^xsd:string ; a owl:Class ; rdfs:label "bone sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_184, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_0080640 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080640"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_0060262, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_0080641 obo:IAO_0000115 "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080641"^^xsd:string ; a owl:Class ; rdfs:label "tongue carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_8649, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_0080642 obo:IAO_0000115 "A Coronavirus infection that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080642"^^xsd:string ; a owl:Class ; rdfs:label "Middle East respiratory syndrome"@en ; rdfs:subClassOf obo:DOID_0080599, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0080643 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80331"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with BCR-ABL1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080643"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with BCR-ABL1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080644 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80342"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL KMT2A rearranged"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080644"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma KMT2A rearranged"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080645 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80343"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with ETV6-RUNX1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080645"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080646 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80335"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with hyperdiploidy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080646"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080647 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80338"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with hypodiploidy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080647"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with hypodiploidy"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080648 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80346"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with IL3-IGH"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080648"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with IL3-IGH"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080649 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80347"^^xsd:string ; oboInOwl:hasExactSynonym "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)"^^xsd:string, "B-ALL with TCF3-PBX1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080649"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080650 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion."^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL BCR-ABL1–like"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080650"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080651 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21."^^xsd:string ; oboInOwl:hasDbXref "NCI:C130039"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with iAMP21"^^xsd:string, "Intrachromosomal amplification of chromosome 21 (iAMP21)"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080651"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with iAMP21"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080652 obo:IAO_0000115 "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:167030"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080652"^^xsd:string ; a owl:Class ; rdfs:label "calcium oxalate nephrolithiasis"@en ; rdfs:subClassOf obo:DOID_585 . obo:DOID_0080653 obo:IAO_0000115 "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080653"^^xsd:string ; a owl:Class ; rdfs:label "urolithiasis"@en ; rdfs:subClassOf obo:DOID_18 . obo:DOID_0080654 obo:IAO_0000115 "An urolithiasis in which the composition of the stones is predominantly urate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C123245"^^xsd:string, "OMIM:191700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080654"^^xsd:string ; a owl:Class ; rdfs:label "uric acid urolithiasis"@en ; rdfs:subClassOf obo:DOID_0080653 . obo:DOID_0080655 obo:IAO_0000115 """A kidney disease that is characterized by formation of renal calcium stones or bone demineralization."""^^xsd:string ; oboInOwl:hasDbXref "KEGG:H00888"^^xsd:string, "OMIM:PS612286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080655"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis"@en ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0080656 obo:IAO_0000115 "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY."^^xsd:string ; oboInOwl:hasDbXref "NCI:C120199"^^xsd:string, "ORDO:1772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080656"^^xsd:string ; a owl:Class ; rdfs:label "45,X/46,XY mixed gonadal dysgenesis"@en ; rdfs:subClassOf obo:DOID_14449 . obo:DOID_0080661 obo:IAO_0000115 "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:107600"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic aplasia cutis congenita"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080661"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic aplasia cutis congenita"@en ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0080662 obo:IAO_0000115 "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108770"^^xsd:string, "ORDO:1344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080662"^^xsd:string ; a owl:Class ; rdfs:label "atrial standstill 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080663 obo:IAO_0000115 "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080663"^^xsd:string ; a owl:Class ; rdfs:label "atrial standstill 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080664 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10072"^^xsd:string, "NCI:C122660"^^xsd:string, "OMIM:112250"^^xsd:string, "ORDO:85182"^^xsd:string ; oboInOwl:hasExactSynonym "Hardcastle syndrome"^^xsd:string, "bone dysplasia-medullary fibrosarcoma syndrome"^^xsd:string, "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080664"^^xsd:string ; a owl:Class ; rdfs:label "diaphyseal medullary stenosis with malignant fibrous histiocytoma"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080665 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin."^^xsd:string ; oboInOwl:hasDbXref "GARD:12721"^^xsd:string, "OMIM:122700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080665"^^xsd:string ; a owl:Class ; rdfs:label "warfarin resistance"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080666 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080666"^^xsd:string ; a owl:Class ; rdfs:label "warfarin sensitivity"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080667 obo:IAO_0000115 "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles."^^xsd:string ; oboInOwl:hasExactSynonym "very severe spinal muscular atrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080667"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy type 0"@en ; rdfs:subClassOf obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080669 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618031"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080669"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080670 obo:IAO_0000115 "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080670"^^xsd:string ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080671 obo:IAO_0000115 "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618767"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080671"^^xsd:string ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080672 obo:IAO_0000115 "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:228520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080672"^^xsd:string ; a owl:Class ; rdfs:label "fibrochondrogenesis 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080673 obo:IAO_0000115 "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080673"^^xsd:string ; a owl:Class ; rdfs:label "fibrochondrogenesis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080674 obo:IAO_0000115 "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C53555"^^xsd:string, "UMLS_CUI:C3642346"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal B Breast Carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080674"^^xsd:string ; a owl:Class ; rdfs:label "luminal breast carcinoma B"@en ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0080675 obo:IAO_0000115 "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604841"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080675"^^xsd:string ; a owl:Class ; rdfs:label "Stickler syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080046, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080676 obo:IAO_0000115 "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108300"^^xsd:string, "ORDO:90653"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080676"^^xsd:string ; a owl:Class ; rdfs:label "Stickler syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080046, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080677 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:184840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080677"^^xsd:string ; a owl:Class ; rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal dominant"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080678 obo:IAO_0000115 "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:252605"^^xsd:string, "ORDO:423470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080678"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis III gamma"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080488, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080679 obo:IAO_0000115 "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine."^^xsd:string ; oboInOwl:hasDbXref "OMIM:243180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080679"^^xsd:string ; a owl:Class ; rdfs:label "neuronal intestinal dysplasia type A"@en ; rdfs:subClassOf obo:DOID_0080072 . obo:DOID_0080680 obo:IAO_0000115 "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080680"^^xsd:string ; a owl:Class ; rdfs:label "neuronal intestinal dysplasia type B"@en ; rdfs:subClassOf obo:DOID_0080072 . obo:DOID_0080681 obo:IAO_0000115 "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:3017"^^xsd:string, "OMIM:300048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080681"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chronic idiopathic intestinal pseudo-obstruction"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080072, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080682 obo:IAO_0000115 "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080682"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant familial visceral neuropathy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080072, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080683 obo:IAO_0000115 "A nail disease that is characterized by underdevelopment of nails."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS161050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080683"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_4123, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080684 obo:IAO_0000115 "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129309"^^xsd:string ; oboInOwl:hasExactSynonym "diffuse intrinsic pontine glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080684"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse midline glioma, H3 K27M-mutant"@en ; rdfs:subClassOf obo:DOID_0080879, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] . obo:DOID_0080685 obo:IAO_0000115 "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080685"^^xsd:string ; a owl:Class ; rdfs:label "aortic dissection"@en ; rdfs:subClassOf obo:DOID_520 . obo:DOID_0080686 obo:IAO_0000115 "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615883"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080686"^^xsd:string ; a owl:Class ; rdfs:label "tubular aggregate myopathy 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:narrowMatch "ORDO:2593"^^xsd:string . obo:DOID_0080687 obo:IAO_0000115 "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300718"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080687"^^xsd:string ; a owl:Class ; rdfs:label "reducing body myopathy 1B"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080688 obo:IAO_0000115 "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes."^^xsd:string ; oboInOwl:hasDbXref "GARD:3007"^^xsd:string, "OMIM:PS257300"^^xsd:string, "ORDO:1052"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080688"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080689 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080689"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080690 obo:IAO_0000115 "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."^^xsd:string ; oboInOwl:hasExactSynonym "RAS/mitogen-activated protein kinase syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080690"^^xsd:string ; a owl:Class ; rdfs:label "RASopathy"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080691 obo:IAO_0000115 "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay."^^xsd:string ; oboInOwl:hasDbXref "GARD:10719"^^xsd:string, "ORDO:2701"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080691"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair"@en ; rdfs:subClassOf obo:DOID_0080690 . obo:DOID_0080692 obo:IAO_0000115 "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607721"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080692"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair 1"@en ; rdfs:subClassOf obo:DOID_0080691 . obo:DOID_0080693 obo:IAO_0000115 "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080693"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair 2"@en ; rdfs:subClassOf obo:DOID_0080691 . obo:DOID_0080694 obo:IAO_0000115 "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy."^^xsd:string ; oboInOwl:hasDbXref "GARD:65"^^xsd:string, "MESH:C537548"^^xsd:string, "NCI:C132195"^^xsd:string, "OMIM:PS251300"^^xsd:string, "ORDO:2065"^^xsd:string, "SNOMEDCT_US_2021_03_01:721297008"^^xsd:string, "UMLS_CUI:C0795949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080694"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080695 obo:IAO_0000115 """A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature."""^^xsd:string ; oboInOwl:hasDbXref "GARD:10041"^^xsd:string, "OMIM:608572"^^xsd:string, "ORDO:1200"^^xsd:string ; oboInOwl:hasExactSynonym "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080695"^^xsd:string ; a owl:Class ; rdfs:label "Burn-McKeown syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080696 obo:IAO_0000115 "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:7894"^^xsd:string, "OMIM:277950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080696"^^xsd:string ; a owl:Class ; rdfs:label "Winchester syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002797 ] . obo:DOID_0080697 obo:IAO_0000115 "An Opitz-GBBB syndrome that has_material_basis_in mutation in the MID1 gene on Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080697"^^xsd:string ; a owl:Class ; rdfs:label "Opitz GBBB syndrome type I"@en ; rdfs:subClassOf obo:DOID_0050780, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080698 obo:IAO_0000115 "An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080698"^^xsd:string ; a owl:Class ; rdfs:label "Opitz GBBB syndrome type II"@en ; rdfs:subClassOf obo:DOID_0050780 . obo:DOID_0080699 obo:IAO_0000115 "An amino acid metabolic disorder characterized by the lack of glutathione production."^^xsd:string ; oboInOwl:hasDbXref "GARD:10047"^^xsd:string, "OMIM:266130"^^xsd:string, "ORDO:32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080699"^^xsd:string ; a owl:Class ; rdfs:label "glutathione synthetase deficiency"@en ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0080700 obo:IAO_0000115 "A physical disorder that is characterized by impairment of the development of the lower half of the body."^^xsd:string ; oboInOwl:hasExactSynonym "caudal dysgenesis syndrome"^^xsd:string, "caudal dysplasia sequence"^^xsd:string, "caudal regression sequence"^^xsd:string, "sacral agenesis"^^xsd:string, "sacral defect with anterior meningocele"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080700"^^xsd:string ; a owl:Class ; rdfs:label "caudal regression syndrome"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080701 obo:IAO_0000115 "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:188050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080701"^^xsd:string ; a owl:Class ; rdfs:label "prothrombin thrombophilia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080702 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080702"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma WNT activated"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080703 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129441"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080703"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080704 obo:IAO_0000115 "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080704"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated and TP53 mutant"@en ; rdfs:subClassOf obo:DOID_0080703 . obo:DOID_0080705 obo:IAO_0000115 "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129443"^^xsd:string ; oboInOwl:hasExactSynonym "Medulloblastoma SHH-Activated TP53-Wildtype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080705"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated and TP53 wild-type"@en ; rdfs:subClassOf obo:DOID_0080703 . obo:DOID_0080706 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080706"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080707 obo:IAO_0000115 "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129445"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080707"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH group 3"@en ; rdfs:subClassOf obo:DOID_0080706 . obo:DOID_0080708 obo:IAO_0000115 "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129446"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080708"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH group 4"@en ; rdfs:subClassOf obo:DOID_0080706 . obo:DOID_0080709 obo:IAO_0000115 "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080709"^^xsd:string ; a owl:Class ; rdfs:label "NK cell deficiency"@en ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0080710 obo:IAO_0000115 "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080710"^^xsd:string ; a owl:Class ; rdfs:label "T cell and NK cell immunodeficiency"@en ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0080711 obo:IAO_0000115 "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19."^^xsd:string ; oboInOwl:hasExactSynonym "MIS-C"^^xsd:string, "multisystem inflammatory disorder in children and adolescents"^^xsd:string, "paediatric inflammatory multisystemic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080711"^^xsd:string ; a owl:Class ; rdfs:label "multisystem inflammatory syndrome in children"@en ; rdfs:subClassOf obo:DOID_0080599 . obo:DOID_0080712 obo:IAO_0000115 "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene."^^xsd:string ; oboInOwl:hasExactSynonym "gene duplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080712"^^xsd:string ; a owl:Class ; rdfs:label "gene duplication disease"@en ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] ) ] . obo:DOID_0080713 obo:IAO_0000115 "A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking."^^xsd:string ; oboInOwl:hasDbXref "GARD:9781"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080713"^^xsd:string ; a owl:Class ; rdfs:label "MECP2 duplication syndrome"@en ; rdfs:subClassOf obo:DOID_0080712, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0080714 obo:IAO_0000115 "A syndrome that has_material_basis_in inherited extra copies of the alpha tryptase gene and that is characterized by high blood tryptase levels."^^xsd:string ; oboInOwl:hasDbXref "GARD:13193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080714"^^xsd:string ; a owl:Class ; rdfs:label "hereditary alpha tryptasemia syndrome"@en ; rdfs:subClassOf obo:DOID_0080712, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0080715 obo:IAO_0000115 "A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618721"^^xsd:string ; oboInOwl:hasExactSynonym "DEE82"^^xsd:string, "early infantile epileptic encephalopathy 82"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080715"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 82"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080716 obo:IAO_0000115 "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS615438"^^xsd:string, "ORDO:370088"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080716"^^xsd:string ; a owl:Class ; rdfs:label "infantile liver failure syndrome"@en ; rdfs:subClassOf obo:DOID_225, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_0080717 obo:IAO_0000115 "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:13114"^^xsd:string, "OMIM:615438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080717"^^xsd:string ; a owl:Class ; rdfs:label "infantile liver failure syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080716, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080718 obo:IAO_0000115 "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9493"^^xsd:string, "MESH:C536816"^^xsd:string, "MESH:C538329"^^xsd:string, "OMIM:605820"^^xsd:string, "OMIM:617158"^^xsd:string, "ORDO:602"^^xsd:string, "SNOMEDCT_US_2021_03_01:702382000"^^xsd:string, "UMLS_CUI:C1833373"^^xsd:string, "UMLS_CUI:C1853926"^^xsd:string ; oboInOwl:hasExactSynonym "Distal Myopathy with Rimmed Vacuoles"^^xsd:string, "Distal myopathy, Nonaka type"^^xsd:string, "Hereditary Inclusion Body Myopathy"^^xsd:string, "Nonaka myopathy"^^xsd:string, "inclusion body myopathy 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080718"^^xsd:string ; a owl:Class ; rdfs:label "GNE myopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; skos:exactMatch "MESH:C536816"^^xsd:string . obo:DOID_0080719 obo:IAO_0000115 "A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9494"^^xsd:string, "OMIM:605637"^^xsd:string, "ORDO:79091"^^xsd:string ; oboInOwl:hasExactSynonym "inclusion body myopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080719"^^xsd:string ; a owl:Class ; rdfs:label "proximal myopathy and ophthalmoplegia"@en ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080720 obo:IAO_0000115 "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4732"^^xsd:string, "OMIM:124480"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080720"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant congenital deafness with onychodystrophy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080721 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones."^^xsd:string ; oboInOwl:hasDbXref "OMIM:126550"^^xsd:string, "ORDO:85192"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080721"^^xsd:string ; a owl:Class ; rdfs:label "calvarial doughnut lesions with bone fragility"@en ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080722 obo:IAO_0000115 "A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E."^^xsd:string ; oboInOwl:hasDbXref "GARD:8367"^^xsd:string, "OMIM:244460"^^xsd:string, "ORDO:93324"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080722"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080723 obo:IAO_0000115 "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:83"^^xsd:string, "OMIM:127000"^^xsd:string, "ORDO:93325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080723"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:C537020"^^xsd:string . obo:DOID_0080724 obo:IAO_0000115 "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS127000"^^xsd:string, "ORDO:2333"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080724"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome"@en ; rdfs:subClassOf obo:DOID_225, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002652 ] . obo:DOID_0080725 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:2336"^^xsd:string, "KEGG:H02296"^^xsd:string, "OMIM:129200"^^xsd:string, "ORDO:1658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080725"^^xsd:string ; a owl:Class ; rdfs:label "BASAN syndrome"@en ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0080726 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080726"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080727 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080727"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080728 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080728"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080729 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080729"^^xsd:string ; a owl:Class ; rdfs:label "brittle cornea syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10124, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] . obo:DOID_0080730 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225320"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080730"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome cardiac valvular type"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080731 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606408"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080731"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic-like 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080732 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080732"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic-like 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080733 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080733"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome dermatosparaxis type"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080734 obo:IAO_0000115 """An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:225400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080734"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080735 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615539"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080735"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080736 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080736"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome musculocontractural type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080737 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615539"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080737"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome musculocontractural type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080738 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130070"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080738"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080739 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612350"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080739"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 3"@en ; rdfs:subClassOf obo:DOID_13359 . obo:DOID_0080740 obo:IAO_0000115 "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M32.11"^^xsd:string ; oboInOwl:hasExactSynonym "Libmann–Sachs, Endocarditis in systemic lupus erythematosus"^^xsd:string, "nonbacterial thrombotic endocarditis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080740"^^xsd:string ; a owl:Class ; rdfs:label "Libman-Sacks endocarditis"@en ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0080741 obo:IAO_0000115 "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes."^^xsd:string ; oboInOwl:hasDbXref "GARD:8742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080741"^^xsd:string ; a owl:Class ; rdfs:label "limbic encephalitis"@en ; rdfs:subClassOf obo:DOID_438, obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001871 ] . obo:DOID_0080742 obo:IAO_0000115 "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera."^^xsd:string ; oboInOwl:hasExactSynonym "autoimmune cholangiopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080742"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune cholangitis"@en ; rdfs:subClassOf obo:DOID_2048 . obo:DOID_0080743 obo:IAO_0000115 "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080743"^^xsd:string ; a owl:Class ; rdfs:label "transverse myelitis"@en ; rdfs:subClassOf obo:DOID_322 . obo:DOID_0080744 obo:IAO_0000115 "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases."^^xsd:string ; oboInOwl:hasDbXref "GARD:735"^^xsd:string, "ORDO:81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080744"^^xsd:string ; a owl:Class ; rdfs:label "antisynthetase syndrome"@en ; rdfs:subClassOf obo:DOID_417 ; skos:exactMatch "MESH:C537778"^^xsd:string . obo:DOID_0080745 obo:IAO_0000115 "A myositis that is characterized by muscle weakness affecting both sides of your body."^^xsd:string ; oboInOwl:hasDbXref "GARD:7425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080745"^^xsd:string ; a owl:Class ; rdfs:label "polymyositis"@en ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_633, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080746 obo:IAO_0000115 "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Acute Febrile Neutrophilic Dermatosis"^^xsd:string, "Sweet's syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080746"^^xsd:string ; a owl:Class ; rdfs:label "Sweet syndrome"@en ; rdfs:subClassOf obo:DOID_1205, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0080747 obo:IAO_0000115 "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080747"^^xsd:string ; a owl:Class ; rdfs:label "chronic urticaria"@en ; rdfs:subClassOf obo:DOID_1555 . obo:DOID_0080748 obo:IAO_0000115 "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080748"^^xsd:string ; a owl:Class ; rdfs:label "chronic inducible urticaria"@en ; rdfs:subClassOf obo:DOID_0080747 . obo:DOID_0080749 obo:IAO_0000115 "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus."^^xsd:string ; oboInOwl:hasExactSynonym "chronic idiopathic urticaria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080749"^^xsd:string ; a owl:Class ; rdfs:label "chronic spontaneous urticaria"@en ; rdfs:subClassOf obo:DOID_0080747 . obo:DOID_0080750 obo:IAO_0000115 "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080750"^^xsd:string ; a owl:Class ; rdfs:label "erythema nodosum"@en ; rdfs:subClassOf obo:DOID_1526 . obo:DOID_0080751 obo:IAO_0000115 "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080751"^^xsd:string ; a owl:Class ; rdfs:label "keratosis pilaris atrophicans"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080752 obo:IAO_0000115 "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080752"^^xsd:string ; a owl:Class ; rdfs:label "keratosis pilaris atrophicans faciei"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080753 obo:IAO_0000115 "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080753"^^xsd:string ; a owl:Class ; rdfs:label "keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080754 obo:IAO_0000115 "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:6829"^^xsd:string, "OMIM:308800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080754"^^xsd:string ; a owl:Class ; rdfs:label "X-linked keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080753, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080755 obo:IAO_0000115 "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080755"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080753 . obo:DOID_0080756 obo:IAO_0000115 "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead."^^xsd:string ; oboInOwl:hasDbXref "GARD:9744"^^xsd:string, "OMIM:209700"^^xsd:string, "ORDO:79100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080756"^^xsd:string ; a owl:Class ; rdfs:label "atrophoderma vermiculata"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080757 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:134600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080757"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080758 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613388"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080758"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080759 obo:IAO_0000115 "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615605"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080759"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080760 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616026"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080760"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080761 obo:IAO_0000115 "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618913"^^xsd:string ; oboInOwl:hasExactSynonym "Acadian-variant Fanconi syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080761"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080762 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617232"^^xsd:string ; oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy 21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080762"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Z"@en ; rdfs:subClassOf obo:DOID_0110274, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080763 obo:IAO_0000115 "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining."^^xsd:string ; oboInOwl:hasDbXref "GARD:10334"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080763"^^xsd:string ; a owl:Class ; rdfs:label "diffuse gastric cancer"@en ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_0080764 obo:IAO_0000115 "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:10900"^^xsd:string, "OMIM:137215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080764"^^xsd:string ; a owl:Class ; rdfs:label "hereditary diffuse gastric cancer"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080765 obo:IAO_0000115 "A syndromic intellectual disability that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618665"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive mental retardation 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080765"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive intellectual developmental disorder-72"@en ; rdfs:subClassOf obo:DOID_0050888 . obo:DOID_0080766 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618531"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080766"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 6"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080767 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:9519"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080767"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune myocarditis"@en ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_820, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002349 ] ) ] . obo:DOID_0080768 obo:IAO_0000115 "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine."^^xsd:string ; oboInOwl:hasDbXref "GARD:9298"^^xsd:string, "OMIM:266100"^^xsd:string, "ORDO:3006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080768"^^xsd:string ; a owl:Class ; rdfs:label "pyridoxine-dependent epilepsy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:C536254"^^xsd:string . obo:DOID_0080769 obo:IAO_0000115 "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080769"^^xsd:string ; a owl:Class ; rdfs:label "early-onset vitamin B6-dependent epilepsy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004340 ] . obo:DOID_0080770 obo:IAO_0000115 "A beta thalassemia that has material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603902"^^xsd:string ; oboInOwl:hasExactSynonym "inclusion body beta-thalassemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080770"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant beta thalassemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080771 obo:IAO_0000115 "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129699"^^xsd:string, "OMIM:187550"^^xsd:string, "ORDO:231214"^^xsd:string ; oboInOwl:hasExactSynonym "Cooley's anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080771"^^xsd:string ; a owl:Class ; rdfs:label "beta-thalassemia major"@en ; rdfs:subClassOf obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080772 obo:IAO_0000115 "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life."^^xsd:string ; oboInOwl:hasDbXref "ORDO:231222"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080772"^^xsd:string ; a owl:Class ; rdfs:label "beta-thalassemia intermedia"@en ; rdfs:subClassOf obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080773 obo:IAO_0000115 "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild."^^xsd:string ; oboInOwl:hasDbXref "NCI:C172823"^^xsd:string, "ORDO:231237"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080773"^^xsd:string ; a owl:Class ; rdfs:label "delta beta-thalassemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080774 obo:IAO_0000115 "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:187550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080774"^^xsd:string ; a owl:Class ; rdfs:label "thalassemia minor"@en ; rdfs:subClassOf obo:DOID_12241 . obo:DOID_0080775 obo:IAO_0000115 "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E34.51"^^xsd:string, "MESH:D013734"^^xsd:string, "NCI:C120191"^^xsd:string, "ORDO:99429"^^xsd:string, "SNOMEDCT_US_2021_03_01:267486007"^^xsd:string, "UMLS_CUI:C0936016"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080775"^^xsd:string ; a owl:Class ; rdfs:label "complete androgen insensitivity syndrome"@en ; rdfs:subClassOf obo:DOID_4674 . obo:DOID_0080776 obo:IAO_0000115 "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action."^^xsd:string ; oboInOwl:hasDbXref "GARD:5692"^^xsd:string, "OMIM:312300"^^xsd:string, "ORDO:90797"^^xsd:string ; oboInOwl:hasExactSynonym "Reifenstein syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080776"^^xsd:string ; a owl:Class ; rdfs:label "partial androgen insensitivity syndrome"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4674, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080777 obo:IAO_0000115 "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C45540"^^xsd:string ; oboInOwl:hasExactSynonym "Sarcomatoid carcinoma of the lung"^^xsd:string, "pulmonary sarcomatoid carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080777"^^xsd:string ; a owl:Class ; rdfs:label "lung sarcomatoid carcinoma"@en ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_0080778 obo:IAO_0000115 "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10593"^^xsd:string, "OMIM:613070"^^xsd:string, "ORDO:217371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080778"^^xsd:string ; a owl:Class ; rdfs:label "transient infantile liver failure"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080779 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080779"^^xsd:string ; a owl:Class ; rdfs:label "plasmablastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080780 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by a predominant immature erythroid population."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8923"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080780"^^xsd:string ; a owl:Class ; rdfs:label "acute erythroid leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080781 obo:IAO_0000115 "An endocrine organ benign neoplasm arising from the exocrine pancreas."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080781"^^xsd:string ; a owl:Class ; rdfs:label "benign exocrine pancreas neoplasm"@en ; rdfs:subClassOf obo:DOID_0060089 . obo:DOID_0080782 obo:IAO_0000115 "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080782"^^xsd:string ; a owl:Class ; rdfs:label "mucinous pancreas adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3030, obo:DOID_4074, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080783 oboInOwl:hasDbXref "OMIM:304400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080783"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked sensorineural deafness"@en ; owl:deprecated true . obo:DOID_0080784 obo:IAO_0000115 "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014552"^^xsd:string ; oboInOwl:hasExactSynonym "UTI"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080784"^^xsd:string ; a owl:Class ; rdfs:label "urinary tract infection"@en ; rdfs:subClassOf obo:DOID_104, obo:DOID_18, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] ; skos:exactMatch "MESH:D014552"^^xsd:string . obo:DOID_0080785 obo:IAO_0000115 "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080785"^^xsd:string ; a owl:Class ; rdfs:label "Brown-Vialetto-Van Laere syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050694, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080786 obo:IAO_0000115 "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614707"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080786"^^xsd:string ; a owl:Class ; rdfs:label "Brown-Vialetto-Van Laere syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050694, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080787 obo:IAO_0000115 "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:185800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080787"^^xsd:string ; a owl:Class ; rdfs:label "proximal symphalangism 1"@en ; rdfs:subClassOf obo:DOID_0050788 . obo:DOID_0080788 obo:IAO_0000115 "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615298"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080788"^^xsd:string ; a owl:Class ; rdfs:label "proximal symphalangism 2"@en ; rdfs:subClassOf obo:DOID_0050788 . obo:DOID_0080789 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:154500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080789"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 1"@en ; rdfs:subClassOf obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080790 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613717"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080790"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080791 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:248390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080791"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080792 obo:IAO_0000115 "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618939"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080792"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 4"@en ; rdfs:subClassOf obo:DOID_2908 . obo:DOID_0080794 obo:IAO_0000115 "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7972"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric non-Down syndrome acute megakaryoblastic leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080794"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "childhood acute megakaryoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_8761, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080795 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by primary differentiation to basophils."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080795"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "acute basophilic leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080796 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C122688"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080796"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "core binding factor acute myeloid leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080797 obo:IAO_0000115 "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4684"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080797"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "nasal type extranodal NK/T-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050743, obo:DOID_10811, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] . obo:DOID_0080798 obo:IAO_0000115 "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_mateiral_basis_in mutation in the GATA1 gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C43223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080798"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myeloid leukemia associated with Down Syndrome"@en ; rdfs:subClassOf obo:DOID_8761 . obo:DOID_0080799 obo:IAO_0000115 "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C54294"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080799"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sinonasal undifferentiated carcinoma"@en ; rdfs:subClassOf obo:DOID_0050619, obo:DOID_4931, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] . obo:DOID_0080800 obo:IAO_0000115 "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found."^^xsd:string ; oboInOwl:hasDbXref "NCI:C62193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080800"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "salivary gland mucinous adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_0050904, obo:DOID_3030, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080801 obo:IAO_0000115 "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:123000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080801"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant craniometaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080802 obo:IAO_0000115 "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:218400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080802"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive craniometaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080803 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:218330"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080803"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 1"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080804 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080804"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 2"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080805 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080805"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 3"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080806 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614378"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080806"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 4"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080807 obo:IAO_0000115 "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080807"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant craniodiaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080032, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080808 obo:IAO_0000115 "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080808"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mammary analogue secretory carcinoma"@en ; rdfs:subClassOf obo:DOID_0050904 . obo:DOID_0080809 obo:IAO_0000115 "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080809"^^xsd:string ; a owl:Class ; rdfs:label "chronic asthma"@en ; rdfs:subClassOf obo:DOID_2841 . obo:DOID_0080810 obo:IAO_0000115 "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080810"^^xsd:string ; a owl:Class ; rdfs:label "acute asthma"@en ; rdfs:subClassOf obo:DOID_2841 . obo:DOID_0080811 obo:IAO_0000115 "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies."^^xsd:string ; oboInOwl:hasExactSynonym "atopic asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080811"^^xsd:string ; a owl:Class ; rdfs:label "extrinsic asthma"@en ; rdfs:subClassOf obo:DOID_0080809, obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0080812 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080812"^^xsd:string ; a owl:Class ; rdfs:label "intermittent asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080813 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080813"^^xsd:string ; a owl:Class ; rdfs:label "persistent mild asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080814 obo:IAO_0000115 "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080814"^^xsd:string ; a owl:Class ; rdfs:label "persistent moderate asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080815 obo:IAO_0000115 "A chronic asthma that is characterized by first presentation in early childhood."^^xsd:string ; oboInOwl:hasExactSynonym "childhood asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080815"^^xsd:string ; a owl:Class ; rdfs:label "childhood-onset asthma"@en ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080816 obo:IAO_0000115 "A chronic asthma that is characterized by first presentation in adulthood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080816"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset severe asthma"@en ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080817 obo:IAO_0000115 "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease."^^xsd:string ; oboInOwl:hasExactSynonym "type 2 high endotype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080817"^^xsd:string ; a owl:Class ; rdfs:label "T2-high asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080818 obo:IAO_0000115 "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy."^^xsd:string ; oboInOwl:hasExactSynonym "type 2 low endotype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080818"^^xsd:string ; a owl:Class ; rdfs:label "T2-low asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080819 obo:IAO_0000115 "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter."^^xsd:string ; oboInOwl:hasExactSynonym "irritant asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080819"^^xsd:string ; a owl:Class ; rdfs:label "environmental induced asthma"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080820 obo:IAO_0000115 "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080820"^^xsd:string ; a owl:Class ; rdfs:label "occupational asthma"@en ; rdfs:subClassOf obo:DOID_0080819 . obo:DOID_0080821 obo:IAO_0000115 "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise."^^xsd:string ; oboInOwl:hasExactSynonym "exercise-induced asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080821"^^xsd:string ; a owl:Class ; rdfs:label "exercise-induced bronchoconstriction"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080822 obo:IAO_0000115 "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs."^^xsd:string ; oboInOwl:hasExactSynonym "aspirin-sensitive asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080822"^^xsd:string ; a owl:Class ; rdfs:label "aspirin-induced respiratory disease"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080823 obo:IAO_0000115 "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080823"^^xsd:string ; a owl:Class ; rdfs:label "near-fatal asthma"@en ; rdfs:subClassOf obo:DOID_0080810 . obo:DOID_0080824 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080824"^^xsd:string ; a owl:Class ; rdfs:label "persistent severe asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080825 obo:IAO_0000115 "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen."^^xsd:string ; oboInOwl:hasExactSynonym "thunderstorm asthma"^^xsd:string, "thunderstorm related asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080825"^^xsd:string ; a owl:Class ; rdfs:label "thunderstorm triggered asthma"@en ; rdfs:subClassOf obo:DOID_9415 . obo:DOID_0080826 obo:IAO_0000115 "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080826"^^xsd:string ; a owl:Class ; rdfs:label "nocturnal asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080827 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080827"^^xsd:string ; a owl:Class ; rdfs:label "human cytomegalovirus infection"@en ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0080828 obo:IAO_0000115 "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutations in the UBA1 gene."^^xsd:string ; oboInOwl:hasExactSynonym "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080828"^^xsd:string ; a owl:Class ; rdfs:label "VEXAS syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080829 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060101"^^xsd:string ; oboInOwl:hasDbXref "NCI:C132067"^^xsd:string ; oboInOwl:hasExactSynonym "benign glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080829"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "low grade glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060090, obo:DOID_319, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] ) ] . obo:DOID_0080830 obo:IAO_0000115 "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology."^^xsd:string ; oboInOwl:hasExactSynonym "pediatric low-grade glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080830"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "childhood low-grade glioma"@en ; rdfs:subClassOf obo:DOID_0080829, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080831 obo:IAO_0000115 "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080831"^^xsd:string ; a owl:Class ; rdfs:label "subjective cognitive decline"@en ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_0080832 obo:IAO_0000115 "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080832"^^xsd:string ; a owl:Class ; rdfs:label "mild cognitive impairment"@en ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_0080833 obo:IAO_0000115 "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying."^^xsd:string ; oboInOwl:hasDbXref "GARD:6865"^^xsd:string, "ICD10CM:Q31.5"^^xsd:string, "OMIM:150280"^^xsd:string, "ORDO:2373"^^xsd:string, "SNOMEDCT_US_2021_03_01:253737007"^^xsd:string, "UMLS_CUI:C0345160"^^xsd:string ; oboInOwl:hasExactSynonym "congenital laryngomalacia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080833"^^xsd:string ; a owl:Class ; rdfs:label "laryngomalacia"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_786, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000513 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; skos:narrowMatch "MESH:D055092"^^xsd:string . obo:DOID_0080834 obo:IAO_0000115 "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080834"^^xsd:string ; a owl:Class ; rdfs:label "acquired laryngomalacia"@en ; rdfs:subClassOf obo:DOID_786 . obo:DOID_0080835 obo:IAO_0000115 "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms."^^xsd:string ; oboInOwl:hasDbXref "GARD:7781"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080835"^^xsd:string ; a owl:Class ; rdfs:label "TORCH syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080836 obo:IAO_0000115 "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3924"^^xsd:string, "OMIM:245590"^^xsd:string, "ORDO:220465"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080836"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080837 obo:IAO_0000115 """A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:618985"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080837"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080839 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301052"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080839"^^xsd:string ; a owl:Class ; rdfs:label "X-linked warfarin sensitivity"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080840 obo:IAO_0000115 "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080840"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 12"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080841 obo:IAO_0000115 "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080841"^^xsd:string ; a owl:Class ; rdfs:label "pemphigoid"@en ; rdfs:subClassOf obo:DOID_0060039, obo:DOID_8502, [ a owl:Class ; owl:intersectionOf (obo:DOID_2723 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000009 ] ) ] . obo:DOID_0080842 obo:IAO_0000115 "A meningioma that arises within the cranial cavity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4656"^^xsd:string, "SNOMEDCT_US_2021_03_01:302820008"^^xsd:string, "UMLS_CUI:C0349604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080842"^^xsd:string ; a owl:Class ; rdfs:label "intracranial meningioma"@en ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_0080843 obo:IAO_0000115 "A meningioma that affects the supratentorial brain."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6971"^^xsd:string, "UMLS_CUI:C1334698"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080843"^^xsd:string ; a owl:Class ; rdfs:label "supratentorial meningioma"@en ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_0080844 obo:IAO_0000115 "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537746"^^xsd:string, "OMIM:258315"^^xsd:string, "ORDO:93329"^^xsd:string, "SNOMEDCT_US_2021_03_01:725166005"^^xsd:string, "UMLS_CUI:C1850318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080844"^^xsd:string ; a owl:Class ; rdfs:label "omodysplasia 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060288, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080845 obo:IAO_0000115 "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567664"^^xsd:string, "OMIM:164745"^^xsd:string, "SNOMEDCT_US_2021_03_01:725165009"^^xsd:string, "UMLS_CUI:C2750355"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080845"^^xsd:string ; a owl:Class ; rdfs:label "omodysplasia 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060288, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080846 obo:IAO_0000115 "A diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000071698"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080846"^^xsd:string ; a owl:Class ; rdfs:label "latent autoimmune diabetes in adults"@en ; rdfs:subClassOf obo:DOID_417, obo:DOID_9351, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] ; skos:exactMatch "MESH:D000071698"^^xsd:string . obo:DOID_0080848 obo:IAO_0000115 "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia."^^xsd:string ; oboInOwl:hasExactSynonym "PASC", "chronic COVID-19"^^xsd:string, "post-COVID syndrome"^^xsd:string, "post-acute sequelae of SARS-CoV-2 infection" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080848"^^xsd:string ; a owl:Class ; rdfs:label "long COVID"@en ; rdfs:subClassOf obo:DOID_0080599 . obo:DOID_0080849 obo:IAO_0000115 "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements."^^xsd:string ; oboInOwl:hasDbXref "GARD:16"^^xsd:string, "OMIM:257550"^^xsd:string, "ORDO:1404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080849"^^xsd:string ; a owl:Class ; rdfs:label "ocular motor apraxia, Cogan type"@en ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0080850 obo:IAO_0000115 "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080850"^^xsd:string ; a owl:Class ; rdfs:label "pemphigus foliaceus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080851 obo:IAO_0000115 "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080851"^^xsd:string ; a owl:Class ; rdfs:label "IgA pemphigus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080852 obo:IAO_0000115 "A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080852"^^xsd:string ; a owl:Class ; rdfs:label "paraneoplastic pemphigus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080854 obo:IAO_0000115 "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129327"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080854"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic pleomorphic xanthoastrocytoma"@en ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_0080855 obo:IAO_0000115 "A movement disorder that is characterized by disturbances of balance, gait and posture."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080855"^^xsd:string ; a owl:Class ; rdfs:label "Parkinsonism"@en ; rdfs:subClassOf obo:DOID_480 . obo:DOID_0080856 obo:IAO_0000115 "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080856"^^xsd:string ; a owl:Class ; rdfs:label "vascular Parkinsonism"@en ; rdfs:subClassOf obo:DOID_0080855 . obo:DOID_0080857 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)."^^xsd:string ; oboInOwl:hasDbXref "GARD:4480"^^xsd:string, "OMIM:311360"^^xsd:string ; oboInOwl:hasExactSynonym "FMR1-related primary ovarian insufficiency"^^xsd:string, "Fragile X-associated primary ovarian insufficiency"^^xsd:string, "premature ovarian failure 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080857"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 1"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080858 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300511"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080858"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 2A"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080859 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080859"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 2B"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080860 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080860"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080861 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080861"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 4"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080862 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080862"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080863 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080863"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 6"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080864 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612964"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080864"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 7"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080865 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080865"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080866 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615724"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080866"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080867 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612885"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080867"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 10"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080868 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616946"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080868"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 11"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080869 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616946"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080869"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 12"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080870 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080870"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080871 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080871"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080872 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618096"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080872"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080873 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080873"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 16"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080874 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080874"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 17"@en ; rdfs:subClassOf obo:DOID_5426 . obo:DOID_0080875 obo:IAO_0000115 "An anaplastic astrocytoma carrying IDH mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080875"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-mutant anaplastic astrocytoma"@en ; rdfs:subClassOf obo:DOID_3078 . obo:DOID_0080876 obo:IAO_0000115 "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9401/3"^^xsd:string, "NCI:C129291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080876"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-wildtype anaplastic astrocytoma"@en ; rdfs:subClassOf obo:DOID_3078 . obo:DOID_0080877 obo:IAO_0000115 "A glioblastoma that is characterized by astrocytic differentiation, elevated mitotic activity and necrosis or vascular proliferation and that has_material_basis_in IDH1 or IDH2 gene mutations."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9445/3"^^xsd:string, "NCI:C167335"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080877"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-mutant glioblastoma"@en ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0080878 obo:IAO_0000115 "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9440/3"^^xsd:string, "NCI:C39750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080878"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-wildtype glioblastoma"@en ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0080879 obo:IAO_0000115 "A high grade glioma that has_material_basis_in mutations in the genes encoding histones."^^xsd:string ; oboInOwl:hasExactSynonym "histone mutated tumour"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080879"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "histone mutated tumor"@en ; rdfs:subClassOf obo:DOID_3070 . obo:DOID_0080880 obo:IAO_0000115 "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080880"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse glioma, H3 G34 mutant"@en ; rdfs:subClassOf obo:DOID_0080879 . obo:DOID_0080881 obo:IAO_0000115 "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080881"^^xsd:string ; a owl:Class ; rdfs:label "pleomorphic xanthoastrocytoma BRAF mutant"@en ; rdfs:subClassOf obo:DOID_0080854 . obo:DOID_0080882 obo:IAO_0000115 "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129321"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080882"^^xsd:string ; a owl:Class ; rdfs:label "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted"@en ; rdfs:subClassOf obo:DOID_7154 . obo:DOID_0080883 obo:IAO_0000115 "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E55.0"^^xsd:string, "ICD9CM:268.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:68295002"^^xsd:string, "UMLS_CUI:C0221468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080883"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets"@en ; rdfs:subClassOf obo:DOID_0080006, obo:DOID_74, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002390 ] . obo:DOID_0080884 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277440"^^xsd:string, "ORDO:93160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080884"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 2A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080885 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600785"^^xsd:string, "ORDO:93160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080885"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 2B"@en ; rdfs:subClassOf obo:DOID_0080883 . obo:DOID_0080886 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:264700"^^xsd:string, "ORDO:289157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080886"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 1A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080887 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600081"^^xsd:string, "ORDO:289157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080887"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 1B"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080888 obo:IAO_0000115 "A spinal cord ependymoma that is characterized by MYCN amplification."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080888"^^xsd:string ; a owl:Class ; rdfs:label "spinal ependymoma, MYCN"@en ; rdfs:subClassOf obo:DOID_5503 . obo:DOID_0080889 obo:IAO_0000115 "A high grade ependymoma that is located within the posterior fossa."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080889"^^xsd:string ; a owl:Class ; rdfs:label "posterior fossa ependymoma"@en ; rdfs:subClassOf obo:DOID_5074, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008788 ] . obo:DOID_0080890 obo:IAO_0000115 "A high grade ependymoma that is located within the supratentorial brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080890"^^xsd:string ; a owl:Class ; rdfs:label "supratentorial ependymoma"@en ; rdfs:subClassOf obo:DOID_5074 . obo:DOID_0080891 obo:IAO_0000115 "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080891"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "YAP1-MAMLD1 fusion-positive supratentorial ependymoma"@en ; rdfs:subClassOf obo:DOID_0080890 . obo:DOID_0080892 obo:IAO_0000115 "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129351"^^xsd:string, "ORDO:530792"^^xsd:string ; oboInOwl:hasExactSynonym "C11orf95 fusion-positive supratentorial ependymoma"^^xsd:string, "Supratentorial C11ORF95-RELA fused ependymoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080892"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "RELA fusion-positive ependymoma"@en ; rdfs:subClassOf obo:DOID_0080890 . obo:DOID_0080893 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:13259"^^xsd:string, "OMIM:615485"^^xsd:string, "ORDO:352577"^^xsd:string ; oboInOwl:hasExactSynonym "ASXL3-related disorder"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080893"^^xsd:string ; a owl:Class ; rdfs:label "Bainbridge-Ropers syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0002054 ] . obo:DOID_0080894 obo:IAO_0000115 "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080894"^^xsd:string ; a owl:Class ; rdfs:label "lipofibromatosis-like neural tumor"@en ; rdfs:subClassOf obo:DOID_201 . obo:DOID_0080895 obo:IAO_0000115 "A hemangioma that is characterized by complete regression."^^xsd:string ; oboInOwl:hasDbXref "NCI:C172207"^^xsd:string, "ORDO:141184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080895"^^xsd:string ; a owl:Class ; rdfs:label "rapidly involuting congenital hemangioma"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080896 obo:IAO_0000115 "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080896"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "pericytoma with t(7;12)"@en ; rdfs:subClassOf obo:DOID_3316, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000199 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0001565 ] . obo:DOID_0080897 obo:IAO_0000115 "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2126"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080897"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "solitary fibrous tumor/hemangiopericytoma"@en ; rdfs:subClassOf obo:DOID_201 . obo:DOID_0080898 obo:IAO_0000115 "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616202"^^xsd:string, "ORDO:444072"^^xsd:string ; oboInOwl:hasExactSynonym "cerebellar-facial-dental syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080898"^^xsd:string ; a owl:Class ; rdfs:label "cerebellofaciodental syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080899 obo:IAO_0000115 "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung."^^xsd:string ; oboInOwl:hasDbXref "NCI:C45542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080899"^^xsd:string ; a owl:Class ; rdfs:label "lung pleomorphic carcinoma"@en ; rdfs:subClassOf obo:DOID_1324, obo:DOID_5662, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_0080900 obo:IAO_0000115 "A rhabdomyosarcoma located in the oral cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080900"^^xsd:string ; a owl:Class ; rdfs:label "oral rhabdomyosarcoma"@en ; rdfs:subClassOf obo:DOID_3247, obo:DOID_8618, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_0080901 obo:IAO_0000115 "A sarcomatoid transitional cell carcinoma that is located_in the bladder."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080901"^^xsd:string ; a owl:Class ; rdfs:label "bladder sarcomatoid transitional cell carcinoma"@en ; rdfs:subClassOf obo:DOID_11054, obo:DOID_4014, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] ) ] . obo:DOID_0080902 obo:IAO_0000115 "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080902"^^xsd:string ; a owl:Class ; rdfs:label "bladder small cell carcinoma"@en ; rdfs:subClassOf obo:DOID_4007 . obo:DOID_0080903 obo:IAO_0000115 "A central nervous system primitive neuroectodermal neoplasm that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4794"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018242"^^xsd:string, "NCI:C4915"^^xsd:string, "SNOMEDCT_US_2021_03_01:253070006"^^xsd:string, "UMLS_CUI:C0700367"^^xsd:string ; oboInOwl:hasExactSynonym "ependymoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal tumor with multilayered rosettes, C19MC-altered"@en ; rdfs:subClassOf obo:DOID_0060103 . obo:DOID_0080904 obo:IAO_0000115 "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q."^^xsd:string ; oboInOwl:hasExactSynonym "CNS high-grade neuroepithelial tumors with MN1 alteration"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080904"^^xsd:string ; a owl:Class ; rdfs:label "astroblastoma, MN1-altered"@en ; rdfs:subClassOf obo:DOID_7305 . obo:DOID_0080905 obo:IAO_0000115 "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4826"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080905"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system neuroblastoma"@en ; rdfs:subClassOf obo:DOID_4439 . obo:DOID_0080906 obo:IAO_0000115 "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."^^xsd:string ; oboInOwl:hasExactSynonym "CNS NB-FOXR2"^^xsd:string, "central nervous system neuroblastoma with FOXR2 activation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080906"^^xsd:string ; a owl:Class ; rdfs:label "CNS neuroblastoma with FOXR2 activation"@en ; rdfs:subClassOf obo:DOID_0080905 . obo:DOID_0080907 obo:IAO_0000115 "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1415"^^xsd:string, "OMIM:216400"^^xsd:string, "ORDO:90321"^^xsd:string ; oboInOwl:hasExactSynonym "Cockayne syndrome type 1"^^xsd:string, "Cockayne syndrome type I"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080907"^^xsd:string ; a owl:Class ; rdfs:label "Cockayne syndrome A"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080908 obo:IAO_0000115 "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1420"^^xsd:string, "OMIM:133540"^^xsd:string, "ORDO:90322"^^xsd:string ; oboInOwl:hasExactSynonym "Cockayne syndrome 2"^^xsd:string, "Cockayne syndrome type II"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080908"^^xsd:string ; a owl:Class ; rdfs:label "Cockayne syndrome B"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080909 obo:IAO_0000115 "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production."^^xsd:string ; oboInOwl:hasDbXref "MESH:D064129"^^xsd:string, "NCI:C130234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080909"^^xsd:string ; a owl:Class ; rdfs:label "castration-resistant prostate carcinoma"@en ; rdfs:subClassOf obo:DOID_10286 ; skos:broadMatch "MESH:D064129"^^xsd:string . obo:DOID_0080910 obo:IAO_0000115 "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis."^^xsd:string ; oboInOwl:hasDbXref "GARD:6027"^^xsd:string, "OMIM:PS214150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080910"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080911 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080911"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 1"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080912 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080912"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080913 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080913"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 3"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080914 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610758"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080914"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 4"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080915 obo:IAO_0000115 "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054747"^^xsd:string, "NCI:C27349"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080915"^^xsd:string ; a owl:Class ; rdfs:label "histiocytic sarcoma"@en ; rdfs:subClassOf obo:DOID_5621 ; skos:exactMatch "MESH:D054747"^^xsd:string . obo:DOID_0080916 obo:IAO_0000115 "An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7152"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080916"^^xsd:string ; a owl:Class ; rdfs:label "erythroleukemia"@en ; rdfs:subClassOf obo:DOID_0080780 . obo:DOID_0080917 obo:IAO_0000115 "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001357"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080917"^^xsd:string ; a owl:Class ; rdfs:label "sporatic amyotrophic lateral sclerosis"@en ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0080918 obo:IAO_0000115 "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C116936"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080918"^^xsd:string ; a owl:Class ; rdfs:label "polymicrogyria"@en ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0080919 obo:IAO_0000115 "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement."^^xsd:string ; oboInOwl:hasDbXref "ORDO:268947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080919"^^xsd:string ; a owl:Class ; rdfs:label "unilateral focal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080920 obo:IAO_0000115 "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080920"^^xsd:string ; a owl:Class ; rdfs:label "bilateral generalized polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080921 obo:IAO_0000115 "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:10783"^^xsd:string, "ORDO:208444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080921"^^xsd:string ; a owl:Class ; rdfs:label "bilateral frontal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080922 obo:IAO_0000115 "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10784"^^xsd:string, "NCI:C148367"^^xsd:string, "OMIM:606854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080922"^^xsd:string ; a owl:Class ; rdfs:label "bilateral frontoparietal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080918, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080923 obo:IAO_0000115 "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10785"^^xsd:string, "OMIM:612691"^^xsd:string, "ORDO:208441"^^xsd:string ; oboInOwl:hasExactSynonym "bilateral temporooccipital polymicrogyria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080923"^^xsd:string ; a owl:Class ; rdfs:label "bilateral parasagittal parieto-occipital polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080918, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080924 obo:IAO_0000115 "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:6011"^^xsd:string, "OMIM:615752"^^xsd:string, "ORDO:98889"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080924"^^xsd:string ; a owl:Class ; rdfs:label "bilateral perisylvian polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080925 obo:IAO_0000115 "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12664"^^xsd:string, "NCI:131302"^^xsd:string, "OMIM:613571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080925"^^xsd:string ; a owl:Class ; rdfs:label "cytochrome P450 oxidoreductase deficiency"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080926 obo:IAO_0000115 "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7."^^xsd:string ; oboInOwl:hasDbXref "GARD:12076"^^xsd:string, "OMIM:609757"^^xsd:string, "ORDO:96121"^^xsd:string ; oboInOwl:hasExactSynonym "7q11.23 microduplication syndrome"^^xsd:string, "William-Beuren region duplication syndrome"^^xsd:string, "chromosome 7q11.23 duplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080926"^^xsd:string ; a owl:Class ; rdfs:label "7q11.23 duplication syndrome"@en ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0080927 obo:IAO_0000115 "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease."^^xsd:string ; oboInOwl:hasDbXref "ORDO:439232"^^xsd:string ; oboInOwl:hasExactSynonym "AApoAIV amyloidosis"^^xsd:string, "renal AApoAIV amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080927"^^xsd:string ; a owl:Class ; rdfs:label "apolipoprotein A-IV associated amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080928 obo:IAO_0000115 "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy."^^xsd:string ; oboInOwl:hasDbXref "GARD:0010563"^^xsd:string, "ORDO:439246"^^xsd:string ; oboInOwl:hasExactSynonym "ABeta2M amyloidosis"^^xsd:string, "Amyloidosis Beta2M"^^xsd:string, "Aβ2M amyloidosis"^^xsd:string, "Beta2-microglobulinic amyloidosis"^^xsd:string, "dialysis-related beta2-microglobulin amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080928"^^xsd:string ; a owl:Class ; rdfs:label "dialysis-related amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080929 obo:IAO_0000115 "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."^^xsd:string ; oboInOwl:hasDbXref "ORDO:314652"^^xsd:string ; oboInOwl:hasExactSynonym "Autosomal dominant beta2-microglobulinic amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080929"^^xsd:string ; a owl:Class ; rdfs:label "variant ABeta2M amyloidosis"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080930 obo:IAO_0000115 "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105250"^^xsd:string ; oboInOwl:hasExactSynonym "familial primary localized cutaneous amyloidosis-1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080930"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 1"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080931 obo:IAO_0000115 "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080931"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 2"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080932 obo:IAO_0000115 "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617920"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis cutis dyschromica"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080932"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 3"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080933 obo:IAO_0000115 "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.81"^^xsd:string ; oboInOwl:hasExactSynonym "AL amyloidosis"^^xsd:string, "Light chain amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080933"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin light chain amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_114, obo:DOID_409, obo:DOID_557, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080934 obo:IAO_0000115 "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm."^^xsd:string ; oboInOwl:hasDbXref "ORDO:442582"^^xsd:string ; oboInOwl:hasExactSynonym "AH amyloidosis"^^xsd:string, "Amyloidosis derived from immunoglobulin heavy chain"^^xsd:string, "Heavy chain amyloidosis"^^xsd:string, "Ig heavy-chain–associated amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080934"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin heavy chain amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080935 obo:IAO_0000115 "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils."^^xsd:string ; oboInOwl:hasExactSynonym "AH/AL amyloidosis"^^xsd:string, "Ig heavy-and-light-chain amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080935"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin heavy-and-light chain"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_9120 . obo:DOID_0080936 obo:IAO_0000115 "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.3"^^xsd:string ; oboInOwl:hasExactSynonym "AA amyloidosis"^^xsd:string, "Apo serum amyloid A amyloidosis"^^xsd:string, "inflammation AA amyloidosis"^^xsd:string, "secondary amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080936"^^xsd:string ; a owl:Class ; rdfs:label "serum amyloid A amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_2529, obo:DOID_409, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080937 obo:IAO_0000115 "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein."^^xsd:string ; oboInOwl:hasExactSynonym "ATTRwt amyloidosis"^^xsd:string, "Age related amyloidosis"^^xsd:string, "Old age amyloidosis"^^xsd:string, "senile systemic amyloidosis"^^xsd:string, "wild-type ATTR amyloidosis"^^xsd:string, "wild-type transthyretin cardiac amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080937"^^xsd:string ; a owl:Class ; rdfs:label "wild-type amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_114, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] . obo:DOID_0080938 obo:IAO_0000115 "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent."^^xsd:string ; oboInOwl:hasExactSynonym "non-CAD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080938"^^xsd:string ; a owl:Class ; rdfs:label "nonobstructive coronary artery disease"@en ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_0080939 obo:IAO_0000115 "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080939"^^xsd:string ; a owl:Class ; rdfs:label "hereditary angioedema type I"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080940 obo:IAO_0000115 "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610618"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080940"^^xsd:string ; a owl:Class ; rdfs:label "hereditary angioedema type III"@en ; rdfs:subClassOf obo:DOID_14735 . obo:DOID_0080941 obo:IAO_0000115 "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080941"^^xsd:string ; a owl:Class ; rdfs:label "acquired angioedema"@en ; rdfs:subClassOf obo:DOID_1558 . obo:DOID_0080942 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:9657"^^xsd:string, "OMIM:PS607095"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080942"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia"@en ; rdfs:subClassOf obo:DOID_0080027 . obo:DOID_0080943 obo:IAO_0000115 "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618901"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080943"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080944 obo:IAO_0000115 "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616744"^^xsd:string ; oboInOwl:hasExactSynonym "A20 haploinsufficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080944"^^xsd:string ; a owl:Class ; rdfs:label "familial Behcet-like autoinflammatory syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080945 obo:IAO_0000115 "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080945"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060611 . obo:DOID_0080946 obo:IAO_0000115 "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618863"^^xsd:string ; oboInOwl:hasExactSynonym "ACBD5 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080946"^^xsd:string ; a owl:Class ; rdfs:label "retinal dystrophy with leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080947 obo:IAO_0000115 "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080947"^^xsd:string ; a owl:Class ; rdfs:label "acute flaccid myelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_322 . obo:DOID_0080948 obo:IAO_0000115 "A syndrome that is characterized by characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618929"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080948"^^xsd:string ; a owl:Class ; rdfs:label "agenesis of corpus callosum, cardiac, ocular, and genital syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080949 obo:IAO_0000115 "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080949"^^xsd:string ; a owl:Class ; rdfs:label "alcoholic ketoacidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050758, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0080950 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080950"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080951 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613930"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080951"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080952 obo:IAO_0000115 "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619151"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080952"^^xsd:string ; a owl:Class ; rdfs:label "AMED syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080578, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0080953 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617297"^^xsd:string ; oboInOwl:hasExactSynonym "Amelogenesis imperfecta, type IJ"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080953"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080954 obo:IAO_0000115 "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:777"^^xsd:string, "OMIM:PS617468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080954"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita"@en ; rdfs:subClassOf obo:DOID_863 . obo:DOID_0080956 obo:IAO_0000115 "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080956"^^xsd:string ; a owl:Class ; rdfs:label "childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered"@en ; rdfs:subClassOf obo:DOID_7841, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080957 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:2872"^^xsd:string, "OMIM:604091"^^xsd:string, "ORDO:425"^^xsd:string ; oboInOwl:hasExactSynonym "familial HDL deficiency"^^xsd:string, "familial hypoalphalipoproteinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080957"^^xsd:string ; a owl:Class ; rdfs:label "primary hypoalphalipoproteinemia 1"@en ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_0080958 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:758"^^xsd:string, "OMIM:618463"^^xsd:string, "ORDO:425"^^xsd:string ; oboInOwl:hasExactSynonym "Apolipoprotein A-I deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080958"^^xsd:string ; a owl:Class ; rdfs:label "primary hypoalphalipoproteinemia 2"@en ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_0080959 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080959"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 14"@en ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080960 obo:IAO_0000115 "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617217"^^xsd:string ; oboInOwl:hasExactSynonym "Amelogenesis imperfecta, hypomaturation type, IIA6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080960"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 2A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080962 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617396"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080962"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080963 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618853"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080963"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080964 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080964"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060228, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080965 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080965"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080966 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080966"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060228, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080967 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610213"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080967"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080968 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080968"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080969 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080969"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080970 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080970"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080971 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080971"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080972 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612586"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080972"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080973 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080973"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080974 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080974"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080975 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618734"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080975"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080976 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129785"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080976"^^xsd:string ; a owl:Class ; rdfs:label "acute myeloid leukemia with BCR-ABL1"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080977 obo:IAO_0000115 "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618496"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080977"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080978 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080978"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080979 obo:IAO_0000115 "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618484"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080979"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080980 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618766"^^xsd:string ; oboInOwl:hasExactSynonym "Zain syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080980"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080981 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080981"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080982 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080982"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mental retardation-hypotonic facies syndrome-1"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080984 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion."^^xsd:string ; oboInOwl:hasDbXref "GARD:2378"^^xsd:string, "OMIM:309548"^^xsd:string, "ORDO:100973"^^xsd:string ; oboInOwl:hasExactSynonym "Fragile XE syndrome"^^xsd:string, "fragile site on chromosome Xq28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080984"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual developmental disorder 109"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080985 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."^^xsd:string ; oboInOwl:hasDbXref "GARD:3307"^^xsd:string, "OMIM:309520"^^xsd:string, "ORDO:776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080985"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disorder Lujan-Fryns-type"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080986 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12474"^^xsd:string, "OMIM:130080"^^xsd:string, "ORDO:75392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080986"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome periodontal type 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080987 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12474"^^xsd:string, "OMIM:617174"^^xsd:string, "ORDO:75392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080987"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome periodontal type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080988 obo:IAO_0000115 "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "GARD:2155"^^xsd:string, "OMIM:131850"^^xsd:string, "ORDO:79410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080988"^^xsd:string ; a owl:Class ; rdfs:label "pretibial dystrophic epidermolysis bullosa"@en ; rdfs:subClassOf obo:DOID_4959 . obo:DOID_0080990 obo:IAO_0000115 "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:8433"^^xsd:string, "OMIM:145600"^^xsd:string, "ORDO:99741"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080990"^^xsd:string ; a owl:Class ; rdfs:label "King Denborough syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080991 obo:IAO_0000115 "A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."^^xsd:string ; oboInOwl:hasDbXref "GARD:10316"^^xsd:string, "OMIM:255320"^^xsd:string, "ORDO:598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080991"^^xsd:string ; a owl:Class ; rdfs:label "multiminicore disease"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080992 obo:IAO_0000115 "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080992"^^xsd:string ; a owl:Class ; rdfs:label "rhabdomyolysis-myalgia syndrome"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080994 obo:IAO_0000115 "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080994"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune epilepsy"@en ; rdfs:subClassOf obo:DOID_1826, obo:DOID_438, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0080995 obo:IAO_0000115 "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080995"^^xsd:string ; a owl:Class ; rdfs:label "tuberculous encephalopathy"@en ; rdfs:subClassOf obo:DOID_399 . obo:DOID_0080996 obo:IAO_0000115 "A diffuse kage B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36081"^^xsd:string ; oboInOwl:hasExactSynonym "DLBCL ABC type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080996"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma activated B-cell type"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080997 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080997"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma germinal center B-cell type"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080998 obo:IAO_0000115 "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080998"^^xsd:string ; a owl:Class ; rdfs:label "acute necrotizing pancreatitis"@en ; rdfs:subClassOf obo:DOID_2913 . obo:DOID_0080999 obo:IAO_0000115 "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000081032"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080999"^^xsd:string ; a owl:Class ; rdfs:label "acute hemorrhagic pancreatitis"@en ; rdfs:subClassOf obo:DOID_2913 . obo:DOID_0081000 obo:IAO_0000115 "A Cowden syndrome that has_material_ basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081000"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 4"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081001 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081001"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 5"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081002 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081002"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 6"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081003 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081003"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 7"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081004 obo:IAO_0000115 "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C125904"^^xsd:string ; oboInOwl:hasExactSynonym "HGBL-DH/TH"^^xsd:string, "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081004"^^xsd:string ; a owl:Class ; rdfs:label "high-grade B-cell lymphoma double-hit/triple-hit"@en ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0081005 obo:IAO_0000115 "A vegetable allergy triggered by parsley (Petroselinum)." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081005" ; a owl:Class ; rdfs:label "parsley allergy"@en ; rdfs:subClassOf obo:DOID_0070334 . obo:DOID_0081006 obo:IAO_0000115 "A food allergy triggered by dill (Anethum graveolens)." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081006" ; a owl:Class ; rdfs:label "dill allergy"@en ; rdfs:subClassOf obo:DOID_0070334 . obo:DOID_0081007 obo:IAO_0000115 "A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment." ; oboInOwl:hasDbXref "GARD:13199", "OMIM:612951", "ORDO:85136" ; oboInOwl:hasExactSynonym "cystic leukoencephalopathy without megalencephaly", "infantile-onset RNASET2 deficient cystic leukoencephalopathy" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081007" ; a owl:Class ; rdfs:label "RNASET2-deficient cystic leukoencephalopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081008 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21." ; oboInOwl:hasDbXref "OMIM:617173", "ORDO:542306" ; oboInOwl:hasExactSynonym "GNB5-related intellectual disability-cardiac arrhythmia syndrome" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081008" ; a owl:Class ; rdfs:label "intellectual developmental disorder with cardiac arrhythmia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081009 obo:IAO_0000115 "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23." ; oboInOwl:hasDbXref "OMIM:619471" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081009" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 20"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081010 obo:IAO_0000115 "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22." ; oboInOwl:hasDbXref "OMIM:617406" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081010" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 21"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081011 obo:IAO_0000115 "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21." ; oboInOwl:hasDbXref "OMIM:617119" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081011" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 22"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090001 obo:IAO_0000115 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:6465"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:D058497"^^xsd:string, "OMIM:PS219000"^^xsd:string, "ORDO:2052"^^xsd:string ; oboInOwl:hasExactSynonym "cryptophthalmos with other malformations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090001"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090002 obo:IAO_0000115 "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:7772"^^xsd:string, "OMIM:103500"^^xsd:string, "ORDO:42665"^^xsd:string ; oboInOwl:hasExactSynonym "Tietz albinism-deafness syndrome"@en, "albinism-deafness of Tietz"@en, "hypopigmentation/deafness of Tietz"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090002"^^xsd:string ; a owl:Class ; rdfs:label "Tietz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090003 obo:IAO_0000115 "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060600"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:218000"^^xsd:string, "ORDO:1496"^^xsd:string ; oboInOwl:hasExactSynonym "Andermann syndrome"@en, "Charlevoix disease"@en, "corpus callosum agenesis-neuronopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090003"^^xsd:string ; a owl:Class ; rdfs:label "agenesis of the corpus callosum with peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090004 obo:IAO_0000115 "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.7"^^xsd:string, "OMIM:208230"^^xsd:string, "ORDO:1159"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090004"^^xsd:string ; a owl:Class ; rdfs:label "progressive pseudorheumatoid arthropathy of childhood"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0090005 obo:IAO_0000115 "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:250"^^xsd:string, "ICD10CM:G71.1"^^xsd:string, "OMIM:255800"^^xsd:string, "ORDO:800"^^xsd:string ; oboInOwl:hasExactSynonym "Aberfeld syndrome"@en, "Burton skeletal dysplasia"@en, "Burton syndrome"@en, "Catel-Hempel syndrome"@en, "Catel-Hempel type dysostosis enchondralis metaepiphysaria"@en, "Schwartz-Jampel syndrome type 1"@en, "Schwartz-Jampel-Aberfeld syndrome"@en, "myotonic chondrodystrophy"@en, "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies"@en, "osteochondromuscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090005"^^xsd:string ; a owl:Class ; rdfs:label "Schwartz-Jampel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090006 obo:IAO_0000115 "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:4106"^^xsd:string, "ICD10CM:Q60.4"^^xsd:string, "OMIM:120330"^^xsd:string, "ORDO:1475"^^xsd:string ; oboInOwl:hasExactSynonym "CAKUT with or without ocular abnormalities"@en, "coloboma of optic nerve with renal disease"@en, "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"@en, "optic coloboma, vesicoureteral reflux and renal anomalies"@en, "papillo-renal syndrome, optic nerve coloboma with renal disease"@en, "papillorenal syndrome"@en, "renal-coloboma syndrome with macular abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090006"^^xsd:string ; a owl:Class ; rdfs:label "renal coloboma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090007 obo:IAO_0000115 "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:PS242860"^^xsd:string, "ORDO:2268"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090007"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090008 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:242860"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090008"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090009 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:614069"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090009"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090010 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:616910"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090010"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090011 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:616911"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090011"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090012 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060006"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.1"^^xsd:string, "OMIM:602450"^^xsd:string, "ORDO:275"^^xsd:string ; oboInOwl:hasExactSynonym "SCID due to DCLRE1C deficiency"@en, "SCID due to artemis deficiency"@en, "SCID, Athabascan type"@en, "SCID, Athabaskan type"@en, "Severe combined immunodeficiency due to DCLRE1C deficiency"@en, "Severe combined immunodeficiency due to artemis deficiency"@en, "Severe combined immunodeficiency, Athabascan type"@en, "Severe combined immunodeficiency, Athabaskan type"@en, "artemis deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090012"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency with sensitivity to ionizing radiation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090013 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.1"^^xsd:string, "OMIM:601457"^^xsd:string, "ORDO:331206"^^xsd:string ; oboInOwl:hasExactSynonym "SCID due to complete RAG1-2 deficiency"@en, "Severe combined immunodeficiency due to complete RAG1-2 deficiency"@en, "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090013"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090014 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.2"^^xsd:string, "OMIM:608971"^^xsd:string, "ORDO:169154"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090014"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090015 obo:IAO_0000115 "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:5084"^^xsd:string, "ICD10CM:Q78.4"^^xsd:string, "OMIM:212780"^^xsd:string, "ORDO:3258"^^xsd:string ; oboInOwl:hasExactSynonym "syndactyly type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090015"^^xsd:string ; a owl:Class ; rdfs:label "Cenani-Lenz syndactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0090016 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10840"^^xsd:string, "ICD10CM:D46.7"^^xsd:string, "OMIM:153550"^^xsd:string, "ORDO:86841"^^xsd:string ; oboInOwl:hasExactSynonym "5q- syndrome, refractory macrocytic anemia due to 5q deletion"@en, "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090016"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 5q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0090017 obo:IAO_0000115 "An syndrome characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:226670"^^xsd:string, "ORDO:257"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"@en, "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090017"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex with muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090018 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:8457"^^xsd:string, "ICD10CM:E85.0"^^xsd:string, "OMIM:142680"^^xsd:string, "ORDO:32960"^^xsd:string ; oboInOwl:hasExactSynonym "TNF receptor 1-associated periodic syndrome"@en, "familial Hibernian fever"@en, "tumor necrosis factor receptor 1 associated periodic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090018"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant familial periodic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090019 obo:IAO_0000115 "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:7653"^^xsd:string, "MESH:C537345"^^xsd:string, "NCI:C125694"^^xsd:string, "OMIM:210250"^^xsd:string, "ORDO:2882"^^xsd:string, "SNOMEDCT_US_2021_03_01:238104009"^^xsd:string, "UMLS_CUI:C0342907"^^xsd:string ; oboInOwl:hasExactSynonym "phytosterolemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090019"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sitosterolemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090020 obo:IAO_0000115 "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting."^^xsd:string ; oboInOwl:hasDbXref "GARD:6319"^^xsd:string, "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:PS183600"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "lobster-claw deformity"@en, "split-hand deformity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090020"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090021 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "OMIM:183600"^^xsd:string, "ORDO:2440"^^xsd:string ; oboInOwl:hasExactSynonym "SHFD1"@en, "SHFM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090021"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090022 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:606708"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090022"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090023 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:605289"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090023"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090024 obo:IAO_0000115 "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "OMIM:220600"^^xsd:string, "ORDO:71271"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM1D"@en, "congenital deafness with split hands and feet"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090024"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 1 with sensorineural hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090025 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:246560"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM3"@en, "chromosome 10q24 duplication syndrome"@en, "distal limb deficiencies with micrognathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090025"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0090020, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090026 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:225300"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090026"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090027 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:313350"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090027"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090028 obo:IAO_0000115 "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535393"^^xsd:string, "NCI:C155996"^^xsd:string, "OMIM:277460"^^xsd:string, "ORDO:96"^^xsd:string, "SNOMEDCT_US_2021_03_01:702442008"^^xsd:string, "UMLS_CUI:C1848533"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia with isolated vitamin E deficiency"@en, "familial isolated vitamin E deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090028"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated deficiency of vitamin E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090029 obo:IAO_0000115 "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.0"^^xsd:string, "OMIM:607115"^^xsd:string, "ORDO:1451"^^xsd:string ; oboInOwl:hasExactSynonym "IOMID syndrome"@en, "NOMID syndrome"@en, "Prieur-Griscelli syndrome"@en, "chronic infantile neurological cutaneous articular syndrome"@en, "chronic neurologic cutaneous and articular syndrome"@en, "cryopyrin-associated periodic syndrome 3"@en, "infantile-onset multisystem inflammatory disease"@en, "neonatal-onset multisystem inflammatory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090029"^^xsd:string ; a owl:Class ; rdfs:label "CINCA Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090030 obo:IAO_0000115 "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:13101"^^xsd:string, "ICD10CM:E27.8"^^xsd:string, "OMIM:611489"^^xsd:string, "ORDO:199247"^^xsd:string ; oboInOwl:hasExactSynonym "CBG deficiency"@en, "transcortin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090030"^^xsd:string ; a owl:Class ; rdfs:label "corticosteroid-binding globulin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0090031 obo:IAO_0000115 "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4539"^^xsd:string, "ICD10CM:E71.3"^^xsd:string, "OMIM:261515"^^xsd:string, "ORDO:300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090031"^^xsd:string ; a owl:Class ; rdfs:label "D-bifunctional protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090032 obo:IAO_0000115 "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.7"^^xsd:string, "OMIM:224410"^^xsd:string, "ORDO:1865"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090032"^^xsd:string ; a owl:Class ; rdfs:label "Silverman-Handmaker type dyssegmental dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090033 obo:IAO_0000115 "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090033"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0090034 obo:IAO_0000115 "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:159900"^^xsd:string, "ORDO:36899"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090034"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090035 obo:IAO_0000115 "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607488"^^xsd:string, "ORDO:210566"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090035"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090036 obo:IAO_0000115 "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090036"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090037 obo:IAO_0000115 "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:607671"^^xsd:string, "ORDO:98807"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090037"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090038 obo:IAO_0000115 "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:224500"^^xsd:string, "ORDO:99657"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090038"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090039 obo:IAO_0000115 "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:602629"^^xsd:string, "ORDO:98806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090039"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090040 obo:IAO_0000115 "A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602124"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090040"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090041 obo:IAO_0000115 "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128101"^^xsd:string, "ORDO:98805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090041"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090042 obo:IAO_0000115 "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:612406"^^xsd:string, "ORDO:370103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090042"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090043 obo:IAO_0000115 "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128230"^^xsd:string, "ORDO:98808"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090043"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090044 obo:IAO_0000115 "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:601042"^^xsd:string, "ORDO:53583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090044"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090045 obo:IAO_0000115 "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:612126"^^xsd:string, "ORDO:98811"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090045"^^xsd:string ; a owl:Class ; rdfs:label "childhood onset GLUT1 deficiency syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0090046 obo:IAO_0000115 "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:614588"^^xsd:string, "ORDO:306734"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090046"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090047 obo:IAO_0000115 "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:611147"^^xsd:string, "ORDO:98810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090047"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal nonkinesigenic dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090048 obo:IAO_0000115 "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10539"^^xsd:string, "ICD10CM:G24.1"^^xsd:string, "OMIM:612067"^^xsd:string, "ORDO:210571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090048"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050837, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090049 obo:IAO_0000115 "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:118800"^^xsd:string, "ORDO:98810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090049"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal nonkinesigenic dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090050 obo:IAO_0000115 "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:616411"^^xsd:string, "ORDO:464440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090050"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050838, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090051 obo:IAO_0000115 "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:614860"^^xsd:string, "ORDO:420492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090051"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090052 obo:IAO_0000115 "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:615034"^^xsd:string, "ORDO:420485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090052"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090053 obo:IAO_0000115 "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:8721"^^xsd:string, "ICD10CM:G24.8"^^xsd:string, "OMIM:128200"^^xsd:string, "ORDO:98809"^^xsd:string ; oboInOwl:hasExactSynonym "Paroxysmal kinesigenic choreoathetosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090053"^^xsd:string ; a owl:Class ; rdfs:label "episodic kinesigenic dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090054 obo:IAO_0000115 "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:611031"^^xsd:string, "ORDO:98809"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090054"^^xsd:string ; a owl:Class ; rdfs:label "episodic kinesigenic dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090055 obo:IAO_0000115 "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:615073"^^xsd:string, "ORDO:329466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090055"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050837, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090056 obo:IAO_0000115 "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128235"^^xsd:string, "ORDO:71517"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090056"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090057 obo:IAO_0000115 "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10533"^^xsd:string, "ICD10CM:G24.1"^^xsd:string, "OMIM:314250"^^xsd:string, "ORDO:53351"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090057"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dystonia-parkinsonism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0090058 obo:IAO_0000115 "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:602554"^^xsd:string, "ORDO:256"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090058"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia with onset in infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090059 obo:IAO_0000115 "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564835"^^xsd:string, "OMIM:268100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090059"^^xsd:string ; a owl:Class ; rdfs:label "enhanced S-cone syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090060 obo:IAO_0000115 "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13"^^xsd:string, "MESH:C536739"^^xsd:string, "OMIM:226980"^^xsd:string, "ORDO:1667"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090060"^^xsd:string ; a owl:Class ; rdfs:label "Wolcott-Rallison syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0090061 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:PS120100"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090061"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0090062 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:120100"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090062"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090063 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567090"^^xsd:string, "OMIM:611762"^^xsd:string ; oboInOwl:hasExactSynonym "NLRP12-associated hereditary periodic fever syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090063"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090064 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:614468"^^xsd:string, "ORDO:300359"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090064"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090065 obo:IAO_0000115 "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:616115"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090065"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090066 obo:IAO_0000115 "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090066"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0090067 obo:IAO_0000115 "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2410"^^xsd:string, "ICD10CM:Q74.8"^^xsd:string, "MESH:C538189"^^xsd:string, "OMIM:228930"^^xsd:string, "ORDO:2854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090067"^^xsd:string ; a owl:Class ; rdfs:label "Fuhrmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090068 obo:IAO_0000115 "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056768"^^xsd:string, "OMIM:256850"^^xsd:string, "ORDO:643"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090068"^^xsd:string ; a owl:Class ; rdfs:label "giant axonal neuropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_7319, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090069 obo:IAO_0000115 "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090069"^^xsd:string ; a owl:Class ; rdfs:label "giant axonal neuropathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7319, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0090070 obo:IAO_0000115 "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7455"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:PS147950"^^xsd:string, "ORDO:432"^^xsd:string, "ORDO:478"^^xsd:string ; oboInOwl:hasExactSynonym "congenital idiopathic hypogonadotropic hypogonadism"@en, "hypogonadotropism"^^xsd:string, "isolated congenital gonadotropin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090070"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_1924 . obo:DOID_0090071 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090071"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 11 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090072 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614841"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypogonadotrophic eunuchoidism"@en, "familial idiopathic gonadotrpin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090072"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 12 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090073 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614842"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090073"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 13 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090074 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614837"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090074"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 8 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090075 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614880"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090075"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 15 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090076 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615267"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090076"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 18 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090077 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:610628"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090077"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 4 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090078 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:146110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090078"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 7 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090079 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615266"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090079"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 17 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090080 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614897"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090080"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 16 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090081 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:616030"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090081"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 22 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090082 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090082"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 20 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090083 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:147950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090083"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 2 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090084 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090084"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 5 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090085 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614838"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090085"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 9 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090086 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090086"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 6 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090087 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090087"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 14 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090088 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.6"^^xsd:string, "OMIM:229070"^^xsd:string, "ORDO:52901"^^xsd:string ; oboInOwl:hasExactSynonym "isolated follicle-stimulating hormone deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090088"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 24 without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090089 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090089"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 10 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090090 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615269"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090090"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 19 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090091 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q56.1"^^xsd:string, "OMIM:228300"^^xsd:string, "ORDO:325448"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to LHB deficiency"@en, "46,XY DSD due to luteinizing hormone subunit beta deficiency"@en, "46,XY disorder of sex development due to LHB deficiency"@en, "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency"@en, "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"@en, "Pasqualini syndrome"@en, "fertile eunuch syndrome"@en, "leydig cell hypoplasia due to LHB deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090091"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 23 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090092 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:244200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090092"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 3 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090093 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090093"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 21 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090094 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:308700"^^xsd:string ; oboInOwl:hasExactSynonym "dysplasia olfactogenitalis of de morsier"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090094"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 1 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0090100 obo:IAO_0000115 "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.3"^^xsd:string, "ORDO:352740"^^xsd:string ; oboInOwl:hasExactSynonym "WS2-OA"@en, "autosomal recessive Waardenburg syndrome type 2 with ocular albinism"@en, "digenic Waardenburg syndrome/albinism"@en, "digenic Waardenburg syndrome/ocular albinism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090100"^^xsd:string ; a owl:Class ; rdfs:label "ocular albinism with sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050633, obo:DOID_0050736, obo:DOID_0080578, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0090101 obo:IAO_0000115 "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0+"^^xsd:string, "ICD10CM:G73.6*"^^xsd:string, "OMIM:261740"^^xsd:string, "ORDO:439854"^^xsd:string ; oboInOwl:hasExactSynonym "fatal congenital hypertrophic cardiomyopathy due to GSD"@en, "fatal congenital hypertrophic cardiomyopathy due to glycogenosis"@en, "fatal congenital nonlysosomal cardiac glycogenosis"@en, "phosphorylase kinase deficiency of heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090101"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital glycogen storage disease of heart"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2747, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090102 obo:IAO_0000115 "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:613112"^^xsd:string, "ORDO:140957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090102"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant macrothrombocytopenia TUBB1-related"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090103 obo:IAO_0000115 "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G10"^^xsd:string, "OMIM:603218"^^xsd:string, "ORDO:157941"^^xsd:string ; oboInOwl:hasExactSynonym "HDL1"@en, "HLN1"@en, "Huntington disease-like 1"@en, "Huntington-like neurodegenerative disorder 1"@en, "autosomal dominant Huntington-like neurodegenerative disorder"@en, "early-onset prion disease with prominent psychiatric features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090103"^^xsd:string ; a owl:Class ; rdfs:label "Huntington's disease-like 1"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_0090104 obo:IAO_0000115 "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G10"^^xsd:string, "OMIM:606438"^^xsd:string, "ORDO:98934"^^xsd:string ; oboInOwl:hasExactSynonym "HDL2"@en, "Huntington disease-like 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090104"^^xsd:string ; a owl:Class ; rdfs:label "Huntington's disease-like 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0090105 obo:IAO_0000115 "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.0"^^xsd:string, "OMIM:603813"^^xsd:string, "ORDO:391665"^^xsd:string ; oboInOwl:hasExactSynonym "ARH"@en, "ARH1"@en, "ARH2"@en, "FHCB1"@en, "FHCB2"@en, "autosomal recessive hypercholesterolemia 1"@en, "autosomal recessive hypercholesterolemia 2"@en, "familial autosomal recessive hypercholesterolemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090105"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hypercholesterolemia"^^xsd:string ; rdfs:subClassOf obo:DOID_13810, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090106 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5682"^^xsd:string, "MESH:C535325"^^xsd:string, "NCI:C138171"^^xsd:string, "OMIM:261640"^^xsd:string, "ORDO:13"^^xsd:string, "SNOMEDCT_US_2021_03_01:237914002"^^xsd:string, "UMLS_CUI:C0878676"^^xsd:string ; oboInOwl:hasExactSynonym "6-pyruvoyl-tetrahydropterin synthase deficiency"@en, "HPABH4A"@en, "PTS deficiency"@en, "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"@en, "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "BH4-deficient hyperphenylalaninemia A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090107 obo:IAO_0000115 "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601198"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090107"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090109 . obo:DOID_0090108 obo:IAO_0000115 "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615361"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090108"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090109 . obo:DOID_0090109 obo:IAO_0000115 "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone."^^xsd:string ; oboInOwl:hasDbXref "GARD:2877"^^xsd:string, "ICD10CM:E20.8"^^xsd:string, "OMIM:PS601198"^^xsd:string, "ORDO:428"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090109"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090110 obo:IAO_0000115 "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1850"^^xsd:string, "ICD10CM:E31.0"^^xsd:string, "OMIM:304790"^^xsd:string, "ORDO:37042"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune enteropathy type 1"@en, "DMSD"@en, "IDDM-secretory diarrhea syndrome"@en, "IPEX"@en, "X-linked autoimmunity-allergic dysregulation syndrome"@en, "XLAAD"@en, "XPID"@en, "autoimmunity-immunodeficiency syndrome, X-linked"@en, "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea"@en, "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked"@en, "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked"@en, "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090110"^^xsd:string ; a owl:Class ; rdfs:label "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0090111 obo:IAO_0000115 "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:609136"^^xsd:string, "ORDO:163746"^^xsd:string ; oboInOwl:hasExactSynonym "Neurologic Waardenburg-Shah syndrome"@en, "PCWH"@en, "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"@en, "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090111"^^xsd:string ; a owl:Class ; rdfs:label "PCWH syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090112 obo:IAO_0000115 "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9921"^^xsd:string, "MESH:C536329"^^xsd:string, "OMIM:221770"^^xsd:string, "ORDO:2770"^^xsd:string, "SNOMEDCT_US_2021_03_01:702347001"^^xsd:string, "UMLS_CUI:C1857316"^^xsd:string ; oboInOwl:hasExactSynonym "NHD"@en, "PLO-SL"@en, "PLOSL"@en, "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"@en, "presenile dementia with bone cysts"@en, "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090112"^^xsd:string ; a owl:Class ; rdfs:label "Nasu-Hakola disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090113 obo:IAO_0000115 "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D82.8"^^xsd:string, "MESH:C567453"^^xsd:string, "OMIM:611943"^^xsd:string, "ORDO:420741"^^xsd:string ; oboInOwl:hasExactSynonym "RNF168 deficiency"@en, "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090113"^^xsd:string ; a owl:Class ; rdfs:label "RIDDLE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090114 obo:IAO_0000115 "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:136900"^^xsd:string ; oboInOwl:hasExactSynonym "SFD"@en, "hemorrhagic macular dystrophy"@en, "pseudoinflammatory fundus dystrophy of Sorsby"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090114"^^xsd:string ; a owl:Class ; rdfs:label "Sorsby's fundus dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090115 obo:IAO_0000115 "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10000"^^xsd:string, "ICD10CM:G60.2"^^xsd:string, "OMIM:607250"^^xsd:string, "ORDO:94124"^^xsd:string ; oboInOwl:hasExactSynonym "SCAN1"@en, "autosomal recessive spinocerebellar ataxia with axonal neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090115"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 1 with axonal neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090116 obo:IAO_0000115 "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4974"^^xsd:string, "ICD10CM:Q76.4"^^xsd:string, "OMIM:272460"^^xsd:string, "ORDO:3275"^^xsd:string ; oboInOwl:hasExactSynonym "SCT"@en, "congenital scoliosis with unilateral unsegmented bar"@en, "congenital synspondylism"@en, "spondylocarpotarsal syndrome"@en, "spondylocarpotarsal synostosis"@en, "vertebral fusion with carpal coalition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090116"^^xsd:string ; a owl:Class ; rdfs:label "spondylocarpotarsal synostosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0090117 obo:IAO_0000115 "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9210"^^xsd:string, "MESH:C536510"^^xsd:string, "OMIM:249270"^^xsd:string, "ORDO:498277"^^xsd:string, "SNOMEDCT_US_2021_03_01:237617006"^^xsd:string, "UMLS_CUI:C0342287"^^xsd:string ; oboInOwl:hasExactSynonym "Rogers syndrome"@en, "THMD1"@en, "TRMA"@en, "thiamine metabolism dysfunction syndrome 1"@en, "thiamine-responsive anaemia syndrome"@en, "thiamine-responsive anemia syndrome"@en, "thiamine-responsive megaloblastic anaemia syndrome"@en, "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness"@en, "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"@en, "thiamine-responsive myelodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090117"^^xsd:string ; a owl:Class ; rdfs:label "thiamine-responsive megaloblastic anemia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090118 obo:IAO_0000115 "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:640"^^xsd:string, "MESH:C535982"^^xsd:string, "NCI:C115207"^^xsd:string, "OMIM:604498"^^xsd:string, "ORDO:3319"^^xsd:string, "SNOMEDCT_US_2021_03_01:716336002"^^xsd:string, "UMLS_CUI:C1327915"^^xsd:string ; oboInOwl:hasExactSynonym "CAMT"@en, "congenital amegakaryocytic thrombocytopenic purpura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital amegakaryocytic thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_1588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0090119 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535289"^^xsd:string, "OMIM:106260"^^xsd:string, "ORDO:1071"^^xsd:string, "SNOMEDCT_US_2021_03_01:7731005"^^xsd:string, "UMLS_CUI:C1785148"^^xsd:string ; oboInOwl:hasExactSynonym "AEC syndrome"@en, "Hay-Wells syndrome"@en, "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090119"^^xsd:string ; a owl:Class ; rdfs:label "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090120 obo:IAO_0000115 "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563010"^^xsd:string, "OMIM:162830"^^xsd:string, "ORDO:279943"^^xsd:string, "SNOMEDCT_US_2021_03_01:129639005"^^xsd:string, "UMLS_CUI:C0543669"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090120"^^xsd:string ; a owl:Class ; rdfs:label "hereditary neutrophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090121 obo:IAO_0000115 "An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16."^^xsd:string ; oboInOwl:hasExactSynonym "Ulick syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete apparent mineralocorticoid excess"^^xsd:string ; owl:deprecated true . obo:DOID_0090122 obo:IAO_0000115 "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:12949"^^xsd:string, "ICD10CM:E30.1"^^xsd:string, "OMIM:139300"^^xsd:string, "ORDO:178345"^^xsd:string ; oboInOwl:hasExactSynonym "AEXS"@en, "familial hyperestrogenism"@en, "hereditary prepubertal gynecomastia"@en, "increased aromatase activity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090122"^^xsd:string ; a owl:Class ; rdfs:label "aromatase excess syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_15 . obo:DOID_0090123 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:770"^^xsd:string, "ICD10CM:E70.81"^^xsd:string, "MESH:C537437"^^xsd:string, "NCI:C142085"^^xsd:string, "OMIM:608643"^^xsd:string, "ORDO:35708"^^xsd:string, "SNOMEDCT_US_2021_03_01:124600004"^^xsd:string, "UMLS_CUI:C1291564"^^xsd:string ; oboInOwl:hasExactSynonym "AADC deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090123"^^xsd:string ; a owl:Class ; rdfs:label "aromatic L-amino acid decarboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090124 obo:IAO_0000115 "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536614"^^xsd:string, "OMIM:208100"^^xsd:string, "ORDO:1143"^^xsd:string, "SNOMEDCT_US_2021_03_01:715316005"^^xsd:string, "UMLS_CUI:C1859721"^^xsd:string ; oboInOwl:hasExactSynonym "AMC neurogenic type"@en, "AMC2"^^xsd:string, "AMCN"@en, "arthrogryposis multiplex congenita 2, neurogenic type"^^xsd:string, "arthrogryposis multiplex congenita neurogenic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090124"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic-type arthrogryposis multiplex congenita-2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090125 obo:IAO_0000115 "A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175780"^^xsd:string, "ORDO:36383"^^xsd:string ; oboInOwl:hasExactSynonym "BSVD"@en, "COL4A1-related brain small vessel disease with hemorrhage"@en, "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome"@en, "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy"@en, "brain small vessel disease with Axenfeld-Riegar anomaly"@en, "brain small vessel disease with hemorrhage"@en, "brain small vessel disease with or without ocular anomalies"@en, "infantile hemiparesis"@en, "leukoencephalopathy with Axenfeld-Riegar anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090125"^^xsd:string ; a owl:Class ; rdfs:label "COL4A1-related familial vascular leukoencephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090126 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:614923"^^xsd:string, "ORDO:308410"^^xsd:string ; oboInOwl:hasExactSynonym "BCKDK deficiency"@en, "BCKDKD"@en, "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090126"^^xsd:string ; a owl:Class ; rdfs:label "branched-chain keto acid dehydrogenase kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090127 obo:IAO_0000115 "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537560"^^xsd:string, "OMIM:208250"^^xsd:string, "ORDO:2848"^^xsd:string, "SNOMEDCT_US_2021_03_01:771187008"^^xsd:string, "UMLS_CUI:C1859690"^^xsd:string ; oboInOwl:hasExactSynonym "CACP"@en, "CACP syndrome"@en, "CAP syndrome"@en, "Jacobs syndrome"@en, "PAC syndrome"@en, "arthropathy-camptodactyly syndrome"@en, "camptodactyly-arthropathy-pericarditis syndrome"@en, "congenital familial hypertrophic synovitis"@en, "familial fibrosing serositis"@en, "pericarditis-arthropathy-camptodactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090127"^^xsd:string ; a owl:Class ; rdfs:label "camptodactyly-arthropathy-coxa vara-pericarditis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000876 ] . obo:DOID_0090128 obo:IAO_0000115 "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:5595"^^xsd:string, "OMIM:605676"^^xsd:string, "ORDO:65282"^^xsd:string ; oboInOwl:hasExactSynonym "DCWHK"@en, "dilated cardiomyopathy with woolly hair and keratoderma"@en, "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090128"^^xsd:string ; a owl:Class ; rdfs:label "Carvajal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080551 . obo:DOID_0090129 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1120"^^xsd:string, "ICD10CM:E71.3"^^xsd:string, "OMIM:255120"^^xsd:string, "ORDO:156"^^xsd:string ; oboInOwl:hasExactSynonym "CPT I deficiency"@en, "CPT1A deficiency"@en, "L-CPT1 deficiency"@en, "carnitine palmitoyl transferase 1A deficiency"@en, "carnitine palmitoyl transferase IA deficiency"@en, "hepatic CPT deficiency type I"@en, "hepatic carnitine palmitoyl transferase 1 deficiency"@en, "hepatic carnitine palmitoyl transferase I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090129"^^xsd:string ; a owl:Class ; rdfs:label "carnitine palmitoyltransferase I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090130 obo:IAO_0000115 "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.8"^^xsd:string, "OMIM:610042"^^xsd:string, "ORDO:163681"^^xsd:string ; oboInOwl:hasExactSynonym "CDFE syndrome"@en, "CDFES"@en, "PTHSL1"@en, "Pitt-Hopkins-like syndrome-1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090130"^^xsd:string ; a owl:Class ; rdfs:label "cortical dysplasia-focal epilepsy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090131 obo:IAO_0000115 "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS614039"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090131"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090132 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610031"^^xsd:string, "ORDO:300573"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM7"@en, "polymicrogyria due to TUBB2B mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090132"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090133 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615282"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090133"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090134 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615411"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090134"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090135 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615763"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090135"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090136 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615771"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090136"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090137 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614039"^^xsd:string, "ORDO:300570"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM1"@en, "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090137"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090138 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615412"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090138"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090139 obo:IAO_0000115 "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."^^xsd:string ; oboInOwl:hasDbXref "GARD:9882"^^xsd:string, "MESH:C536447"^^xsd:string, "OMIM:PS604931"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090139"^^xsd:string ; a owl:Class ; rdfs:label "cortisone reductase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_28 . obo:DOID_0090140 obo:IAO_0000115 "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C131084"^^xsd:string, "OMIM:614662"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortisone reductase deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090139, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090141 obo:IAO_0000115 "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "NCI:C131849"^^xsd:string, "OMIM:604931"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090141"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortisone reductase deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090139, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090142 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "GARD:2428"^^xsd:string, "ICD10CM:E72.19"^^xsd:string, "MESH:C535408"^^xsd:string, "NCI:C129070"^^xsd:string, "OMIM:219500"^^xsd:string, "ORDO:212"^^xsd:string, "SNOMEDCT_US_2021_03_01:13003007"^^xsd:string, "SNOMEDCT_US_2021_03_01:6885006"^^xsd:string, "UMLS_CUI:C0220993"^^xsd:string, "UMLS_CUI:C0268616"^^xsd:string ; oboInOwl:hasExactSynonym "cystathionase deficiency"@en, "cystathione gamma-lyase deficiency syndrome"@en, "gamma-cystathionase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090142"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystathioninuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090143 obo:IAO_0000115 "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5478"^^xsd:string, "ICD10CM:Q76.3"^^xsd:string, "OMIM:601216"^^xsd:string, "ORDO:2899"^^xsd:string ; oboInOwl:hasExactSynonym "DASS"@en, "STHAG6"@en, "dental anomalies and short stature"@en, "platyspondyly with amelogenesis imperfecta"@en, "selective tooth agenesis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090143"^^xsd:string ; a owl:Class ; rdfs:label "brachyolmia-amelogenesis imperfecta syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090144 obo:IAO_0000115 "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1899"^^xsd:string, "MESH:C536390"^^xsd:string, "OMIM:222448"^^xsd:string, "ORDO:2143"^^xsd:string, "SNOMEDCT_US_2021_03_01:702418009"^^xsd:string, "UMLS_CUI:C1857277"^^xsd:string ; oboInOwl:hasExactSynonym "DBS/FOAR syndrome"@en, "FOAR syndrome"@en, "Holmes-Schepens syndrome"@en, "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria"@en, "diaphragmatic hernia-exomphalos-hypertelorism syndrome"@en, "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome"@en, "facio-oculo-acoustico-renal syndrome"@en, "faciooculoacousticorenal syndrome"@en, "syndrome of ocular and facial anomalies, telecanthus and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090144"^^xsd:string ; a owl:Class ; rdfs:label "Donnai-Barrow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090145 obo:IAO_0000115 "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1903"^^xsd:string, "MESH:C535600"^^xsd:string, "OMIM:223360"^^xsd:string, "ORDO:230"^^xsd:string, "SNOMEDCT_US_2021_03_01:237923004"^^xsd:string, "UMLS_CUI:C0342687"^^xsd:string ; oboInOwl:hasExactSynonym "congenital dopamine beta-hydroxylase deficiency"@en, "noradrenaline deficiency"@en, "norepinephrine deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090145"^^xsd:string ; a owl:Class ; rdfs:label "dopamine beta-hydroxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] . obo:DOID_0110000 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610198"^^xsd:string, "ORDO:66634"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type V"@en, "DCMA"@en, "DCMA syndrome"@en, "MGA5"@en, "MGCA5"@en, "dilated cardiomyopathy with ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110000"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110001 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614739"^^xsd:string, "ORDO:352328"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 6"@en, "MEGDEL"@en, "MEGDEL syndrome"@en, "MGCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110001"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110002 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:250950"^^xsd:string, "ORDO:67046"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type I"@en, "3-methylglutaconyl-CoA hydratase deficiency"@en, "3MG-CoA hydratase deficiency"@en, "MGA type I"@en, "MGA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110002"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110003 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616271"^^xsd:string, "ORDO:445038"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 7"@en, "3-methylglutaconic aciduria type VII"@en, "MEGCANN"@en, "MGA7"@en, "MGCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110003"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110004 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258501"^^xsd:string, "ORDO:67047"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type III"@en, "Costeff optic atrophy syndrome"@en, "Costeff syndrome"@en, "Iraqi-Jewish optic atrophy plus"@en, "MGA3"@en, "autosomal recessive optic atrophy plus syndrome"@en, "autosomal recessive optic atrophy type 3"@en, "infantile optic atrophy with chorea and spastic paraplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110004"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110005 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608553"^^xsd:string ; oboInOwl:hasExactSynonym "LCA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110005"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110006 obo:IAO_0000115 "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid."^^xsd:string ; oboInOwl:hasDbXref "OMIM:250951"^^xsd:string, "ORDO:67048"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type IV"@en, "MGA type IV"@en, "MGA4"@en, "MGCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110006"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060336 . obo:DOID_0110007 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:9649"^^xsd:string, "OMIM:216900"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM2"@en, "RMCH2"@en, "rod monochromacy 2"@en, "rod monochromatism 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110007"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110008 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9650"^^xsd:string, "OMIM:262300"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM1"@en, "ACHM3"@en, "Pingelapese blindness"@en, "RMCH1"@en, "rod monochromacy 1"@en, "rod monochromatism 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110008"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110009 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616517"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110009"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110010 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613856"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110010"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_13911 . obo:DOID_0110011 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604348"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS1"@en, "familial advanced sleep phase syndrome 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110011"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110012 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615224"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS2"@en, "familial advanced sleep phase syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110012"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110013 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616882"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS3"@en, "familial advanced sleep phase syndrome 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110013"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110014 obo:IAO_0000115 "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603075"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD1"@en, "age related maculopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110014"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 1"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110015 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153800"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110015"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 2"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110016 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:204100"^^xsd:string ; oboInOwl:hasExactSynonym "LCA2"@en, "amaurosis congenita of Leber II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110016"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110017 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610698"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110017"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 4"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110018 obo:IAO_0000115 "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613757"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110018"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110019 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610149"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110019"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110020 obo:IAO_0000115 "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613778"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110020"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110021 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611378"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110021"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 9"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110022 obo:IAO_0000115 "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611488"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110022"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 10"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110023 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611953"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110023"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 11"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110024 obo:IAO_0000115 "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613784"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110024"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 12"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110025 obo:IAO_0000115 "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615439"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110025"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 13"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110026 obo:IAO_0000115 "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615489"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110026"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 14"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110027 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615591"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110027"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 15"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110028 obo:IAO_0000115 "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613761"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110028"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 5"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110029 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D56.0"^^xsd:string, "OMIM:141750"^^xsd:string, "ORDO:98791"^^xsd:string ; oboInOwl:hasExactSynonym "ATR syndrome linked to chromosome 16"@en, "ATR syndrome, deletion type"@en, "ATR-16 syndrome"@en, "alpha thalassemia-intellectual disability syndrome, deletion type"@en, "alpha thalassemia-retardation syndrome"@en, "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"@en, "alpha-thalassemia/mental retardation syndrome, deletion-type"@en, "alpha-thalassemia/mental retardation syndrome, type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110029"^^xsd:string ; a owl:Class ; rdfs:label "alpha thalassemia-intellectual disability syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_1099, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0110030 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21."^^xsd:string ; oboInOwl:hasDbXref "GARD:5864"^^xsd:string, "ICD10CM:D56.0"^^xsd:string, "OMIM:301040"^^xsd:string, "ORDO:847"^^xsd:string ; oboInOwl:hasExactSynonym "ATR, nondeletion type"@en, "ATR-X syndrome"@en, "alpha-thalassemia/mental retardation syndrome nondeletion type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110030"^^xsd:string ; a owl:Class ; rdfs:label "alpha thalassemia-X-linked intellectual disability syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_1099, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110031 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D56.0"^^xsd:string, "OMIM:613978"^^xsd:string, "ORDO:93616"^^xsd:string ; oboInOwl:hasExactSynonym "HBH"@en, "alpha thalassemia, haemoglobin H type"@en, "alpha thalassemia, hemoglobin H type"@en, "alpha-thalassemia intermedia"@en, "haemoglobin H disease"@en, "haemoglobin H disease, deletional"@en, "hemoglobin H disease, deletional"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110031"^^xsd:string ; a owl:Class ; rdfs:label "hemoglobin H disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1099 . obo:DOID_0110032 obo:IAO_0000115 "An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:624"^^xsd:string, "OMIM:104200"^^xsd:string, "ORDO:88918"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110032"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110033 obo:IAO_0000115 "An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "GARD:625"^^xsd:string, "OMIM:203780"^^xsd:string, "ORDO:88919"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110033"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110034 obo:IAO_0000115 "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301050"^^xsd:string, "ORDO:88917"^^xsd:string ; oboInOwl:hasExactSynonym "nephropathy and deafness, X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110034"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110035 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:104310"^^xsd:string ; oboInOwl:hasExactSynonym "AD2"@en, "Alzheimer disease 2, late onset"@en, "Alzheimer disease associated with APOE4"@en, "Alzheimer disease-2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110035"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110036 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300756"^^xsd:string ; oboInOwl:hasExactSynonym "AD16"@en, "Alzheimer's disease 16, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110036"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 16"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110037 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:602096"^^xsd:string ; oboInOwl:hasExactSynonym "AD5"@en, "Alzheimer disease 5"@en, "Alzheimer disease, familial 5"@en, "Alzheimer's disease 5, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110037"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110038 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:605526"^^xsd:string ; oboInOwl:hasExactSynonym "AD6"@en, "Alzheimer disease 6"@en, "Alzheimer disease 6, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110038"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110039 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:606187"^^xsd:string ; oboInOwl:hasExactSynonym "AD7"@en, "Alzheimer disease 7"@en, "Alzheimer disease, familial 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110039"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110040 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606889"^^xsd:string ; oboInOwl:hasExactSynonym "AD4"@en, "Alzheimer disease 4"@en, "Alzheimer disease, familial4"@en, "Alzheimer's disease 4, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110040"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110041 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:607116"^^xsd:string ; oboInOwl:hasExactSynonym "AD8"@en, "Alzheimer disease 8"@en, "Alzheimer disease, familial 8"@en, "Alzheimer's disease 8, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110041"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110042 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607822"^^xsd:string ; oboInOwl:hasExactSynonym "AD3"@en, "Alzheimer disease 3"@en, "Alzheimer disease 3, early onset"@en, "Alzheimer disease familial 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110042"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110043 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:609636"^^xsd:string ; oboInOwl:hasExactSynonym "AD10"@en, "Alzheimer disease 10"@en, "Alzheimer disease familial 10"@en, "Alzheimer's disease 10, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110043"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 10"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110044 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:609790"^^xsd:string ; oboInOwl:hasExactSynonym "AD11"@en, "Alzheimer disease 11"@en, "Alzheimer's disease 11, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110044"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 11"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110045 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611073"^^xsd:string ; oboInOwl:hasExactSynonym "AD12"@en, "Alzheimer disease 12"@en, "Alzheimer disease familial 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110045"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 12"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110046 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611152"^^xsd:string ; oboInOwl:hasExactSynonym "AD13"@en, "Alzheimer disease 13"@en, "Alzheimer's disease 13, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110046"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 13"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110047 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611154"^^xsd:string ; oboInOwl:hasExactSynonym "AD14"@en, "Alzheimer disease 14"@en, "Alzheimer's disease 14, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110047"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 14"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110048 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:7190"^^xsd:string, "ICD10CM:G30"^^xsd:string, "OMIM:604154"^^xsd:string ; oboInOwl:hasExactSynonym "AD15"@en, "Alzheimer disease 15"@en, "Alzheimer's disease 15, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110048"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 15"@en ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110049 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615080"^^xsd:string ; oboInOwl:hasExactSynonym "AD17"@en, "Alzheimer disease 17"@en, "Alzheimer disease 17, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110049"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 17"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110050 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615590"^^xsd:string ; oboInOwl:hasExactSynonym "AD18"@en, "Alzheimer disease 18"@en, "Alzheimer's disease 18, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110050"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 18"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110051 obo:IAO_0000115 "An Alzheimer's disease that is characterized by associated variants of the gene PLD3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615711"^^xsd:string ; oboInOwl:hasExactSynonym "AD19"@en, "Alzheimer disease 19"@en, "Alzheimer disease 19 late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110051"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 19"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110052 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104500"^^xsd:string ; oboInOwl:hasExactSynonym "AI1B"@en, "AIH2"@en, "amelogenesis imperfecta type IB"@en, "autosomal dominant hypoplastic local amelogenesis imperfecta"@en, "hereditary localized enamel hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110052"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110053 obo:IAO_0000115 "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104510"^^xsd:string ; oboInOwl:hasExactSynonym "AI4"@en, "AIHHT"@en, "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110053"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110054 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104530"^^xsd:string ; oboInOwl:hasExactSynonym "AI1A"@en, "amelogenesis imperfecta hypoplastic type IA"@en, "amelogenesis imperfecta type IA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110054"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110055 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:130900"^^xsd:string ; oboInOwl:hasExactSynonym "ADHCAI"@en, "AI3"@en, "amelogenesis imperfecta hypomineralization type"@en, "amelogenesis imperfecta type III"@en, "autosomal dominant amelogenesis imperfecta hypocalcification type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110055"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110056 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:204650"^^xsd:string ; oboInOwl:hasExactSynonym "AI1C"@en, "amelogenesis imperfecta type IC"@en, "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion"@en, "autosomal recessive amelogenesis imperfecta local hypoplastic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110056"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110057 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9495"^^xsd:string, "ICD10CM:K00.5"^^xsd:string, "OMIM:204700"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A1"@en, "amelogenesis imperfecta pigmented hypomaturation type 1"@en, "amelogenesis imperfecta type IIA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110057"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 2A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110058 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:301200"^^xsd:string ; oboInOwl:hasExactSynonym "AIH1"@en, "X-linked amelogenesis imperfecta 1"@en, "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1"@en, "amelogenesis imperfecta hypomaturationtype with snow-capped teeth"@en, "amelogenesis imperfecta type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "X-linked enamel hypoplasia"@en ; oboInOwl:id "DOID:0110058"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110059 obo:IAO_0000115 "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:301201"^^xsd:string ; oboInOwl:hasExactSynonym "AIH3"@en, "amelogenesis imperfecta type IE X-linked 2"@en, "amelogenesis imperfecta 3 hypoplastic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "X-linked enamel hypoplasia"@en ; oboInOwl:id "DOID:0110059"^^xsd:string ; a owl:Class ; rdfs:label "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2187 . obo:DOID_0110060 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:612529"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A2"@en, "amelogenesis imperfecta hypomaturation type IIA2"@en, "amelogenesis imperfecta pigmented hypomaturation type 2"@en, "amelogenesis imperfecta type IIA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110060"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110061 obo:IAO_0000115 "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:613211"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A3"@en, "amelogenesis imperfecta hypomaturation type IIA3"@en, "amelogenesis imperfecta type IIA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110061"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110062 obo:IAO_0000115 "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:614832"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A4"@en, "amelogenesis imperfecta hypomaturation type IIA4"@en, "amelogenesis imperfecta type IIA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110062"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110063 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:615887"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A5"@en, "amelogenesis imperfecta hypomaturation type IIA5"@en, "amelogenesis imperfecta type IIA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110063"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110064 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:616221"^^xsd:string ; oboInOwl:hasExactSynonym "AI1H"@en, "amelogenesis imperfecta type IH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110064"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110065 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:616270"^^xsd:string ; oboInOwl:hasExactSynonym "AI1F"@en, "amelogenesis imperfecta hypoplastic type IF"@en, "amelogenesis imperfecta type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110065"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110066 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:204690"^^xsd:string, "ORDO:1031"^^xsd:string ; oboInOwl:hasExactSynonym "AI1G"@en, "AIGFS"@en, "ERS"@en, "amelogenesis imperfecta and gingival fibromatosis syndrome"@en, "amelogenesis imperfecta hypoplastic with nephrocalcinosis"@en, "amelogenesis imperfecta type IG"@en, "enamel-renal syndrome"@en, "enamel-renal-gingival syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110066"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110067 obo:IAO_0000115 "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:205200"^^xsd:string ; oboInOwl:hasExactSynonym "ALS-dementia complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110067"^^xsd:string ; a owl:Class ; rdfs:label "juvenile amyotrophic lateral sclerosis with dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_332, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0110068 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616437"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS3"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110068"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-3"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0110069 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616439"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS4"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110069"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-4"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0110070 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "ICD10CM:Q24.8"^^xsd:string, "MESH:C536932"^^xsd:string, "OMIM:107970"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC1"@en, "Uhl anomaly"@en, "arrhythmogenic right ventricular cardiomyopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110070"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110071 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:600996"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC2"@en, "ARVD2"@en, "arrhythmogenic right ventricular cardiomyopathy 2"@en, "familial arrhythmogenic right ventricular dysplasia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110071"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110072 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:602086"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC3"@en, "ARVD3"@en, "arrhythmogenic right ventricular cardiomyopathy 3"@en, "familial arrhythmogenic right ventricular dysplasia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110072"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110073 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:602087"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC4"@en, "ARVD4"@en, "arrhythmogenic right ventricular cardiomyopathy 4"@en, "familial arrhythmogenic right ventricular dysplasia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110073"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110074 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:604400"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC5"@en, "ARVD5"@en, "arrhythmogenic right ventricular cardiomyopathy 5"@en, "familial arrhythmogenic right ventricular dysplasia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110074"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 5"@en ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110075 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:604401"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC6"@en, "ARVD6"@en, "arrhythmogenic right ventricular cardiomyopathy 6"@en, "familial arrhythmogenic right ventricular dysplasia 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110075"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431 . obo:DOID_0110076 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:607450"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC8"@en, "ARVD8"@en, "arrhythmogenic right ventricular cardiomyopathy 8"@en, "familial arrhythmogenic right ventricular dysplasia 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110076"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110077 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:609040"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC9"@en, "ARVD9"@en, "arrhythmogenic right ventricular cardiomyopathy 9"@en, "familial arrhythmogenic right ventricular dysplasia 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110077"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110078 obo:IAO_0000115 "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:204000"^^xsd:string ; oboInOwl:hasExactSynonym "LCA1"@en, "amaurosis congenita of Leber I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110078"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110079 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613835"^^xsd:string ; oboInOwl:hasExactSynonym "LCA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110079"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110080 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610612"^^xsd:string ; oboInOwl:hasExactSynonym "LCA12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110080"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110081 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:610193"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC10"@en, "ARVD10"@en, "arrhythmogenic right ventricular cardiomyopathy 10"@en, "familial arrhythmogenic right ventricular dysplasia 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110081"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110082 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:610476"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC11"@en, "ARVD11"@en, "arrhythmogenic right ventricular cardiomyopathy 11"@en, "familial arrhythmogenic right ventricular dysplasia 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110082"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:GENO_0000147 obo:GENO_0000148 ) ] ] . obo:DOID_0110083 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:611528"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC12"@en, "ARVD12"@en, "arrhythmogenic right ventricular cardiomyopathy 12"@en, "familial arrhythmogenic right ventricular dysplasia 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110083"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110084 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:615616"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC13"@en, "ARVD13"@en, "arrhythmogenic right ventricular cardiomyopathy 13"@en, "familial arrhythmogenic right ventricular dysplasia 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110084"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110085 obo:IAO_0000115 "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:208500"^^xsd:string ; oboInOwl:hasExactSynonym "ATD1"@en, "SRTD1"@en, "short-rib thoracic dysplasia 1 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110085"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110086 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:611263"^^xsd:string ; oboInOwl:hasExactSynonym "ATD2"@en, "SRTD2"@en, "short-rib thoracic dysplasia 2 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110086"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 2"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110087 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:613091"^^xsd:string ; oboInOwl:hasExactSynonym "ATD3"@en, "SRPS1"@en, "SRPS2B"@en, "SRPS3"@en, "SRTD3"@en, "Saldino-Noonan syndrome"@en, "Verma-Naumoff syndrome"@en, "polydactyly with neonatal chondrodystrophy, type I"@en, "polydactyly with neonatal chondrodystrophy, type III"@en, "short rib-polydactyly syndrome, type I"@en, "short rib-polydactyly syndrome, type IIB"@en, "short-rib thoracic dysplasia 3 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110087"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 3"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110088 obo:IAO_0000115 "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:613819"^^xsd:string ; oboInOwl:hasExactSynonym "ATD4"@en, "SRTD4"@en, "short-rib thoracic dysplasia 4 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110088"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 4"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110089 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:614376"^^xsd:string ; oboInOwl:hasExactSynonym "ATD5"@en, "SRTD5"@en, "short-rib thoracic dysplasia 5 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110089"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 5"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110090 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:614091"^^xsd:string ; oboInOwl:hasExactSynonym "SRPS5"@en, "SRTD7"@en, "short rib-polydactyly syndrome type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110090"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 7 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110091 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "ICD10CM:Q87.5"^^xsd:string, "OMIM:615630"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110091"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 10 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110092 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:263520"^^xsd:string ; oboInOwl:hasExactSynonym "Majewski syndrome"@en, "SRPS2A"@en, "SRTD6"@en, "polydactyly with neonatal chondrodystrophy, type II"@en, "short rib-polydactyly syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110092"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 6 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110093 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:616300"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110093"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110094 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:615503"^^xsd:string ; oboInOwl:hasExactSynonym "SRPS6"@en, "SRTD8"@en, "short rib-polydactyly syndrome type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110094"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 8 with or without polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110095 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:615633"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110095"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 11 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110096 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:616546"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110096"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 14 with polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110097 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.5"^^xsd:string, "OMIM:266920"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD9"@en, "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110097"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 9 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110098 obo:IAO_0000115 "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605803"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110098"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110099 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 20p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605804"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD3"@en, "atopic dermatitis with asthma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110099"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110100 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605805"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110100"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110101 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 13q12-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605844"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110101"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110102 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 5q31-q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605845"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110102"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110103 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 11q13.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613064"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110103"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110104 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 4q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613518"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110104"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110105 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 3p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613519"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110105"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110106 obo:IAO_0000115 "An atrial heart septal defect type 1 associated with variation in the region 5p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:108800"^^xsd:string ; oboInOwl:hasExactSynonym "ASD1"@en, "atrial septal defect 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110106"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 1"@en ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110107 obo:IAO_0000115 "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:607941"^^xsd:string ; oboInOwl:hasExactSynonym "ASD2"@en, "atrial septal defect 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110107"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110108 obo:IAO_0000115 "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614089"^^xsd:string ; oboInOwl:hasExactSynonym "ASD3"@en, "atrial septal defect 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110108"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110109 obo:IAO_0000115 "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:611363"^^xsd:string ; oboInOwl:hasExactSynonym "ASD4"@en, "atrial septal defect 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110109"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110110 obo:IAO_0000115 "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:612794"^^xsd:string ; oboInOwl:hasExactSynonym "ASD5"@en, "atrial septal defect 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110110"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110111 obo:IAO_0000115 "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:613087"^^xsd:string ; oboInOwl:hasExactSynonym "ASD6"@en, "atrial septal defect 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110111"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110112 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:108900"^^xsd:string, "ORDO:1479"^^xsd:string ; oboInOwl:hasExactSynonym "ASD with or without atrioventricular conduction defects"@en, "atrial septal defect 7, with or without AV conduction defects"@en, "atrial septal defect-atrioventricular conduction defects syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110112"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110113 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614433"^^xsd:string ; oboInOwl:hasExactSynonym "ASD8"@en, "atrial septal defect 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110113"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110114 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614475"^^xsd:string ; oboInOwl:hasExactSynonym "ASD9"@en, "atrial septal defect 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110114"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110115 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:603909"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS2A"@en, "autoimmune lymphoproliferative syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110115"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110116 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:607271"^^xsd:string, "ORDO:275517"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS with recurrent viral infections"@en, "ALPS2B"@en, "CEDS"@en, "Caspase 8 deficiency"@en, "Caspase 8 deficiency syndrome"@en, "Caspase eight deficiency state"@en, "autoimmune lymphoproliferative syndrome type IIB"@en, "autoimmune lymphoproliferative syndrome with recurrent viral infections"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110116"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110117 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D72.8"^^xsd:string, "OMIM:614470"^^xsd:string, "ORDO:268114"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS type 4"@en, "ALPS type IV"@en, "ALPS4"@en, "RALD"@en, "RAS-associated autoimmune leukoproliferative disease"@en, "RAS-associated autoimmune leukoproliferative disorder"@en, "autoimmune lymphoproliferative syndrome type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110117"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110118 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614186"^^xsd:string ; oboInOwl:hasExactSynonym "LCA16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110118"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110119 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:615559"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS3"@en, "CVID9"@en, "autoimmune lymphoproliferative syndrome type III"@en, "common variable immunodeficiency 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110119"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110120 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:180500"^^xsd:string ; oboInOwl:hasExactSynonym "RIEG1"@en, "Rieger syndrome type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110120"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110121 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:601499"^^xsd:string ; oboInOwl:hasExactSynonym "RIEG2"@en, "Rieger syndrome type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110121"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_14686, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0110122 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:602482"^^xsd:string ; oboInOwl:hasExactSynonym "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss"@en, "RIEG3"@en, "Rieger syndrome type 3"@en, "anterior chamber cleavage syndrome"@en, "anterior segment mesenchymal dysgenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110122"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 3"@en ; rdfs:subClassOf obo:DOID_14686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110123 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:820"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:209900"^^xsd:string ; oboInOwl:hasExactSynonym "BBS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110123"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110124 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:821"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615981"^^xsd:string ; oboInOwl:hasExactSynonym "BBS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110124"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110125 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:822"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:600151"^^xsd:string ; oboInOwl:hasExactSynonym "BBS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110125"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110126 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:823"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615982"^^xsd:string ; oboInOwl:hasExactSynonym "BBS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110126"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110127 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10204"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615983"^^xsd:string ; oboInOwl:hasExactSynonym "BBS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110127"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110128 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10205"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:605231"^^xsd:string ; oboInOwl:hasExactSynonym "BBS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110128"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110129 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:10206"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615984"^^xsd:string ; oboInOwl:hasExactSynonym "BBS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110129"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110130 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10207"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615985"^^xsd:string ; oboInOwl:hasExactSynonym "BBS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110130"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110131 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:10208"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615986"^^xsd:string ; oboInOwl:hasExactSynonym "BBS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110131"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110132 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10209"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615987"^^xsd:string ; oboInOwl:hasExactSynonym "BBS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110132"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 10"@en ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110133 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:10210"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615988"^^xsd:string ; oboInOwl:hasExactSynonym "BBS11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110133"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110134 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:10211"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615989"^^xsd:string ; oboInOwl:hasExactSynonym "BBS12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110134"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110135 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615990"^^xsd:string ; oboInOwl:hasExactSynonym "BBS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110135"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110136 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615991"^^xsd:string ; oboInOwl:hasExactSynonym "BBS14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110136"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110137 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615992"^^xsd:string ; oboInOwl:hasExactSynonym "BBS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110137"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110138 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615993"^^xsd:string ; oboInOwl:hasExactSynonym "BBS16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110138"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110139 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615994"^^xsd:string ; oboInOwl:hasExactSynonym "BBS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110139"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 17"@en ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110140 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615995"^^xsd:string ; oboInOwl:hasExactSynonym "BBS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110140"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110141 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615996"^^xsd:string ; oboInOwl:hasExactSynonym "BBS19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110141"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 19"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110142 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:601678"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS1"@en, "Bartter syndrome type 1"@en, "Bartter syndrome type 1 antenatal"@en, "hyperprostaglandin E syndrome 1"@en, "hypokalemic alkalosis with hypercalciuria 1 antenatal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110142"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110143 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:241200"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS2"@en, "Bartter syndrome type 2"@en, "Bartter syndrome type 2 antenatal"@en, "hyperprostaglandin E syndrome 2"@en, "hypokalemic alkalosis with hypercalciuria 2 antenatal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110143"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110144 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:9659"^^xsd:string, "ICD10CM:E26.8"^^xsd:string, "OMIM:607364"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS3"@en, "Bartter syndrome type 3"@en, "classic Bartter syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110144"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110145 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:602522"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS4A"@en, "BSND"@en, "Bartter syndrome type 4a"@en, "neonatal Bartter syndrome with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110145"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 4a"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110146 obo:IAO_0000115 "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:613090"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS4B"@en, "Bartter syndrome, type 4b, digenic"@en, "neonatal Bartter syndrome type 4B with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110146"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 4b"@en ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110147 obo:IAO_0000115 "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:300971"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS5"@en, "Bartter syndrome, type 5, antenatal, transient"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110147"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 5"@en ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110148 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)."^^xsd:string ; oboInOwl:hasDbXref "GARD:1245"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:118220"^^xsd:string, "ORDO:101081"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1A"@en, "Charcot-Marie-Tooth neuropathy type 1A"@en, "HMSN1A"@en, "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A"@en, "hereditary motor and sensory neuropathy 1A"@en, "microduplication 17p12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110148"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110149 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607734"^^xsd:string, "ORDO:101085"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1F"@en, "Charcot-Marie-Tooth neuropathy type 1F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110149"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110150 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607678"^^xsd:string, "ORDO:101084"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1D"@en, "Charcot-Marie-Tooth neuropathy type 1D"@en, "HMSN ID"@en, "HMSN1D"@en, "hereditary motor and sensory neuropathy 1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110150"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110151 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601098"^^xsd:string, "ORDO:101083"^^xsd:string ; oboInOwl:hasExactSynonym "CMT slow nerve conduction type C"@en, "CMT1C"@en, "Charcot-Marie-Tooth neuropathy type 1C"@en, "HMSN IC"@en, "HMSN1C"@en, "neuropathy hereditary motor and sensory type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110151"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110152 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:118200"^^xsd:string, "ORDO:101082"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1B"@en, "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy"@en, "Charcot-Marie-Tooth neuropathy type 1B"@en, "HMSN IB"@en, "HMSN1B"@en, "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B"@en, "hereditary motor and sensory neuropathy IB"@en, "peroneal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110152"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110153 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)."^^xsd:string ; oboInOwl:hasDbXref "GARD:9190"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:118300"^^xsd:string, "ORDO:90658"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1E"@en, "Charcot-Marie-Tooth disease and deafness"@en, "Charcot-Marie-Tooth disease demyelinating type 1E"@en, "Charcot-Marie-Tooth disease-deafness"@en, "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110153"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110154 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:118210"^^xsd:string, "ORDO:99946"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2A1"@en, "Charcot-Marie-Tooth disease neuronal type 2A1"@en, "Charcot-Marie-Tooth neuropathy type 2A1"@en, "HMSN IIA1"@en, "HMSN2A1"@en, "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1"@en, "hereditary motor and sensory neuropathy IIA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110154"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110155 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:609260"^^xsd:string, "ORDO:99947"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2A2A"@en, "Charcot-Marie-Tooth neuronal type 2A2"@en, "Charcot-Marie-Tooth neuropathy type 2A2"@en, "HMSN IIA2"@en, "HMSN2A2"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2"@en, "hereditary motor and sensory neuropathy IIA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110155"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110156 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605588"^^xsd:string, "ORDO:98856"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2B1"@en, "Charcot-Marie-Tooth disease neuronal type 2B1"@en, "Charcot-Marie-Tooth neuropathy type 2B1"@en, "autosomal recessive Charcot-Marie-Tooth disease type 2B1"@en, "autosomal recessive axonal CMT4C1"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110156"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110157 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607736"^^xsd:string, "ORDO:99943"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2J"@en, "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities"@en, "Charcot-Marie-Tooth neuropathy type 2J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110157"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110158 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607677"^^xsd:string, "ORDO:99942"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2I"@en, "Charcot-Marie-Tooth neuropathy type 2I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110158"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110159 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9192"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:600882"^^xsd:string, "ORDO:99936"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2B"@en, "Charcot-Marie-Tooth neuropathy type 2B"@en, "HMSN IIB"@en, "HMSN2B"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2B"@en, "hereditary motor and sensory nueropathy IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110159"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110160 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:617017"^^xsd:string, "ORDO:443950"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2T"@en, "CMT2T"@en, "Charcot-Marie-Tooth neuropathy type 2T"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110160"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2T"@en ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110161 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615490"^^xsd:string, "ORDO:397968"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2R"@en, "Charcot-Marie-Tooth neuropathy type 2R"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110161"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110162 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616625"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2W"@en, "Charcot-Marie-Tooth neuropathy type 2W"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110162"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease, axonal type 2W"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110163 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606595"^^xsd:string, "ORDO:99940"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2F"@en, "Charcot-Marie-Tooth neuronal type 2F"@en, "Charcot-Marie-Tooth neuropathy type 2F"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110163"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110164 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601472"^^xsd:string, "ORDO:99938"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2D"@en, "Charcot-Marie-Tooth disease neuronal type 2D"@en, "Charcot-Marie-Tooth neuropathy type 2D"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110164"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110165 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607684"^^xsd:string, "ORDO:99939"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2E"@en, "Charcot-Marie-Tooth neuropathy type 2E"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110165"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110166 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607731"^^xsd:string, "ORDO:101102"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2C"@en, "Autosomal recessive axonal CMT4C2"@en, "Axonal Charcot-Marie-Tooth disease with pyramidal involvement"@en, "CMT2H"@en, "Charcot-Marie-Tooth disease type 2H"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features"@en, "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110166"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110167 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607831"^^xsd:string, "ORDO:101097"^^xsd:string ; oboInOwl:hasExactSynonym "ARCMT2K"@en, "Charcot-Marie-Tooth neuropathy axonal type 2K"@en, "autosomal recessive Charcot-Marie-Tooth disease with hoarseness"@en, "autosomal recessive axonal CMT4C4"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110167"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110168 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616687"^^xsd:string, "ORDO:435387"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2 due to VCP mutation"@en, "CMT2Y"@en, "Charcot-Marie-Tooth neuropathy type 2Y"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation"@en, "autosomal dominant axonal Charcot-Marie-Tooth type 2Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110168"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110169 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:12435"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:614436"^^xsd:string, "ORDO:300319"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2P"@en, "Charcot-Marie-Tooth disease type 2P"@en, "Charcot-Marie-Tooth neuropathy type 2P"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110169"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2P"@en ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110170 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615025"^^xsd:string, "ORDO:329258"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2Q"@en, "Charcot-Marie-Tooth neuropathy type 2Q"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2Q"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110170"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110171 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616155"^^xsd:string, "ORDO:443073"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2S"@en, "Charcot-Marie-Tooth disease type 2S"@en, "Charcot-Marie-Tooth neuropathy type 2S"@en, "autosomal recessive axonal Charcot-Marie-Tooth type 2S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110171"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2S"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110172 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110172"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Charcot-Marie-Tooth disease axonal type 2G"^^xsd:string ; owl:deprecated true . obo:DOID_0110173 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616280"^^xsd:string, "ORDO:397735"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2U"@en, "Charcot-Marie-Tooth neuropathy type 2U"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2U"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110173"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110174 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:608673"^^xsd:string, "ORDO:99945"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2L"@en, "Charcot-Marie-Tooth neuropathy axonal type 2L"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2L"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110174"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110175 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614228"^^xsd:string, "ORDO:284232"^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy axonal type 2O"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2O"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110175"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110176 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616668"^^xsd:string, "ORDO:466775"^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2X"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110176"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110177 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:613287"^^xsd:string, "ORDO:228174"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2N"@en, "Charcot-Marie-Tooth neuropathy axonal type 2N"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2N"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110177"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2N"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110178 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616491"^^xsd:string, "ORDO:447964"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2V"@en, "Charcot-Marie-Tooth neuropathy type 2V"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2V"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110178"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110179 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605589"^^xsd:string, "ORDO:101101"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2B2"@en, "ARCMT2B"@en, "Autosomal recessive axonal CMT4C3"@en, "CMT2B2"@en, "Charcot-Marie-Tooth disease neuronal type 2B2"@en, "Charcot-Marie-Tooth neuropathy type 2B2"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110179"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110180 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616924"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2CC"@en, "Charcot-Marie-Tooth neuropathy type 2CC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110180"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2CC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110181 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616688"^^xsd:string, "ORDO:466768"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2Z"@en, "Charcot-Marie-Tooth neuropathy type 2Z"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110181"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2Z"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110182 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606071"^^xsd:string, "ORDO:99937"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2C"@en, "Charcot-Marie-Tooth neuropathy type 2C"@en, "HMSN2C"@en, "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2C"@en, "hereditary motor and sensory neuropathy type IIc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110182"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110183 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601596"^^xsd:string, "ORDO:99949"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4C"@en, "Charcot-Marie-Tooth neuropathy type 4C"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110183"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110184 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:611228"^^xsd:string, "ORDO:139515"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4J"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110184"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4J"@en ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110185 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:214400"^^xsd:string, "ORDO:99948"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4A"@en, "Charcot-Marie-Tooth neuropathy type 4A"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110185"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110186 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601455"^^xsd:string, "ORDO:99950"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4D"@en, "Charcot-Marie-Tooth neuropathy type 4D"@en, "HMSN Lom type"@en, "HMSN-Lom"@en, "HMSN4D"@en, "HMSNL"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D"@en, "hereditary motor and sensory neuropathy LOM type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110186"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110187 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616684"^^xsd:string, "ORDO:391351"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4K"@en, "SURF1-related CMT4"@en, "SURF1-related Charcot-Marie-Tooth disease type 4"@en, "SURF1-related severe demyelinating Charcot-Marie-Tooth disease"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110187"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110188 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613341"^^xsd:string ; oboInOwl:hasExactSynonym "LCA14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110188"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110189 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613843"^^xsd:string ; oboInOwl:hasExactSynonym "LCA15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110189"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110190 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9200"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:604563"^^xsd:string, "ORDO:99956"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B2"@en, "Charcot-Marie-Tooth neuropathy type 4B2"@en, "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110190"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110191 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601382"^^xsd:string, "ORDO:99955"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B1"@en, "Charcot-Marie-Tooth neuropathy type 4B1"@en, "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110191"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110192 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:609311"^^xsd:string, "ORDO:99954"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4H"@en, "Charcot-Marie-Tooth neuropathy type 4H"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4H"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110192"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110193 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614895"^^xsd:string, "ORDO:99952"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110193"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110194 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615284"^^xsd:string, "ORDO:363981"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110194"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110195 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605253"^^xsd:string, "ORDO:99951"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4E"@en, "Charcot-Marie-Tooth neuropathy type 4E"@en, "Neuropathy, congenital hypomyelinating, 1"@en, "autosomal recessive congenital hypomyelinating or amyelinating neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110195"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110196 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605285"^^xsd:string, "ORDO:99953"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4G"@en, "Charcot-Marie-Tooth neuropathy type 4G"@en, "HMSNR"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4G"@en, "hereditary motor and sensory neuropathy Russe type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110196"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110197 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606482"^^xsd:string, "ORDO:100044"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDI1"@en, "CMTDIB"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate B"@en, "DI-CMTB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110197"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110198 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615376"^^xsd:string, "ORDO:369867"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIC"@en, "RI-CMT type C"@en, "RI-CMTC"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110198"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110199 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:608323"^^xsd:string, "ORDO:100045"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIC"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate C"@en, "DI-CMTC"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110199"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110200 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607791"^^xsd:string, "ORDO:100046"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDID"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate D"@en, "DI-CMTD"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110200"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110201 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608340"^^xsd:string, "ORDO:217055"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIA"@en, "Charcot-Marie-Tooth neuropathy recessive intermediate A"@en, "RI-CMTA"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110201"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110202 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606483"^^xsd:string, "ORDO:100043"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIA"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate A"@en, "DI-CMTA"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110202"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110203 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616039"^^xsd:string, "ORDO:435998"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRID"@en, "RI-CMT type D"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110203"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110204 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:613641"^^xsd:string, "ORDO:254334"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIB"@en, "Charcot-Marie-Tooth neuropathy recessive intermediate B"@en, "RI-CMTB"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110204"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110205 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614455"^^xsd:string, "ORDO:93114"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIE"@en, "Charcot-Marie-Tooth disease-nephropathy syndrome"@en, "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110205"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110206 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615185"^^xsd:string, "ORDO:352670"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIF"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110206"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110207 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:300905"^^xsd:string, "ORDO:352675"^^xsd:string ; oboInOwl:hasExactSynonym "CMT6X"@en, "CMTX6"@en, "Charcot-Marie-Tooth neuropathy X-linked dominant 6"@en, "X-linked Charcot-Marie-Tooth disease type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110207"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110208 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302801"^^xsd:string, "ORDO:101076"^^xsd:string ; oboInOwl:hasExactSynonym "CMTX2"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 2"@en, "X-linked Charcot-Marie-Tooth disease type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110208"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110209 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302800"^^xsd:string, "ORDO:101075"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1X"@en, "CMTX1"@en, "Charcot-Marie-Tooth neuropathy X-linked dominant 1"@en, "X-linked Charcot-Marie-Tooth disease type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110209"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110210 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:311070"^^xsd:string, "ORDO:99014"^^xsd:string ; oboInOwl:hasExactSynonym "CMT5X"@en, "CMTX5"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 5"@en, "Rosenberg-Chutorian syndrome"@en, "X-linked Charcot-Marie-Tooth disease type 5"@en, "optic atrophy, polyneuropathy, and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110210"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110211 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302802"^^xsd:string, "ORDO:101077"^^xsd:string ; oboInOwl:hasExactSynonym "CMT3X"@en, "CMTX3"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 3"@en, "X-linked Charcot-Marie-Tooth disease type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110211"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110212 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:310490"^^xsd:string, "ORDO:101078"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4X"@en, "CMTX4"@en, "Charcot-Marie-Tooth disease with deafness and mental retardation"@en, "Cowchock syndrome"@en, "NADMR"@en, "NAMSD"@en, "X-linked Charcot-Marie-Tooth disease type 4"@en, "axonal motor sensory neuropathy with deafness and mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110212"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110213 obo:IAO_0000115 "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q35.1"^^xsd:string, "ICD10CM:Q35.3"^^xsd:string, "ICD10CM:Q35.5"^^xsd:string, "ICD10CM:Q35.7"^^xsd:string, "ICD10CM:Q35.9"^^xsd:string, "OMIM:119540"^^xsd:string, "ORDO:2014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110213"^^xsd:string ; a owl:Class ; rdfs:label "isolated cleft palate"^^xsd:string ; rdfs:subClassOf obo:DOID_674 . obo:DOID_0110214 obo:IAO_0000115 "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q35.3"^^xsd:string, "OMIM:119570"^^xsd:string, "ORDO:99772"^^xsd:string ; oboInOwl:hasExactSynonym "cleft velum"@en, "cleft velum palatinum"@en, "soft cleft palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110214"^^xsd:string ; a owl:Class ; rdfs:label "cleft soft palate"^^xsd:string ; rdfs:subClassOf obo:DOID_674 . obo:DOID_0110215 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604537"^^xsd:string ; oboInOwl:hasExactSynonym "LCA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110215"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110216 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613837"^^xsd:string ; oboInOwl:hasExactSynonym "LCA11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110216"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110217 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615360"^^xsd:string ; oboInOwl:hasExactSynonym "LCA17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110217"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110218 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:601144"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110218"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110219 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:611777"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110219"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110220 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10361"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "OMIM:611875"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110220"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110221 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10362"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "OMIM:611876"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110221"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110222 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:612838"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110222"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110223 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613119"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110223"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110224 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613120"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110224"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110225 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613123"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110225"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110226 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:616399"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110226"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110227 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the region 14q22-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115650"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT32"@en ; oboInOwl:hasNarrowSynonym "CTAA1"@en, "CTPP5"@en, "anterior polar cataract 1"@en, "posterior polar cataract 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110227"^^xsd:string ; a owl:Class ; rdfs:label "cataract 32 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110228 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 1pter-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115665"^^xsd:string ; oboInOwl:hasExactSynonym "CCV"@en, "CTRCT8"@en, "cataract, congenital, Volkmann type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110228"^^xsd:string ; a owl:Class ; rdfs:label "cataract 8 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110229 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116600"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT6"@en ; oboInOwl:hasNarrowSynonym "ARCC2"@en, "CTPP1"@en, "age related cortical cataract 2"@en, "posterior polar cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110229"^^xsd:string ; a owl:Class ; rdfs:label "cataract 6 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110230 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:612968"^^xsd:string ; oboInOwl:hasExactSynonym "CATC3"@en, "CTRCT34"@en, "autosomal recessive congenital cataract 3"@en, "cataract 34 multiple types with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110230"^^xsd:string ; a owl:Class ; rdfs:label "cataract 34 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110231 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116200"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT1"@en, "Duffy linked cataract"@en, "cataract 1, multiple types, with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CAE1"@en, "CZP1"@en, "zonular pulverulent cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110231"^^xsd:string ; a owl:Class ; rdfs:label "cataract 1 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110232 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 2pter-p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115800"^^xsd:string, "ORDO:98990"^^xsd:string ; oboInOwl:hasExactSynonym "cataract 29 coralliform"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110232"^^xsd:string ; a owl:Class ; rdfs:label "cataract 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110233 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the region 2p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:607304"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT27"@en, "cataract 27 nuclear progressive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110233"^^xsd:string ; a owl:Class ; rdfs:label "cataract 27"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110234 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115700"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT4"@en, "cataract 4 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA3"@en, "congenital cataract cerulean type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110234"^^xsd:string ; a owl:Class ; rdfs:label "cataract 4 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110235 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:604307"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT2"@en, "cataract 2 multiple types with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110235"^^xsd:string ; a owl:Class ; rdfs:label "cataract 2 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110236 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615188"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT39"@en, "autosomal dominant cataract 39 multiple types"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110236"^^xsd:string ; a owl:Class ; rdfs:label "cataract 39 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110237 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35."@en ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115900"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110237"^^xsd:string ; a owl:Class ; rdfs:label "cataract 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110238 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610019"^^xsd:string ; oboInOwl:hasExactSynonym "CATC2"@en, "CTRCT18"@en, "autosomal recessive congenital cataract 2"@en, "cataract 18 autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110238"^^xsd:string ; a owl:Class ; rdfs:label "cataract 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110239 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611597"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110239"^^xsd:string ; a owl:Class ; rdfs:label "cataract 12 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110240 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116100"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110240"^^xsd:string ; a owl:Class ; rdfs:label "cataract 20 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110241 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116400"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT41"@en, "congenital nuclear type cataract 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110241"^^xsd:string ; a owl:Class ; rdfs:label "cataract 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110242 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116700"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110242"^^xsd:string ; a owl:Class ; rdfs:label "cataract 13 with adult i phenotype"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110243 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:212500"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT46"@en, "juvenilae cataract Hutterite type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110243"^^xsd:string ; a owl:Class ; rdfs:label "cataract 46 juvenile-onset"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0110244 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 6p12-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609026"^^xsd:string ; oboInOwl:hasExactSynonym "ARCC1"@en, "CTRCT28"@en, "age-related cortical cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110244"^^xsd:string ; a owl:Class ; rdfs:label "cataract 28"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110245 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:614691"^^xsd:string ; oboInOwl:hasExactSynonym "CATC5"@en, "CTRCT38"@en, "autosomal recessive congenital cataract 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110245"^^xsd:string ; a owl:Class ; rdfs:label "cataract 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110246 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 9q13-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605749"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110246"^^xsd:string ; a owl:Class ; rdfs:label "cataract 26 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110247 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613887"^^xsd:string ; oboInOwl:hasExactSynonym "CATC4"@en, "CTRCT36"@en, "autosomal recessive congenital cataract 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110247"^^xsd:string ; a owl:Class ; rdfs:label "cataract 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110248 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116300"^^xsd:string, "ORDO:98984"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT30"@en, "Dusty cataract"@en, "cataract 30 pulverulent"@en, "cataract Coppock-like"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110248"^^xsd:string ; a owl:Class ; rdfs:label "cataract 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110249 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610623"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT11"@en ; oboInOwl:hasNarrowSynonym "CPP4"@en, "CTPP4"@en, "posterior polar cataract 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110249"^^xsd:string ; a owl:Class ; rdfs:label "cataract 11 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110250 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:613763"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT16"@en ; oboInOwl:hasNarrowSynonym "CTPP2"@en, "posterior polar cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110250"^^xsd:string ; a owl:Class ; rdfs:label "cataract 16 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110251 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615274"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110251"^^xsd:string ; a owl:Class ; rdfs:label "cataract 15 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110252 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:614422"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT37"@en ; oboInOwl:hasNarrowSynonym "CCA5"@en, "congenital cataract cerulean type 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110252"^^xsd:string ; a owl:Class ; rdfs:label "cataract 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110253 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601885"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT14"@en ; oboInOwl:hasNarrowSynonym "CAE3"@en, "CZP3"@en, "zonular pulverulent cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110253"^^xsd:string ; a owl:Class ; rdfs:label "cataract 14 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110254 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 15q21-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605728"^^xsd:string, "ORDO:98985"^^xsd:string ; oboInOwl:hasExactSynonym "CCSSO"@en, "CTRCT25"@en, "central pouch-like cataract with sutural opacities"@en, "central saccular cataract with sutural opacities"@en, "early-onset cataract with Y-shaped suture opacities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110254"^^xsd:string ; a owl:Class ; rdfs:label "cataract 25"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110255 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116800"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110255"^^xsd:string ; a owl:Class ; rdfs:label "cataract 5 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110256 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610202"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT21"@en, "cataract 21 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA4"@en, "congenital cataract Cerulean type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110256"^^xsd:string ; a owl:Class ; rdfs:label "cataract 21 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110257 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601202"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT24"@en ; oboInOwl:hasNarrowSynonym "CTAA2"@en, "anterior polar cataract 2"@en, "anterior polar cataract 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110257"^^xsd:string ; a owl:Class ; rdfs:label "cataract 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110258 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:600881"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT10"@en ; oboInOwl:hasNarrowSynonym "CCZS"@en, "congenital zonular cataract with sutural opacities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110258"^^xsd:string ; a owl:Class ; rdfs:label "cataract 10 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110259 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616279"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110259"^^xsd:string ; a owl:Class ; rdfs:label "cataract 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110260 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 17q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115660"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT7"@en ; oboInOwl:hasNarrowSynonym "CCA1"@en, "Cerulean type cataract 7"@en, "congenital Cerulean type cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110260"^^xsd:string ; a owl:Class ; rdfs:label "cataract 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110261 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:609376"^^xsd:string ; oboInOwl:hasExactSynonym "CATCN1"@en, "CTRCT35"@en, "autosomal recessive congenital nuclear cataract 1"@en, "cataract 35, congenital nuclear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110261"^^xsd:string ; a owl:Class ; rdfs:label "cataract 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110262 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616851"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110262"^^xsd:string ; a owl:Class ; rdfs:label "cataract 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110263 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615277"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110263"^^xsd:string ; a owl:Class ; rdfs:label "cataract 19 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110264 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611391"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT33"@en ; oboInOwl:hasNarrowSynonym "cortical cataract 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110264"^^xsd:string ; a owl:Class ; rdfs:label "cataract 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110265 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605387"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT31"@en ; oboInOwl:hasNarrowSynonym "CPP3"@en, "CTPP3"@en, "posterior polar cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110265"^^xsd:string ; a owl:Class ; rdfs:label "cataract 31 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110266 obo:IAO_0000115 "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:604219"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT9"@en, "cataract 9 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CATC1"@en, "autosomal recessive congenital cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110266"^^xsd:string ; a owl:Class ; rdfs:label "cataract 9 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110267 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616509"^^xsd:string, "ORDO:98994"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT44"@en, "total early-onset cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110267"^^xsd:string ; a owl:Class ; rdfs:label "cataract 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110268 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:609741"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT22"@en ; oboInOwl:hasNarrowSynonym "CATCN2"@en, "autosomal recessive congenital nuclear cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110268"^^xsd:string ; a owl:Class ; rdfs:label "cataract 22 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110269 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601547"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT3"@en, "cataract 3 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA2"@en, "congenital Cerulean type cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110269"^^xsd:string ; a owl:Class ; rdfs:label "cataract 3 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110270 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611544"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT17"@en ; oboInOwl:hasNarrowSynonym "CATCN3"@en, "autosomal recessive congenital nuclear cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110270"^^xsd:string ; a owl:Class ; rdfs:label "cataract 17 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110271 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610425"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT23"@en, "lamellar cataract 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110271"^^xsd:string ; a owl:Class ; rdfs:label "cataract 23"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110272 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:302200"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT40"@en, "cataract 40 X-linked"@en, "cataract 40 with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110272"^^xsd:string ; a owl:Class ; rdfs:label "cataract 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110273 obo:IAO_0000115 "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:PS603511"^^xsd:string, "ORDO:102014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110273"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110274 obo:IAO_0000115 "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:PS253600"^^xsd:string, "ORDO:102015"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110274"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110275 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "GARD:3845"^^xsd:string, "ICD10CM:G71.0"^^xsd:string, "OMIM:253600"^^xsd:string, "ORDO:267"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2A"@en, "Leyden-Moebius muscular dystrophy"@en, "limb-girdle muscular dystrophy due to calpain deficiency"@en, "muscular dystrophy, limb-girdle, type 2A"@en, "pelvofemoral muscular dystrophy"@en, "primary calpainopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110275"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110276 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:253601"^^xsd:string, "ORDO:268"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2B"@en, "LGMD3"@en, "limb-girdle muscular dystrophy due to dysferlin deficiency"@en, "limb-girdle muscular dystrophy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110276"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110277 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:253700"^^xsd:string, "ORDO:353"^^xsd:string ; oboInOwl:hasExactSynonym "DMDA1"@en, "LGMD2C"@en, "Maghrebian myopathy"@en, "SCARMD"@en, "autosomal recessive Duchenne-like muscular dystrophy type 1"@en, "deficiency of sarcoglycan gamma"@en, "gamma-sarcoglycanopathy"@en, "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency"@en, "muscular dystrophy, limb-girdle, type 2C"@en, "severe childhood autosomal recessive muscular dystrophy North African type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110277"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110278 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608099"^^xsd:string, "ORDO:62"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha-sarcoglycanopathy"@en, "DMDA2"@en, "Duchenne-like autosomal recessive muscular dystrophy type 2"@en, "LGMD2D"@en, "muscular dystrophy, limb-girdle, type 2D"@en, "primary adhalinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110278"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110279 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:604286"^^xsd:string, "ORDO:119"^^xsd:string ; oboInOwl:hasExactSynonym "Beta-sarcoglycanopathy"@en, "LGMD2E"@en, "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"@en, "muscular dystrophy, limb-girdle, type 2E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110279"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110280 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601287"^^xsd:string, "ORDO:219"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2F"@en, "delta-sarcoglycanopathy"@en, "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110280"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2F"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110281 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601954"^^xsd:string, "ORDO:34514"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2G"@en, "limb-girdle muscular dystrophy due to telethonin deficiency"@en, "muscular dystrophy, limb-girdle, type 2G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110281"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2G"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110282 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:254110"^^xsd:string, "ORDO:1878"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2H"@en, "limb-girdle muscular dystrophy due to TRIM32 deficiency"@en, "muscular dystrophy Hutterite type"@en, "sarcotubular myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110282"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2H"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110283 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608807"^^xsd:string, "ORDO:140922"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2J"@en, "muscular dystrophy, limb-girdle, type 2J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110283"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2J"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110284 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:611307"^^xsd:string, "ORDO:206549"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2L"@en, "muscular dystrophy, limb-girdle, type 2L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110284"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2L"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110285 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613723"^^xsd:string, "ORDO:254361"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2Q"@en, "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency"@en, "muscular dystrophy, limb-girdle, type 2Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110285"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110286 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal recessive limb-girdle muscular dystrophy type 2R"^^xsd:string ; owl:deprecated true . obo:DOID_0110287 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:615356"^^xsd:string, "ORDO:369840"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2S"@en, "muscular dystrophy, limb-girdle, type 2S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110287"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2S"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110288 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616827"^^xsd:string, "ORDO:466801"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2W"@en, "muscular dystrophy, limb-girdle, type 2W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110288"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2W"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110289 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:617072"^^xsd:string, "ORDO:424261"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2Y"@en, "autosomal recessive muscular dystrophy due to LAP1B deficiency"@en, "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency"@en, "muscular dystrophy with progressive weakness, distal contractures and rigid spine"@en, "muscular dystrophy, limb-girdle, type 2Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110289"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110290 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616812"^^xsd:string, "ORDO:476084"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2X"@en, "muscular dystrophy, limb-girdle, type 2X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110290"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2X"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110291 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611755"^^xsd:string ; oboInOwl:hasExactSynonym "LCA10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110291"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110292 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613157"^^xsd:string, "ORDO:206564"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2O"@en, "MDDGC3"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3"@en, "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110292"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2O"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110293 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613818"^^xsd:string, "ORDO:280333"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2P"@en, "MDDGC9"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9"@en, "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110293"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2P"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110294 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:615352"^^xsd:string, "ORDO:363623"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2T"@en, "MDDGC14"@en, "muscular dystrophy limb-girdle type 2T"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14"@en, "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110294"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2T"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110295 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:616052"^^xsd:string, "ORDO:352479"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2U"@en, "MDDGC7"@en, "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"@en, "muscular dystrophy limb-girdle type 2U"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110295"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2U"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110296 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:611588"^^xsd:string, "ORDO:206554"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2M"@en, "MDDGC4"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110296"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2M"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110297 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609308"^^xsd:string, "ORDO:86812"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2K"@en, "MDDGC1"@en, "limb-girdle muscular dystrophy-intellectual disability syndrome"@en, "muscular dystrophy limb-girdle type 2K"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110297"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2K"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110298 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613158"^^xsd:string, "ORDO:206559"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2N"@en, "MDDGC2"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2"@en, "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110298"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2N"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110299 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:607155"^^xsd:string, "ORDO:34515"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2I"@en, "Limb-girdle muscular dystrophy due to FKRP deficiency"@en, "MDDGC5"@en, "muscular dystrophy limb-girdle type 2I"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5"@en, "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110299"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2I"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110300 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110300"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A"^^xsd:string ; owl:deprecated true . obo:DOID_0110301 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B"^^xsd:string ; owl:deprecated true . obo:DOID_0110302 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110302"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C"^^xsd:string ; owl:deprecated true . obo:DOID_0110303 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613530"^^xsd:string, "ORDO:238755"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1H"@en, "muscular dystrophy limb-girdle type 1H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110303"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1H"@en ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110304 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608423"^^xsd:string, "ORDO:55595"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1F"@en, "autosomal dominant limb-girdle muscular dystrophy type 1F"@en, "muscular dystrophy limb-girdle type 1F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110304"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110305 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:603511"^^xsd:string, "ORDO:34517"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1D"@en, "autosomal dominant limb-girdle muscular dystrophy type 1E"@en, "muscular dystrophy limb-girdle type 1D"@en, "muscular dystrophy limb-girdle type 1E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110305"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110306 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609115"^^xsd:string, "ORDO:55596"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1G"@en, "autosomal dominant limb-girdle muscular dystrophy type 1G"@en, "muscular dystrophy limb-girdle type 1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110306"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110307 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110325"^^xsd:string ; oboInOwl:hasDbXref "OMIM:192600"^^xsd:string ; oboInOwl:hasExactSynonym "CMH1"@en, "cardiomyopathy, familial hypertrophic 1"@en, "hypertrophic cardiomyopathy 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110307"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110308 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115195"^^xsd:string ; oboInOwl:hasExactSynonym "CMH2"@en, "cardiomyopathy familial hypertrophic 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110308"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110309 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115196"^^xsd:string ; oboInOwl:hasExactSynonym "CMH3"@en, "cardiomyopathy familial hypertrophic 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110309"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110310 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115197"^^xsd:string ; oboInOwl:hasExactSynonym "CMH4"@en, "cardiomyopathy, familial hypertrophic, 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110310"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110311 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614676"^^xsd:string ; oboInOwl:hasExactSynonym "CMH21"@en, "cardiomyopathy familial hypertrophic 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110311"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110312 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600858"^^xsd:string ; oboInOwl:hasExactSynonym "CMH6"@en, "cardiomyopathy, familial hypertrophic 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110312"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110313 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613690"^^xsd:string ; oboInOwl:hasExactSynonym "CMH7"@en, "cardiomyopathy, familial hypertrophic 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110313"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110314 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608751"^^xsd:string ; oboInOwl:hasExactSynonym "cardiomyopathy hypertrophic mid-left ventricular chamber type 1"@en, "cardiomyopathy, familial hypertrophic, 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110314"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110315 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613765"^^xsd:string ; oboInOwl:hasExactSynonym "CMH9"@en, "cardiomyopathy, familial hypertrophic, 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110315"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110316 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608758"^^xsd:string ; oboInOwl:hasExactSynonym "CMH10"@en, "cardiomyopathy, familial hypertrophic, 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110316"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110317 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612098"^^xsd:string ; oboInOwl:hasExactSynonym "CMH11"@en, "cardiomyopathy familial hypertrophic 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110317"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110318 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612124"^^xsd:string ; oboInOwl:hasExactSynonym "CMH12"@en, "cardiomyopathy familial hypertrophic 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110318"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110319 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613243"^^xsd:string ; oboInOwl:hasExactSynonym "CMH13"@en, "cardiomyopathy familial hypertrophic 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110319"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110320 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613251"^^xsd:string ; oboInOwl:hasExactSynonym "CMH14"@en, "cardiomyopathy familial hypertrophic 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110320"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110321 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613255"^^xsd:string ; oboInOwl:hasExactSynonym "CMH15"@en, "cardiomyopathy familial hypertrophic 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110321"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110322 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613838"^^xsd:string ; oboInOwl:hasExactSynonym "CMH16"@en, "cardiomyopathy familial hypertrophic 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110322"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110323 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613873"^^xsd:string ; oboInOwl:hasExactSynonym "CMH17"@en, "cardiomyopathy familial hypertrophic 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110323"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110324 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613874"^^xsd:string ; oboInOwl:hasExactSynonym "CMH18"@en, "cardiomyopathy familial hypertrophic 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110324"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110325 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertrophic cardiomyopathy 19"^^xsd:string ; owl:deprecated true . obo:DOID_0110326 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613876"^^xsd:string ; oboInOwl:hasExactSynonym "CMH20"@en, "cardiomyopathy familial hypertrophic 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110326"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110327 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617047"^^xsd:string ; oboInOwl:hasExactSynonym "CMH26"@en, "cardiomyopathy familial hypertrophic 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110327"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110328 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607487"^^xsd:string ; oboInOwl:hasExactSynonym "CMH25"@en, "cardiomyopathy familial hypertrophic 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110328"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110329 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613826"^^xsd:string ; oboInOwl:hasExactSynonym "LCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110329"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110330 obo:IAO_0000115 "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612712"^^xsd:string ; oboInOwl:hasExactSynonym "LCA13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110330"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110331 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604232"^^xsd:string ; oboInOwl:hasExactSynonym "LCA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110331"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110332 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604393"^^xsd:string ; oboInOwl:hasExactSynonym "LCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110332"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110333 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613829"^^xsd:string ; oboInOwl:hasExactSynonym "LCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110333"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110334 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8694"^^xsd:string, "MESH:D010013"^^xsd:string, "NCI:C99003"^^xsd:string, "OMIM:166200"^^xsd:string, "ORDO:216796"^^xsd:string, "SNOMEDCT_US_2021_03_01:3508009"^^xsd:string, "UMLS_CUI:C0023931"^^xsd:string ; oboInOwl:hasExactSynonym "OI1"@en, "osteogenesis imperfecta type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110334"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110335 obo:IAO_0000115 "An osteogenesis imperfecta found in a single South African family."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:166230"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110335"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures"^^xsd:string ; rdfs:subClassOf obo:DOID_12347 . obo:DOID_0110336 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10152"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610915"^^xsd:string ; oboInOwl:hasExactSynonym "OI8"@en, "osteogenesis imperfecta type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110336"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110337 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8701"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610682"^^xsd:string ; oboInOwl:hasExactSynonym "OI7"@en, "osteogenesis imperfecta type VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110337"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110338 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:616507"^^xsd:string ; oboInOwl:hasExactSynonym "OI17"@en, "osteogenesis imperfecta type XVII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110338"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110339 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8695"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:259420"^^xsd:string ; oboInOwl:hasExactSynonym "OI3"@en, "osteogenesis imperfecta type III"@en, "progressively deforming osteogenesis imperfecta with normal sclera"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110339"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110340 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8696"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:166220"^^xsd:string ; oboInOwl:hasExactSynonym "OI4"@en, "osteogenesis imperfecta type IV"@en, "osteogenesis imperfecta with normal sclera"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110340"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110341 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10142"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:166210"^^xsd:string ; oboInOwl:hasExactSynonym "OI2"@en, "Vrolik type of osteogenesis imperfecta"@en, "osteogenesis imperfecta type II"@en, "perinatal lethal osteogenesis imperfecta congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110341"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110342 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:614856"^^xsd:string ; oboInOwl:hasExactSynonym "OI13"@en, "osteogenesis imperfecta type XIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110342"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110343 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:615066"^^xsd:string ; oboInOwl:hasExactSynonym "OI14"@en, "osteogenesis imperfecta type XIV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110343"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110344 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:8699"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610967"^^xsd:string ; oboInOwl:hasExactSynonym "OI5"@en, "osteogenesis imperfecta type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110344"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110345 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:616229"^^xsd:string ; oboInOwl:hasExactSynonym "OI16"@en, "chromosome 11p11.2 deletion syndrome 91.3-KB"@en, "osteogenesis imperfecta type XVI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110345"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 16"^^xsd:string ; rdfs:subClassOf obo:DOID_12347 . obo:DOID_0110346 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:613848"^^xsd:string ; oboInOwl:hasExactSynonym "OI10"@en, "osteogenesis imperfecta type X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110346"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110347 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:615220"^^xsd:string ; oboInOwl:hasExactSynonym "OI15"@en, "osteogenesis imperfecta type XV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110347"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110348 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:613849"^^xsd:string ; oboInOwl:hasExactSynonym "OI12"@en, "osteogenesis imperfecta type XII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110348"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110349 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10619"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:259440"^^xsd:string ; oboInOwl:hasExactSynonym "OI9"@en, "osteogenesis imperfecta type IX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110349"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110350 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8700"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:613982"^^xsd:string ; oboInOwl:hasExactSynonym "OI6"@en, "osteogenesis imperfecta type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110350"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110351 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:610968"^^xsd:string ; oboInOwl:hasExactSynonym "OI11"@en, "osteogenesis imperfecta type XI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110351"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110352 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613861"^^xsd:string ; oboInOwl:hasExactSynonym "RP59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110352"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110353 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613794"^^xsd:string ; oboInOwl:hasExactSynonym "RP20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110353"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110354 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601718"^^xsd:string ; oboInOwl:hasExactSynonym "RP19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110354"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110355 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:609913"^^xsd:string ; oboInOwl:hasExactSynonym "RP32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110355"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 32"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110356 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601414"^^xsd:string ; oboInOwl:hasExactSynonym "RP18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110356"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110357 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610282"^^xsd:string ; oboInOwl:hasExactSynonym "RP35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110357"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110358 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600105"^^xsd:string ; oboInOwl:hasExactSynonym "RP12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110358"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110359 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615565"^^xsd:string ; oboInOwl:hasExactSynonym "RP67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110359"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 67"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110360 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613809"^^xsd:string ; oboInOwl:hasExactSynonym "RP39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110360"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 39"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110361 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:617023"^^xsd:string ; oboInOwl:hasExactSynonym "RP75"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110361"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110362 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613617"^^xsd:string ; oboInOwl:hasExactSynonym "RP58"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110362"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 58"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110363 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616394"^^xsd:string ; oboInOwl:hasExactSynonym "RP71"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110363"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110364 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613428"^^xsd:string ; oboInOwl:hasExactSynonym "RP54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110364"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 54"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110365 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:606068"^^xsd:string ; oboInOwl:hasExactSynonym "RP28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110365"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110366 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610359"^^xsd:string ; oboInOwl:hasExactSynonym "RP33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110366"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110367 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613862"^^xsd:string ; oboInOwl:hasExactSynonym "RP38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110367"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110368 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608380"^^xsd:string ; oboInOwl:hasExactSynonym "RP26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110368"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110369 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613758"^^xsd:string ; oboInOwl:hasExactSynonym "RP47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110369"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 47"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110370 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613575"^^xsd:string ; oboInOwl:hasExactSynonym "RP55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110370"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 55"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110371 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613581"^^xsd:string ; oboInOwl:hasExactSynonym "RP56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110371"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110372 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "MESH:C566706"^^xsd:string, "OMIM:613731"^^xsd:string ; oboInOwl:hasExactSynonym "RP4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110372"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110373 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614180"^^xsd:string ; oboInOwl:hasExactSynonym "RP61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110373"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 61"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110374 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615725"^^xsd:string ; oboInOwl:hasExactSynonym "RP68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110374"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110375 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613801"^^xsd:string ; oboInOwl:hasExactSynonym "RP40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110375"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110376 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612095"^^xsd:string ; oboInOwl:hasExactSynonym "RP41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110376"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110377 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613756"^^xsd:string ; oboInOwl:hasExactSynonym "RP49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110377"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 49"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110378 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612165"^^xsd:string ; oboInOwl:hasExactSynonym "RP29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110378"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110379 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613810"^^xsd:string ; oboInOwl:hasExactSynonym "RP43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110379"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 43"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110380 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614181"^^xsd:string ; oboInOwl:hasExactSynonym "RP62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110380"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110381 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600132"^^xsd:string ; oboInOwl:hasExactSynonym "RP14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110381"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110382 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613827"^^xsd:string ; oboInOwl:hasExactSynonym "RP48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110382"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 48"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110383 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608133"^^xsd:string ; oboInOwl:hasExactSynonym "RP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110383"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080578, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0110384 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602772"^^xsd:string ; oboInOwl:hasExactSynonym "RP25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110384"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110385 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614494"^^xsd:string ; oboInOwl:hasExactSynonym "RP63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110385"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110386 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612943"^^xsd:string ; oboInOwl:hasExactSynonym "RP42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110386"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110387 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180104"^^xsd:string ; oboInOwl:hasExactSynonym "RP9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110387"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110388 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180105"^^xsd:string ; oboInOwl:hasExactSynonym "RP10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110388"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110389 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616544"^^xsd:string ; oboInOwl:hasExactSynonym "RP73"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110389"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110390 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "MESH:C538365"^^xsd:string, "OMIM:180100"^^xsd:string ; oboInOwl:hasExactSynonym "RP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110390"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110391 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:609923"^^xsd:string ; oboInOwl:hasExactSynonym "RP31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110391"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 31"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110392 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615922"^^xsd:string ; oboInOwl:hasExactSynonym "RP70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110392"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110393 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615233"^^xsd:string ; oboInOwl:hasExactSynonym "RP66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110393"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 66"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110394 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613769"^^xsd:string ; oboInOwl:hasExactSynonym "RP44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110394"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 44"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110395 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616469"^^xsd:string ; oboInOwl:hasExactSynonym "RP72"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110395"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110396 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613194"^^xsd:string ; oboInOwl:hasExactSynonym "RP50"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110396"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110397 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613750"^^xsd:string ; oboInOwl:hasExactSynonym "RP27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110397"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110398 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613464"^^xsd:string ; oboInOwl:hasExactSynonym "RP51"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110398"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 51"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110399 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611131"^^xsd:string ; oboInOwl:hasExactSynonym "RP37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110399"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110400 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602594"^^xsd:string ; oboInOwl:hasExactSynonym "RP22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110400"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 22"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110401 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616562"^^xsd:string ; oboInOwl:hasExactSynonym "RP74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110401"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110402 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613767"^^xsd:string ; oboInOwl:hasExactSynonym "RP45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110402"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110403 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600059"^^xsd:string ; oboInOwl:hasExactSynonym "RP13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110403"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110404 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600852"^^xsd:string ; oboInOwl:hasExactSynonym "RP17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110404"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110405 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610599"^^xsd:string ; oboInOwl:hasExactSynonym "RP36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110405"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 36"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110406 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:607921"^^xsd:string ; oboInOwl:hasExactSynonym "RP30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110406"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 30"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110407 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613582"^^xsd:string ; oboInOwl:hasExactSynonym "RP57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110407"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110408 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600138"^^xsd:string ; oboInOwl:hasExactSynonym "RP11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110408"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110409 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612572"^^xsd:string ; oboInOwl:hasExactSynonym "RP46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110409"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 46"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110410 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615780"^^xsd:string ; oboInOwl:hasExactSynonym "RP69"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110410"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110411 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613983"^^xsd:string ; oboInOwl:hasExactSynonym "RP60"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110411"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110412 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300424"^^xsd:string ; oboInOwl:hasExactSynonym "RP23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110412"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110413 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:312612"^^xsd:string ; oboInOwl:hasExactSynonym "RP6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110413"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110414 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300029"^^xsd:string ; oboInOwl:hasExactSynonym "RP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110414"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 3"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110415 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:312600"^^xsd:string ; oboInOwl:hasExactSynonym "RP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110415"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110416 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300155"^^xsd:string ; oboInOwl:hasExactSynonym "RP24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110416"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110417 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300605"^^xsd:string ; oboInOwl:hasExactSynonym "RP34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110417"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 34"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110418 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:400004"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110418"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa Y-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0110419 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110419"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa with or without situs inversus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110420 obo:IAO_0000115 "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110420"^^xsd:string ; a owl:Class ; rdfs:label "dominant pericentral pigmentary retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110421 obo:IAO_0000115 "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:268025"^^xsd:string ; oboInOwl:hasExactSynonym "senile retinitis pigmentosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110421"^^xsd:string ; a owl:Class ; rdfs:label "late-adult onset retinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:HP_0003584 obo:HP_0003596 ) ] ] . obo:DOID_0110422 obo:IAO_0000115 "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:268060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110422"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive pericentral pigmentary retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110423 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601493"^^xsd:string ; oboInOwl:hasExactSynonym "CMDC1"@en, "dilated cardiomyopathy 1C with or without left ventricular noncompaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110423"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110424 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613122"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1CC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110424"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1CC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110425 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115200"^^xsd:string, "ORDO:300751"^^xsd:string ; oboInOwl:hasExactSynonym "CDCD1"@en, "dilated cardiomyopathy with conduction defect 1"@en, "familial dilated cardiomyopathy with conduction defect due to LMNA mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110425"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110426 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601494"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110426"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110427 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613697"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110427"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110428 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:612158"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1AA"@en, "dilated cardiomyopathy 1AA with or without left ventricular noncompaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110428"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1AA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110429 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604288"^^xsd:string ; oboInOwl:hasExactSynonym "dilated cardiomyopathy with conduction defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110429"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110430 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604145"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110430"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110431 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604765"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110431"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110432 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615916"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1NN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110432"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1NN"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110433 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601154"^^xsd:string ; oboInOwl:hasExactSynonym "CDCD2"@en, "CMD1E"@en, "dilated cardiomyopathy with conduction defect 2"@en, "dilated cardiomyopathy with conduction disorder and arrhythmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110433"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110434 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611879"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Z"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110434"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Z"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110435 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613642"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1GG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110435"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1GG"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110436 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:606685"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110436"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110437 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:605582"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110437"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110438 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615235"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1JJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110438"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1JJ"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110439 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:609909"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1P"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110439"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1P"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110440 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605362"^^xsd:string, "ORDO:217622"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1J"@en, "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss"@en, "neurosensory deafness with dilated cardiomyopathy"@en, "neurosensory hearing loss with dilated cardiomyopathy"@en, "sensorineural deafness with dilated cardiomyopathy"@en, "sensorineural hearing loss with dilated cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110440"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110441 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:614672"^^xsd:string ; oboInOwl:hasExactSynonym "CMD2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110441"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110442 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:609915"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110442"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110443 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:600884"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110443"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110444 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611615"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1X"@en, "dilated cardiomyopathy with mild or no proximal muscle weakness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110444"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110445 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615248"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1KK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110445"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1KK"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110446 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611407"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110446"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1W"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110447 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613172"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1DD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110447"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1DD"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110448 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613881"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1HH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110448"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1HH"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110449 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:607482"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1M"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110449"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1M"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110450 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615184"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110450"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110451 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:608569"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1O"@en, "dilated cardiomyopathy with ventricular tachycardia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110451"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110452 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1T"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110452"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1T"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110453 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613252"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1EE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110453"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1EE"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110454 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613426"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110454"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1S"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110455 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613694"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1U"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110455"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110456 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613424"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110456"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110457 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611878"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110457"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110458 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:612877"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1BB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110458"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1BB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110459 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613286"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1FF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110459"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1FF"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110460 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611880"^^xsd:string ; oboInOwl:hasExactSynonym "CMD2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110460"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110461 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060561"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "MESH:C580047"^^xsd:string, "OMIM:302045"^^xsd:string ; oboInOwl:hasExactSynonym "CMD3B"@en, "DMD-related dilated cardiomyopathy"@en, "dilated cardiomyopathy 3B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110461"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dilated cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110462 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615837"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB101"@en, "autosomal recessive deafness 101"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110462"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 101"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110463 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615974"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB102"@en, "autosomal recessive deafness 102"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110463"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 102"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110464 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616042"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB103"@en, "autosomal recessive deafness 103"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110464"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 103"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110465 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616515"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB104"@en, "autosomal recessive deafness 104"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110465"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 104"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110466 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110466"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal recessive nonsyndromic deafness 105"^^xsd:string ; owl:deprecated true . obo:DOID_0110467 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601386"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB12"@en, "autosomal recessive deafness 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110467"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110468 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603098"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB13"@en, "autosomal recessive deafness 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110468"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110469 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603678"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB14"@en, "autosomal recessive deafness 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110469"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110470 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601869"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB15"@en, "DFNB72"@en, "DFNB95"@en, "autosomal recessive deafness 15"@en, "autosomal recessive deafness 72"@en, "autosomal recessive deafness 95"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110470"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110471 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603720"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB16"@en, "autosomal recessive deafness 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110471"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110472 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603010"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB17"@en, "autosomal recessive deafness 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110472"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110473 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:602092"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB18A"@en, "autosomal recessive deafness 18A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110473"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 18A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110474 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614945"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB18B"@en, "autosomal recessive deafness 18B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110474"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 18B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110475 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:220290"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB1A"@en, "autosomal recessive deafness 1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110475"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110476 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612645"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB1B"@en, "autosomal recessive deafness 1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110476"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110477 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600060"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB2"@en, "autosomal recessive deafness 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110477"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110478 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:604060"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB20"@en, "autosomal recessive deafness 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110478"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110479 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603629"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB21"@en, "autosomal recessive deafness 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110479"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110480 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607039"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB22"@en, "autosomal recessive deafness 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110480"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110481 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609533"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB23"@en, "autosomal recessive deafness 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110481"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110482 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:611022"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB24"@en, "autosomal recessive deafness 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110482"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110483 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613285"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB25"@en, "autosomal recessive deafness 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110483"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110484 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605428"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB26"@en, "autosomal recessive deafness 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110484"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110485 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605818"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB27"@en, "autosomal recessive deafness 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110485"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110486 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609823"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB28"@en, "autosomal recessive deafness 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110486"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110487 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614035"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB29"@en, "autosomal recessive deafness 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110487"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110488 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600316"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB3"@en, "NRSD3"@en, "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110488"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110489 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607101"^^xsd:string, "ORDO:90636"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB30"@en, "autosomal recessive deafness 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110489"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110490 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607084"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB31"@en, "autosomal recessive deafness 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110490"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110491 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affeted men that has_material_basis_in mutation in CDC14A on chromosome 1p21.2."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110466"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608653"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB32"@en, "HIIMS"^^xsd:string, "autosomal recessive deafness 105"@en, "autosomal recessive deafness 32"@en, "hearing impairment infertile male syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110491"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110492 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607239"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB33"@en, "autosomal recessive deafness 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110492"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110493 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608565"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB35"@en, "autosomal recessive deafness 35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110493"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110494 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609006"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB36"@en, "autosomal recessive deafness 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110494"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110495 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607821"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB37"@en, "autosomal recessive deafness 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110495"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110496 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608219"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB38"@en, "autosomal recessive deafness 38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110496"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110497 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608265"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB39"@en, "autosomal recessive deafness 39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110497"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110498 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600791"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB4"@en, "autosomal recessive deafness 4 with enlarged vestibular aqueduct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110498"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110499 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608264"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB40"@en, "autosomal recessive deafness 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110499"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110500 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609646"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB42"@en, "autosomal recessive deafness 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110500"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110501 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610154"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB44"@en, "autosomal recessive deafness 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110501"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110502 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612433"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB45"@en, "autosomal recessive deafness 45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110502"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110503 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609647"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB46"@en, "autosomal recessive deafness 46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110503"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110504 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609946"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB47"@en, "autosomal recessive deafness 47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110504"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110505 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609439"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB48"@en, "autosomal recessive deafness 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110505"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110506 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610153"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB49"@en, "autosomal recessive deafness 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110506"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110507 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600792"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB5"@en, "autosomal recessive deafness 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110507"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110508 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609941"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB51"@en, "autosomal recessive deafness 51"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110508"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110509 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609706"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB53"@en, "autosomal recessive deafness 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110509"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110510 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9919"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:609952"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB55"@en, "autosomal recessive deafness 55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110510"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110511 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610220"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB59"@en, "autosomal recessive deafness 59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110511"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110512 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600971"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB6"@en, "autosomal recessive deafness 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110512"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110513 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613865"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB61"@en, "autosomal recessive deafness 61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110513"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110514 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610143"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB62"@en, "autosomal recessive deafness 62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110514"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110515 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:611451"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB63"@en, "autosomal recessive deafness 63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110515"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110516 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610248"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB65"@en, "autosomal recessive deafness 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110516"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110517 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610212"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB66"@en, "autosomal recessive deafness 66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110517"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110518 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610265"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB67"@en, "autosomal recessive deafness 67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110518"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110519 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610419"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB68"@en, "autosomal recessive deafness 68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110519"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110520 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600974"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB11"@en, "DFNB7"@en, "autosomal recessive deafness 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110520"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110521 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614934"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB70"@en, "autosomal recessive deafness 70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110521"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110522 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612789"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB71"@en, "autosomal recessive deafness 71"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110522"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110523 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613718"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB74"@en, "autosomal recessive deafness 74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110523"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110524 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615540"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB76"@en, "autosomal recessive deafness 76"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110524"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110525 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613079"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB77"@en, "autosomal recessive deafness 77"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110525"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110526 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613307"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB79"@en, "autosomal recessive deafness 79"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110526"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110527 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601072"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB10"@en, "DFNB8"@en, "NRSD8"@en, "autosomal recessive deafness 10"@en, "autosomal recessive deafness 8"@en, "childhood-onset neurosensory autosomal recessive deafness 8"@en, "neurosensory nonsyndromic recessive deafness 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110527"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110528 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613685"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB83"@en, "autosomal recessive deafness 83"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110528"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110529 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613391"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB84A"@en, "autosomal recessive deafness 84A"@en, "autosomal recessive deafness 84A with vestibular dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110529"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 84A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110530 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614944"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB84B"@en, "autosomal recessive deafness 84B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110530"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 84B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110531 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613392"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB85"@en, "autosomal recessive deafness 85"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110531"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 85"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110532 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614617"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB86"@en, "autosomal recessive deafness 86"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110532"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110533 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615429"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB88"@en, "autosomal recessive deafness 88"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110533"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110534 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613916"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB89"@en, "autosomal recessive deafness 89"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110534"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110535 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601071"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB9"@en, "NRSD9"@en, "autosomal recessive deafness 9"@en, "neurosensory nonsyndromic recessive deafness 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110535"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110536 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613453"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB91"@en, "autosomal recessive deafness 91"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110536"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110537 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614899"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB93"@en, "autosomal recessive deafness 93"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110537"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110538 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614414"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB96"@en, "autosomal recessive deafness 96"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110538"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 96"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110539 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616705"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB97"@en, "autosomal recessive deafness 97"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110539"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 97"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110540 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614861"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB98"@en, "autosomal recessive deafness 98"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110540"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 98"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110541 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:124900"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA1"@en, "Konigsmark syndrome"@en, "LFHL1"@en, "autosomal dominant deafness 1"@en, "autosomal dominant deafness 1, with or without thrombocytopenia"^^xsd:string, "hereditary low frequency hearing loss 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110541"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110542 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601316"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA10"@en, "autosomal dominant deafness 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110542"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110543 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601317"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA11"@en, "autosomal dominant deafness 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110543"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110544 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601543"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA12"@en, "DFNA8"@en, "autosomal dominant deafness 12"@en, "autosomal dominant deafness 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110544"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110545 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601868"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA13"@en, "autosomal dominant deafness 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110545"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110546 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:602459"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA15"@en, "autosomal dominant deafness 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110546"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110547 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603964"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA16"@en, "autosomal dominant deafness 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110547"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110548 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603622"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA17"@en, "autosomal dominant deafness 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110548"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110549 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606012"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA18"@en, "autosomal dominant deafness 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110549"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110550 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:604717"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA20"@en, "DFNA26"@en, "autosomal dominant deafness 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110550"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110551 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607017"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA21"@en, "autosomal dominant deafness 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110551"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110552 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606346"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA22"@en, "autosomal dominant deafness 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110552"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110553 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605192"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA23"@en, "autosomal dominant deafness 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110553"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110554 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter."^^xsd:string ; oboInOwl:hasDbXref "GARD:9166"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:606282"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA24"@en, "autosomal dominant deafness 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110554"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110555 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605583"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA25"@en, "autosomal dominant deafness 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110555"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110556 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612431"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA27"@en, "autosomal dominant deafness 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110556"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110557 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608641"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA28"@en, "autosomal dominant deafness 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110557"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110558 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600101"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA2A"@en, "autosomal dominant deafness 2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110558"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110559 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612644"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA2B"@en, "autosomal dominant deafness 2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110559"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110560 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606451"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA30"@en, "autosomal dominant deafness 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110560"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110561 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608645"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA31"@en, "autosomal dominant deafness 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110561"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110562 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614211"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA33"@en, "autosomal dominant deafness 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110562"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110563 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606705"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA36"@en, "autosomal dominant deafness 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110563"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110564 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601544"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA3A"@en, "autosomal dominant deafness 3A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110564"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110565 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612643"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA3B"@en, "autosomal dominant deafness 3B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110565"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110566 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616357"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA40"@en, "autosomal dominant deafness 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110566"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110567 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608224"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA41"@en, "autosomal dominant deafness 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110567"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110568 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608394"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA43"@en, "autosomal dominant deafness 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110568"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110569 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607453"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA44"@en, "autosomal dominant deafness 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110569"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110570 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608652"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA47"@en, "autosomal dominant deafness 47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110570"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110571 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607841"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA48"@en, "autosomal dominant deafness 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110571"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110572 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608372"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA49"@en, "autosomal dominant deafness 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110572"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110573 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600652"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA4A"@en, "autosomal dominant deafness 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110573"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110574 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614614"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA4B"@en, "autosomal dominant deafness 4B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110574"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110575 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600994"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA5"@en, "autosomal dominant deafness 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110575"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110576 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613074"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA50"@en, "autosomal dominant deafness 50"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110576"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110577 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613558"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA51"@en, "autosomal dominant deafness 51"@en, "chromosome 9q21.11 duplication syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110577"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564, obo:DOID_0060429, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0110578 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607683"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA52"@en, "autosomal dominant deafness 52"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110578"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110579 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9934"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:609965"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA53"@en, "autosomal dominant deafness 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110579"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110580 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615649"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA54"@en, "autosomal dominant deafness 54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110580"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110581 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615629"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA56"@en, "autosomal dominant deafness 56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110581"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110582 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615654"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA58"@en, "autosomal dominant deafness 58"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110582"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110583 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612642"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA59"@en, "autosomal dominant deafness 59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110583"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110584 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600965"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA14"@en, "DFNA38"@en, "DFNA6"@en, "autosomal dominant deafness 14"@en, "autosomal dominant deafness 38"@en, "autosomal dominant deafness 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110584"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110585 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614152"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA64"@en, "autosomal dominant deafness 64"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110585"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110586 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616044"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA65"@en, "autosomal dominant deafness 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110586"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110587 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616969"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA66"@en, "autosomal dominant deafness 66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110587"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110588 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616340"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA67"@en, "autosomal dominant deafness 67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110588"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110589 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616707"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA68"@en, "autosomal dominant deafness 68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110589"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110590 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616697"^^xsd:string ; oboInOwl:hasExactSynonym "DCUA"@en, "DFNA69"@en, "autosomal dominant deafness 69"@en, "unilateral or asymmetric congenital deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110590"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110591 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601412"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA7"@en, "autosomal dominant deafness 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110591"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110592 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616968"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA70"@en, "autosomal dominant deafness 70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110592"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110593 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601369"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA9"@en, "autosomal dominant deafness 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110593"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110594 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:244400"^^xsd:string ; oboInOwl:hasExactSynonym "CILD1"@en, "primary ciliary dyskinesia 1 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110594"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110595 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:243605"^^xsd:string ; oboInOwl:hasExactSynonym "CILD31"@en, "apple peel syndrome with microcephaly and ocular anomalies"@en, "jejunal atresia with microcephaly and ocular anomalies"@en, "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"@en, "primary ciliary dyskinesia 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110595"^^xsd:string ; a owl:Class ; rdfs:label "Stromme syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110596 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615294"^^xsd:string ; oboInOwl:hasExactSynonym "CILD21"@en, "primary ciliary dyskinesia 21 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110596"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110597 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615444"^^xsd:string ; oboInOwl:hasExactSynonym "CILD22"@en, "primary ciliary dyskinesia 22 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110597"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 22"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110598 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613807"^^xsd:string ; oboInOwl:hasExactSynonym "CILD14"@en, "primary ciliary dyskinesia 14 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110598"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110599 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608644"^^xsd:string ; oboInOwl:hasExactSynonym "CILD3"@en, "primary ciliary dyskinesia 3 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110599"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110600 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615872"^^xsd:string ; oboInOwl:hasExactSynonym "CILD29"@en, "primary ciliary dyskinesia 29 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110600"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 29"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110601 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612650"^^xsd:string ; oboInOwl:hasExactSynonym "CILD12"@en, "primary ciliary dyskinesia 12 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110601"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110602 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612649"^^xsd:string ; oboInOwl:hasExactSynonym "CILD11"@en, "primary ciliary dyskinesia 11 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110602"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110603 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616481"^^xsd:string ; oboInOwl:hasExactSynonym "CILD32"@en, "primary ciliary dyskinesia 32 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110603"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 32"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110604 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614874"^^xsd:string ; oboInOwl:hasExactSynonym "CILD18"@en, "primary ciliary dyskinesia 18 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110604"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110605 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:611884"^^xsd:string ; oboInOwl:hasExactSynonym "CILD7"@en, "primary ciliary dyskinesia 7 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110605"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110606 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:610852"^^xsd:string ; oboInOwl:hasExactSynonym "CILD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110606"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110607 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615505"^^xsd:string ; oboInOwl:hasExactSynonym "CILD28"@en, "primary ciliary dyskinesia 28 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110607"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 28"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110608 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614935"^^xsd:string ; oboInOwl:hasExactSynonym "CILD19"@en, "primary ciliary dyskinesia 19 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110608"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110609 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615451"^^xsd:string ; oboInOwl:hasExactSynonym "CILD23"@en, "primary ciliary dyskinesia 23 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110609"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110610 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617091"^^xsd:string ; oboInOwl:hasExactSynonym "CILD34"@en, "primary ciliary dyskinesia 34 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110610"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 34"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110611 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615504"^^xsd:string ; oboInOwl:hasExactSynonym "CILD27"@en, "primary ciliary dyskinesia 27 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110611"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110612 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612518"^^xsd:string ; oboInOwl:hasExactSynonym "CILD10"@en, "primary ciliary dyskinesia 10 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110612"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110613 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614017"^^xsd:string ; oboInOwl:hasExactSynonym "CILD16"@en, "primary ciliary dyskinesia 16 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110613"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110614 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608646"^^xsd:string ; oboInOwl:hasExactSynonym "CILD4"@en, "primary ciliary dyskinesia 4 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110614"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110615 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615482"^^xsd:string ; oboInOwl:hasExactSynonym "CILD25"@en, "primary ciliary dyskinesia 25 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110615"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110616 obo:IAO_0000115 "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612274"^^xsd:string ; oboInOwl:hasExactSynonym "CILD8"@en, "primary ciliary dyskinesia 8 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110616"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110617 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608647"^^xsd:string ; oboInOwl:hasExactSynonym "CILD5"@en, "primary ciliary dyskinesia 5 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110617"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110618 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613193"^^xsd:string ; oboInOwl:hasExactSynonym "CILD13"@en, "primary ciliary dyskinesia 13 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110618"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110619 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616726"^^xsd:string ; oboInOwl:hasExactSynonym "CILD33"@en, "primary ciliary dyskinesia 33 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110619"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 33"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110620 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617092"^^xsd:string ; oboInOwl:hasExactSynonym "CILD35"@en, "primary ciliary dyskinesia 35 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110620"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 35"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110621 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614679"^^xsd:string ; oboInOwl:hasExactSynonym "CILD17"@en, "primary ciliary dyskinesia 17 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110621"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110622 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612444"^^xsd:string ; oboInOwl:hasExactSynonym "CILD9"@en, "primary ciliary dyskinesia 9 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110622"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110623 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613808"^^xsd:string ; oboInOwl:hasExactSynonym "CILD15"@en, "primary ciliary dyskinesia 15 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110623"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110624 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616037"^^xsd:string ; oboInOwl:hasExactSynonym "CILD30"@en, "primary ciliary dyskinesia 30 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110624"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 30"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110625 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615067"^^xsd:string ; oboInOwl:hasExactSynonym "CILD20"@en, "primary ciliary dyskinesia 20 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110625"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110626 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:606763"^^xsd:string ; oboInOwl:hasExactSynonym "CILD2"@en, "primary ciliary dyskinesia 2 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110626"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110627 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615500"^^xsd:string ; oboInOwl:hasExactSynonym "CILD26"@en, "primary ciliary dyskinesia 26 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110627"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110628 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615481"^^xsd:string ; oboInOwl:hasExactSynonym "CILD24"@en, "primary ciliary dyskinesia 24 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110628"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110629 obo:IAO_0000115 "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13.8"^^xsd:string, "OMIM:222300"^^xsd:string ; oboInOwl:hasExactSynonym "DIDMOAD"@en, "WFS1"@en, "diabetes mellitus AND insipidus with optic atrophy AND deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110629"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110630 . obo:DOID_0110630 obo:IAO_0000115 "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13.8"^^xsd:string, "OMIM:604928"^^xsd:string ; oboInOwl:hasExactSynonym "WFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110630"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0110631 obo:IAO_0000115 "A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:779"^^xsd:string, "ICD10CM:M62.8"^^xsd:string, "OMIM:253900"^^xsd:string, "ORDO:1155"^^xsd:string ; oboInOwl:hasExactSynonym "congenital muscular dystrophy producing arthrogryposis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110631"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis due to muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557 . obo:DOID_0110632 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:602541"^^xsd:string, "ORDO:280671"^^xsd:string ; oboInOwl:hasExactSynonym "congenital megaconial myopathy"@en, "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"@en, "congenital muscular dystrophy with mitochondrial structural abnormalities"@en, "megaconial congenital muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110632"^^xsd:string ; a owl:Class ; rdfs:label "megaconial type congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110633 obo:IAO_0000115 "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:4723"^^xsd:string, "ICD10CM:G71.2"^^xsd:string, "ICD10CM:G71.8"^^xsd:string, "MESH:C535683"^^xsd:string, "OMIM:602771"^^xsd:string, "ORDO:324604"^^xsd:string, "ORDO:84132"^^xsd:string, "ORDO:97244"^^xsd:string ; oboInOwl:hasExactSynonym "Eichsfeld type congenital muscular dystrophy"@en, "MDRS1"@en, "RSMD1"@en, "RSS"@en, "SEPN1-related myopathy"@en, "classic MmD"@en, "classic multiminicore disease"@en, "classic multiminicore myopathy"@en, "congenital merosin-positive muscular dystrophy with early spine rigidity"@en, "desmin-related myopathy with Mallory bodies"@en, "desmin-related myopathy with Mallory body-like inclusions"@en, "early-onset desmin-related myopathy"@en, "rigid spine syndrome"@en, "severe classic form minicore myopathy"@en, "severe classic form multicore myopathy"@en, "severe classic form multiminicore disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110633"^^xsd:string ; a owl:Class ; rdfs:label "rigid spine muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0110634 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:604801"^^xsd:string, "ORDO:98893"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1B"@en, "MDC1B"@en, "congenital muscular dystrophy type 1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110634"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110635 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:606612"^^xsd:string, "ORDO:52428"^^xsd:string ; oboInOwl:hasExactSynonym "FKRP-related congenital muscular dystrophy"@en, "MDC1C"@en, "MDDGB5"@en, "congenital muscular dystrophy 1C"@en, "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5"^^xsd:string, "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110635"^^xsd:string ; a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy type B5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110636 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537384"^^xsd:string, "NCI:C118783"^^xsd:string, "OMIM:607855"^^xsd:string, "ORDO:258"^^xsd:string, "SNOMEDCT_US_2021_03_01:787037000"^^xsd:string, "UMLS_CUI:C1263858"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1A"@en, "MDC1A"@en, "Merosin-negative congenital muscular dystrophy"@en, "congenital muscular dystrophy due to laminin alpha2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital merosin-deficient muscular dystrophy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110637 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:608840"^^xsd:string, "ORDO:98894"^^xsd:string ; oboInOwl:hasExactSynonym "MDC1D"@en, "MDDGB6"@en, "congenital muscular dystrophy LARGE-related"@en, "congenital muscular dystrophy type 1D"@en, "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6"^^xsd:string, "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110637"^^xsd:string ; a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy type B6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110638 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110638"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy merosin-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110639 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613204"^^xsd:string, "ORDO:34520"^^xsd:string ; oboInOwl:hasExactSynonym "congenital muscular dystrophy with ITGA7 deficiency"@en, "congenital muscular dystrophy with integrin alpha-7 deficiency"@en, "congenital myopathy due to integrin alpha-7 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110639"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy due to integrin alpha-7 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110640 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613205"^^xsd:string, "ORDO:157973"^^xsd:string ; oboInOwl:hasExactSynonym "L-CMD"@en, "LMNA-related congenital muscular dystrophy"@en, "congenital muscular dystrophy LMNA-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110640"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy due to LMNA mutation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110644 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:3284"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:192500"^^xsd:string ; oboInOwl:hasExactSynonym "LQT1"@en, "ventricular fibrillation with prolonged QT interval"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110644"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110645 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3285"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613688"^^xsd:string ; oboInOwl:hasExactSynonym "LQT2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110645"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110646 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3286"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:603830"^^xsd:string ; oboInOwl:hasExactSynonym "LQT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110646"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110647 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10433"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613695"^^xsd:string ; oboInOwl:hasExactSynonym "LQT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110647"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110648 obo:IAO_0000115 "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10434"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613693"^^xsd:string ; oboInOwl:hasExactSynonym "LQT6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110648"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110649 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110649"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Timothy syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0110650 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10435"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611818"^^xsd:string ; oboInOwl:hasExactSynonym "LQT9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110650"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110651 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10436"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611819"^^xsd:string ; oboInOwl:hasExactSynonym "LQT10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110651"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110652 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10437"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611820"^^xsd:string ; oboInOwl:hasExactSynonym "LQT11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110652"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110653 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:612955"^^xsd:string ; oboInOwl:hasExactSynonym "LQT12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110653"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110654 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:613485"^^xsd:string ; oboInOwl:hasExactSynonym "LQT13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110654"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110655 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:616247"^^xsd:string ; oboInOwl:hasExactSynonym "LQT14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110655"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110656 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:616249"^^xsd:string ; oboInOwl:hasExactSynonym "LQT15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110656"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110657 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615120"^^xsd:string ; oboInOwl:hasExactSynonym "CMS8"@en, "congenital myasthenic syndrome 8 with pre- and postsynaptic defects"@en, "congenital myasthenic syndrome due to agrin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110657"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110658 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616227"^^xsd:string ; oboInOwl:hasExactSynonym "CMS15"@en, "congenital myasthenic syndrome 15 without tubular aggregates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110658"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110659 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616040"^^xsd:string ; oboInOwl:hasExactSynonym "CMS7"@en, "congenital myasthenic syndrome 7 presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110659"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110660 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610542"^^xsd:string ; oboInOwl:hasExactSynonym "CMS12"@en, "congenital myasthenia 12 with tubular aggregates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110660"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110661 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617143"^^xsd:string ; oboInOwl:hasExactSynonym "CMS20"@en, "congenital myasthenic syndrome 20 presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110661"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110662 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608930"^^xsd:string ; oboInOwl:hasExactSynonym "CMS1B"@en, "congenital myasthenic syndrome 1B, fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110662"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110663 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601462"^^xsd:string ; oboInOwl:hasExactSynonym "CMS IIa"@en, "CMS1A"@en, "congenital myasthenic syndrome 1A, slow-channel"@en, "congenital myasthenic syndrome type IIa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110663"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110664 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616323"^^xsd:string ; oboInOwl:hasExactSynonym "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110664"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110665 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616322"^^xsd:string ; oboInOwl:hasExactSynonym "CMS3B"@en, "congenital myasthenic syndrome 3B, fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110665"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110666 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616321"^^xsd:string ; oboInOwl:hasExactSynonym "CMS3A"@en, "congenital myasthenic syndrome 3A, slow-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110666"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110667 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603034"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ic"@en, "CMS5"@en, "EAD"@en, "Engel congenital myasthenic syndrome"@en, "congenital myasthenic syndrome Engel type"@en, "congenital myasthenic syndrome type Ic"@en, "end plate acetylcholinesterase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110667"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110668 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254300"^^xsd:string ; oboInOwl:hasExactSynonym "CMS10"@en, "LGM"@en, "familial limb-girdle myasthenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110668"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000222 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110669 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616228"^^xsd:string ; oboInOwl:hasExactSynonym "CMS14"@en, "CMSTA3"@en, "congenital myasthenic syndrome 14, with tubular aggregates"@en, "congenital myasthenic syndrome with tubular aggregates 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110669"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110670 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616325"^^xsd:string ; oboInOwl:hasExactSynonym "CMS9"@en, "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110670"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110671 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254210"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ia2"@en, "CMS1A2"@en, "CMS6"@en, "CMSEA"@en, "FIM"@en, "FIMG2"@en, "congenital myasthenic syndrome 6, presynaptic"@en, "congenital myasthenic syndrome type Ia2"@en, "congenital presynaptic myasthenic syndrome associated with episodic apnea"@en, "familial infantile myasthenia"@en, "familial infantile myasthenia gravis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110671"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110672 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617239"^^xsd:string ; oboInOwl:hasExactSynonym "CMS21"@en, "congenital myasthenic syndrome 21, presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110672"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110673 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616720"^^xsd:string ; oboInOwl:hasExactSynonym "CMS19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110673"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110674 obo:IAO_0000115 "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616304"^^xsd:string ; oboInOwl:hasExactSynonym "CMS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110674"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110675 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616326"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ie"@en, "CMS11"@en, "CMS1E"@en, "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency"@en, "congenital myasthenic syndrome 1e"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110675"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110676 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614750"^^xsd:string ; oboInOwl:hasExactSynonym "CMS13"@en, "CMSTA2"@en, "congenital myasthenic syndrome 13 with tubular aggregates"@en, "congenital myasthenic syndrome with tubular aggregates 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110676"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110677 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616324"^^xsd:string ; oboInOwl:hasExactSynonym "CMS4B"@en, "congenital myasthenic syndrome 4B fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110677"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110678 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605809"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ia1"@en, "CMS1A1"@en, "CMS4A"@en, "congenital myasthenic syndrome 4A slow-channel"@en, "congenital myasthenic syndrometype Ia1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110678"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110679 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608931"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Id"@en, "CMS1D"@en, "CMS4C"@en, "FIM1"@en, "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency"@en, "congenital myasthenic syndrome type Id"@en, "familial infantile myasthenia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110679"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110680 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616314"^^xsd:string ; oboInOwl:hasExactSynonym "CMS2C"@en, "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110680"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110681 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616313"^^xsd:string ; oboInOwl:hasExactSynonym "CMS2A"@en, "congenital myasthenic syndrome 2A slow-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110681"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110682 obo:IAO_0000115 "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614198"^^xsd:string ; oboInOwl:hasExactSynonym "CMS16"@en, "congenital myasthenic syndrome acetazolamide-responsive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110682"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110683 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616330"^^xsd:string ; oboInOwl:hasExactSynonym "CMS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110683"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110698 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605389"^^xsd:string ; oboInOwl:hasExactSynonym "Hhs"@en, "Hts"@en, "Hypt1"@en, "hereditary generalized hypotrichosis simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110698"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110699 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146520"^^xsd:string ; oboInOwl:hasExactSynonym "Htss1"@en, "Hypt2"@en, "Spanish type hypotrichosis"@en, "hypotrichosis simplex of the scalp 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110699"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110700 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613981"^^xsd:string ; oboInOwl:hasExactSynonym "Htss2"@en, "Hypt3"@en, "hypotrichosis simplex of the scalp 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110700"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110701 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146550"^^xsd:string ; oboInOwl:hasExactSynonym "Hypotrichosis, Marie Unna Type, 1"@en, "Hypt4"@en, "Marie Unna Hereditary Hypotrichosis 1"@en, "Muhh1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110701"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110702 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612841"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt5"@en, "Marie Unna Hereditary Hypotrichosis 2"@en, "Muhh2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110702"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110703 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607903"^^xsd:string ; oboInOwl:hasExactSynonym "Hypotrichosis, Localized, Autosomal Recessive 1"@en, "Hypt6"@en, "Lah1"@en, "Monilethrix-like hypotrichosis"@en, "autosomal recessive localized hypotrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110703"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110704 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604379"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt7"@en, "Lah2"@en, "hypotrichosis, localized, autosomal recessive 2"@en, "total Mari type hypotrichosis,"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110704"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110705 obo:IAO_0000115 "A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278150"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt8"@en, "Lah3"@en, "hypotrichosis, localized, autosomal recessive 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110705"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110706 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614237"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110706"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110707 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614238"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110707"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110708 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615059"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110708"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110709 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615885"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110709"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110710 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615896"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt13"@en, "hypotrichosis with woolly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110710"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110711 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3066"^^xsd:string, "OMIM:601553"^^xsd:string ; oboInOwl:hasExactSynonym "Hjmd"@en, "hypotrichosis with cone-rod dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110711"^^xsd:string ; a owl:Class ; rdfs:label "congenital hypotrichosis with juvenile macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110712 obo:IAO_0000115 "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258100"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBO1"@en, "congenital stationary night blindness Oguchi type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110712"^^xsd:string ; a owl:Class ; rdfs:label "Oguchi disease-1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110713 . obo:DOID_0110713 obo:IAO_0000115 "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613411"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBO2"@en, "congenital stationary night blindness Oguchi type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110713"^^xsd:string ; a owl:Class ; rdfs:label "Oguchi disease-2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110714 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616389"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1G"@en, "congenital stationary night blindness type 1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110714"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110715 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610444"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD3"@en, "Nougaret type congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110715"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110716 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:600118"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 1"@en, "WARBM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110716"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110717 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:614225"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 2"@en, "WARBM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110717"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110718 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:614222"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 3"@en, "WARBM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110718"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110719 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:615663"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 4"@en, "WARBM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110719"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110720 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:162350"^^xsd:string, "ORDO:228343"^^xsd:string ; oboInOwl:hasExactSynonym "CLN4B disease"@en, "autosomal dominant neuronal ceroid lipofuscinosis 4B"@en, "neuronal ceroid lipofuscinosis 4 Parry type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110720"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110721 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1219"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:256730"^^xsd:string, "ORDO:228329"^^xsd:string ; oboInOwl:hasExactSynonym "CLN1"@en, "neuronal ceroid lipofuscinosis 1 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110721"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110722 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "GARD:1220"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610951"^^xsd:string, "ORDO:228366"^^xsd:string ; oboInOwl:hasExactSynonym "CLN7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110722"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110723 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:600143"^^xsd:string, "ORDO:228354"^^xsd:string ; oboInOwl:hasExactSynonym "CLN8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110723"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110724 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:2163"^^xsd:string, "GARD:4010"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610003"^^xsd:string, "ORDO:1947"^^xsd:string ; oboInOwl:hasExactSynonym "EPMR"@en, "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant"@en, "progressive epilepsy with mental retardation, northern epilepsy"@en, "progressive epilepsy-intellectual disability syndrome, Finnish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110724"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 8 northern epilepsy variant"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110725 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:1218"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610127"^^xsd:string, "ORDO:228337"^^xsd:string ; oboInOwl:hasExactSynonym "CLN10"@en, "Cathepsin D deficiency"@en, "neuronal ceroid lipofuscinosis cathepsin D-deficient"@en, "neuronal ceroid lipofuscinosis due to cathepsin D deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110725"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110726 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:3045"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:204500"^^xsd:string, "ORDO:228349"^^xsd:string ; oboInOwl:hasExactSynonym "CLN2"@en, "neuronal ceroid lipofuscinosis 2 variable age at onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110726"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110727 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:615362"^^xsd:string, "ORDO:352709"^^xsd:string ; oboInOwl:hasExactSynonym "CLN13"@en, "neuronal ceroid lipofuscinosis 13 Kufs type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110727"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110728 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:1223"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:256731"^^xsd:string, "ORDO:228360"^^xsd:string ; oboInOwl:hasExactSynonym "CLN5"@en, "neuronal ceroid lipofuscinosis 5 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110728"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110729 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:1224"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:601780"^^xsd:string, "ORDO:228363"^^xsd:string ; oboInOwl:hasExactSynonym "CLN6"@en, "neuronal ceroid lipofuscinosis 6 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110729"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110730 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:204300"^^xsd:string, "ORDO:228340"^^xsd:string ; oboInOwl:hasExactSynonym "CLN4A"@en, "autosomal recessive neuronal ceroid lipofuscinosis 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110730"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110731 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050756"^^xsd:string ; oboInOwl:hasDbXref "GARD:5897"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:204200"^^xsd:string, "ORDO:228346"^^xsd:string ; oboInOwl:hasExactSynonym "Batten disease"@en, "CLN3"@en, "juvenile neuronal ceroid lipofuscinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110731"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110732 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:614706"^^xsd:string, "ORDO:314629"^^xsd:string ; oboInOwl:hasExactSynonym "CLN11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110732"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110733 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures."^^xsd:string ; oboInOwl:hasDbXref "GARD:6618"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:609055"^^xsd:string, "ORDO:228357"^^xsd:string ; oboInOwl:hasExactSynonym "CLN9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110733"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_14503 . obo:DOID_0110734 obo:IAO_0000115 "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia."^^xsd:string ; oboInOwl:hasDbXref "GARD:11899"^^xsd:string, "MESH:C538421"^^xsd:string, "OMIM:PS234200"^^xsd:string, "ORDO:385"^^xsd:string, "UMLS_CUI:C2931845"^^xsd:string ; oboInOwl:hasExactSynonym "NBIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110734"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0110735 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:2751"^^xsd:string, "ICD10CM:G23.0"^^xsd:string, "OMIM:256600"^^xsd:string ; oboInOwl:hasExactSynonym "INAD1"@en, "Infantile Neuroaxonal Dystrophy 1"@en, "NBIA2a"@en, "Neurodegeneration, Pla2g6-Associated"@en, "Seitelberger Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110735"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 2a"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110736 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:610217"^^xsd:string ; oboInOwl:hasExactSynonym "NBIA2b"@en, "Neuroaxonal Dystrophy, Atypical"@en, "Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110736"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 2b"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110737 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "MESH:C548080"^^xsd:string, "OMIM:606159"^^xsd:string, "ORDO:157846"^^xsd:string, "SNOMEDCT_US_2021_03_01:699299001"^^xsd:string, "UMLS_CUI:C1853578"^^xsd:string ; oboInOwl:hasExactSynonym "Adult basal ganglia disease"@en, "Ferritin-related neurodegeneration"@en, "Hereditary ferritinopathy"@en, "NBIA3"@en, "Neuroferritinopathy"@en, "Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110737"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110738 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:614298"^^xsd:string, "ORDO:289560"^^xsd:string ; oboInOwl:hasExactSynonym "MPAN"@en, "Mitochondrial Protein-Associated Neurodegeneration"@en, "NBIA due to C19orf12 mutation"@en, "NBIA4"@en, "Neurodegeneration with brain iron accumulation due to C19orf12 mutation"@en, "Neurodegeneration with brain iron accumulation type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110738"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110739 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:300894"^^xsd:string, "ORDO:329284"^^xsd:string ; oboInOwl:hasExactSynonym "BPAN"@en, "Beta-Propeller Protein-Associated Neurodegeneration"@en, "NBIA5"@en, "SENDA"@en, "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110739"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110740 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:615643"^^xsd:string, "ORDO:397725"^^xsd:string ; oboInOwl:hasExactSynonym "CoPAN"@en, "NBIA6"@en, "Neurodegeneration with brain iron accumulation due to COASY mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110740"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110741 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:125852"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM2"@en, "Insulin-Dependent Diabetes Mellitus 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110741"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9744, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110742 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600318"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM3"@en, "Insulin-Dependent Diabetes Mellitus 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110742"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110743 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600319"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM4"@en, "Insulin-Dependent Diabetes Mellitus 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110743"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110744 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600320"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM5"@en, "Insulin-Dependent Diabetes Mellitus 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110744"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 5"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110745 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601941"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM6"@en, "Insulin-Dependent Diabetes Mellitus 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110745"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110746 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600321"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM7"@en, "Insulin-Dependent Diabetes Mellitus 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110746"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110747 obo:IAO_0000115 "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600883"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM8"@en, "Insulin-Dependent Diabetes Mellitus 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110747"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 8"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110748 oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM9"@en, "Insulin-Dependent Diabetes Mellitus 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110748"^^xsd:string ; a owl:Class ; rdfs:comment "not in OMIM, missed that I shouldn't have added this one - Sue"^^xsd:string ; rdfs:label "obsolete type 1 diabetes mellitus 9"^^xsd:string ; owl:deprecated true . obo:DOID_0110749 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601942"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM10"@en, "Insulin-Dependent Diabetes Mellitus 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110749"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 10"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110750 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601208"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM11"@en, "Insulin-Dependent Diabetes Mellitus 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110750"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 11"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110751 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601388"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM12"@en, "Insulin-Dependent Diabetes Mellitus 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110751"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 12"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110752 obo:IAO_0000115 "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601318"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM13"@en, "Insulin-Dependent Diabetes Mellitus 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110752"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 13"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110753 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601666"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM15"@en, "Insulin-Dependent Diabetes Mellitus 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110753"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 15"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110754 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:603266"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM17"@en, "Insulin-Dependent Diabetes Mellitus 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110754"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 17"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110755 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:605598"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM18"@en, "Insulin-Dependent Diabetes Mellitus 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110755"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 18"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110756 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:610155"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM19"@en, "Insulin-Dependent Diabetes Mellitus 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110756"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 19"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110757 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612520"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM20"@en, "Insulin-Dependent Diabetes Mellitus 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110757"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 20"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110758 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612521"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM21"@en, "Insulin-Dependent Diabetes Mellitus 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110758"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 21"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110759 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612522"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM22"@en, "Insulin-Dependent Diabetes Mellitus 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110759"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 22"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110760 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612622"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM23"@en, "Insulin-Dependent Diabetes Mellitus 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110760"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 23"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110761 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:613006"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM24"@en, "Insulin-Dependent Diabetes Mellitus 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110761"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 24"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110762 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary spastic paraplegia 1"^^xsd:string ; owl:deprecated true . obo:DOID_0110763 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9590"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604187"^^xsd:string, "ORDO:100991"^^xsd:string ; oboInOwl:hasExactSynonym "SPG10"@en, "autosomal dominant spastic paraplegia 10"@en, "autosomal dominant spastic paraplegia type 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110763"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110764 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4919"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604360"^^xsd:string, "ORDO:2822"^^xsd:string ; oboInOwl:hasExactSynonym "HSP-TCC"@en, "Nakamura-Osame syndrome"@en, "SPG11"@en, "autosomal recessive spastic paraplegia 11"@en, "autosomal recessive spastic paraplegia complicated with thin corpus callosum"@en, "autosomal recessive spastic paraplegia type 11"@en, "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum"@en, "spastic paraplegia-intellectual disability-thin corpus callosum syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110764"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110765 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9586"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604805"^^xsd:string, "ORDO:100993"^^xsd:string ; oboInOwl:hasExactSynonym "SPG12"@en, "autosomal dominant spastic paraplegia 12"@en, "autosomal dominant spastic paraplegia type 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110765"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110766 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9616"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:605280"^^xsd:string, "ORDO:100994"^^xsd:string ; oboInOwl:hasExactSynonym "SPG13"@en, "autosomal dominant spastic paraplegia 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110766"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110767 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28."^^xsd:string ; oboInOwl:hasDbXref "GARD:9589"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:605229"^^xsd:string, "ORDO:100995"^^xsd:string ; oboInOwl:hasExactSynonym "SPG14"@en, "autosomal recessive spastic paraplegia 14"@en, "autosomal recessive spastic paraplegia type 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110767"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110768 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9581"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270700"^^xsd:string, "ORDO:100996"^^xsd:string ; oboInOwl:hasExactSynonym "Kjellin syndrome"@en, "SPG15"@en, "autosomal recessive spastic paraplegia 15"@en, "autosomal recessive spastic paraplegia type 15"@en, "hereditary spastic paraparesis type 15"@en, "spastic paraplegia and retinal degeneration"@en, "spastic paraplegia-retinal degeneration syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110768"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110769 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9585"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:300266"^^xsd:string, "ORDO:100997"^^xsd:string ; oboInOwl:hasExactSynonym "SPG16"@en, "X-linked spastic paraplegia 16"@en, "X-linked spastic paraplegia type 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110769"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110770 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4219"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270685"^^xsd:string, "ORDO:100998"^^xsd:string ; oboInOwl:hasExactSynonym "SPG17"@en, "Silver spastic paraplegia syndrome"@en, "Silver syndrome"@en, "autosomal dominant spastic paraplegia 17"@en, "autosomal dominant spastic paraplegia type 17"@en, "dHMN5B"@en, "distal hereditary motor neuropathy type 5B"@en, "spastic paraplegia with amyotrophy of hands and feet"@en, "spastic paraplegia-amyotrophy of hands and feet"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110770"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110771 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4922"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:611225"^^xsd:string, "ORDO:209951"^^xsd:string ; oboInOwl:hasExactSynonym "IDMDC"@en, "SPG18"@en, "autosomal recessive spastic paraplegia 18"@en, "autosomal recessive spastic paraplegia type 18"@en, "intellectual disability, motor dysfunction and joint contractures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110771"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110772 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q."^^xsd:string ; oboInOwl:hasDbXref "GARD:9588"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:607152"^^xsd:string, "ORDO:100999"^^xsd:string ; oboInOwl:hasExactSynonym "SPG19"@en, "autosomal dominant spastic paraplegia 19"@en, "autosomal dominant spastic paraplegia type 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110772"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110773 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4923"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:312920"^^xsd:string, "ORDO:99015"^^xsd:string ; oboInOwl:hasExactSynonym "SPG2"@en, "X-linked spastic paraplegia 2"@en, "spastic paraplegia type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110773"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110774 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:336"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270750"^^xsd:string, "ORDO:101003"^^xsd:string ; oboInOwl:hasExactSynonym "Lison syndrome"@en, "SPG23"@en, "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome"@en, "spastic paraplegia 23"@en, "spastic paraplegia with pigmentary abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110774"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110775 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:9296"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:607584"^^xsd:string, "ORDO:101004"^^xsd:string ; oboInOwl:hasExactSynonym "SPG24"@en, "autosomal recessive spastic paraplegia 24"@en, "autosomal recessive spastic paraplegia type 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110775"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110776 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9582"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:608220"^^xsd:string, "ORDO:101005"^^xsd:string ; oboInOwl:hasExactSynonym "SPG25"@en, "autosomal recessive spastic paraplegia 25"@en, "autosomal recessive spastic paraplegia type 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110776"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110777 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9587"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:609195"^^xsd:string, "ORDO:101006"^^xsd:string ; oboInOwl:hasExactSynonym "GM2 synthase deficiency"@en, "SPG26"@en, "autosomal recessive spastic paraplegia 26"@en, "autosomal recessive spastic paraplegia type 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110777"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110778 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:609041"^^xsd:string, "ORDO:101007"^^xsd:string ; oboInOwl:hasExactSynonym "SPG27"@en, "autosomal recessive spastic paraplegia 27"@en, "autosomal recessive spastic paraplegia type 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110778"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110779 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:609340"^^xsd:string, "ORDO:101008"^^xsd:string ; oboInOwl:hasExactSynonym "SPG28"@en, "autosomal recessive spastic paraplegia 28"@en, "autosomal recessive spastic paraplegia type 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110779"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110780 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9729"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:609727"^^xsd:string, "ORDO:101009"^^xsd:string ; oboInOwl:hasExactSynonym "SPG29"@en, "autosomal dominant spastic paraplegia 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110780"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110781 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:610357"^^xsd:string, "ORDO:101010"^^xsd:string ; oboInOwl:hasExactSynonym "SPG30"@en, "autosomal recessive spastic paraplegia 30"@en, "autosomal spastic paraplegia type 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110781"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110782 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10817"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:610250"^^xsd:string, "ORDO:101011"^^xsd:string ; oboInOwl:hasExactSynonym "SPG31"@en, "autosomal dominant spastic paraplegia 31"@en, "autosomal dominant spastic paraplegia type 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110782"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110783 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:12749"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:611252"^^xsd:string, "ORDO:171622"^^xsd:string ; oboInOwl:hasExactSynonym "SPG32"@en, "autosomal recessive spastic paraplegia 32"@en, "autosomal recessive spastic paraplegia type 32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110783"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110784 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610244"^^xsd:string ; oboInOwl:hasExactSynonym "SPG33"@en, "autosomal dominant spastic paraplegia 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110784"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110785 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:300750"^^xsd:string, "ORDO:171607"^^xsd:string ; oboInOwl:hasExactSynonym "SPG34"@en, "X-linked spastic paraplegia 34"@en, "X-linked spastic paraplegia type 34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110785"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110786 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612319"^^xsd:string, "ORDO:171629"^^xsd:string ; oboInOwl:hasExactSynonym "FAHN"@en, "SPG35"@en, "autosomal recessive spastic paraplegia 35"@en, "autosomal recessive spastic paraplegia type 35"@en, "fatty acid hydroxylase-associated neurodegeneration"@en, "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110786"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110787 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613096"^^xsd:string, "ORDO:320365"^^xsd:string ; oboInOwl:hasExactSynonym "SPG36"@en, "autosomal dominant spastic paraplegia 36"@en, "autosomal dominant spastic paraplegia type 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110787"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110788 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:611945"^^xsd:string, "ORDO:171612"^^xsd:string ; oboInOwl:hasExactSynonym "SPG37"@en, "autosomal dominant spastic paraplegia 37"@en, "autosomal dominant spastic paraplegia type 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110788"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110789 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612335"^^xsd:string, "ORDO:171617"^^xsd:string ; oboInOwl:hasExactSynonym "SPG38"@en, "autosomal dominant spastic paraplegia 38"@en, "autosomal dominant spastic paraplegia type 38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110789"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110790 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4924"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:612020"^^xsd:string, "ORDO:139480"^^xsd:string ; oboInOwl:hasExactSynonym "NTE-related motor neuron disorder"@en, "NTEMND"@en, "SPG39"@en, "autosomal recessive spastic paraplegia 39"@en, "autosomal recessive spastic paraplegia type 39"@en, "spastic paraplegia due to NTE mutation"@en, "spastic paraplegia due to neuropathy target esterase mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110790"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110791 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5041"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:182600"^^xsd:string, "ORDO:100984"^^xsd:string ; oboInOwl:hasExactSynonym "FSP1"@en, "SPG3A"@en, "autosomal dominant familial spastic paraplegia 1"@en, "autosomal dominant spastic paraplegia 3"@en, "autosomal dominant spastic paraplegia type 3"@en, "strumpell disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110791"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110792 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:182601"^^xsd:string, "ORDO:100985"^^xsd:string ; oboInOwl:hasExactSynonym "SPG4"@en, "autosomal dominant spastic paraplegia 4"@en, "autosomal dominant spastic paraplegia type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110792"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110793 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613364"^^xsd:string, "ORDO:320355"^^xsd:string ; oboInOwl:hasExactSynonym "SPG41"@en, "autosomal dominant spastic paraplegia 41"@en, "autosomal dominant spastic paraplegia type 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110793"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110794 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612539"^^xsd:string, "ORDO:171863"^^xsd:string ; oboInOwl:hasExactSynonym "SPG42"@en, "autosomal dominant spastic paraplegia 42"@en, "autosomal dominant spastic paraplegia type 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110794"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110795 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615043"^^xsd:string, "ORDO:320370"^^xsd:string ; oboInOwl:hasExactSynonym "SPG43"@en, "autosomal recessive spastic paraplegia 43"@en, "autosomal recessive spastic paraplegia type 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110795"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110796 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613206"^^xsd:string, "ORDO:320401"^^xsd:string ; oboInOwl:hasExactSynonym "SPG44"@en, "autosomal recessive spastic paraplegia 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110796"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110797 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613162"^^xsd:string, "ORDO:320396"^^xsd:string ; oboInOwl:hasExactSynonym "SPG45"@en, "SPG65"@en, "autosomal recessive spastic paraplegia 45"@en, "autosomal recessive spastic paraplegia type 45"@en, "autosomal recessive spastic paraplegia type 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110797"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110798 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:614409"^^xsd:string, "ORDO:320391"^^xsd:string ; oboInOwl:hasExactSynonym "SPG46"@en, "autosomal recessive spastic paraplegia 46"@en, "autosomal recessive spastic paraplegia type 46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110798"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110799 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614066"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ5"@en, "SPG47"@en, "autosomal recessive spastic paraplegia 47"@en, "spastic quadriplegic cerebral palsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110799"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110800 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613647"^^xsd:string, "ORDO:306511"^^xsd:string ; oboInOwl:hasExactSynonym "SPG48"@en, "autosomal recessive spastic paraplegia 48"@en, "autosomal recessive spastic paraplegia type 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110800"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110801 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615031"^^xsd:string, "ORDO:320385"^^xsd:string ; oboInOwl:hasExactSynonym "SPG49"@en, "autosomal recessive spastic paraplegia 49"@en, "autosomal recessive spastic paraplegia type 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110801"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110802 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612936"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "AP-4 deficiency syndrome"^^xsd:string, "AP-4-Associated Hereditary Spastic Paraplegia"^^xsd:string, "CPSQ3"@en, "SPG50"@en, "adaptor protein complex 4 deficiency"^^xsd:string, "autosomal recessive spastic paraplegia 50"@en, "spastic quadriplegic cerebral palsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110802"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110803 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10999"^^xsd:string, "OMIM:613744"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ4"@en, "SPG51"@en, "autosomal dominant spastic paraplegia 51"@en, "spastic quadriplegic cerebral palsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110803"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110804 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614067"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ6"@en, "SPG52"@en, "autosomal recessive spastic paraplegia 52"@en, "spastic quadriplegic cerebral palsy 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110804"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110805 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:614898"^^xsd:string, "ORDO:319199"^^xsd:string ; oboInOwl:hasExactSynonym "SPG53"@en, "autosomal recessive spastic paraplegia 53"@en, "autosomal recessive spastic paraplegia type 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110805"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110806 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615033"^^xsd:string, "ORDO:320380"^^xsd:string ; oboInOwl:hasExactSynonym "SPG54"@en, "autosomal recessive spastic paraplegia 54"@en, "autosomal recessive spastic paraplegia type 54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110806"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110807 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615035"^^xsd:string, "ORDO:320375"^^xsd:string ; oboInOwl:hasExactSynonym "SPG55"@en, "autosomal recessive spastic paraplegia 55"@en, "autosomal recessive spastic paraplegia type 55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110807"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110808 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615030"^^xsd:string, "ORDO:320411"^^xsd:string ; oboInOwl:hasExactSynonym "SPG56"@en, "autosomal recessive spastic paraplegia 56"@en, "autosomal recessive spastic paraplegia type 56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110808"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110809 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615658"^^xsd:string, "ORDO:431329"^^xsd:string ; oboInOwl:hasExactSynonym "SPG57"@en, "autosomal recessive spastic paraplegia 57"@en, "autosomal recessive spastic paraplegia type 57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110809"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110810 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4926"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270800"^^xsd:string, "ORDO:100986"^^xsd:string ; oboInOwl:hasExactSynonym "SPG5A"@en, "autosomal recessive spastic paraplegia 5A"@en, "autosomal recessive spastic paraplegia type 5A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110810"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110811 obo:IAO_0000115 "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:600363"^^xsd:string, "ORDO:100988"^^xsd:string ; oboInOwl:hasExactSynonym "FSP3"@en, "SPG6"@en, "autosomal dominant familial spastic paraplegia type 3"@en, "autosomal dominant spastic paraplegia 6"@en, "autosomal dominant spastic paraplegia type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110811"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110812 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615685"^^xsd:string, "ORDO:401780"^^xsd:string ; oboInOwl:hasExactSynonym "SPG61"@en, "autosomal recessive spastic paraplegia 61"@en, "autosomal recessive spastic paraplegia type 61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110812"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110813 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615681"^^xsd:string, "ORDO:401785"^^xsd:string ; oboInOwl:hasExactSynonym "SPG62"@en, "autosomal recessive spastic paraplegia 62"@en, "autosomal recessive spastic paraplegia type 62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110813"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110814 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615686"^^xsd:string, "ORDO:401805"^^xsd:string ; oboInOwl:hasExactSynonym "SPG63"@en, "autosomal recessive spastic paraplegia 63"@en, "spastic paraplegia 63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110814"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110815 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615683"^^xsd:string, "ORDO:401810"^^xsd:string ; oboInOwl:hasExactSynonym "SPG64"@en, "autosomal recessive spastic paraplegia 64"@en, "autosomal recessive spastic paraplegia type 64"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110815"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110816 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:607259"^^xsd:string, "ORDO:99013"^^xsd:string ; oboInOwl:hasExactSynonym "SPG7"@en, "autosomal recessive spastic paraplegia 7"@en, "spastic paraplegia type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110816"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110817 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615625"^^xsd:string, "ORDO:401849"^^xsd:string ; oboInOwl:hasExactSynonym "SPG72"@en, "autosomal spastic paraplegia type 72"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110817"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110818 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616282"^^xsd:string, "ORDO:444099"^^xsd:string ; oboInOwl:hasExactSynonym "SPG73"@en, "autosomal dominant spastic paraplegia 73"@en, "autosomal dominant spastic paraplegia type 73"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110818"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110819 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616451"^^xsd:string, "ORDO:468661"^^xsd:string ; oboInOwl:hasExactSynonym "SPG74"@en, "autosomal recessive spastic paraplegia 74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110819"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110820 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616680"^^xsd:string, "ORDO:459056"^^xsd:string ; oboInOwl:hasExactSynonym "SPG75"@en, "autosomal recessive spastic paraplegia 75"@en, "autosomal recessive spastic paraplegia type 75"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110820"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110821 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616907"^^xsd:string ; oboInOwl:hasExactSynonym "SPG76"@en, "autosomal recessive spastic paraplegia 76"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110821"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110822 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:617046"^^xsd:string, "ORDO:466722"^^xsd:string ; oboInOwl:hasExactSynonym "SPG77"@en, "autosomal recessive spastic paraplegia 77"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110822"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110823 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9591"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:603563"^^xsd:string, "ORDO:100989"^^xsd:string ; oboInOwl:hasExactSynonym "SPG8"@en, "autosomal dominant spastic paraplegia 8"@en, "autosomal dominant spastic paraplegia type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110823"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110824 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:601162"^^xsd:string, "ORDO:100990"^^xsd:string, "ORDO:447753"^^xsd:string ; oboInOwl:hasExactSynonym "AD-SPG9A"@en, "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome"@en, "SPG9A"@en, "autosomal dominant complex spastic paraplegia type 9A"@en, "autosomal dominant spastic paraplegia 9A"@en, "cataracts with motor neuronopathy, short stature and skeletal abnormalities"@en, "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux"@en, "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110824"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 9A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110825 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616586"^^xsd:string, "ORDO:447760"^^xsd:string ; oboInOwl:hasExactSynonym "SPG9B"@en, "autosomal recessive complex spastic paraplegia type 9B"@en, "autosomal recessive spastic paraplegia 9B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110825"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 9B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110826 obo:IAO_0000115 "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276900"^^xsd:string, "ORDO:231169"^^xsd:string ; oboInOwl:hasExactSynonym "US1"@en, "USH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110826"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110827 obo:IAO_0000115 "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa."^^xsd:string ; oboInOwl:hasDbXref "MESH:D052245"^^xsd:string, "NCI:C126328"^^xsd:string, "ORDO:231178"^^xsd:string, "SNOMEDCT_US_2020_03_01:232058008"^^xsd:string ; oboInOwl:hasExactSynonym "USH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110827"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Usher syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110828 obo:IAO_0000115 "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:5442"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C126329"^^xsd:string, "ORDO:231183"^^xsd:string ; oboInOwl:hasExactSynonym "USH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110828"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Usher syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110829 obo:IAO_0000115 "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "GARD:4684"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C126329"^^xsd:string, "OMIM:500004"^^xsd:string, "ORDO:231183"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010610007"^^xsd:string, "UMLS_CUI:C1568248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110829"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb."^^xsd:string ; rdfs:label "retinitis pigmentosa-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110830 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276904"^^xsd:string ; oboInOwl:hasExactSynonym "USH1C"@en, "Usher syndrome type I Acadian variety"@en, "Usher syndrome type IC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110830"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110831 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601067"^^xsd:string ; oboInOwl:hasExactSynonym "USH1D"@en, "Usher syndrome type ID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110831"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0110832 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602083"^^xsd:string ; oboInOwl:hasExactSynonym "USH1F"@en, "Usher syndrome type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110832"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110833 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602097"^^xsd:string ; oboInOwl:hasExactSynonym "USH1E"@en, "Usher syndrome type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110833"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110834 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:606943"^^xsd:string ; oboInOwl:hasExactSynonym "USH1G"@en, "Usher syndrome type IG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110834"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110835 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612632"^^xsd:string ; oboInOwl:hasExactSynonym "USH1H"@en, "Usher syndrome type IH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110835"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826 . obo:DOID_0110836 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614869"^^xsd:string ; oboInOwl:hasExactSynonym "USH1J"@en, "Usher syndrome type IJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110836"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110837 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614990"^^xsd:string ; oboInOwl:hasExactSynonym "USH1K"@en, "Usher syndrome type IK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110837"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1K"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110838 obo:IAO_0000115 "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "GARD:5440"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "OMIM:276901"^^xsd:string ; oboInOwl:hasExactSynonym "USH2A"@en, "Usher syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110838"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110839 obo:IAO_0000115 "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:605472"^^xsd:string ; oboInOwl:hasExactSynonym "USH2C"@en, "Usher syndrome type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110839"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110840 obo:IAO_0000115 "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611383"^^xsd:string ; oboInOwl:hasExactSynonym "USH2D"@en, "Usher syndrome type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110840"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110841 obo:IAO_0000115 "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276902"^^xsd:string ; oboInOwl:hasExactSynonym "USH3A"@en, "Usher syndrome type IIIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110841"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110842 . obo:DOID_0110842 obo:IAO_0000115 "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614504"^^xsd:string ; oboInOwl:hasExactSynonym "USH3B"@en, "Usher syndrome type IIIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110842"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110843 obo:IAO_0000115 "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278700"^^xsd:string ; oboInOwl:hasExactSynonym "XP group A"@en, "XP1"@en, "XPA"@en, "xeroderma pigmentosum 1"@en, "xeroderma pigmentosum complementation group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110843"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110844 obo:IAO_0000115 "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278720"^^xsd:string ; oboInOwl:hasExactSynonym "XP group C"@en, "XP3"@en, "XPC"@en, "XPCC"@en, "xeroderma pigmentosum III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110844"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110845 obo:IAO_0000115 "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278730"^^xsd:string ; oboInOwl:hasExactSynonym "XP group D"@en, "XP group H"@en, "XP4"@en, "XP8"@en, "XPD"@en, "XPDC"@en, "XPH"@en, "xeroderma pigmentosum IV"@en, "xeroderma pigmentosum VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110845"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110846 obo:IAO_0000115 "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278740"^^xsd:string ; oboInOwl:hasExactSynonym "XP group E"@en, "XP5"@en, "XPE"@en, "xeroderma pigmentosum V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110846"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110847 obo:IAO_0000115 "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5630"^^xsd:string, "ICD10CM:Q82.1"^^xsd:string, "OMIM:278750"^^xsd:string ; oboInOwl:hasExactSynonym "XPV"@en, "photosensitivity with defective DNA synthesis"@en, "xeroderma pigmentosum with normal DNA repair rates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110847"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum variant type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110848 obo:IAO_0000115 "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278760"^^xsd:string ; oboInOwl:hasExactSynonym "XP group F"@en, "XP6"@en, "XPF"@en, "xeroderma pigmentosum VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110848"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110849 obo:IAO_0000115 "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278780"^^xsd:string ; oboInOwl:hasExactSynonym "XP group G"@en, "XP7"@en, "XPG"@en, "xeroderma pigmentosum VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110849"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110850 obo:IAO_0000115 "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:610651"^^xsd:string ; oboInOwl:hasExactSynonym "XP group B"@en, "XPB"@en, "XPBC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110850"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110851 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:6049"^^xsd:string, "ICD10CM:Q77.3"^^xsd:string, "OMIM:215100"^^xsd:string, "ORDO:309789"^^xsd:string ; oboInOwl:hasExactSynonym "Pbd9"@en, "Peroxisome Biogenesis Disorder 9"@en, "Rcdp1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110851"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110852 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:222765"^^xsd:string, "ORDO:309796"^^xsd:string ; oboInOwl:hasExactSynonym "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Dhapat Deficiency"@en, "Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Glyceronephosphate O-Acyltransferase Deficiency"@en, "Gnpat Deficiency"@en, "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Rcdp2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110852"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110853 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:600121"^^xsd:string, "ORDO:309803"^^xsd:string ; oboInOwl:hasExactSynonym "Agps Deficiency"@en, "Alkyldihydroxyacetonephosphate Synthase Deficiency"@en, "Alkylglycerone-Phosphate Synthase Deficiency"@en, "Rcdp3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110853"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110854 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616716"^^xsd:string, "ORDO:468717"^^xsd:string ; oboInOwl:hasExactSynonym "Rcdp5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110854"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110855 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:122000"^^xsd:string ; oboInOwl:hasExactSynonym "Ched1"@en, "Corneal Endothelial Dystrophy 1, Autosomal Dominant"@en, "Maumenee Corneal Dystrophy"@en, "Ppcd1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110855"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110856 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:609140"^^xsd:string ; oboInOwl:hasExactSynonym "Ppcd2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110856"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110857 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:609141"^^xsd:string ; oboInOwl:hasExactSynonym "Ppcd3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110857"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110858 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:173900"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd1"@en, "Pkd1"@en, "Polycystic Kidney Disease, Adult, Type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110858"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110859 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613095"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd2"@en, "Pkd2"@en, "Polycystic Kidney Disease, Adult, Type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110859"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110860 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600666"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd3"@en, "Pkd3"@en, "Polycystic Kidney Disease, Adult, Type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110860"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110861 obo:IAO_0000115 "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion."^^xsd:string ; oboInOwl:hasDbXref "GARD:8378"^^xsd:string, "ICD10CM:Q61.1"^^xsd:string, "ICD9CM:753.14"^^xsd:string, "MESH:D017044"^^xsd:string, "NCI:C84579"^^xsd:string, "OMIM:263200"^^xsd:string, "ORDO:731"^^xsd:string, "SNOMEDCT_US_2021_03_01:28770003"^^xsd:string, "UMLS_CUI:C0085548"^^xsd:string ; oboInOwl:hasExactSynonym "Arpkd"@en, "Pkhd1"@en, "Polycystic Kidney Disease, Infantile, Type I"@en, "Polycystic Kidney and Hepatic Disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive polycystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080322, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110862 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610445"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD1"@en, "rhodopsin-related congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110862"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110863 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:163500"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD2"@en, "Rambusch type congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110863"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110864 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615058"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1F"@en, "congenital stationary night blindness 1F autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110864"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110865 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257270"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1B"@en, "autosomal recessive complete congenital stationary night blindness"@en, "congenital stationary night blindness 1B autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110865"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110866 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617024"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1H"@en, "congenital stationary night blindness type 1H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110866"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110867 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613216"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1C"@en, "congenital stationary night blindness 1C autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110867"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110868 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613830"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1D"@en, "congenital stationary night blindness 1D autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110868"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110869 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614565"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1E"@en, "congenital stationary night blindness 1E autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110869"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110870 obo:IAO_0000115 "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310500"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1A"@en, "NBMI"@en, "complete CSNB X-linked"@en, "congenital stationary night blindness 1A X-linked"@en, "congenital stationary night blindness with myopia"@en, "hemeralopia-myopia"@en, "myopia-night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110870"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110871 obo:IAO_0000115 "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300071"^^xsd:string ; oboInOwl:hasExactSynonym "congenital stationary night blindness 2A X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110871"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110872 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:157170"^^xsd:string ; oboInOwl:hasExactSynonym "HPE2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110872"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110873 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610829"^^xsd:string ; oboInOwl:hasExactSynonym "HPE9"@en, "holoprosencephaly with microphthalmia and first branchial arch anomalies"@en, "pituitary anomalies with holoprosencephaly-like features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110873"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110874 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605934"^^xsd:string ; oboInOwl:hasExactSynonym "HPE6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110874"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_4621 . obo:DOID_0110875 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142945"^^xsd:string ; oboInOwl:hasExactSynonym "HLP3"@en, "HPE3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110875"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110876 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610828"^^xsd:string ; oboInOwl:hasExactSynonym "HPE7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110876"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110877 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614226"^^xsd:string ; oboInOwl:hasExactSynonym "HPE11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110877"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110878 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609637"^^xsd:string ; oboInOwl:hasExactSynonym "HPE5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110878"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110879 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609408"^^xsd:string ; oboInOwl:hasExactSynonym "HPE8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110879"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_4621 . obo:DOID_0110880 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142946"^^xsd:string ; oboInOwl:hasExactSynonym "HPE4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110880"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110881 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236100"^^xsd:string ; oboInOwl:hasExactSynonym "HPE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110881"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110882 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605225"^^xsd:string ; oboInOwl:hasExactSynonym "IBD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110882"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110883 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612261"^^xsd:string ; oboInOwl:hasExactSynonym "IBD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110883"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110884 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612381"^^xsd:string ; oboInOwl:hasExactSynonym "IBD23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110884"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110885 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611081"^^xsd:string ; oboInOwl:hasExactSynonym "IBD10"@en, "inflammatory bowel disease (Crohn disease) 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110885"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110886 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608448"^^xsd:string ; oboInOwl:hasExactSynonym "IBD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110886"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110887 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612241"^^xsd:string ; oboInOwl:hasExactSynonym "IBD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110887"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110888 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612262"^^xsd:string ; oboInOwl:hasExactSynonym "IBD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110888"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110889 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606348"^^xsd:string ; oboInOwl:hasExactSynonym "IBD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110889"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110890 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612278"^^xsd:string ; oboInOwl:hasExactSynonym "IBD19"@en, "inflammatory bowel disease (Crohn disease) 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110890"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110891 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604519"^^xsd:string ; oboInOwl:hasExactSynonym "IBD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110891"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110892 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:266600"^^xsd:string ; oboInOwl:hasExactSynonym "IBD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110892"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110893 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612244"^^xsd:string ; oboInOwl:hasExactSynonym "IBD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110893"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110894 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:191390"^^xsd:string ; oboInOwl:hasExactSynonym "IBD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110894"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110895 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612245"^^xsd:string ; oboInOwl:hasExactSynonym "IBD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110895"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110896 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612259"^^xsd:string ; oboInOwl:hasExactSynonym "IBD16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110896"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110897 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612255"^^xsd:string ; oboInOwl:hasExactSynonym "IBD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110897"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110898 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612288"^^xsd:string ; oboInOwl:hasExactSynonym "IBD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110898"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110899 obo:IAO_0000115 "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613148"^^xsd:string ; oboInOwl:hasExactSynonym "IBD28"@en, "early onset autosomal recessive inflammatory bowel disease 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110899"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110900 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601458"^^xsd:string ; oboInOwl:hasExactSynonym "IBD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110900"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110901 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612639"^^xsd:string ; oboInOwl:hasExactSynonym "IBD26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110901"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110902 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612796"^^xsd:string ; oboInOwl:hasExactSynonym "IBD27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110902"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110903 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606675"^^xsd:string ; oboInOwl:hasExactSynonym "IBD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110903"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110904 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606668"^^xsd:string ; oboInOwl:hasExactSynonym "IBD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110904"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110905 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612380"^^xsd:string ; oboInOwl:hasExactSynonym "IBD22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110905"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110906 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612354"^^xsd:string ; oboInOwl:hasExactSynonym "IBD21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110906"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110907 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606674"^^xsd:string ; oboInOwl:hasExactSynonym "IBD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110907"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110908 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612566"^^xsd:string ; oboInOwl:hasExactSynonym "IBD24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110908"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110909 obo:IAO_0000115 "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612567"^^xsd:string ; oboInOwl:hasExactSynonym "IBD25"@en, "early onset autosomal recessive inflammatory bowel disease 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110909"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110910 obo:IAO_0000115 "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:116920"^^xsd:string, "ORDO:99842"^^xsd:string ; oboInOwl:hasExactSynonym "LAD1"@en, "LFA1 immunodeficiency"@en, "leukocyte adhesion deficiency type I"@en, "lymphocyte function-associated antigen 1 immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110910"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0110912 obo:IAO_0000115 "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612840"^^xsd:string, "ORDO:99844"^^xsd:string ; oboInOwl:hasExactSynonym "IADD"@en, "LAD1 variant"@en, "LAD1V"@en, "LAD3"@en, "integrin activation deficiency disease"@en, "leukocyte adhesion deficiency 1 variant"@en, "leukocyte adhesion deficiency type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110912"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0110913 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146300"^^xsd:string, "ORDO:247676"^^xsd:string ; oboInOwl:hasExactSynonym "mild hypophosphatasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110913"^^xsd:string ; a owl:Class ; rdfs:label "adult hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0110914 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:241500"^^xsd:string, "ORDO:247651"^^xsd:string ; oboInOwl:hasExactSynonym "Hops"@en, "phosphoethanolaminuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110914"^^xsd:string ; a owl:Class ; rdfs:label "infantile hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213 . obo:DOID_0110915 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:8735"^^xsd:string, "OMIM:241510"^^xsd:string, "ORDO:247667"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110915"^^xsd:string ; a owl:Class ; rdfs:label "childhood hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0110916 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:182900"^^xsd:string ; oboInOwl:hasExactSynonym "HS1"@en, "SPH1"@en, "hereditary spherocytosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110916"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110917 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616649"^^xsd:string ; oboInOwl:hasExactSynonym "HS2"@en, "SPH2"@en, "hereditary spherocytosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110917"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110918 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:270970"^^xsd:string ; oboInOwl:hasExactSynonym "HS3"@en, "SPH3"@en, "hereditary spherocytosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110918"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110919 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612653"^^xsd:string ; oboInOwl:hasExactSynonym "HS4"@en, "SPH4"@en, "hereditary spherocytosis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110919"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110920 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612690"^^xsd:string ; oboInOwl:hasExactSynonym "HS5"@en, "SPH5"@en, "hereditary spherocytosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110920"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110921 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:267700"^^xsd:string ; oboInOwl:hasExactSynonym "FHL1"@en, "HLH1"@en, "HPLH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110921"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110922 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9922"^^xsd:string, "OMIM:603553"^^xsd:string ; oboInOwl:hasExactSynonym "FHL2"@en, "HLH2"@en, "HPLH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110922"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110923 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9928"^^xsd:string, "OMIM:608898"^^xsd:string ; oboInOwl:hasExactSynonym "FHL3"@en, "HLH3"@en, "HPLH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110923"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110924 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9929"^^xsd:string, "OMIM:603552"^^xsd:string ; oboInOwl:hasExactSynonym "FHL4"@en, "HLH4"@en, "HPLH4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110924"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110925 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613101"^^xsd:string ; oboInOwl:hasExactSynonym "FHL5"@en, "HLH5"@en, "HPLH5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110925"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050177, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110926 obo:IAO_0000115 "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609284"^^xsd:string ; oboInOwl:hasExactSynonym "NEM1"@en, "nemaline myopathy 1, autosomal dominant or recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110926"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110927 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:161800"^^xsd:string ; oboInOwl:hasExactSynonym "NEM3"@en, "nemaline myopathy 3, autosomal dominant or recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110927"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110928 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256030"^^xsd:string ; oboInOwl:hasExactSynonym "NEM2"@en, "nemaline myopathy 2, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110928"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110929 obo:IAO_0000115 "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615731"^^xsd:string ; oboInOwl:hasExactSynonym "NEM9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110929"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110930 obo:IAO_0000115 "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615348"^^xsd:string ; oboInOwl:hasExactSynonym "NEM8"@en, "nemaline myopathy 8, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110930"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110931 obo:IAO_0000115 "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616165"^^xsd:string ; oboInOwl:hasExactSynonym "NEM10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110931"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110932 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609285"^^xsd:string ; oboInOwl:hasExactSynonym "NEM4"@en, "nemaline myopathy 4, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110932"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110933 obo:IAO_0000115 "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617336"^^xsd:string ; oboInOwl:hasExactSynonym "NEM11"@en, "nemaline myopathy 11, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110933"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110934 obo:IAO_0000115 "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610687"^^xsd:string ; oboInOwl:hasExactSynonym "NEM7"@en, "nemaline myopathy 7, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110934"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110935 obo:IAO_0000115 "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609273"^^xsd:string ; oboInOwl:hasExactSynonym "nemaline myopathy 6, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110935"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110936 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605355"^^xsd:string ; oboInOwl:hasExactSynonym "ANM"@en, "Amish nemaline myopathy"@en, "NEM5"@en, "nemaline myopathy 5, Amish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110936"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110937 obo:IAO_0000115 "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536056"^^xsd:string, "OMIM:607634"^^xsd:string, "ORDO:2783"^^xsd:string, "UMLS_CUI:C1843330"^^xsd:string ; oboInOwl:hasExactSynonym "OPTA1"@en, "autosomal dominant osteopetrosis type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110937"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant osteopetrosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110938 obo:IAO_0000115 "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:383"^^xsd:string, "MESH:D010022"^^xsd:string, "OMIM:166600"^^xsd:string, "ORDO:53"^^xsd:string, "SNOMEDCT_US_2021_03_01:725050005"^^xsd:string, "UMLS_CUI:C3179239"^^xsd:string ; oboInOwl:hasExactSynonym "Albers-Schonberg osteopetrosis"@en, "OPTA2"@en, "autosomal dominant Albers-Schonberg disease"@en, "autosomal dominant osteopetrosis type II"@en, "osteopetrosis autosomal dominant type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110938"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant osteopetrosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060564, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0110939 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4153"^^xsd:string, "OMIM:259720"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB5"@en, "infantile malignant osteopetrosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110939"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110940 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615085"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110940"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110941 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4154"^^xsd:string, "OMIM:259730"^^xsd:string ; oboInOwl:hasExactSynonym "Guibaud-Vainsel syndrome"@en, "OPTB3"@en, "autosomal recessive osteopetrosis 3 with renal tubular acidosis"@en, "carbonic anhydrase II deficiency"@en, "marble brain disease"@en, "osteopetrosis with renal tubular acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110941"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110942 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2579"^^xsd:string, "OMIM:259700"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB1"@en, "autosomal recessive Albers-Schonberg disease"@en, "infantile malignant osteopetrosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110942"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110943 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:4157"^^xsd:string, "OMIM:259710"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB2"@en, "mild autosomal recessive form osteopetrosis"@en, "osteoclast-poor osteopetrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110943"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110944 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5993"^^xsd:string, "OMIM:611490"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB4"@en, "infantile malignant osteopetrosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110944"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110945 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:4156"^^xsd:string, "OMIM:611497"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB6"@en, "autosomal recessive osteopetrosis intermediate form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110945"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110946 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10106"^^xsd:string, "ICD10CM:Q78.2"^^xsd:string, "OMIM:612301"^^xsd:string, "ORDO:178389"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB7"@en, "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia"@en, "autosomal recessive osteopetrosis type 7"@en, "osteoclast-poor osteopetrosis with hypogammaglobulinemia"@en, "osteopetrosis-hypogammaglobulinemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110946"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110947 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5522"^^xsd:string, "OMIM:600193"^^xsd:string ; oboInOwl:hasExactSynonym "WS2B"@en, "Waardenburg syndrome type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110947"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110948 obo:IAO_0000115 "A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014849"^^xsd:string, "NCI:C75008"^^xsd:string, "OMIM:193500"^^xsd:string, "ORDO:894"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010606009"^^xsd:string, "UMLS_CUI:C1847800"^^xsd:string ; oboInOwl:hasExactSynonym "WS1"@en, "Waardenburg syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Waardenburg syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110949 obo:IAO_0000115 "A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:5523"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "OMIM:148820"^^xsd:string, "ORDO:896"^^xsd:string ; oboInOwl:hasExactSynonym "Klein-Waardenburg syndrome"@en, "WS3"@en, "Waardenburg syndrome type III"@en, "Waardenburg syndrome with upper limb anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110949"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110950 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5521"^^xsd:string, "OMIM:193510"^^xsd:string ; oboInOwl:hasExactSynonym "WS2A"@en, "Waardenburg syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110950"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110951 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606662"^^xsd:string ; oboInOwl:hasExactSynonym "WS2C"@en, "Waardenburg syndrome type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110951"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110952 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608890"^^xsd:string ; oboInOwl:hasExactSynonym "WS2D"@en, "Waardenburg syndrome type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110952"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110953 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277580"^^xsd:string ; oboInOwl:hasExactSynonym "WS4A"@en, "Waardenburg syndrome type IVA"@en, "Waardenburg syndrome with Hirschsprung disease type 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110953"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110954 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613265"^^xsd:string ; oboInOwl:hasExactSynonym "WS4B"@en, "Waardenburg syndrome type IVB"@en, "Waardenburg syndrome with Hirschsprung disease type 4B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110954"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110955 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613266"^^xsd:string ; oboInOwl:hasExactSynonym "WS4C"@en, "Waardenburg syndrome type IVC"@en, "Waardenburg syndrome with Hirschsprung disease type 4C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110955"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110956 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611584"^^xsd:string ; oboInOwl:hasExactSynonym "WS2E"@en, "WS2E with or without neurological involvement"@en, "Waardenburg syndrome type 2E with or without neurologic involvement"@en, "Waardenburg syndrome type IIE"@en, "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110956"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110957 obo:IAO_0000115 "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:230800"^^xsd:string, "ORDO:77259"^^xsd:string ; oboInOwl:hasExactSynonym "Acid Beta-Glucosidase Deficiency"@en, "GD I"@en, "GD1"^^xsd:string, "Gaucher Disease, Noncerebral Juvenile"@en, "Gba Deficiency"@en, "Glucocerebrosidase Deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110957"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type I"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110958 obo:IAO_0000115 "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:230900"^^xsd:string, "ORDO:77260"^^xsd:string ; oboInOwl:hasExactSynonym "GD II"@en, "GD2"^^xsd:string, "Gaucher Disease, Acute Neuronopathic Type"@en, "Infantile Cerebral Gaucher Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110958"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type II"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110959 obo:IAO_0000115 "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:231000"^^xsd:string, "ORDO:77261"^^xsd:string ; oboInOwl:hasExactSynonym "GD III"@en, "Gaucher Disease, Chronic Neuronopathic Type"@en, "Gaucher Disease, Juvenile And Adult, Cerebral"@en, "Gaucher Disease, Subacute Neuronopathic Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110959"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110960 obo:IAO_0000115 "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:608013"^^xsd:string, "ORDO:85212"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal Gaucher Disease"@en, "Gaucher Disease, Collodion Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110960"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease perinatal lethal"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110961 obo:IAO_0000115 "A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:610539"^^xsd:string, "ORDO:309252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110961"^^xsd:string ; a owl:Class ; rdfs:label "atypical Gaucher's disease due to saposin c deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110962 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:112450"^^xsd:string, "ORDO:1278"^^xsd:string ; oboInOwl:hasExactSynonym "Christian brachydactyly"@en, "preaxial brachydactyly with hallux varus and thumb abduction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110962"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly-preaxial hallux varus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110963 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:112440"^^xsd:string, "ORDO:93395"^^xsd:string ; oboInOwl:hasExactSynonym "Ballard type brachydactyly"@en, "Pitt-Williams brachydactyly"@en, "brachydactyly types B and E combined"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110963"^^xsd:string ; a owl:Class ; rdfs:label "Ballard syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110964 obo:IAO_0000115 "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:978"^^xsd:string, "OMIM:112500"^^xsd:string, "ORDO:93388"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1"@en, "Farabee type brachydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110964"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110965 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:979"^^xsd:string, "MESH:C537089"^^xsd:string, "OMIM:112600"^^xsd:string, "ORDO:93396"^^xsd:string, "SNOMEDCT_US_2021_03_01:720569006"^^xsd:string, "UMLS_CUI:C1832702"^^xsd:string ; oboInOwl:hasExactSynonym "BDA2"@en, "Mohr-Wriedt type brachydactyly"@en, "brachymesophalangy II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110965"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110966 obo:IAO_0000115 "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger."^^xsd:string ; oboInOwl:hasDbXref "GARD:963"^^xsd:string, "OMIM:112700"^^xsd:string ; oboInOwl:hasExactSynonym "BDA3"@en, "brachydactyly-clinodactyly"@en, "brachymesophalangy V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110966"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110967 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus."^^xsd:string ; oboInOwl:hasDbXref "GARD:990"^^xsd:string, "ICD10CM:Q73.8"^^xsd:string, "OMIM:112800"^^xsd:string, "ORDO:93394"^^xsd:string ; oboInOwl:hasExactSynonym "BDA4"@en, "Temtamy type brachydactyly"@en, "brachymesophalangy II and V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110967"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110968 obo:IAO_0000115 "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions."^^xsd:string ; oboInOwl:hasDbXref "GARD:983"^^xsd:string, "MESH:C537092"^^xsd:string, "OMIM:112910"^^xsd:string, "ORDO:93382"^^xsd:string, "SNOMEDCT_US_2021_03_01:715722003"^^xsd:string, "UMLS_CUI:C1862130"^^xsd:string ; oboInOwl:hasExactSynonym "BDA6"@en, "Osebold-Remondini syndrome"@en, "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110968"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110969 obo:IAO_0000115 "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113000"^^xsd:string ; oboInOwl:hasExactSynonym "BDB1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110969"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110970 obo:IAO_0000115 "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:986"^^xsd:string, "MESH:C537093"^^xsd:string, "OMIM:113100"^^xsd:string, "ORDO:93384"^^xsd:string, "SNOMEDCT_US_2021_03_01:389169005"^^xsd:string, "UMLS_CUI:C1300268"^^xsd:string, "UMLS_CUI:C1862103"^^xsd:string ; oboInOwl:hasExactSynonym "BDC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110970"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110971 obo:IAO_0000115 "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113200"^^xsd:string ; oboInOwl:hasExactSynonym "BDD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110971"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110972 obo:IAO_0000115 "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113300"^^xsd:string ; oboInOwl:hasExactSynonym "BDE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110972"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type E1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110973 obo:IAO_0000115 "A brachydactyly characterized by short, abducted thumbs and great toes."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535914"^^xsd:string, "OMIM:301940"^^xsd:string, "ORDO:2565"^^xsd:string, "SNOMEDCT_US_2021_03_01:733095006"^^xsd:string, "UMLS_CUI:C2931060"^^xsd:string ; oboInOwl:hasExactSynonym "Mononen type brachydactyly"@en, "short and abducted thumbs and great toes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110973"^^xsd:string ; a owl:Class ; rdfs:label "Mononen-Karnes-Senac syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002389 ) ] ] . obo:DOID_0110974 obo:IAO_0000115 "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607004"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110974"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110975 obo:IAO_0000115 "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:611377"^^xsd:string, "ORDO:140908"^^xsd:string ; oboInOwl:hasExactSynonym "BDB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110975"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110976 obo:IAO_0000115 "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613382"^^xsd:string ; oboInOwl:hasExactSynonym "BDE2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110976"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type E2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110977 obo:IAO_0000115 "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615072"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110977"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110978 obo:IAO_0000115 "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616849"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110978"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110979 obo:IAO_0000115 "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position."^^xsd:string ; oboInOwl:hasDbXref "GARD:5058"^^xsd:string, "OMIM:272150"^^xsd:string, "ORDO:498602"^^xsd:string ; oboInOwl:hasExactSynonym "brachydactyly with major proximal phalangeal shortening"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110979"^^xsd:string ; a owl:Class ; rdfs:label "Sugarman brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_0110980 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:213300"^^xsd:string ; oboInOwl:hasExactSynonym "CORS1"@en, "CPD4"@en, "JBTS1"@en, "cerebellooculorenal syndrome 1"@en, "cerebelloparenchymal disorder IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110980"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110981 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567582"^^xsd:string, "OMIM:300804"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110981"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110982 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614173"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110982"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110983 obo:IAO_0000115 "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614424"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110983"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110984 obo:IAO_0000115 "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614464"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110984"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110985 obo:IAO_0000115 "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614465"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110985"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110986 obo:IAO_0000115 "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614615"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110986"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110987 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614815"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110987"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110988 obo:IAO_0000115 "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10167"^^xsd:string, "MESH:C536294"^^xsd:string, "OMIM:608091"^^xsd:string ; oboInOwl:hasExactSynonym "CORS2"@en, "JBTS2"@en, "cerebellooculorenal syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110988"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110989 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614970"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110989"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110990 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615636"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110990"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110991 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615665"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110991"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110992 obo:IAO_0000115 "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616490"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110992"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110993 obo:IAO_0000115 "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616654"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110993"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110994 obo:IAO_0000115 "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616781"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110994"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110995 obo:IAO_0000115 "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616784"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110995"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110996 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617120"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110996"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110997 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617121"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110997"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110998 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536295"^^xsd:string, "OMIM:608629"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110998"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110999 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10169"^^xsd:string, "MESH:C536296"^^xsd:string, "OMIM:609583"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110999"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111000 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537688"^^xsd:string, "OMIM:610188"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111000"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111001 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537689"^^xsd:string, "OMIM:610688"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111001"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111002 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566916"^^xsd:string, "OMIM:611560"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111002"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111003 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567358"^^xsd:string, "OMIM:612291"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111003"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111004 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567364"^^xsd:string, "OMIM:612285"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111004"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111005 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6145"^^xsd:string, "OMIM:120970"^^xsd:string ; oboInOwl:hasExactSynonym "CORD2"@en, "CRD2"@en, "RCRD2"@en, "cone-rod retinal dystrophy 2"@en, "retinal cone-rod dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111005"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111006 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300085"^^xsd:string ; oboInOwl:hasExactSynonym "COD2"@en, "CORDX2"@en, "X-linked cone dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111006"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111007 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300476"^^xsd:string ; oboInOwl:hasExactSynonym "CORDX3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111007"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111008 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:304020"^^xsd:string ; oboInOwl:hasExactSynonym "COD1"@en, "CORDX1"@en, "X-linked cone dystrophy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111008"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111009 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10651"^^xsd:string, "OMIM:600624"^^xsd:string ; oboInOwl:hasExactSynonym "CORD1"@en, "CRD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111009"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111010 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600977"^^xsd:string ; oboInOwl:hasExactSynonym "CORD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111010"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111011 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10656"^^xsd:string, "OMIM:601777"^^xsd:string ; oboInOwl:hasExactSynonym "CORD6"@en, "RCD2"@en, "retinal cone dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111011"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111012 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603649"^^xsd:string ; oboInOwl:hasExactSynonym "CORD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111012"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111013 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10653"^^xsd:string, "OMIM:604116"^^xsd:string ; oboInOwl:hasExactSynonym "CORD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111013"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111014 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605549"^^xsd:string ; oboInOwl:hasExactSynonym "CORD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111014"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111015 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607476"^^xsd:string ; oboInOwl:hasExactSynonym "NFRCD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111015"^^xsd:string ; a owl:Class ; rdfs:label "Newfoundland cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111016 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608194"^^xsd:string ; oboInOwl:hasExactSynonym "CORD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111016"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111017 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610283"^^xsd:string ; oboInOwl:hasExactSynonym "CORD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111017"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111018 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610381"^^xsd:string ; oboInOwl:hasExactSynonym "CORD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111018"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111019 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612657"^^xsd:string ; oboInOwl:hasExactSynonym "CORD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111019"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111020 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612775"^^xsd:string ; oboInOwl:hasExactSynonym "CORD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111020"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111021 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613660"^^xsd:string ; oboInOwl:hasExactSynonym "CORD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111021"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111022 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614500"^^xsd:string ; oboInOwl:hasExactSynonym "CORD16"@en, "retinal dystrophy with early macular involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111022"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111023 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615163"^^xsd:string ; oboInOwl:hasExactSynonym "CORD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111023"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111024 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615374"^^xsd:string ; oboInOwl:hasExactSynonym "CORD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111024"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111025 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615860"^^xsd:string ; oboInOwl:hasExactSynonym "CORD19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111025"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111026 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615973"^^xsd:string ; oboInOwl:hasExactSynonym "CORD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111026"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111027 obo:IAO_0000115 "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602390"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111027"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111034, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111028 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10094"^^xsd:string, "MESH:C537249"^^xsd:string, "OMIM:606069"^^xsd:string, "ORDO:139491"^^xsd:string, "SNOMEDCT_US_2021_03_01:719975002"^^xsd:string, "UMLS_CUI:C1853733"^^xsd:string ; oboInOwl:hasExactSynonym "HFE4"@en, "autosomal dominant hereditary hemochromatosis"@en, "ferroportin disease"@en, "hemochromatosis due to defect in ferroportin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111028"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111029 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10417"^^xsd:string, "ICD10CM:E83.1"^^xsd:string, "OMIM:235200"^^xsd:string, "ORDO:465508"^^xsd:string ; oboInOwl:hasExactSynonym "HFE1"@en, "symptomatic form of HFE-related hereditary hemochromatosis"@en, "symptomatic form of classic hemochromatosis"@en, "symptomatic form of hemochromatosis type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111029"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111030 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10093"^^xsd:string, "MESH:C537248"^^xsd:string, "OMIM:604250"^^xsd:string, "ORDO:225123"^^xsd:string, "SNOMEDCT_US_2021_03_01:719974003"^^xsd:string, "UMLS_CUI:C1858664"^^xsd:string ; oboInOwl:hasExactSynonym "HFE3"@en, "TFR2-related hemochromatosis"@en, "hemochromatosis due to defect in transferrin receptor 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111030"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111031 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.1"^^xsd:string, "OMIM:615517"^^xsd:string, "ORDO:247790"^^xsd:string ; oboInOwl:hasExactSynonym "FTH1-associated iron overload"@en, "FTH1-related iron overload"@en, "HFE5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111031"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111032 obo:IAO_0000115 "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613313"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111032"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111034, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111033 obo:IAO_0000115 "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.1"^^xsd:string, "OMIM:601195"^^xsd:string, "ORDO:139507"^^xsd:string ; oboInOwl:hasExactSynonym "Bantu siderosis"@en, "iron overload in Africa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111033"^^xsd:string ; a owl:Class ; rdfs:label "African iron overload"^^xsd:string ; rdfs:subClassOf obo:DOID_2352 . obo:DOID_0111034 obo:IAO_0000115 "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:10092"^^xsd:string, "ICD10CM:E83.1"^^xsd:string, "MESH:C537247"^^xsd:string, "ORDO:79230"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2"@en, "JHH"@en, "juvenile hemochromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111034"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2352 . obo:DOID_0111035 obo:IAO_0000115 "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F01.1"^^xsd:string, "OMIM:125310"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111035"^^xsd:string ; a owl:Class ; rdfs:label "CADASIL 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13945, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; owl:disjointWith obo:DOID_0111036 . obo:DOID_0111036 obo:IAO_0000115 "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F01.1"^^xsd:string, "OMIM:616779"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111036"^^xsd:string ; a owl:Class ; rdfs:label "CADASIL 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13945, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111037 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10764"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:606664"^^xsd:string, "ORDO:289891"^^xsd:string ; oboInOwl:hasExactSynonym "GNMT deficiency"@en, "hypermethioninemia due to GNMT deficiency"@en, "hypermethioninemia due to glycine N-methyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111037"^^xsd:string ; a owl:Class ; rdfs:label "glycine N-methyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111038 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.1"^^xsd:string, "OMIM:614300"^^xsd:string, "ORDO:289290"^^xsd:string ; oboInOwl:hasExactSynonym "ADK hypermethioninemia"@en, "MRT8"@en, "autosomal recessive mental retardation 8"@en, "hypermethioninemia encephalopathy due to ADK deficiency"@en, "hypermethioninemia encephalopathy due to adenosine kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111038"^^xsd:string ; a owl:Class ; rdfs:label "hypermethioninemia due to adenosine kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111039 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:13177"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:613752"^^xsd:string, "ORDO:88618"^^xsd:string ; oboInOwl:hasExactSynonym "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"@en, "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111039"^^xsd:string ; a owl:Class ; rdfs:label "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111040 obo:IAO_0000115 "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:300559"^^xsd:string, "ORDO:715"^^xsd:string ; oboInOwl:hasExactSynonym "GSD IXd"@en, "GSD due to muscle phosphorylase kinase deficiency"@en, "GSD type 9D"@en, "GSD type 9E"@en, "GSD type IXd"@en, "GSD type IXe"@en, "GSD9D"@en, "X-linked muscke glycogenosis"@en, "glycogen storage disease due to muscle phosphorylase kinase deficiency"@en, "glycogen storage disease type 9D"@en, "glycogen storage disease type 9E"@en, "glycogen storage disease type IXd"@en, "glycogen storage disease type IXe"@en, "glycogenosis due to muscle phosphorylase kinase deficiency"@en, "glycogenosis type 9D"@en, "glycogenosis type 9E"@en, "glycogenosis type IXd"@en, "glycogenosis type IXe"@en, "muscle phosphorylase kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111040"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXd"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111041 obo:IAO_0000115 "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:261750"^^xsd:string, "ORDO:79240"^^xsd:string ; oboInOwl:hasExactSynonym "GSD IXb"@en, "GSD due to liver and muscle phosphorylase kinase deficiency"@en, "GSD type 9B"@en, "GSD type IXb"@en, "GSD9B"@en, "glycogen storage disease type 9B"@en, "glycogen storage disease type IXb"@en, "glycogenosis due to liver and muscle phosphorylase kinase deficiency"@en, "glycogenosis type 9B"@en, "glycogenosis type IXb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111041"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXb"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111042 obo:IAO_0000115 "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:306000"^^xsd:string ; oboInOwl:hasExactSynonym "GSD type 9A"@en, "GSD type IXa"@en, "GSD9A"@en, "glycogen storage disease type 9A"@en, "glycogen storage disease type IXa"@en, "glycogenosis type 9A"@en, "glycogenosis type IXa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111042"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] . obo:DOID_0111043 obo:IAO_0000115 "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:613027"^^xsd:string ; oboInOwl:hasExactSynonym "GSD type 9C"@en, "GSD type IXc"@en, "GSD9C"@en, "glycogen storage disease type 9C"@en, "glycogen storage disease type IXc"@en, "glycogenosis type 9C"@en, "glycogenosis type IXc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111043"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111044 obo:IAO_0000115 "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2562"^^xsd:string, "ICD10CM:D69.1"^^xsd:string, "MESH:D055652"^^xsd:string, "NCI:C84741"^^xsd:string, "OMIM:139090"^^xsd:string, "ORDO:721"^^xsd:string, "SNOMEDCT_US_2021_03_01:51720005"^^xsd:string, "UMLS_CUI:C0272302"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT4"@en, "GPS"@en, "platelet alpha-granule deficiency"@en, "platelet-type bleeding disorder 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gray platelet syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111045 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:614200"^^xsd:string, "ORDO:98886"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT9"@en, "GP Ia deficiency"@en, "collagen platelet receptor deficiency"@en, "glycoprotein Ia deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111045"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111046 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608404"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT10"@en, "CD36 deficiency"@en, "platelet glycoprotein IV deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111046"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111047 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614158"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT14"@en, "thromboxane synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111047"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111048 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:616176"^^xsd:string, "ORDO:438207"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT19"@en, "severe autosomal recessive macrothrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111048"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111049 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "MESH:D055652"^^xsd:string, "NCI:C84741"^^xsd:string, "OMIM:187900"^^xsd:string, "SNOMEDCT_US_2021_03_01:51720005"^^xsd:string, "UMLS_CUI:C0272302"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT17"@en, "hereditary thrombasthenia-thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111050 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8345"^^xsd:string, "MESH:C536260"^^xsd:string, "OMIM:601709"^^xsd:string, "ORDO:220436"^^xsd:string, "UMLS_CUI:C1866423"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT5"@en, "factor V Quebec"@en, "platelet-type bleeding disorder 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111050"^^xsd:string ; a owl:Class ; rdfs:label "Quebec platelet disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111051 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "OMIM:615888"^^xsd:string, "ORDO:420566"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT18"@en, "bleeding disorder due to CalDAG-GEFI deficiency"@en, "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111051"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111052 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4777"^^xsd:string, "MESH:C563120"^^xsd:string, "OMIM:262890"^^xsd:string, "ORDO:806"^^xsd:string, "SNOMEDCT_US_2021_03_01:128098009"^^xsd:string, "UMLS_CUI:C0796149"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT7"@en, "SCTS"@en, "bleeding abnormality due to deficiency of platelet biding of factor X"@en, "familial prothrombin consumption inhibitor"@en, "familial prothrombin conversion defect"@en, "platelet-type bleeding disorder 7"@en, "prothrombin consumption deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111052"^^xsd:string ; a owl:Class ; rdfs:label "Scott syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 . obo:DOID_0111053 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615193"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT15"@en, "autosomal dominant macrothrombocytopenia ACTN1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111053"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111054 obo:IAO_0000115 "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056729"^^xsd:string, "NCI:C85213"^^xsd:string, "OMIM:277480"^^xsd:string, "ORDO:166096"^^xsd:string, "SNOMEDCT_US_2021_03_01:128108002"^^xsd:string, "UMLS_CUI:C1264041"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 3"@en, "VWD3"@en, "von Willebrand disease type 3"@en, "von Willebrand disease type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "von Willebrand's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_12531, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111055 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616913"^^xsd:string, "ORDO:466806"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT20"@en, "autosomal dominant thrombocytopenia with platelet secretion defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111055"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111056 obo:IAO_0000115 "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:177820"^^xsd:string, "ORDO:52530"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT3"@en, "PT-VWD"@en, "platelet type-von Willebrand disease"@en, "pseudo-von Willebrand disease"@en, "von Willebrand disease platelet-type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111056"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111057 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:614201"^^xsd:string, "ORDO:98885"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT11"@en, "GP VI deficiency"@en, "glycoprotein VI deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111057"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111058 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605735"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT12"@en, "PGHS1 deficiency"@en, "platelet COX1 deficiency"@en, "platelet cyclooxygenase 1 deficiency"@en, "platelet prostaglandin-endoperoxide synthase 1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111058"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111059 obo:IAO_0000115 "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153670"^^xsd:string ; oboInOwl:hasExactSynonym "BSSA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111059"^^xsd:string ; a owl:Class ; rdfs:label "Bernard-Soulier syndrome type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_2217, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111060 obo:IAO_0000115 "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8206"^^xsd:string, "ICD10CM:Q84.2"^^xsd:string, "MESH:C536605"^^xsd:string, "OMIM:145701"^^xsd:string, "ORDO:1023"^^xsd:string ; oboInOwl:hasExactSynonym "Ambras syndrome"@en, "HTC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111060"^^xsd:string ; a owl:Class ; rdfs:label "Ambras type hypertrichosis universalis congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_420 . obo:DOID_0111061 obo:IAO_0000115 "A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605019"^^xsd:string ; oboInOwl:hasExactSynonym "FHBL2"@en, "combined familial hypolipidemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111061"^^xsd:string ; a owl:Class ; rdfs:label "familial hypobetalipoproteinemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1390 ; owl:disjointWith obo:DOID_0111062 . obo:DOID_0111062 obo:IAO_0000115 "A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615558"^^xsd:string ; oboInOwl:hasExactSynonym "FHBL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111062"^^xsd:string ; a owl:Class ; rdfs:label "familial hypobetalipoproteinemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1390 . obo:DOID_0111063 obo:IAO_0000115 "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10879"^^xsd:string, "ICD10CM:M11.2"^^xsd:string, "OMIM:211900"^^xsd:string, "ORDO:306661"^^xsd:string ; oboInOwl:hasExactSynonym "HFTC"@en, "HHS"@en, "PHPTC"@en, "cortical hyperostosis with hyperphosphatemia"@en, "familial Teutschlaender disease"@en, "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"@en, "hypercalcemic tumoral calcinosis"@en, "hyperostosis with hyperphosphatemia"@en, "hyperphosphatemia hyperostosis"@en, "hyperphosphatemia hyperostosis syndrome"@en, "hyperphosphatemia tumoral calcinosis"@en, "lipocalcinogranulomatosis"@en, "morbus Teutschlaender"@en, "primary hyperphosphatemic tumoral calcinosis"@en, "tumoral calcinosis with hyperphosphatemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111063"^^xsd:string ; a owl:Class ; rdfs:label "hyperphosphatemic familial tumoral calcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_182, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111064 obo:IAO_0000115 "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.2"^^xsd:string, "OMIM:604320"^^xsd:string, "ORDO:98920"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA1"@en, "SIANRF"@en, "SMARD1"@en, "autosomal recessive distal spinal muscular atrophy 1"@en, "autosomal recessive spinal muscular atrophy with respiratory distress"@en, "dHMN6"@en, "diaphragmatic spinal muscular atrophy"@en, "distal hereditary motor neuropathy type 6"@en, "distal-HMN type 6"@en, "severe infantile axonal neuropathy with respiratory failure type 1"@en, "spinal muscular atrophy with respiratory distress type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111064"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111065 obo:IAO_0000115 "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10133"^^xsd:string, "MESH:C535715"^^xsd:string, "OMIM:605726"^^xsd:string, "ORDO:139552"^^xsd:string, "SNOMEDCT_US_2021_03_01:763533003"^^xsd:string, "UMLS_CUI:C1854023"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA2"@en, "autosomal recessive distal spinal muscular atrophy 2"@en, "dHMNJ"@en, "distal hereditary motor neuropathy Jerash type"@en, "spinal muscular atrophy Jerash type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111065"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111066 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616278"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111066"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111067 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617308"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111067"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111068 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535444"^^xsd:string, "OMIM:214950"^^xsd:string, "ORDO:79095"^^xsd:string, "UMLS_CUI:C1858328"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS4"@en, "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid"@en, "trihydroxycoprostanic acid in bile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111068"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111069 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535443"^^xsd:string, "OMIM:235555"^^xsd:string, "ORDO:79303"^^xsd:string, "UMLS_CUI:C1856127"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS2"@en, "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111069"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111070 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566340"^^xsd:string, "OMIM:613812"^^xsd:string, "ORDO:79302"^^xsd:string, "UMLS_CUI:C3151147"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS3"@en, "oxysterol 7-alpha-hydroxylase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111070"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111071 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535442"^^xsd:string, "OMIM:607765"^^xsd:string, "ORDO:79301"^^xsd:string, "UMLS_CUI:C1843116"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111071"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111072 obo:IAO_0000115 "A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10238"^^xsd:string, "MESH:C536106"^^xsd:string, "OMIM:614160"^^xsd:string, "ORDO:275534"^^xsd:string, "SNOMEDCT_US_2021_03_01:699185005"^^xsd:string, "UMLS_CUI:C2931112"^^xsd:string ; oboInOwl:hasExactSynonym "MSLHP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111072"^^xsd:string ; a owl:Class ; rdfs:label "myostatin-related muscle hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0111073 obo:IAO_0000115 "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS113900"^^xsd:string, "ORDO:871"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB"@en, "familial Lenegre disease"@en, "familial Lev disease"@en, "familial Lev-Lenegre disease"@en, "familial PCCD"@en, "familial progressive heart block"@en, "hereditary bundle branch defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111073"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_0111074 obo:IAO_0000115 "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113900"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111074"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111075 obo:IAO_0000115 "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:140400"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111075"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000823 ] . obo:DOID_0111076 obo:IAO_0000115 "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604559"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111076"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111077 obo:IAO_0000115 "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:7514"^^xsd:string, "OMIM:266200"^^xsd:string, "ORDO:766"^^xsd:string ; oboInOwl:hasExactSynonym "PK deficiency"@en, "hemolytic anemia due to red cell pyruvate kinase deficiency"@en, "pyruvate kinase deficiency of erythrocyte"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111077"^^xsd:string ; a owl:Class ; rdfs:label "pyruvate kinase deficiency of red cells"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2861, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111078 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "MESH:D049310"^^xsd:string, "OMIM:600334"^^xsd:string, "ORDO:609"^^xsd:string, "SNOMEDCT_US_2021_03_01:698846009"^^xsd:string, "UMLS_CUI:C1838244"^^xsd:string ; oboInOwl:hasExactSynonym "Finnish tibial muscular dystrophy"@en, "TMD"@en, "Tardive tibial muscular dystrophy"@en, "Udd myopathy"@en, "Udd type distal myopathy"@en, "distal titinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111078"^^xsd:string ; a owl:Class ; rdfs:label "tibial muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111079 obo:IAO_0000115 "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia."^^xsd:string ; oboInOwl:hasDbXref "GARD:5926"^^xsd:string, "MESH:D000080365"^^xsd:string, "OMIM:605808"^^xsd:string, "ORDO:179"^^xsd:string, "SNOMEDCT_US_2021_03_01:231981005"^^xsd:string, "UMLS_CUI:C1853959"^^xsd:string ; oboInOwl:hasExactSynonym "BSCR"@en, "birdshot chorioretinitis"@en, "birdshot retinochoroiditis"@en, "birdshot retinochoroidopathy"@en, "vitiliginous choroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111079"^^xsd:string ; a owl:Class ; rdfs:label "birdshot chorioretinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12574 . obo:DOID_0111080 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617243"^^xsd:string ; oboInOwl:hasExactSynonym "FANCV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111080"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111081 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616435"^^xsd:string ; oboInOwl:hasExactSynonym "FANCT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111081"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group T"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111082 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614083"^^xsd:string ; oboInOwl:hasExactSynonym "FANCL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111082"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111083 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227646"^^xsd:string ; oboInOwl:hasExactSynonym "FA4"@en, "FAD2"@en, "FANCD2"@en, "Fanconi pancytopenia type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111083"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group D2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111084 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600901"^^xsd:string ; oboInOwl:hasExactSynonym "FACE"@en, "FANCE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111084"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111085 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617247"^^xsd:string ; oboInOwl:hasExactSynonym "FANCU"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111085"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111086 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614082"^^xsd:string ; oboInOwl:hasExactSynonym "FANCG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111086"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111087 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227645"^^xsd:string ; oboInOwl:hasExactSynonym "FA3"@en, "FACC"@en, "FANCC"@en, "Fanconi pancytopenia type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111087"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111088 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603467"^^xsd:string ; oboInOwl:hasExactSynonym "FANCF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111088"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111089 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605724"^^xsd:string ; oboInOwl:hasExactSynonym "FAD1"@en, "FANCD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111089"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group D1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111090 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617244"^^xsd:string ; oboInOwl:hasExactSynonym "FANCR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111090"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111091 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609053"^^xsd:string ; oboInOwl:hasExactSynonym "FANCI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111091"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111092 obo:IAO_0000115 "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613951"^^xsd:string ; oboInOwl:hasExactSynonym "FANCP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111092"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group P"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111093 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615272"^^xsd:string ; oboInOwl:hasExactSynonym "FANCQ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111093"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111094 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610832"^^xsd:string ; oboInOwl:hasExactSynonym "FANCN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111094"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group N"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111095 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227650"^^xsd:string ; oboInOwl:hasExactSynonym "FANCA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111095"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111096 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613390"^^xsd:string ; oboInOwl:hasExactSynonym "FANCO"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111096"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111097 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609054"^^xsd:string ; oboInOwl:hasExactSynonym "FANCJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111097"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111098 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300514"^^xsd:string ; oboInOwl:hasExactSynonym "FACB"@en, "FANCB"@en, "Fanconi pancytopenia type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111098"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group B"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111099 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20."^^xsd:string ; oboInOwl:hasDbXref "OMIM:125850"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetes Mellitus Type 2"@en, "MODY type 1"@en, "MODY1"@en, "mild juvenile diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111099"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111100 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:125851"^^xsd:string ; oboInOwl:hasExactSynonym "MODY glucokinase-related"@en, "MODY type 2"@en, "MODY2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111100"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111101 obo:IAO_0000115 "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137920"^^xsd:string ; oboInOwl:hasExactSynonym "CAKUT with diabetes"@en, "MODY5"@en, "RCAD"@en, "atypical FJHN"@en, "atypical familial juvenile hyperuricemic nephropathy"@en, "congenital anomalies of the kidney and urinary tract with diabetes"@en, "familial hypoplastic glomerulocystic kidney"@en, "hypoplastic type glomerulocystic kidney disease"@en, "renal cysts and diabetes syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111101"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111102 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600496"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 3"@en, "MODY3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111102"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111103 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606392"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 4"@en, "MODY4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111103"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111104 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606394"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 6"@en, "MODY6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111104"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111105 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609812"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 8"@en, "MODY8"@en, "diabetes and pancreatic exocrine"@en, "maturity-onset diabetes of the young type 8 with exocrine dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111105"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524 . obo:DOID_0111106 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610508"^^xsd:string ; oboInOwl:hasExactSynonym "MODY7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111106"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111107 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612225"^^xsd:string ; oboInOwl:hasExactSynonym "MODY9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111107"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111108 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613370"^^xsd:string ; oboInOwl:hasExactSynonym "MODY10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111108"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111109 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613375"^^xsd:string ; oboInOwl:hasExactSynonym "MODY11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111109"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111110 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616329"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 13"@en, "MODY13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111110"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111111 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616511"^^xsd:string ; oboInOwl:hasExactSynonym "MODY14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111111"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111112 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256100"^^xsd:string ; oboInOwl:hasExactSynonym "NPH1"@en, "NPHP1"@en, "juvenile nephronophthisis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111112"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111113 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602088"^^xsd:string ; oboInOwl:hasExactSynonym "NPH2"@en, "NPHP2"@en, "infantile nephronophthisis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111113"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111114 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604387"^^xsd:string ; oboInOwl:hasExactSynonym "NPH3"@en, "NPHP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111114"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111115 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606966"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP4"@en, "juvenile nephronophthisis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111115"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111116 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611498"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111116"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111117 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613159"^^xsd:string ; oboInOwl:hasExactSynonym "NPHPL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111117"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis-like nephropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111118 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613550"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111118"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111119 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613820"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111119"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111120 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613824"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111120"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111121 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614377"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111121"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111122 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614844"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111122"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111123 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614845"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111123"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111124 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615382"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111124"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 16"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111125 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615862"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111125"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 18"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111126 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616217"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111126"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 19"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111127 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617271"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111127"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 20"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111128 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:603278"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111128"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111129 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:603965"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111129"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111130 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:613237"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111130"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111131 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:614131"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111131"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111132 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616002"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111132"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111133 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616032"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111133"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111134 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616220"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111134"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111135 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:84"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:608594"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip Congenital Lipodystrophy, Type 1"@en, "Brunzell syndrome AGPAT2-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111135"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111136 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10212"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:269700"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 2"@en, "Berardinelli-Seip syndrome"@en, "Brunzell syndrome BSCL2-related"@en, "CGL2"@en, "congenital lipoatrophic diabetes"@en, "total lipodystrophy and acromegaloid gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111136"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111137 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.1"^^xsd:string, "OMIM:612526"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111137"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111138 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10937"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:613327"^^xsd:string, "ORDO:228429"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy"@en, "congenital generalised lipodystrophy type 4"@en, "generalised congenital lipodystrophy type 4"@en, "generalised congenital lipodystrophy with myopathy"@en, "generalized congenital lipodystrophy type 4"@en, "generalized congenital lipodystrophy with myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111138"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111139 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III."^^xsd:string ; oboInOwl:hasDbXref "GARD:8295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111139"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0111140 obo:IAO_0000115 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:300888"^^xsd:string, "ORDO:329235"^^xsd:string ; oboInOwl:hasExactSynonym "CHTE"@en, "X-linked central congenital hypothyroidism with late-onset macroorchidism"@en, "X-linked central congenital hypothyroidism with late-onset testicular enlargement"@en, "central hypothyroidism and testicular enlargement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111140"^^xsd:string ; a owl:Class ; rdfs:label "IGSF1 deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111141 obo:IAO_0000115 "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time."^^xsd:string ; oboInOwl:hasExactSynonym "DSPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111141"^^xsd:string ; a owl:Class ; rdfs:label "delayed sleep phase syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_0111142 obo:IAO_0000115 "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons."^^xsd:string ; oboInOwl:hasDbXref "GARD:4066"^^xsd:string, "ICD10CM:Q60.4"^^xsd:string, "ORDO:2260"^^xsd:string ; oboInOwl:hasExactSynonym "Oligomeganephronic renal hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111142"^^xsd:string ; a owl:Class ; rdfs:label "oligomeganephronia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080204 . obo:DOID_0111143 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex."^^xsd:string ; oboInOwl:hasDbXref "ORDO:254913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111143"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0111144 obo:IAO_0000115 "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610504"^^xsd:string ; oboInOwl:hasExactSynonym "PPROM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111144"^^xsd:string ; a owl:Class ; rdfs:label "preterm premature rupture of the membranes"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_0111145 obo:IAO_0000115 "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111145"^^xsd:string ; a owl:Class ; rdfs:label "ureteropelvic junction obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_5200 . obo:DOID_0111146 obo:IAO_0000115 "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders."^^xsd:string ; oboInOwl:hasDbXref "GARD:5573"^^xsd:string, "MEDDRA:10069495"^^xsd:string, "ORDO:99147"^^xsd:string, "SNOMEDCT_US_2021_03_01:234451005"^^xsd:string, "UMLS_CUI:C0272362"^^xsd:string ; oboInOwl:hasExactSynonym "AVWS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111146"^^xsd:string ; a owl:Class ; rdfs:label "acquired von Willebrand syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111147 obo:IAO_0000115 "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:11973"^^xsd:string, "ICD10CM:C86.5"^^xsd:string, "MEDDRA:10002449"^^xsd:string, "MESH:D007119"^^xsd:string, "NCI:C7528"^^xsd:string, "ORDO:86886"^^xsd:string, "SNOMEDCT_US_2021_03_01:52097008"^^xsd:string, "UMLS_CUI:C0020981"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111147"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angioimmunoblastic T-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0111148 obo:IAO_0000115 "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.1"^^xsd:string, "ICD9CM:743.37"^^xsd:string, "MESH:C536184"^^xsd:string, "MESH:D004479"^^xsd:string, "NCI:C125484"^^xsd:string, "ORDO:1885"^^xsd:string, "SNOMEDCT_US_2021_03_01:231976001"^^xsd:string, "UMLS_CUI:C0013581"^^xsd:string, "UMLS_CUI:C2746069"^^xsd:string ; oboInOwl:hasExactSynonym "IEL"@en, "familial ectopia lentis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "isolated ectopia lentis"^^xsd:string ; rdfs:subClassOf obo:DOID_110 . obo:DOID_0111149 obo:IAO_0000115 "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225100"^^xsd:string ; oboInOwl:hasExactSynonym "ECTOL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111149"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive isolated ectopia lentis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111148, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111150 obo:IAO_0000115 "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:129600"^^xsd:string, "UMLS_CUI:C1851286"^^xsd:string ; oboInOwl:hasExactSynonym "ECTOL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111150"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant isolated ectopia lentis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111148, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111151 obo:IAO_0000115 "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000788"^^xsd:string ; oboInOwl:hasExactSynonym "Prinzmetal's angina"@en, "Prinzmetal's variant angina"@en, "angina inversa"@en, "variant angina"@en, "variant angina pectoris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111151"^^xsd:string ; a owl:Class ; rdfs:label "Prinzmetal angina"^^xsd:string ; rdfs:subClassOf obo:DOID_11840 . obo:DOID_0111152 obo:IAO_0000115 "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6."^^xsd:string ; oboInOwl:hasDbXref "GARD:9644"^^xsd:string, "MESH:C537372"^^xsd:string, "NCI:C27855"^^xsd:string, "ORDO:93686"^^xsd:string, "UMLS_CUI:C1334815"^^xsd:string ; oboInOwl:hasExactSynonym "MCD"@en, "PMCD"@en, "multicentric giant lymph node hyperplasia"@en, "plasmablastic multicentric Castleman disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111152"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multicentric Castleman disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0111157 . obo:DOID_0111153 obo:IAO_0000115 "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs."^^xsd:string ; oboInOwl:hasDbXref "ORDO:238722"^^xsd:string ; oboInOwl:hasExactSynonym "familial congenital controlateral synkinesia"@en, "familial congenital mirror movements"@en, "hereditary congenital controlateral synkinesia"@en, "hereditary congenital mirror movements"@en, "isolated congenital controlateral synkinesia"@en, "isolated congenital mirror movements"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111153"^^xsd:string ; a owl:Class ; rdfs:label "congenital mirror movement disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111154 obo:IAO_0000115 "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9597"^^xsd:string, "ICD10CM:I95.1"^^xsd:string, "MESH:D054972"^^xsd:string, "OMIM:604715"^^xsd:string, "ORDO:443236"^^xsd:string ; oboInOwl:hasExactSynonym "familial orthostatic tachycardia due to norepinephrine transporter deficiency"@en, "irritable heart"@en, "mitral valve prolapse syndrome"@en, "neurocirculatory asthenia"@en, "orhtostatic intolerance"@en, "orthostatic intolerance due to NET deficiency"@en, "postural tachycardia syndrome due to NET deficiency"@en, "soldiers heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111154"^^xsd:string ; a owl:Class ; rdfs:label "postural orthostatic tachycardia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111155 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616719"^^xsd:string, "ORDO:466794"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR21"@en, "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"@en, "autosomal recessive spinocerebellar ataxia 21 with hepatopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111155"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111156 obo:IAO_0000115 "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070175"^^xsd:string ; oboInOwl:hasDbXref "GARD:12502"^^xsd:string, "OMIM:613958"^^xsd:string, "ORDO:171709"^^xsd:string ; oboInOwl:hasExactSynonym "globozoospermia"@en, "male infertility due to globozoospermia"@en, "male infertility due to round-headed spermatozoa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111156"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111157 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically."^^xsd:string ; oboInOwl:hasDbXref "GARD:12656"^^xsd:string, "ICD10CM:D47.Z2"^^xsd:string, "MESH:C536362"^^xsd:string, "MESH:D005871"^^xsd:string, "NCI:C3056"^^xsd:string, "ORDO:160"^^xsd:string, "SNOMEDCT_US_2021_03_01:207036003"^^xsd:string, "UMLS_CUI:C0017531"^^xsd:string, "UMLS_CUI:C2931179"^^xsd:string ; oboInOwl:hasExactSynonym "angiofollicular lymph hyperplasia"@en, "angiofollicular lymph node hyperplasia"@en, "giant lymph node hyperplasia"@en, "lymphoid hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Castleman disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704 . obo:DOID_0111158 obo:IAO_0000115 "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "GARD:9443"^^xsd:string, "MESH:D000130"^^xsd:string, "OMIM:616482"^^xsd:string, "ORDO:85165"^^xsd:string, "SNOMEDCT_US_2021_03_01:699870002"^^xsd:string, "UMLS_CUI:C2674173"^^xsd:string ; oboInOwl:hasExactSynonym "SADDAN dysplasia"@en, "severe achondroplasia with developmental delay and acanthosis nigricans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111158"^^xsd:string ; a owl:Class ; rdfs:label "SADDAN"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111159 obo:IAO_0000115 "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q."^^xsd:string ; oboInOwl:hasExactSynonym "Chromosome 4, Partial Trisomy 4q"@en, "Distal 4q Trisomy"@en, "Dup(4q) Syndrome, Partial"@en, "Duplication 4q Syndrome, Partial"@en, "Partial Trisomy 4q Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111159"^^xsd:string ; a owl:Class ; rdfs:label "partial trisomy distal 4q"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0111160 obo:IAO_0000115 "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537975"^^xsd:string, "OMIM:610474"^^xsd:string, "ORDO:85164"^^xsd:string, "UMLS_CUI:C1864852"^^xsd:string ; oboInOwl:hasExactSynonym "CATSHL syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111160"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "camptodactyly-tall stature-scoliosis-hearing loss syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111161 obo:IAO_0000115 "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612247"^^xsd:string, "ORDO:93262"^^xsd:string ; oboInOwl:hasExactSynonym "CAN"@en, "Crouzon-dermoskeletal syndrome"@en, "Crouzonodermoskeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111161"^^xsd:string ; a owl:Class ; rdfs:label "Crouzon syndrome-acanthosis nigricans syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080001, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004766 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111162 obo:IAO_0000115 "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050532"^^xsd:string ; oboInOwl:hasDbXref "OMIM:162900"^^xsd:string ; oboInOwl:hasExactSynonym "nonepidermolytic keratinocytic nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111162"^^xsd:string ; a owl:Class ; rdfs:label "epidermal nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0111163 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565373"^^xsd:string, "OMIM:252160"^^xsd:string, "ORDO:308393"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003368009"^^xsd:string, "UMLS_CUI:C1854989"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type B"@en, "MOCODB"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B"@en, "molybdenum cofactor deficiency complementation group B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111163"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111164 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565372"^^xsd:string, "OMIM:252150"^^xsd:string, "ORDO:308386"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003367004"^^xsd:string, "UMLS_CUI:C1854988"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type A"@en, "MOCODA"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"@en, "molybdenum cofactor deficiency complementation group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111164"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111165 obo:IAO_0000115 "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage."^^xsd:string ; oboInOwl:hasDbXref "GARD:3705"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:PS252150"^^xsd:string, "ORDO:99732"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111165"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0111166 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565374"^^xsd:string, "OMIM:615501"^^xsd:string, "ORDO:308400"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003387003"^^xsd:string, "UMLS_CUI:C1854990"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type C"@en, "MOCODC"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C"@en, "molybdenum cofactor deficiency complementation group C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111166"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type C"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111167 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:6295"^^xsd:string, "OMIM:223800"^^xsd:string ; oboInOwl:hasExactSynonym "DMC disease"@en, "pseudo-Morquio disease type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111167"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Dyggve-Melchior-Clausen disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0111168 obo:IAO_0000115 "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:10365"^^xsd:string, "MESH:C562657"^^xsd:string, "OMIM:612716"^^xsd:string, "ORDO:70594"^^xsd:string, "SNOMEDCT_US_2021_03_01:45116002"^^xsd:string, "UMLS_CUI:C0268468"^^xsd:string ; oboInOwl:hasExactSynonym "DRD due to SRD"@en, "SPR deficiency"@en, "SRD"@en, "dopa-responsive dystonia due to sepiapterin reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111168"^^xsd:string ; a owl:Class ; rdfs:label "sepiapterin reductase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111169 obo:IAO_0000115 "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054221"^^xsd:string, "NCI:C116933"^^xsd:string, "OMIM:600348"^^xsd:string, "ORDO:99796"^^xsd:string, "UMLS_CUI:C1848201"^^xsd:string ; oboInOwl:hasExactSynonym "HeCo"@en, "band heterotopia"@en, "double cortex syndrome"@en, "heterotopic cortex"@en, "subcortical laminar heterotopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subcortical band heterotopia"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 . obo:DOID_0111170 obo:IAO_0000115 "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608984"^^xsd:string ; oboInOwl:hasExactSynonym "ADSA"@en, "SNAX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111170"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant sensory ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050951, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111180 obo:IAO_0000115 "A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:8370"^^xsd:string, "MESH:C537004"^^xsd:string, "OMIM:220111"^^xsd:string, "ORDO:70472"^^xsd:string, "SNOMEDCT_US_2021_03_01:718219002"^^xsd:string, "UMLS_CUI:C1857355"^^xsd:string ; oboInOwl:hasExactSynonym "French Canadian type COX deficiency"@en, "French Canadian type Leigh syndrome"@en, "French Canadian type cytochrome c oxidase deficiency"@en, "Saguenay Lac saint Jean type COX deficiency"@en, "Saguenay Lac saint Jean type Leigh syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111180"^^xsd:string ; a owl:Class ; rdfs:label "French Canadian Leigh disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3652 . obo:DOID_0111181 obo:IAO_0000115 "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2638"^^xsd:string, "OMIM:141500"^^xsd:string ; oboInOwl:hasExactSynonym "FHM1"@en, "MHP1"@en, "familial hemiplegic migraine1 with progressive cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111181"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111182 obo:IAO_0000115 "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10095"^^xsd:string, "OMIM:602481"^^xsd:string ; oboInOwl:hasExactSynonym "FHM2"@en, "Familial hemiplegic migraine-2"@en, "MHP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111182"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111183 obo:IAO_0000115 "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10974"^^xsd:string, "OMIM:609634"^^xsd:string ; oboInOwl:hasExactSynonym "FHM3"@en, "MHP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111183"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111184 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500011"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111184"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111185 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600462"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111185"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111186 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613561"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111186"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111187 obo:IAO_0000115 "A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606768"^^xsd:string, "ORDO:178400"^^xsd:string ; oboInOwl:hasExactSynonym "DMAT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111187"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy with anterior tibial onset"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111188 obo:IAO_0000115 "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:12591"^^xsd:string, "OMIM:603689"^^xsd:string, "ORDO:178464"^^xsd:string ; oboInOwl:hasExactSynonym "Edstrom myopathy"@en, "HIBM-ERF"@en, "HMERF"@en, "Hereditary inclusion body myopathy with early respiratory failure"@en, "MFM-titinopathy"@en, "MFM9"@en, "MPRM"@en, "Myofibrillar myopathy-titinopathy"@en, "autosomal dominant distal myopathy with early respiratory failure"@en, "hereditary myopathy with early respiratory failure"@en, "myofibrillar myopathy 9 with early respiratory failure"@en, "proximal myopathy with early respiratory muscle involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111188"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111189 obo:IAO_0000115 "A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610099"^^xsd:string, "ORDO:399086"^^xsd:string ; oboInOwl:hasExactSynonym "MPD3"@en, "distal myopathy 3"@en, "distal myopathy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111189"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111190 obo:IAO_0000115 "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614065"^^xsd:string, "ORDO:63273"^^xsd:string ; oboInOwl:hasExactSynonym "MPD4"@en, "distal ABD-filaminopathy"@en, "distal myopathy 4"@en, "distal myopathy with posterior leg and anterior hand involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111190"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111191 obo:IAO_0000115 "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614321"^^xsd:string, "ORDO:488650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111191"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy Tateyama type"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111192 obo:IAO_0000115 "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158900"^^xsd:string ; oboInOwl:hasExactSynonym "FSHD1"@en, "facioscapulohumeral muscular dystrophy type 1"@en, "facioscapulohumeral muscular dystrophy type 1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111192"^^xsd:string ; a owl:Class ; rdfs:label "facioscapulohumeral muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11727 . obo:DOID_0111193 obo:IAO_0000115 "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158901"^^xsd:string ; oboInOwl:hasExactSynonym "FSHD2"@en, "facioscapulohumeral muscular dystrophy 1B"@en, "facioscapulohumeral muscular dystrophy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111193"^^xsd:string ; a owl:Class ; rdfs:label "facioscapulohumeral muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_11727, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0111194 obo:IAO_0000115 "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:182980"^^xsd:string, "ORDO:209335"^^xsd:string ; oboInOwl:hasExactSynonym "Finkel disease"@en, "Finkel late-adult type SMA"@en, "SMAFK"@en, "autosomal dominant adult proximal spinal muscular atrophy"@en, "autosomal dominant adult-onset proximal SMA"@en, "autosomal dominant late-onset spinal muscular atrophy, Finkel type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111194"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant adult-onset proximal spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111195 obo:IAO_0000115 "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:133200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111195"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111196 obo:IAO_0000115 "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564506"^^xsd:string, "OMIM:300489"^^xsd:string, "ORDO:139557"^^xsd:string, "UMLS_CUI:C1845359"^^xsd:string ; oboInOwl:hasExactSynonym "ATP7A-related distal motor neuropathy"@en, "DSMAX"@en, "SMAX3"@en, "X-linked dHMN3"@en, "X-linked dSMA3"@en, "X-linked distal hereditary motor neuropathy type 3"@en, "X-linked recessive distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111196"^^xsd:string ; a owl:Class ; rdfs:label "X-linked distal spinal muscular atrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111197 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:140468"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111197"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive distal hereditary motor neuronopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111198 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:140465"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant dHMN"@en, "autosomal dominant distal hereditary motor neuropathy"@en, "autosomal dominant distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111198"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant distal hereditary motor neuronopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111199 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis."^^xsd:string ; oboInOwl:hasDbXref "ORDO:139589"^^xsd:string ; oboInOwl:hasExactSynonym "DHMNVPy"@en, "dHMN7"@en, "distal spinal muscular atrophy with vocal cord paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111199"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111200 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566675"^^xsd:string, "NCI:C132826"^^xsd:string, "OMIM:182960"^^xsd:string, "ORDO:139518"^^xsd:string, "UMLS_CUI:C1866784"^^xsd:string ; oboInOwl:hasExactSynonym "HMN I"@en, "autosomal dominant distal juvenile spinal muscular atrophy type 1"@en, "dHMN1"@en, "distal hereditary motor neuropathy type I"@en, "spinal Charcot-Marie-Tooth disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111200"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111201 obo:IAO_0000115 "A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158580"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN7A"@en, "HMN VIIA"@en, "HMN7A"@en, "Harper-Young myopath"@en, "distal hereditary motor neuropathy type VIIA"@en, "distal spinal muscular atrophy with vocal cord paralysis type 7A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111201"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111199, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111202 obo:IAO_0000115 "A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607641"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN7B"@en, "HMN VIIB"@en, "HMN7B"@en, "Harper-Young myopathy"@en, "distal hereditary motor neuropathy type VIIB"@en, "distal spinal muscular atrophy with vocal cord paralysis type 7B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111202"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111199 . obo:DOID_0111203 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences."^^xsd:string ; oboInOwl:hasDbXref "ORDO:139536"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN5"@en, "DSMAV"@en, "HMN5"@en, "distal HMN V"@en, "distal hereditary motor neuropathy type V"@en, "distal spinal muscular atrophy type V"@en, "distal spinal muscular atrophy with upper limb predominance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111203"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111204 obo:IAO_0000115 "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563443"^^xsd:string, "OMIM:600794"^^xsd:string, "UMLS_CUI:C1833308"^^xsd:string ; oboInOwl:hasExactSynonym "distal HMN VA"@en, "distal spinal muscular atrophy type VA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111204"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111203 . obo:DOID_0111205 obo:IAO_0000115 "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614751"^^xsd:string ; oboInOwl:hasExactSynonym "distal HMN VB"@en, "distal spinal muscular atrophy type VB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111205"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111203 . obo:DOID_0111206 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness."^^xsd:string ; oboInOwl:hasDbXref "MESH:C580044"^^xsd:string, "ORDO:139525"^^xsd:string, "UMLS_CUI:C3711384"^^xsd:string ; oboInOwl:hasExactSynonym "HMN II"@en, "HMN2"@en, "distal hereditary motor neuropathy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111206"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111207 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608634"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IIB"@en, "HMN2B"@en, "distal hereditary motor neuropathy type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111207"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuropathy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111208 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158590"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IIA"@en, "HMN2A"@en, "autosomal dominant adult spinal muscular atrophy IIA"@en, "distal hereditary motor neuropathy type IIA"@en, "spinal Charcot-Marie-Tooth disease IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111208"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111209 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613376"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN2C"@en, "HMN IIC"@en, "HMN2C"@en, "distal hereditary motor neuropathy type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111209"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111210 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615575"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IID"@en, "HMN2D"@en, "distal hereditary motor neuropathy type IID"@en, "distal spinal muscular atrophy with calf predominance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111210"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111211 obo:IAO_0000115 "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564626"^^xsd:string, "OMIM:607088"^^xsd:string, "ORDO:139547"^^xsd:string, "UMLS_CUI:C1846823"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy type 3"@en, "dHMN3 and dHMN4"@en, "dSMA3"@en, "distal hereditary motor neuropathy type 3 and type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111211"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111212 obo:IAO_0000115 "An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in WARS on 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617721"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN9"@en, "HMN9"@en, "distal hereditary motor neuropathy type IX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111212"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111213 obo:IAO_0000115 "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567023"^^xsd:string, "OMIM:611067"^^xsd:string, "ORDO:206580"^^xsd:string, "UMLS_CUI:C1970211"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA4"@en, "autosomal recessive distal spinal muscular atrophy type 4"@en, "autosomal recessive lower motor neuron disease with childhood onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111213"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111214 obo:IAO_0000115 "A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614881"^^xsd:string, "ORDO:314485"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA5"@en, "autosomal recessive distal spinal muscular atrophy type 5"@en, "young adult-onset dHMN"@en, "young adult-onset distal hereditary motor neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111214"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111215 obo:IAO_0000115 "A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600175"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN8"@en, "HMN8"@en, "autosomal dominant benign distal spinal muscular atrophy"@en, "autosomal dominant congenital benign spinal muscular atrophy"@en, "congenital benign spinal muscular atrophy with contractures"@en, "congenital nonprogressive spinal muscular atrophy"@en, "distal hereditary motor neuropathy type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111215"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111216 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:12718"^^xsd:string, "ORDO:169186"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CNM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111216"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive centronuclear myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14717, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111217 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:12719"^^xsd:string, "ICD10CM:G71.228"^^xsd:string, "MESH:D020914"^^xsd:string, "ORDO:169189"^^xsd:string, "SNOMEDCT_US_2021_03_01:716696006"^^xsd:string, "UMLS_CUI:C1834558"^^xsd:string ; oboInOwl:hasExactSynonym "AD-CNM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111217"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant centronuclear myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14717, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111218 obo:IAO_0000115 "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:229300"^^xsd:string ; oboInOwl:hasExactSynonym "FA1"@en, "FRDA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111218"^^xsd:string ; a owl:Class ; rdfs:label "Friedreich ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12705 . obo:DOID_0111219 obo:IAO_0000115 "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601992"^^xsd:string ; oboInOwl:hasExactSynonym "FRDA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111219"^^xsd:string ; a owl:Class ; rdfs:label "Friedreich ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12705 . obo:DOID_0111220 obo:IAO_0000115 "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562934"^^xsd:string, "OMIM:255200"^^xsd:string, "SNOMEDCT_US_2021_03_01:240081004"^^xsd:string, "UMLS_CUI:C0410204"^^xsd:string ; oboInOwl:hasExactSynonym "CNM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111220"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111216 . obo:DOID_0111221 obo:IAO_0000115 "A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617760"^^xsd:string ; oboInOwl:hasExactSynonym "CNM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111221"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 6 with fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080102 . obo:DOID_0111222 obo:IAO_0000115 "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615959"^^xsd:string ; oboInOwl:hasExactSynonym "CNM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111222"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111216 . obo:DOID_0111223 obo:IAO_0000115 "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:160150"^^xsd:string ; oboInOwl:hasExactSynonym "CNM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111223"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111217, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111224 obo:IAO_0000115 "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614807"^^xsd:string ; oboInOwl:hasExactSynonym "CNM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111224"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111217 . obo:DOID_0111225 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:11925"^^xsd:string, "ICD10CM:G71.220"^^xsd:string, "MESH:D020914"^^xsd:string, "NCI:C118781"^^xsd:string, "OMIM:310400"^^xsd:string, "ORDO:596"^^xsd:string, "SNOMEDCT_US_2021_03_01:46804001"^^xsd:string, "UMLS_CUI:C0410203"^^xsd:string ; oboInOwl:hasExactSynonym "CNMX"@en, "MTM1"@en, "X-linked myotubular myopathy"@en, "XLCNM"@en, "XLMTM"@en, "myotubular myopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111225"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy X-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_14717 . obo:DOID_0111226 obo:IAO_0000115 "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300580"^^xsd:string ; oboInOwl:hasExactSynonym "CFTDX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111226"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital myopathy with fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080102, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000706 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111227 obo:IAO_0000115 "A frontotemporal dementia that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060208"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600795"^^xsd:string ; oboInOwl:hasExactSynonym "CHMP2B-related frontotemporal dementia"^^xsd:string, "FTD3"@en, "amyotrophic lateral sclerosis type 17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111227"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 3-linked frontotemporal dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_9255 . obo:DOID_0111228 obo:IAO_0000115 "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous muation in TEAD1 on 11p15.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566236"^^xsd:string, "OMIM:108985"^^xsd:string, "ORDO:86813"^^xsd:string, "SNOMEDCT_US_2021_03_01:724384008"^^xsd:string, "UMLS_CUI:C1862382"^^xsd:string ; oboInOwl:hasExactSynonym "HPCD"@en, "SCRA"@en, "atrophia areata"@en, "helicoid peripapillary chorioretinal degeneration"@en, "peripapillary chorioretinal degeneration, Icelandic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111228"^^xsd:string ; a owl:Class ; rdfs:label "Sveinsson chorioretinal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0111229 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS236670"^^xsd:string, "ORDO:352687"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA"@en, "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"@en, "klissencephaly type 2 with muscular and ocular involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111229"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111230 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615181"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA11"@en, "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111230"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A11"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111231 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614830"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA8"@en, "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111231"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111232 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616538"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA9"@en, "Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111232"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111233 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615350"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA14"@en, "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111233"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy A14"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111234 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614643"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA7"@en, "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111234"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy A7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111235 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615249"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA12"@en, "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111235"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A12"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111236 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:253280"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA3"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111236"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111237 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236670"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA1"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111237"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111238 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615287"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA13"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111238"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A13"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111239 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615041"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA10"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111239"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A10"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111240 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613150"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA2"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111240"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111241 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613153"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA5"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111241"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111242 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613154"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA6"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111242"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111243 obo:IAO_0000115 "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7"^^xsd:string, "MESH:C535662"^^xsd:string, "OMIM:102370"^^xsd:string, "ORDO:969"^^xsd:string, "SNOMEDCT_US_2021_03_01:254090007"^^xsd:string, "UMLS_CUI:C0265287"^^xsd:string ; oboInOwl:hasExactSynonym "ACMICD"@en, "acromicric skeletal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111243"^^xsd:string ; a owl:Class ; rdfs:label "acromicric dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0111244 obo:IAO_0000115 "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:604"^^xsd:string, "MESH:C537050"^^xsd:string, "OMIM:104100"^^xsd:string, "ORDO:1010"^^xsd:string, "UMLS_CUI:C1863093"^^xsd:string ; oboInOwl:hasExactSynonym "PPK-CA, Stevanovic type"@en, "PPKCA Stevanovic type"@en, "PPKCA1"@en, "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"@en, "autosomal dominant palmoplantar keratoderma and congenital alopecia"@en, "keratoderma-hypotrichosis-leukonychia totalis syndrome"@en, "palmoplantar keratoderma and congenital alopecia, Stevanovic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111244"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma and congenital alopecia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111245 obo:IAO_0000115 "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535336"^^xsd:string, "OMIM:212360"^^xsd:string, "ORDO:1366"^^xsd:string, "UMLS_CUI:C1859316"^^xsd:string ; oboInOwl:hasExactSynonym "CASS"@en, "PPK-CA, Wallis type"@en, "PPKCA Wallis type"@en, "PPKCA2"@en, "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia"@en, "autosomal recessive palmoplantar keratoderma and congenital alopecia"@en, "cataract-alopecia-sclerodactyly syndrome"@en, "palmoplantar keratoderma and congenital alopecia, Wallis type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111245"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma and congenital alopecia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111246 obo:IAO_0000115 "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9239"^^xsd:string, "MESH:D000690"^^xsd:string, "OMIM:105500"^^xsd:string, "ORDO:90020"^^xsd:string, "SNOMEDCT_US_2021_03_01:838276009"^^xsd:string, "UMLS_CUI:C0543859"^^xsd:string ; oboInOwl:hasExactSynonym "ALS-PDC"@en, "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome"@en, "Guam disease"@en, "Lytico-Bodig disease"@en, "PDALS"@en, "amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam"@en, "parkinsonism-dementia-ALS complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111246"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0111247 obo:IAO_0000115 "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:967"^^xsd:string, "MESH:C537095"^^xsd:string, "OMIM:112410"^^xsd:string, "ORDO:1276"^^xsd:string, "SNOMEDCT_US_2021_03_01:720568003"^^xsd:string, "UMLS_CUI:C1862170"^^xsd:string ; oboInOwl:hasExactSynonym "Bilginturan brachydactyly"@en, "Bilginturan syndrome"@en, "HTNB"@en, "brachydactyly with hypertension"@en, "type E brachydactyly with short stature and hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111247"^^xsd:string ; a owl:Class ; rdfs:label "hypertension and brachydactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111248 obo:IAO_0000115 "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6026"^^xsd:string, "MESH:C562538"^^xsd:string, "OMIM:117650"^^xsd:string, "ORDO:1393"^^xsd:string, "SNOMEDCT_US_2021_03_01:51780007"^^xsd:string, "UMLS_CUI:C0265342"^^xsd:string ; oboInOwl:hasExactSynonym "CCM syndrome"@en, "CCMS"@en, "cerebro-costo-mandibular syndrome"@en, "rib gap defects with micrognathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111248"^^xsd:string ; a owl:Class ; rdfs:label "cerebrocostomandibular syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111249 obo:IAO_0000115 "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:1440"^^xsd:string, "MESH:C535971"^^xsd:string, "OMIM:120433"^^xsd:string, "ORDO:1473"^^xsd:string, "UMLS_CUI:C0795902"^^xsd:string ; oboInOwl:hasExactSynonym "COB1"@en, "Uveal coloboma-cleft lip/palate-mental retardation syndrome"@en, "coloboma-microphthalmos syndrome"@en, "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate"@en, "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111249"^^xsd:string ; a owl:Class ; rdfs:label "uveal coloboma-cleft lip and palate-intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111250 obo:IAO_0000115 "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602404"^^xsd:string ; oboInOwl:hasExactSynonym "PARK3"@en, "Parkinson disease 3"@en, "autosomal dominant Lewy body Parkinson disease 3"@en, "autosomal dominant Parkinson disease 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111250"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111251 obo:IAO_0000115 "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616361"^^xsd:string ; oboInOwl:hasExactSynonym "PARK21"@en, "Parkinson disease 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111251"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111252 obo:IAO_0000115 "A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7193"^^xsd:string, "ICD10CM:Q85.02"^^xsd:string, "ICD9CM:237.72"^^xsd:string, "MESH:D016518"^^xsd:string, "NCI:C3274"^^xsd:string, "OMIM:101000"^^xsd:string, "ORDO:637"^^xsd:string, "SNOMEDCT_US_2021_03_01:700060008"^^xsd:string, "UMLS_CUI:C0027832"^^xsd:string ; oboInOwl:hasExactSynonym "ACN"@en, "BANF"@en, "NF2"@en, "bilateral acoustic neurinoma"@en, "bilateral acoustic neurofibromatosis"@en, "bilateral acoustic schwannomas"@en, "central neurofibromatosis"@en, "familial acoustic neuromas"@en, "neurofibromatosis type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111252"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_8712, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111253 obo:IAO_0000115 "A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q85.01"^^xsd:string, "ICD9CM:237.71"^^xsd:string, "MESH:D009456"^^xsd:string, "NCI:C3273"^^xsd:string, "OMIM:162200"^^xsd:string, "OMIM:162210"^^xsd:string, "ORDO:636"^^xsd:string, "SNOMEDCT_US_2021_03_01:92824003"^^xsd:string, "UMLS_CUI:C0027831"^^xsd:string ; oboInOwl:hasExactSynonym "FSNF"@en, "NF1"@en, "Peripheral Neurofibromatosis"@en, "familial spinal neurofibromatosis"@en, "neurofibromatosis type I"@en, "von Recklinghausen Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111253"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_8712, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111254 obo:IAO_0000115 "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6522"^^xsd:string, "MESH:C536833"^^xsd:string, "OMIM:231670"^^xsd:string, "ORDO:25"^^xsd:string ; oboInOwl:hasExactSynonym "GA1"@en, "glutaric academia type 1"@en, "glutaric aciduria 1"@en, "glutaric aciduria type I"@en, "glutaryl-coA dehydrogenase deficiency"@en, "glutaryl-coenzyme A dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111254"^^xsd:string ; a owl:Class ; rdfs:label "glutaric acidemia I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060159, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111255 obo:IAO_0000115 "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3427"^^xsd:string, "MEDDRA:10052312"^^xsd:string, "MESH:C538159"^^xsd:string, "OMIM:236700"^^xsd:string, "ORDO:2473"^^xsd:string, "SNOMEDCT_US_2021_03_01:702407009"^^xsd:string, "UMLS_CUI:C0948368"^^xsd:string ; oboInOwl:hasExactSynonym "HMCS"@en, "Kaufman McKusick syndrome"@en, "MKKS"@en, "hydrometrocolpos syndrome"@en, "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation"@en, "hydrometrocolpos-postaxial polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111255"^^xsd:string ; a owl:Class ; rdfs:label "McKusick-Kaufman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111256 obo:IAO_0000115 "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:2806"^^xsd:string, "MESH:C538137"^^xsd:string, "OMIM:600886"^^xsd:string, "ORDO:163"^^xsd:string, "SNOMEDCT_US_2021_03_01:702398007"^^xsd:string, "UMLS_CUI:C1833213"^^xsd:string ; oboInOwl:hasExactSynonym "Bonneau-Beaumont syndrome"@en, "HHCS"@en, "HRFTC"@en, "cataract-hyperferritinemia syndrome"@en, "hereditary hyperferritinemia with congenital cataracts"@en, "hereditary hyperferritinemia-cataract syndrome"@en, "hyperferritinemia with or without cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111256"^^xsd:string ; a owl:Class ; rdfs:label "hyperferritinemia-cataract syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111257 obo:IAO_0000115 "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:10099"^^xsd:string, "MESH:C536836"^^xsd:string, "OMIM:231950"^^xsd:string, "ORDO:33573"^^xsd:string, "SNOMEDCT_US_2021_03_01:78586005"^^xsd:string, "UMLS_CUI:C0268524"^^xsd:string ; oboInOwl:hasExactSynonym "GGT deficiency"@en, "GGT1 deficiency"@en, "GTG deficiency"@en, "gamma-glutamyl transferase deficiency"@en, "glutathionuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111257"^^xsd:string ; a owl:Class ; rdfs:label "gamma-glutamyl transpeptidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111258 obo:IAO_0000115 "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:418"^^xsd:string, "ICD10CM:E74.89"^^xsd:string, "MEDDRA:10064170"^^xsd:string, "MESH:C536652"^^xsd:string, "OMIM:260800"^^xsd:string, "ORDO:2843"^^xsd:string, "SNOMEDCT_US_2021_03_01:190764000"^^xsd:string, "UMLS_CUI:C0268162"^^xsd:string ; oboInOwl:hasExactSynonym "L-xylulose reductase deficiency"@en, "L-xylulosuria"@en, "PNTSU"@en, "essential pentosuria"@en, "xylitol dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111258"^^xsd:string ; a owl:Class ; rdfs:label "pentosuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111259 obo:IAO_0000115 "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8410"^^xsd:string, "MESH:C537680"^^xsd:string, "OMIM:263750"^^xsd:string, "ORDO:246"^^xsd:string, "SNOMEDCT_US_2021_03_01:66038001"^^xsd:string, "UMLS_CUI:C0265257"^^xsd:string ; oboInOwl:hasExactSynonym "Miller syndrome"@en, "POADS"@en, "Postaxial acrodysostosis"@en, "acrofacial dysostosis, Genee-Wiedmann type"@en, "mandibulfacial dysostosis with postaxial limb anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111259"^^xsd:string ; a owl:Class ; rdfs:label "postaxial acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111260 obo:IAO_0000115 "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567064"^^xsd:string, "OMIM:300661"^^xsd:string, "ORDO:3222"^^xsd:string, "SNOMEDCT_US_2021_03_01:723454008"^^xsd:string, "UMLS_CUI:C1970827"^^xsd:string ; oboInOwl:hasExactSynonym "PRPP synthetase superactivity"@en, "PRPS1 superactivity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111260"^^xsd:string ; a owl:Class ; rdfs:label "phosphoribosylpyrophosphate synthetase superactivity"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111261 obo:IAO_0000115 "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:6476"^^xsd:string, "MESH:C538191"^^xsd:string, "OMIM:606812"^^xsd:string, "ORDO:24"^^xsd:string, "SNOMEDCT_US_2021_03_01:237983002"^^xsd:string, "UMLS_CUI:C0342770"^^xsd:string, "UMLS_CUI:C2936826"^^xsd:string ; oboInOwl:hasExactSynonym "FMRD"@en, "fumaric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111261"^^xsd:string ; a owl:Class ; rdfs:label "fumarase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111262 obo:IAO_0000115 "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10995"^^xsd:string, "OMIM:613668"^^xsd:string, "ORDO:402364"^^xsd:string ; oboInOwl:hasExactSynonym "postnatal progressive microcephaly, seizures, and brain atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111262"^^xsd:string ; a owl:Class ; rdfs:label "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111263 obo:IAO_0000115 "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10818"^^xsd:string, "MESH:C580002"^^xsd:string, "OMIM:614265"^^xsd:string, "ORDO:289504"^^xsd:string, "SNOMEDCT_US_2021_03_01:702365002"^^xsd:string, "UMLS_CUI:C3280314"^^xsd:string ; oboInOwl:hasExactSynonym "CMAMMA"@en, "combined malonic and methylmalonic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111263"^^xsd:string ; a owl:Class ; rdfs:label "combined malonic and methylmalonic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060159, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111264 obo:IAO_0000115 "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616200"^^xsd:string, "ORDO:435953"^^xsd:string ; oboInOwl:hasExactSynonym "progeroid features-hepatocellular carcinoma predisposition syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111264"^^xsd:string ; a owl:Class ; rdfs:label "Ruijs-Aalfs syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111265 obo:IAO_0000115 "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:944"^^xsd:string, "MESH:C565850"^^xsd:string, "OMIM:215470"^^xsd:string, "ORDO:1180"^^xsd:string, "SNOMEDCT_US_2021_03_01:715984007"^^xsd:string, "UMLS_CUI:C1859093"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia-hypogonadism-choroidal dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111265"^^xsd:string ; a owl:Class ; rdfs:label "Boucher-Neuhauser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111266 obo:IAO_0000115 "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:413"^^xsd:string, "MESH:C537799"^^xsd:string, "OMIM:231070"^^xsd:string, "ORDO:2078"^^xsd:string, "SNOMEDCT_US_2021_03_01:254116003"^^xsd:string, "UMLS_CUI:C0432255"^^xsd:string ; oboInOwl:hasExactSynonym "GO"@en, "Walt Disney dwarfism"@en, "geroderma osteodysplastica"@en, "gerodermia osteodysplastica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111266"^^xsd:string ; a owl:Class ; rdfs:label "geroderma osteodysplasticum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111267 obo:IAO_0000115 "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7148"^^xsd:string, "ORDO:53698"^^xsd:string ; oboInOwl:hasExactSynonym "myosin storage myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111267"^^xsd:string ; a owl:Class ; rdfs:label "hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100 . obo:DOID_0111268 obo:IAO_0000115 "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:255160"^^xsd:string ; oboInOwl:hasExactSynonym "MSMB"@en, "Myopathy, myosin storage, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111268"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111269 obo:IAO_0000115 "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608358"^^xsd:string ; oboInOwl:hasExactSynonym "MSMA"@en, "Myopathy, myosin storage, autosomal dominant"@en, "myopathy with lysis of type I myofibrils"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111269"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111270 obo:IAO_0000115 "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5062"^^xsd:string, "ICD10CM:E72.19"^^xsd:string, "MESH:C538141"^^xsd:string, "OMIM:272300"^^xsd:string, "ORDO:99731"^^xsd:string, "SNOMEDCT_US_2021_03_01:237935000"^^xsd:string, "SNOMEDCT_US_2021_03_01:40873003"^^xsd:string, "UMLS_CUI:C0268624"^^xsd:string, "UMLS_CUI:C2931746"^^xsd:string ; oboInOwl:hasExactSynonym "sulfocysteinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111270"^^xsd:string ; a owl:Class ; rdfs:label "isolated sulfite oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111271 obo:IAO_0000115 "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5266"^^xsd:string, "MESH:C536554"^^xsd:string, "OMIM:275400"^^xsd:string, "ORDO:3363"^^xsd:string, "SNOMEDCT_US_2021_03_01:719944006"^^xsd:string, "UMLS_CUI:C1848745"^^xsd:string ; oboInOwl:hasExactSynonym "OMCS"@en, "eyelashes long mental retardation"@en, "long eyelashes-intellectual disability syndrome"@en, "trichomegaly-retina pigmentary degeneration-dwarfism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111271"^^xsd:string ; a owl:Class ; rdfs:label "Oliver-McFarlane syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111272 obo:IAO_0000115 "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:4017"^^xsd:string, "MESH:C537860"^^xsd:string, "OMIM:304150"^^xsd:string, "ORDO:198"^^xsd:string, "SNOMEDCT_US_2021_03_01:59399004"^^xsd:string, "UMLS_CUI:C0268353"^^xsd:string ; oboInOwl:hasExactSynonym "EDS IX"@en, "Ehlers-Danlos syndrome type 9"@en, "Ehlers-Danlos syndrome type IX"@en, "X-linked cutis laxa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111272"^^xsd:string ; a owl:Class ; rdfs:label "occipital horn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111273 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "MEDDRA:10062940"^^xsd:string, "MESH:C537396"^^xsd:string, "OMIM:551500"^^xsd:string, "ORDO:644"^^xsd:string, "SNOMEDCT_US_2021_03_01:237984008"^^xsd:string, "UMLS_CUI:C1328349"^^xsd:string ; oboInOwl:hasExactSynonym "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome"@en, "Neuropathy-ataxia-retinitis pigmentosa syndrome"@en, "neuropathy, ataxia and retinitis pigmentosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111273"^^xsd:string ; a owl:Class ; rdfs:comment "GARD:262"^^xsd:string ; rdfs:label "NARP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111274 obo:IAO_0000115 "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1418"^^xsd:string, "MESH:C536434"^^xsd:string, "NCI:C126744"^^xsd:string, "OMIM:600373"^^xsd:string, "ORDO:1458"^^xsd:string, "SNOMEDCT_US_2021_03_01:717772000"^^xsd:string, "UMLS_CUI:C1838180"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral, ocular, dental, auricular, and skeletal syndrome"@en, "cerebro-oculo-dento-auriculo-skeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111274"^^xsd:string ; a owl:Class ; rdfs:label "CODAS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111275 obo:IAO_0000115 "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12889"^^xsd:string, "OMIM:602081"^^xsd:string, "ORDO:209908"^^xsd:string ; oboInOwl:hasExactSynonym "CAS"@en, "articulatory apraxia"@en, "childhood apraxia of speech"@en, "developmental apraxia of speech"@en, "developmental verbal dyspraxia"@en, "speech and language disorder with orofacial dyspraxia"@en, "speech-language disorder type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111275"^^xsd:string ; a owl:Class ; rdfs:label "speech-language disorder-1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_92, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111276 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537583"^^xsd:string, "OMIM:607459"^^xsd:string, "ORDO:70595"^^xsd:string, "UMLS_CUI:C1843851"^^xsd:string ; oboInOwl:hasExactSynonym "SANDO"@en, "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111276"^^xsd:string ; a owl:Class ; rdfs:label "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111277 obo:IAO_0000115 "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3684"^^xsd:string, "MESH:C566945"^^xsd:string, "NCI:C98991"^^xsd:string, "OMIM:609015"^^xsd:string, "ORDO:746"^^xsd:string, "SNOMEDCT_US_2021_03_01:237999008"^^xsd:string, "UMLS_CUI:C1969443"^^xsd:string ; oboInOwl:hasExactSynonym "MTPD"@en, "TFP deficiency"@en, "TFPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111277"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial trifunctional protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111278 obo:IAO_0000115 "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36075"^^xsd:string, "OMIM:602782"^^xsd:string ; oboInOwl:hasExactSynonym "Faisalabad histiocytosis"@en, "H syndrome"@en, "HJCD"@en, "PHID"@en, "SHML"@en, "cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss"@en, "familial Rosai-Dorfman disease"@en, "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness"@en, "histiocytosis with joint contractures and sensorineural deafness"@en, "pigmented hypertrichosis with insulin-dependent diabetes mellitus"@en, "sinus histiocytosis and massive lymphadenopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111278"^^xsd:string ; a owl:Class ; rdfs:label "histiocytosis-lymphadenopathy plus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111279 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605606"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111279"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111280 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603935"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111280"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111281 obo:IAO_0000115 "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in AP1S3 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616106"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111281"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111282 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604316"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111282"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111283 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601454"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111283"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111284 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607857"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111284"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111285 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612599"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111285"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111286 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:177900"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111286"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111287 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in TRAF3IP2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614070"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111287"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111288 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610707"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111288"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111289 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612410"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111289"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111290 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605364"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111290"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111291 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612950"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111291"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111292 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613060"^^xsd:string ; oboInOwl:hasExactSynonym "EIG10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111292"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111293 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609800"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+4"@en, "GEFSP4"@en, "generalised epilepsy with febrile seizures plus 4"@en, "generalised epilepsy with febrile seizures plus type 4"@en, "generalized epilepsy with febrile seizures plus type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111293"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111294 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604403"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+2"@en, "GEFSP2"@en, "generalised epilepsy with febrile seizures plus 2"@en, "generalised epilepsy with febrile seizures plus type 2"@en, "generalized epilepsy with febrile seizures plus type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111294"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111295 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613863"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+7"@en, "GEFSP7"@en, "generalised epilepsy with febrile seizures plus 7"@en, "generalised epilepsy with febrile seizures plus type 7"@en, "generalized epilepsy with febrile seizures plus type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111295"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111296 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618482"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+10"@en, "GEFSP10"@en, "generalised epilepsy with febrile seizures plus 10"@en, "generalised epilepsy with febrile seizures plus type 10"@en, "generalized epilepsy with febrile seizures plus type 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111296"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111297 obo:IAO_0000115 "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS121210"^^xsd:string ; oboInOwl:hasExactSynonym "FEB"@en, "familial febrile convulsions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111297"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0111298 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607681"^^xsd:string ; oboInOwl:hasExactSynonym "FEB8"@en, "familial febrile convulsions 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111298"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111299 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613828"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+8"@en, "GEFSP8"@en, "generalised epilepsy with febrile seizures plus 8"@en, "generalised epilepsy with febrile seizures plus type 8"@en, "generalized epilepsy with febrile seizures plus type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111299"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111300 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612279"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+6"@en, "GEFSP6"@en, "generalised epilepsy with febrile seizures plus 6"@en, "generalised epilepsy with febrile seizures plus type 6"@en, "generalized epilepsy with febrile seizures plus type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111300"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111301 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616172"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+9"@en, "GEFSP9"@en, "generalised epilepsy with febrile seizures plus 9"@en, "generalised epilepsy with febrile seizures plus type 9"@en, "generalized epilepsy with febrile seizures plus type 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111301"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111302 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604233"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+1"@en, "GEFSP1"@en, "generalised epilepsy with febrile seizures plus 1"@en, "generalised epilepsy with febrile seizures plus type 1"@en, "generalized epilepsy with febrile seizures plus type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111302"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111303 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611634"^^xsd:string ; oboInOwl:hasExactSynonym "FEB9"@en, "familial febrile convulsions 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111303"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111304 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612637"^^xsd:string ; oboInOwl:hasExactSynonym "FEB10"@en, "familial febrile convulsions 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111304"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111305 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation ADGRV1 on chromosome 5q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604352"^^xsd:string ; oboInOwl:hasExactSynonym "FEB4"@en, "familial febrile convulsions 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111305"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111306 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609255"^^xsd:string ; oboInOwl:hasExactSynonym "FEB5"@en, "familial febrile convulsions 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111306"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111307 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:121210"^^xsd:string ; oboInOwl:hasExactSynonym "FEB1"@en, "familial febrile convulsions 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111307"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111308 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in homozygous mutation in CPA6 on chromosome 8p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614418"^^xsd:string ; oboInOwl:hasExactSynonym "FEB11"@en, "familial febrile convulsions 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111308"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111309 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609253"^^xsd:string ; oboInOwl:hasExactSynonym "FEB6"@en, "familial febrile convulsions 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111309"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111310 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602477"^^xsd:string ; oboInOwl:hasExactSynonym "FEB2"@en, "familial febrile convulsions 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111310"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111311 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611515"^^xsd:string ; oboInOwl:hasExactSynonym "FEB7"@en, "familial febrile convulsions 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111311"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111312 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607628"^^xsd:string ; oboInOwl:hasExactSynonym "EIG11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111312"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111313 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614847"^^xsd:string ; oboInOwl:hasExactSynonym "EIG12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111313"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111314 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611136"^^xsd:string ; oboInOwl:hasExactSynonym "EIG13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111314"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111315 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616685"^^xsd:string ; oboInOwl:hasExactSynonym "EIG14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111315"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111316 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618357"^^xsd:string ; oboInOwl:hasExactSynonym "EIG15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111316"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111317 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606972"^^xsd:string ; oboInOwl:hasExactSynonym "EIG2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111317"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111318 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608762"^^xsd:string ; oboInOwl:hasExactSynonym "EIG3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111318"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111319 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609750"^^xsd:string ; oboInOwl:hasExactSynonym "EIG4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111319"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111320 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611934"^^xsd:string ; oboInOwl:hasExactSynonym "EIG5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111320"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111321 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604827"^^xsd:string ; oboInOwl:hasExactSynonym "EIG7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111321"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111322 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612899"^^xsd:string ; oboInOwl:hasExactSynonym "EIG8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111322"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111323 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607682"^^xsd:string ; oboInOwl:hasExactSynonym "EIG9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111323"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111324 obo:IAO_0000115 "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607631"^^xsd:string ; oboInOwl:hasExactSynonym "EJA1"@en, "JAE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111324"^^xsd:string ; a owl:Class ; rdfs:label "juvenile absence epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060172 . obo:DOID_0111325 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617924"^^xsd:string ; oboInOwl:hasExactSynonym "EJM10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111325"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111326 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608816"^^xsd:string ; oboInOwl:hasExactSynonym "EJM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111326"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111327 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611364"^^xsd:string ; oboInOwl:hasExactSynonym "EJM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111327"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111328 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614280"^^xsd:string ; oboInOwl:hasExactSynonym "EJM9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111328"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111329 obo:IAO_0000115 "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10730"^^xsd:string, "MESH:C566449"^^xsd:string, "OMIM:610090"^^xsd:string, "ORDO:79096"^^xsd:string, "SNOMEDCT_US_2021_03_01:724576005"^^xsd:string, "UMLS_CUI:C1864723"^^xsd:string ; oboInOwl:hasExactSynonym "PNPO deficiency"@en, "PNPO-related neonatal epileptic encephalopathy"@en, "pyridoxal 5'-phosphate-dependent epilepsy"@en, "pyridoxal phosphate-dependent seizures"@en, "pyridoxal phosphate-responsive seizures"@en, "pyridoxamine 5'-oxidase deficiency"@en, "pyridoxamine 5-prime-phosphate oxidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111329"^^xsd:string ; a owl:Class ; rdfs:label "pyridoxamine 5'-phosphate oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718 . obo:DOID_0111330 obo:IAO_0000115 "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611721"^^xsd:string, "ORDO:139406"^^xsd:string ; oboInOwl:hasExactSynonym "PSAPD"@en, "combined SAP deficiency"@en, "encephalopathy due to prosaposin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111330"^^xsd:string ; a owl:Class ; rdfs:label "combined saposin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_1927, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111331 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12501"^^xsd:string, "OMIM:613670"^^xsd:string, "ORDO:391372"^^xsd:string ; oboInOwl:hasExactSynonym "FOXP1 syndrome"@en, "Mental retardation with language impairment and with or without autistic features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111331"^^xsd:string ; a owl:Class ; rdfs:label "intellectual disability-severe speech delay-mild dysmorphism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111332 obo:IAO_0000115 "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614325"^^xsd:string ; oboInOwl:hasExactSynonym "PTHSL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111332"^^xsd:string ; a owl:Class ; rdfs:label "Pitt-Hopkins-like syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111333 obo:IAO_0000115 "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12199"^^xsd:string, "OMIM:614399"^^xsd:string, "ORDO:439212"^^xsd:string ; oboInOwl:hasExactSynonym "EMARDD"@en, "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111333"^^xsd:string ; a owl:Class ; rdfs:label "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111334 obo:IAO_0000115 "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614962"^^xsd:string, "ORDO:66628"^^xsd:string ; oboInOwl:hasExactSynonym "LEPD"@en, "leptin deficiency or dysfunction"@en, "morbid obesity"@en, "obesity due to congenital leptin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111334"^^xsd:string ; a owl:Class ; rdfs:label "congenital leptin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111335 obo:IAO_0000115 "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12978"^^xsd:string, "OMIM:615673"^^xsd:string, "ORDO:401768"^^xsd:string ; oboInOwl:hasExactSynonym "MPXPS"@en, "proximal myopathy with extrapyramidal signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111335"^^xsd:string ; a owl:Class ; rdfs:label "myopathy with extrapyramidal signs"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111336 obo:IAO_0000115 "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:1571"^^xsd:string, "MESH:C536453"^^xsd:string, "OMIM:122880"^^xsd:string, "ORDO:1529"^^xsd:string, "SNOMEDCT_US_2021_03_01:702362004"^^xsd:string, "UMLS_CUI:C1852510"^^xsd:string ; oboInOwl:hasExactSynonym "CDHS"@en, "Sommer-Young-Wee-Frye syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111336"^^xsd:string ; a owl:Class ; rdfs:label "craniofacial-deafness-hand syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111337 obo:IAO_0000115 "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6796"^^xsd:string, "MESH:C537559"^^xsd:string, "NCI:C123814"^^xsd:string, "OMIM:123150"^^xsd:string, "ORDO:1540"^^xsd:string, "SNOMEDCT_US_2021_03_01:709105005"^^xsd:string, "UMLS_CUI:C0795998"^^xsd:string ; oboInOwl:hasExactSynonym "JWS"@en, "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111337"^^xsd:string ; a owl:Class ; rdfs:label "Jackson-Weiss syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111338 obo:IAO_0000115 "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:123320"^^xsd:string ; oboInOwl:hasExactSynonym "elevated serum CPK"@en, "idiopathic hyperCKemia"@en, "isolated hyperCKemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111338"^^xsd:string ; a owl:Class ; rdfs:label "isolated elevated serum creatine phosphokinase levels"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111339 obo:IAO_0000115 "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536457"^^xsd:string, "OMIM:124500"^^xsd:string, "ORDO:3092"^^xsd:string, "ORDO:494"^^xsd:string, "SNOMEDCT_US_2021_03_01:24559001"^^xsd:string, "UMLS_CUI:C0265964"^^xsd:string ; oboInOwl:hasExactSynonym "KHM"@en, "Mutilating keratoderma plus deafness"@en, "PPK mutilans and deafness"@en, "VOWNKL"@en, "congenital deafness with keratopachydermia and constrictions fo fingers and toes"@en, "keratoderma hereditarium mutilans"@en, "mutilating keratoderma of Vohwinkel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111339"^^xsd:string ; a owl:Class ; rdfs:label "Vohwinkel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111340 obo:IAO_0000115 "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:5243"^^xsd:string, "OMIM:125250"^^xsd:string, "UMLS_CUI:C3276549"^^xsd:string ; oboInOwl:hasExactSynonym "DOA+"@en, "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111340"^^xsd:string ; a owl:Class ; rdfs:label "dominant optic atrophy plus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111341 obo:IAO_0000115 "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565114"^^xsd:string, "OMIM:125350"^^xsd:string, "ORDO:412206"^^xsd:string, "UMLS_CUI:C1852222"^^xsd:string ; oboInOwl:hasExactSynonym "PFE"@en, "dental noneruption"@en, "familial posterior openbite malocclusion"@en, "nonsyndromic primary failure of eruption"@en, "primary retention of teeth"@en, "unerupted second primary molar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111341"^^xsd:string ; a owl:Class ; rdfs:label "primary failure of tooth eruption"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1091, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111342 obo:IAO_0000115 "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8550"^^xsd:string, "MESH:C535374"^^xsd:string, "OMIM:125595"^^xsd:string, "ORDO:86920"^^xsd:string, "SNOMEDCT_US_2021_03_01:239088003"^^xsd:string, "UMLS_CUI:C0406778"^^xsd:string ; oboInOwl:hasExactSynonym "DPR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111342"^^xsd:string ; a owl:Class ; rdfs:label "dermatopathia pigmentosa reticularis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111343 obo:IAO_0000115 "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9873"^^xsd:string, "MESH:C537878"^^xsd:string, "OMIM:130720"^^xsd:string, "ORDO:2789"^^xsd:string, "UMLS_CUI:C1851710"^^xsd:string ; oboInOwl:hasExactSynonym "Lehman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111343"^^xsd:string ; a owl:Class ; rdfs:label "lateral meningocele syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111344 obo:IAO_0000115 "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of ETV6 and PDGFRB formed by a translocation from chromosome 12 to chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131440"^^xsd:string ; oboInOwl:hasExactSynonym "chronic myeloproliferative disorder with eosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111344"^^xsd:string ; a owl:Class ; rdfs:label "myeloproliferative disorder with eosinophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_2226 . obo:DOID_0111345 obo:IAO_0000115 "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10010"^^xsd:string, "MESH:C536979"^^xsd:string, "OMIM:131705"^^xsd:string, "ORDO:79411"^^xsd:string, "SNOMEDCT_US_2021_03_01:723553000"^^xsd:string, "UMLS_CUI:C1851573"^^xsd:string ; oboInOwl:hasExactSynonym "DEB, bullous dermolysis of the newborn"@en, "DEB-BDN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111345"^^xsd:string ; a owl:Class ; rdfs:label "transient bullous dermolysis of the newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111346 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9737"^^xsd:string, "MESH:C535959"^^xsd:string, "OMIM:131960"^^xsd:string, "ORDO:79397"^^xsd:string, "SNOMEDCT_US_2021_03_01:254180002"^^xsd:string, "UMLS_CUI:C0432316"^^xsd:string ; oboInOwl:hasExactSynonym "EBSMP"@en, "Epidermolysis bullosa simplex-MP"@en, "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111346"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex with mottled pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111347 obo:IAO_0000115 "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:132000"^^xsd:string ; oboInOwl:hasExactSynonym "EBD, Bart type"@en, "epidermolysis bullosa dystrophica, Bart type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111347"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa with congenital localized absence of skin and deformity of nails"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_0080224, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111348 obo:IAO_0000115 "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565046"^^xsd:string, "OMIM:132450"^^xsd:string, "ORDO:166011"^^xsd:string, "UMLS_CUI:C1851536"^^xsd:string ; oboInOwl:hasExactSynonym "EDMMD"@en, "multiple epiphyseal dysplasia, Beighton type"@en, "multiple epiphyseal dysplasia-myopia-deafness syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111348"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia with myopia and deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111349 obo:IAO_0000115 "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535944"^^xsd:string, "OMIM:135290"^^xsd:string, "UMLS_CUI:C1851124"^^xsd:string ; oboInOwl:hasExactSynonym "FIF"@en, "familial infiltrative fibromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111349"^^xsd:string ; a owl:Class ; rdfs:label "hereditary desmoid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111350 obo:IAO_0000115 "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:155"^^xsd:string, "MESH:C535689"^^xsd:string, "OMIM:135750"^^xsd:string, "ORDO:2378"^^xsd:string, "SNOMEDCT_US_2021_03_01:715440003"^^xsd:string, "UMLS_CUI:C1851100"^^xsd:string ; oboInOwl:hasExactSynonym "MIPduplication of fibuland ulna with absence of tibia and radius"@en, "Sandrow syndrome"@en, "TMIP"@en, "miccor hands and feet with nasal defects"@en, "mirror hands and feets-nasal defects syndrome"@en, "mirror-image polydactyly"@en, "tetramelic mirror-image polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111350"^^xsd:string ; a owl:Class ; rdfs:label "Laurin-Sandrow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0111351 obo:IAO_0000115 "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600721"^^xsd:string ; oboInOwl:hasExactSynonym "D2HGA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111351"^^xsd:string ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050575, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111352 obo:IAO_0000115 "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613657"^^xsd:string ; oboInOwl:hasExactSynonym "D2HGA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111352"^^xsd:string ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050575, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111353 obo:IAO_0000115 "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208085"^^xsd:string ; oboInOwl:hasExactSynonym "ARCS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111353"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111354 obo:IAO_0000115 "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613404"^^xsd:string ; oboInOwl:hasExactSynonym "ARCS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111354"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111355 obo:IAO_0000115 "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236680"^^xsd:string ; oboInOwl:hasExactSynonym "HLS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111355"^^xsd:string ; a owl:Class ; rdfs:label "hydrolethalus syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050779 . obo:DOID_0111356 obo:IAO_0000115 "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614120"^^xsd:string ; oboInOwl:hasExactSynonym "HLS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111356"^^xsd:string ; a owl:Class ; rdfs:label "hydrolethalus syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050779 . obo:DOID_0111357 obo:IAO_0000115 "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12550"^^xsd:string, "OMIM:136000"^^xsd:string, "ORDO:289465"^^xsd:string ; oboInOwl:hasExactSynonym "ADERM"@en, "ADG"@en, "Absence of fingerprints"@en, "Congenital absence of fingerprints"@en, "Immigration delay disease"@en, "Isolated congenital adermatoglyphia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111357"^^xsd:string ; a owl:Class ; rdfs:label "adermatoglyphia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0111358 obo:IAO_0000115 "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:6455"^^xsd:string, "MESH:C537062"^^xsd:string, "OMIM:136140"^^xsd:string, "ORDO:2044"^^xsd:string, "SNOMEDCT_US_2021_03_01:205810007"^^xsd:string, "UMLS_CUI:C0729582"^^xsd:string ; oboInOwl:hasExactSynonym "FLHS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111358"^^xsd:string ; a owl:Class ; rdfs:label "Floating-Harbor syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111359 obo:IAO_0000115 "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "GARD:2469"^^xsd:string, "MEDDRA:10072036"^^xsd:string, "MESH:C536819"^^xsd:string, "NCI:C3944"^^xsd:string, "NCI:C4234"^^xsd:string, "OMIM:137550"^^xsd:string, "ORDO:626"^^xsd:string, "SNOMEDCT_US_2021_03_01:254815002"^^xsd:string, "SNOMEDCT_US_2021_03_01:84953004"^^xsd:string, "UMLS_CUI:C1318558"^^xsd:string, "UMLS_CUI:C1842036"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital pigmented nevus"@en, "GMN"@en, "Giant congenital melanocytic nevus"@en, "Giant pigmented hairy nevus"@en, "LCMN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111359"^^xsd:string ; a owl:Class ; rdfs:label "large congenital melanocytic nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111360 obo:IAO_0000115 "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137940"^^xsd:string ; oboInOwl:hasExactSynonym "HLT-renal defect syndrome"@en, "HLTRS"@en, "glomerulonephritis with sparse hair and telangiectases"@en, "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"@en, "telangiectatic membranoproliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111360"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111361 obo:IAO_0000115 "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607823"^^xsd:string ; oboInOwl:hasExactSynonym "HLTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111361"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis-lymphedema-telangiectasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111362 obo:IAO_0000115 "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5668"^^xsd:string, "MESH:C535845"^^xsd:string, "OMIM:140350"^^xsd:string, "ORDO:2118"^^xsd:string, "SNOMEDCT_US_2021_03_01:403001"^^xsd:string, "UMLS_CUI:C2931042"^^xsd:string ; oboInOwl:hasExactSynonym "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency"@en, "4-HPPD deficiency"@en, "4-hydroxyphenylpyruvic acid dioxygenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111362"^^xsd:string ; a owl:Class ; rdfs:label "hawkinsinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111363 obo:IAO_0000115 "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:10718"^^xsd:string, "OMIM:140700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111363"^^xsd:string ; a owl:Class ; rdfs:label "Heinz body anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2861, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111364 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608907"^^xsd:string ; oboInOwl:hasExactSynonym "AD9"@en, "Alzheimer's disease 9, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111364"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111365 obo:IAO_0000115 "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:141200"^^xsd:string ; oboInOwl:hasExactSynonym "BFH"@en, "TMN"@en, "thin basement membrane nephropathy"@en, "thin membrane nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111365"^^xsd:string ; a owl:Class ; rdfs:label "benign familial hematuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_18, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111366 obo:IAO_0000115 "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142330"^^xsd:string ; oboInOwl:hasExactSynonym "familial liver cell adenomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111366"^^xsd:string ; a owl:Class ; rdfs:label "familial hepatic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050868, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111367 obo:IAO_0000115 "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2690"^^xsd:string, "MESH:C564185"^^xsd:string, "OMIM:142669"^^xsd:string, "ORDO:2114"^^xsd:string, "SNOMEDCT_US_2021_03_01:721148005"^^xsd:string, "UMLS_CUI:C1840572"^^xsd:string ; oboInOwl:hasExactSynonym "BFHD"@en, "Beukes familial hip dysplasia"@en, "Beukes type hip dysplasia"@en, "Cilliers-Beighton syndrome"@en, "Premature degenerative osteoarthropathy of the hip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111367"^^xsd:string ; a owl:Class ; rdfs:label "Beukes hip dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8398, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111368 obo:IAO_0000115 "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood."^^xsd:string ; oboInOwl:hasDbXref "ORDO:79506"^^xsd:string ; oboInOwl:hasExactSynonym "CEPT deficiency"@en, "familial hyperalphalipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111368"^^xsd:string ; a owl:Class ; rdfs:label "cholesterol-ester transfer protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0111369 obo:IAO_0000115 "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564591"^^xsd:string, "NCI:C128806"^^xsd:string, "OMIM:143470"^^xsd:string, "SNOMEDCT_US_2021_03_01:238080004"^^xsd:string, "UMLS_CUI:C0342883"^^xsd:string ; oboInOwl:hasExactSynonym "HALP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111369"^^xsd:string ; a owl:Class ; rdfs:label "hyperalphalipoproteinemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111368, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111370 obo:IAO_0000115 "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614028"^^xsd:string ; oboInOwl:hasExactSynonym "HALP2"@en, "hyperalphalipoproteinemia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111370"^^xsd:string ; a owl:Class ; rdfs:label "apolipoprotein C-III deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111368, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111371 obo:IAO_0000115 "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:143860"^^xsd:string, "ORDO:542657"^^xsd:string, "SNOMEDCT_US_2021_03_01:709413001"^^xsd:string, "UMLS_CUI:C1840437"^^xsd:string ; oboInOwl:hasExactSynonym "HYCHL"@en, "carbonic anhydrase XII deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111371"^^xsd:string ; a owl:Class ; rdfs:label "isolated hyperchlorhidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111372 obo:IAO_0000115 "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111372"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant endosteal hyperostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0111373 obo:IAO_0000115 "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145250"^^xsd:string ; oboInOwl:hasExactSynonym "FPHH"@en, "MUH"@en, "melanosis universalis hereditaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111373"^^xsd:string ; a owl:Class ; rdfs:label "familial progressive hyperpigmentation with or without hypopigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111374 obo:IAO_0000115 "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564154"^^xsd:string, "OMIM:145650"^^xsd:string, "ORDO:165994"^^xsd:string, "UMLS_CUI:C1840364"^^xsd:string ; oboInOwl:hasExactSynonym "PRTH"@en, "familial hyperthyroidism due to inappropriate thyrotropin secretion"@en, "pituitary resistance to thyroid hormone"@en, "selective pituitary resistance to thyroid hormone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111374"^^xsd:string ; a owl:Class ; rdfs:label "selective pituitary thyroid hormone resistance"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7998, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111375 obo:IAO_0000115 "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction."^^xsd:string ; oboInOwl:hasDbXref "GARD:9634"^^xsd:string, "MESH:C536647"^^xsd:string, "NCI:C129071"^^xsd:string, "OMIM:PS208150"^^xsd:string, "ORDO:994"^^xsd:string, "SNOMEDCT_US_2021_03_01:401138005"^^xsd:string, "UMLS_CUI:C1276035"^^xsd:string ; oboInOwl:hasExactSynonym "FADS"@en, "Pena-Shokeir syndrome type 1"@en, "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome"@en, "fetal akinesia sequence"@en, "foetal akinesia deformation sequence syndrome"@en, "foetal akinesia sequence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111375"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111376 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618389"^^xsd:string ; oboInOwl:hasExactSynonym "FADS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111376"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111377 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208150"^^xsd:string ; oboInOwl:hasExactSynonym "FADS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111377"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111378 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618388"^^xsd:string ; oboInOwl:hasExactSynonym "FADS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111378"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111379 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618393"^^xsd:string ; oboInOwl:hasExactSynonym "FADS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111379"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111380 obo:IAO_0000115 "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4877"^^xsd:string, "OMIM:147250"^^xsd:string ; oboInOwl:hasExactSynonym "SMMCI"@en, "fused incisors"@en, "single central maxillary incisor"@en, "single median maxillary central incisor"@en, "single upper central incisor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111380"^^xsd:string ; a owl:Class ; rdfs:label "solitary median maxillary central incisor"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1091, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111381 obo:IAO_0000115 "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:269"^^xsd:string, "MESH:C535544"^^xsd:string, "OMIM:147750"^^xsd:string, "ORDO:2307"^^xsd:string, "SNOMEDCT_US_2021_03_01:722019000"^^xsd:string, "UMLS_CUI:C1327918"^^xsd:string ; oboInOwl:hasExactSynonym "Instituto Venezolano de Investigaciones Cientificas syndrome"@en, "OORS"@en, "Oculootoradial syndrome"@en, "oculo-oto-radial syndrome"@en, "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111381"^^xsd:string ; a owl:Class ; rdfs:label "IVIC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111382 obo:IAO_0000115 "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3030"^^xsd:string, "MESH:C535540"^^xsd:string, "MESH:C536307"^^xsd:string, "OMIM:147891"^^xsd:string, "ORDO:1509"^^xsd:string, "SNOMEDCT_US_2021_03_01:720752007"^^xsd:string, "UMLS_CUI:C1840061"^^xsd:string, "UMLS_CUI:C1868581"^^xsd:string ; oboInOwl:hasExactSynonym "SPS"@en, "Scott-Taor syndrome"@en, "congenital coxa vara, patella aplasia and tarsal synostosis"@en, "coxo-podo-patellar syndrome"@en, "coxopodipatellar syndrome"@en, "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"@en, "ischiopatellar dysplasia"@en, "patella aplasia, coxa vara, and tarsal synostosis"@en, "small patella syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111382"^^xsd:string ; a owl:Class ; rdfs:label "ischiocoxopodopatellar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111383 obo:IAO_0000115 "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3089"^^xsd:string, "MESH:C537022"^^xsd:string, "OMIM:148190"^^xsd:string, "ORDO:2334"^^xsd:string, "UMLS_CUI:C1835698"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111383"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4677, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111384 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615422"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD2"@en, "MSP2"@en, "multisystem proteinopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111384"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111385 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:167320"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD1"@en, "MSP1"@en, "multisystem proteinopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111385"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111386 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615424"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD3"@en, "MSP3"@en, "multisystem proteinopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111386"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111387 obo:IAO_0000115 "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146200"^^xsd:string ; oboInOwl:hasExactSynonym "FIH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111387"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_11199 . obo:DOID_0111388 obo:IAO_0000115 "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:307700"^^xsd:string ; oboInOwl:hasExactSynonym "HYPX"@en, "agenesis of parathyroid glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111388"^^xsd:string ; a owl:Class ; rdfs:label "X-linked hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_11199, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111389 obo:IAO_0000115 "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12560"^^xsd:string, "ICD10CM:E76.02"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C122782"^^xsd:string, "OMIM:607015"^^xsd:string, "ORDO:93476"^^xsd:string, "SNOMEDCT_US_2021_03_01:26745009"^^xsd:string, "UMLS_CUI:C0086431"^^xsd:string ; oboInOwl:hasExactSynonym "MPS1H/S"@en, "MPSIH/S"@en, "Mucopolysaccharidosis type 1H/S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111389"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis Ih/s"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12802, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111390 obo:IAO_0000115 "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12559"^^xsd:string, "ICD10CM:E76.01"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C61261"^^xsd:string, "OMIM:607014"^^xsd:string, "ORDO:93473"^^xsd:string, "SNOMEDCT_US_2021_03_01:65327002"^^xsd:string, "UMLS_CUI:C0086795"^^xsd:string ; oboInOwl:hasExactSynonym "Dysostosis multiplex syndrome"@en, "Hurler disease MPS type 1H"@en, "Hurler-Pfaundler syndrome"@en, "L-iduronidase deficiency, Hurler type"@en, "MPS1-H"@en, "Mucopolysaccharidosis type I severe form"@en, "dysostosis multiplex"@en, "gargoylism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111390"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis Ih"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12802, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111391 obo:IAO_0000115 "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3785"^^xsd:string, "ICD10CM:E76.210"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C84901"^^xsd:string, "OMIM:253000"^^xsd:string, "ORDO:309297"^^xsd:string, "SNOMEDCT_US_2021_03_01:7259005"^^xsd:string, "UMLS_CUI:C0086651"^^xsd:string ; oboInOwl:hasExactSynonym "GALNS deficiency"@en, "MPS IVA"@en, "MPS4A"@en, "Morquio A disease"@en, "Morquio syndrome A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111391"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis IVA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12804, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111392 obo:IAO_0000115 "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.211"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C84902"^^xsd:string, "OMIM:253010"^^xsd:string, "ORDO:309310"^^xsd:string, "SNOMEDCT_US_2021_03_01:254075008"^^xsd:string, "UMLS_CUI:C0086652"^^xsd:string ; oboInOwl:hasExactSynonym "MPS IVB"@en, "MPS4B"@en, "Morquio disease type B"@en, "Morquio syndrome B"@en, "beta-D-galactosidase deficiency"@en, "mucopolysaccharidosis type IVB (Morquio)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111392"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IVB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12804, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111393 obo:IAO_0000115 "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7073"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84899"^^xsd:string, "OMIM:252930"^^xsd:string, "ORDO:79271"^^xsd:string, "SNOMEDCT_US_2021_03_01:75238000"^^xsd:string, "UMLS_CUI:C0086649"^^xsd:string ; oboInOwl:hasExactSynonym "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency"@en, "HGSNAT deficiency"@en, "Heparan-alpha-glucosaminide N-acetyltransferase deficiency"@en, "MPS3C"@en, "MPSIIIC"@en, "Mucopolysaccharidosis type 3C"@en, "Sanfilippo syndrome type C"@en, "mucopolysaccharidosis type IIIC (Sanfilippo C)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111393"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111394 obo:IAO_0000115 "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7072"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84898"^^xsd:string, "OMIM:252920"^^xsd:string, "ORDO:79270"^^xsd:string, "SNOMEDCT_US_2021_03_01:254071004"^^xsd:string, "UMLS_CUI:C0086648"^^xsd:string ; oboInOwl:hasExactSynonym "MPS3B"@en, "MPSIIIB"@en, "Mucopoly-saccharidosis type 3B"@en, "Mucopolysaccharidosis type 3B"@en, "N-acetyl-alpha-glucosaminidase deficiency"@en, "NAGLU deficiency"@en, "Sanfilippo syndrome type B"@en, "mucopolysaccharidosis type IIIB (Sanfilippo B)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111394"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111395 obo:IAO_0000115 "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84897"^^xsd:string, "OMIM:252900"^^xsd:string, "ORDO:79269"^^xsd:string, "SNOMEDCT_US_2021_03_01:254070003"^^xsd:string, "UMLS_CUI:C0086647"^^xsd:string ; oboInOwl:hasExactSynonym "MPS3A"@en, "MPSIIIA"@en, "Sanfilippo syndrome type A"@en, "heparan sulfamidase deficiency"@en, "mucopolysaccharidosis III-A"@en, "mucopolysaccharidosis type 3A"@en, "mucopolysaccharidosis type IIIA (Sanfilippo A)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111395"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111396 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:2000"^^xsd:string, "ORDO:98869"^^xsd:string ; oboInOwl:hasExactSynonym "CDA I"@en, "CDA type 1"@en, "CDA type I"@en, "Congenital dyserythropoietic anaemia type 1"@en, "Congenital dyserythropoietic anemia type 1"@en, "congenital dyserythropoietic anaemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111396"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111397 obo:IAO_0000115 "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000742"^^xsd:string, "OMIM:615631"^^xsd:string, "SNOMEDCT_US_2021_03_01:59548005"^^xsd:string, "UMLS_CUI:C0271933"^^xsd:string ; oboInOwl:hasExactSynonym "CDA, type Ib"@en, "CDAN1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111397"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type Ib"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111396, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111398 obo:IAO_0000115 "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224120"^^xsd:string ; oboInOwl:hasExactSynonym "CDA Ia"@en, "CDAN1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111398"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type Ia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111396, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111399 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2002"^^xsd:string, "MESH:D000742"^^xsd:string, "OMIM:105600"^^xsd:string, "ORDO:98870"^^xsd:string, "SNOMEDCT_US_2021_03_01:26409005"^^xsd:string, "UMLS_CUI:C0271934"^^xsd:string ; oboInOwl:hasExactSynonym "CDA III"@en, "CDA type 3"@en, "CDA type III"@en, "CDAN3"@en, "Congenital dyserythropoietic anaemia type 3"@en, "Congenital dyserythropoietic anemia type 3"@en, "anaemia with multinucleated erythroblasts"@en, "anemia with multinucleated erythroblasts"@en, "congenital dyserythropoietic anaemia type III"@en, "hereditary benign erythroreticulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111399"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type III"^^xsd:string ; rdfs:subClassOf obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111400 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13."^^xsd:string ; oboInOwl:hasDbXref "NCI:C157148"^^xsd:string, "OMIM:613673"^^xsd:string, "ORDO:293825"^^xsd:string, "SNOMEDCT_US_2021_03_01:719453009"^^xsd:string, "UMLS_CUI:C3150926"^^xsd:string ; oboInOwl:hasExactSynonym "CDA IV"@en, "CDA due to KLF1 mutation"@en, "CDA type 4"@en, "CDA type IV"@en, "CDAN4"@en, "Congenital dyserythropoietic anaemia due to KLF1 mutation"@en, "Congenital dyserythropoietic anaemia type 4"@en, "Congenital dyserythropoietic anemia due to KLF1 mutation"@en, "Congenital dyserythropoietic anemia type 4"@en, "congenital dyserythropoietic anaemia type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111400"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111401 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:2001"^^xsd:string, "MESH:D000742"^^xsd:string, "OMIM:224100"^^xsd:string, "ORDO:98873"^^xsd:string, "SNOMEDCT_US_2021_03_01:68870007"^^xsd:string, "UMLS_CUI:C1306589"^^xsd:string ; oboInOwl:hasExactSynonym "CDA II"@en, "CDA type 2"@en, "CDA type II"@en, "CDAN2"@en, "Congenital dyserythropoietic anaemia type 2"@en, "Congenital dyserythropoietic anemia type 2"@en, "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"@en, "SEC23B-CDG"@en, "congenital dyserythropoietic anaemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111401"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111402 obo:IAO_0000115 "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7074"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84900"^^xsd:string, "OMIM:252940"^^xsd:string, "ORDO:79272"^^xsd:string, "SNOMEDCT_US_2021_03_01:15892005"^^xsd:string, "UMLS_CUI:C0086650"^^xsd:string ; oboInOwl:hasExactSynonym "GNS deficiency"@en, "MPS IIID"@en, "MPS3D"@en, "Mucopolysaccharidosis type 3D"@en, "N-acetylglucosamine-6-sulfatase deficiency"@en, "Sanfilippo syndrome D"@en, "Sanfilippo syndrome type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111402"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIID"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111403 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618273"^^xsd:string ; oboInOwl:hasExactSynonym "MCCCHCM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111403"^^xsd:string ; a owl:Class ; rdfs:label "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111404 obo:IAO_0000115 "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:1463"^^xsd:string, "MESH:C000596385"^^xsd:string, "OMIM:217080"^^xsd:string, "ORDO:1873"^^xsd:string, "SNOMEDCT_US_2021_03_01:707608003"^^xsd:string, "UMLS_CUI:C3495589"^^xsd:string ; oboInOwl:hasExactSynonym "Cone rod dystrophy-amelogenesis imperfecta syndrome"@en, "cone-rod dystrophy and amelogenesis imperfecta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111404"^^xsd:string ; a owl:Class ; rdfs:label "Jalili syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111405 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FRAS1 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:219000"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111405"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111406 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617667"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111406"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111407 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617666"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111407"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111408 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613310"^^xsd:string ; oboInOwl:hasExactSynonym "EVR5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111408"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111409 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605750"^^xsd:string ; oboInOwl:hasExactSynonym "EVR3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111409"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111410 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in ZNF408 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616468"^^xsd:string ; oboInOwl:hasExactSynonym "EVR6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111410"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111411 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601813"^^xsd:string ; oboInOwl:hasExactSynonym "EVR4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111411"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050739, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111412 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:133780"^^xsd:string ; oboInOwl:hasExactSynonym "EVR1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111412"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111413 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305390"^^xsd:string ; oboInOwl:hasExactSynonym "EVR2"@en, "EVRX"@en, "FEVRX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111413"^^xsd:string ; a owl:Class ; rdfs:label "X-linked exudative vitreoretinopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111414 obo:IAO_0000115 "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex."^^xsd:string ; oboInOwl:hasDbXref "GARD:5258"^^xsd:string, "MESH:C565627"^^xsd:string, "OMIM:PS222470"^^xsd:string, "ORDO:84064"^^xsd:string, "SNOMEDCT_US_2021_03_01:703406006"^^xsd:string, "UMLS_CUI:C1857276"^^xsd:string ; oboInOwl:hasExactSynonym "SD/THE"@en, "Syndromic diarrhea/Tricho-hepato-enteric syndrome"@en, "THES"@en, "Tricho-hepato-enteric syndrome"@en, "phenotypic diarrhea"@en, "syndromic diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111414"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0111415 obo:IAO_0000115 "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in TTC37 on chromosome5q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:222470"^^xsd:string ; oboInOwl:hasExactSynonym "THES1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111415"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111414 . obo:DOID_0111416 obo:IAO_0000115 "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614602"^^xsd:string ; oboInOwl:hasExactSynonym "THES2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111416"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111414 . obo:DOID_0111417 obo:IAO_0000115 "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia."^^xsd:string ; oboInOwl:hasDbXref "ORDO:444490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111417"^^xsd:string ; a owl:Class ; rdfs:label "familial chylomicronemia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_0111418 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008072"^^xsd:string, "OMIM:207750"^^xsd:string, "ORDO:309020"^^xsd:string, "SNOMEDCT_US_2021_03_01:33513003"^^xsd:string, "UMLS_CUI:C0268199"^^xsd:string, "UMLS_CUI:C1720779"^^xsd:string ; oboInOwl:hasExactSynonym "C-II anapolipoproteinemia"@en, "familial APOC2 deficiency"@en, "familial apoC-II deficiency"@en, "hyperlipoproteinemia, type 1b"@en, "hyperlipoproteinemia, type Ib"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111418"^^xsd:string ; a owl:Class ; rdfs:label "familial apolipoprotein C-II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111419 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:118830"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111419"^^xsd:string ; a owl:Class ; rdfs:label "familial chylomicronemia due to inhibition of lipoprotein lipase activity"^^xsd:string ; rdfs:subClassOf obo:DOID_0111417 . obo:DOID_0111420 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615947"^^xsd:string, "ORDO:535458"^^xsd:string ; oboInOwl:hasExactSynonym "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"@en, "hyperlipoproteinemia type 1D"@en, "hyperlipoproteinemia type ID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111420"^^xsd:string ; a owl:Class ; rdfs:label "familial GPIHBP1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111421 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:144650"^^xsd:string, "ORDO:530849"^^xsd:string ; oboInOwl:hasExactSynonym "familial APOA5 deficiency"@en, "familial apolipoprotein A-V deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111421"^^xsd:string ; a owl:Class ; rdfs:label "familial apolipoprotein A5 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111422 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:246650"^^xsd:string, "ORDO:535453"^^xsd:string ; oboInOwl:hasExactSynonym "LPL and HL deficiency"@en, "LPL and HTGL deficiency"@en, "combined lipase deficiency"@en, "familial LMF1 deficiency"@en, "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111422"^^xsd:string ; a owl:Class ; rdfs:label "familial lipase maturation factor 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111423 obo:IAO_0000115 "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in EYA1 on chromosome 8q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113650"^^xsd:string ; oboInOwl:hasExactSynonym "BOR1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111423"^^xsd:string ; a owl:Class ; rdfs:label "branchiootorenal syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14702 . obo:DOID_0111424 obo:IAO_0000115 "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in SIX5 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610896"^^xsd:string ; oboInOwl:hasExactSynonym "BOR2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111424"^^xsd:string ; a owl:Class ; rdfs:label "branchiootorenal syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14702 . obo:DOID_0111425 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNI3 on chromosome 19q13.42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115210"^^xsd:string ; oboInOwl:hasExactSynonym "RCM1"@en, "familial restrictive cardiomyopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111425"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111426 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609578"^^xsd:string ; oboInOwl:hasExactSynonym "RCM2"@en, "familial restrictive cardiomyopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111426"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111427 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNT2 on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612422"^^xsd:string ; oboInOwl:hasExactSynonym "RCM3"@en, "familial restrictive cardiomyopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111427"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111428 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in DRD3 on chromosome 3q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190300"^^xsd:string ; oboInOwl:hasExactSynonym "ETM1"@en, "hereditary essential tremor 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111428"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111429 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602134"^^xsd:string ; oboInOwl:hasExactSynonym "ETM2"@en, "hereditary essential tremor 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111429"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111430 obo:IAO_0000115 "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611456"^^xsd:string ; oboInOwl:hasExactSynonym "ETM3"@en, "hereditary essential tremor 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111430"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 3"^^xsd:string ; rdfs:subClassOf obo:DOID_4990 . obo:DOID_0111431 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614782"^^xsd:string ; oboInOwl:hasExactSynonym "ETM4"@en, "hereditary essential tremor 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111431"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111432 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616736"^^xsd:string ; oboInOwl:hasExactSynonym "ETM5"@en, "hereditary essential tremor 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111432"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111433 obo:IAO_0000115 "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10203"^^xsd:string, "MESH:C537128"^^xsd:string, "OMIM:165300"^^xsd:string, "ORDO:67036"^^xsd:string, "SNOMEDCT_US_2021_03_01:719517009"^^xsd:string, "UMLS_CUI:C1833809"^^xsd:string ; oboInOwl:hasExactSynonym "ADOAC"@en, "OPA3"@en, "autosomal dominant optic atrophy 3"@en, "autosomal dominant optic atrophy and cataract"@en, "autosomal dominant optic atrophy type 3"@en, "optic atrophy 3 with cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111433"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111434 obo:IAO_0000115 "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616732"^^xsd:string ; oboInOwl:hasExactSynonym "OPA10"@en, "optic atrophy 10 with or without ataxia, mental retardation, and seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111434"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111435 obo:IAO_0000115 "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258500"^^xsd:string ; oboInOwl:hasExactSynonym "OPA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111435"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111436 obo:IAO_0000115 "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617302"^^xsd:string ; oboInOwl:hasExactSynonym "OPA11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111436"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111437 obo:IAO_0000115 "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612989"^^xsd:string ; oboInOwl:hasExactSynonym "OPA7"@en, "optic atrophy 7 with or without auditory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111437"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111438 obo:IAO_0000115 "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610708"^^xsd:string ; oboInOwl:hasExactSynonym "OPA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111438"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111439 obo:IAO_0000115 "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616648"^^xsd:string ; oboInOwl:hasExactSynonym "OPA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111439"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111440 obo:IAO_0000115 "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605293"^^xsd:string ; oboInOwl:hasExactSynonym "OPA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111440"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111441 obo:IAO_0000115 "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:165500"^^xsd:string ; oboInOwl:hasExactSynonym "OPA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111441"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111442 obo:IAO_0000115 "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616289"^^xsd:string ; oboInOwl:hasExactSynonym "OPA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111442"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111443 obo:IAO_0000115 "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:311050"^^xsd:string ; oboInOwl:hasExactSynonym "OPA2"@en, "X-linked optic atrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111443"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_0111444 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020191"^^xsd:string, "OMIM:254900"^^xsd:string, "ORDO:163696"^^xsd:string, "SNOMEDCT_US_2021_03_01:764453009"^^xsd:string, "UMLS_CUI:C0751779"^^xsd:string ; oboInOwl:hasExactSynonym "AMRF"@en, "EPM4"@en, "Myoclonus-nephropathy syndrome"@en, "action myoclonus-renal failure syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111444"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111445 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616640"^^xsd:string, "ORDO:324290"^^xsd:string ; oboInOwl:hasExactSynonym "EPM10"@en, "early-onset Lafora body disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111445"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111446 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2167"^^xsd:string, "MESH:C567095"^^xsd:string, "OMIM:611726"^^xsd:string, "ORDO:263516"^^xsd:string, "UMLS_CUI:C2673257"^^xsd:string ; oboInOwl:hasExactSynonym "CLN14 disease"@en, "EPM3"@en, "PME type 3"@en, "Progressive myoclonic epilepsy due to KCTD7 deficiency"@en, "Progressive myoclonus epilepsy type 3"@en, "neuronal ceroid lipofuscinosis 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111446"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111447 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C142804"^^xsd:string, "OMIM:616187"^^xsd:string, "ORDO:435438"^^xsd:string, "UMLS_CUI:C4015420"^^xsd:string ; oboInOwl:hasExactSynonym "EPM7"@en, "MEAK"@en, "Myoclonus epilepsy and ataxia due to potassium channel mutation"@en, "PME type 7"@en, "Progressive myoclonic epilepsy due to KV3.1 deficiency"@en, "Progressive myoclonus epilepsy type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111447"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111448 obo:IAO_0000115 "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612437"^^xsd:string ; oboInOwl:hasExactSynonym "EPM1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111448"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111449 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:3872"^^xsd:string, "OMIM:614018"^^xsd:string, "ORDO:280620"^^xsd:string ; oboInOwl:hasExactSynonym "EPM6"@en, "GOSR2-related progressive myoclonus ataxia"@en, "North Sea progressive myoclonus epilepsy"@en, "PME type 6"@en, "Progressive myoclonus epilepsy type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111449"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111450 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616540"^^xsd:string, "ORDO:457265"^^xsd:string ; oboInOwl:hasExactSynonym "EMP9"@en, "PME type 9"@en, "progressive myoclonic epilepsy due to LMNB2 deficiency"@en, "progressive myoclonus epilepsy type 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111450"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111451 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616230"^^xsd:string, "ORDO:424027"^^xsd:string ; oboInOwl:hasExactSynonym "EMP8"@en, "PME type 8"@en, "progressive myoclonic epilepsy due to CERS1 deficiency"@en, "progressive myoclonus epilepsy type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111451"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111452 obo:IAO_0000115 "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254800"^^xsd:string ; oboInOwl:hasExactSynonym "EPM1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111452"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111453 obo:IAO_0000115 "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:204750"^^xsd:string, "ORDO:79154"^^xsd:string ; oboInOwl:hasExactSynonym "AMOXAD"@en, "alpha-aminoadipic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111453"^^xsd:string ; a owl:Class ; rdfs:label "2-aminoadipic 2-oxoadipic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111454 obo:IAO_0000115 "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has _material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:7633"^^xsd:string, "MESH:C537327"^^xsd:string, "OMIM:269880"^^xsd:string, "ORDO:3163"^^xsd:string, "UMLS_CUI:C0878684"^^xsd:string ; oboInOwl:hasExactSynonym "Aarskog-Ose-Pande syndrome"@en, "Lipodystrophy-Rieger anomaly-diabetes syndrome"@en, "Rieger anomaly-partial lipodystrophy syndrome"@en, "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111454"^^xsd:string ; a owl:Class ; rdfs:label "SHORT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111455 obo:IAO_0000115 "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:1"^^xsd:string, "MESH:C537934"^^xsd:string, "OMIM:603358"^^xsd:string, "ORDO:53693"^^xsd:string, "SNOMEDCT_US_2021_03_01:703388005"^^xsd:string, "UMLS_CUI:C1864002"^^xsd:string ; oboInOwl:hasExactSynonym "FLNMS"@en, "Fellman disease"@en, "Finnish lactic acidosis with hepatic hemosiderosis"@en, "Finnish lethal neonatal metabolic syndrome"@en, "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en, "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en, "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111455"^^xsd:string ; a owl:Class ; rdfs:label "GRACILE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111456 obo:IAO_0000115 "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3084"^^xsd:string, "MESH:C537013"^^xsd:string, "OMIM:244450"^^xsd:string, "ORDO:2707"^^xsd:string, "SNOMEDCT_US_2021_03_01:722056009"^^xsd:string, "UMLS_CUI:C1855663"^^xsd:string ; oboInOwl:hasExactSynonym "KOS"@en, "blepharophimosis ptosis intellectual disability syndrome"@en, "oculocerebrofacial syndrome, Kaufman type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111456"^^xsd:string ; a owl:Class ; rdfs:label "Kaufman oculocerebrofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111457 obo:IAO_0000115 "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:12357"^^xsd:string, "OMIM:615934"^^xsd:string, "ORDO:425120"^^xsd:string ; oboInOwl:hasExactSynonym "SAVI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111457"^^xsd:string ; a owl:Class ; rdfs:label "STING-associated vasculopathy with onset in infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0111458 obo:IAO_0000115 "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:5392"^^xsd:string, "MESH:D005693"^^xsd:string, "OMIM:230350"^^xsd:string, "ORDO:79238"^^xsd:string, "SNOMEDCT_US_2021_03_01:8849004"^^xsd:string, "UMLS_CUI:C0751161"^^xsd:string ; oboInOwl:hasExactSynonym "GALE deficiency"@en, "GALE-D"@en, "UDP-galactose-4-epimerase deficiency"@en, "epimerase deficiency galactosemia"@en, "galactosemia III"@en, "galactosemia type 3"@en, "uridine diphosphate galactose-4-epimerase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111458"^^xsd:string ; a owl:Class ; rdfs:label "galactose epimerase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111459 obo:IAO_0000115 "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:13639"^^xsd:string, "MESH:D005693"^^xsd:string, "NCI:C99104"^^xsd:string, "OMIM:230400"^^xsd:string, "ORDO:79239"^^xsd:string, "SNOMEDCT_US_2021_03_01:398664009"^^xsd:string, "UMLS_CUI:C0268151"^^xsd:string ; oboInOwl:hasExactSynonym "GALT deficiency"@en, "galactose-1-phosphate uridyltransferase deficiency"@en, "galactosemia type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111459"^^xsd:string ; a owl:Class ; rdfs:label "classic galactosemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111460 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115150"^^xsd:string ; oboInOwl:hasExactSynonym "CFC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111460"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111461 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615278"^^xsd:string ; oboInOwl:hasExactSynonym "CFC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111461"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111462 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAP2K1 on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615279"^^xsd:string ; oboInOwl:hasExactSynonym "CFC3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111462"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111463 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615280"^^xsd:string ; oboInOwl:hasExactSynonym "CFC4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111463"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111464 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617873"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111464"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111465 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615918"^^xsd:string, "ORDO:420733"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111465"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111466 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618378"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111466"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111467 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614932"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111467"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111468 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616430"^^xsd:string, "ORDO:447954"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111468"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111469 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12892"^^xsd:string, "OMIM:615395"^^xsd:string, "ORDO:352563"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD16"@en, "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111469"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111470 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616794"^^xsd:string, "ORDO:466784"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD28"@en, "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111470"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111471 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616974"^^xsd:string, "ORDO:478042"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111471"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111472 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614582"^^xsd:string, "ORDO:319509"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111472"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111473 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611719"^^xsd:string, "ORDO:137908"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD5"@en, "hypotonia with lactic acidemia and hyperammonemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111473"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111474 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563797"^^xsd:string, "NCI:C125663"^^xsd:string, "OMIM:609060"^^xsd:string, "ORDO:137681"^^xsd:string, "UMLS_CUI:C1836797"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD1"@en, "early fatal progressive hepatoencephalopathy"@en, "hepatoencephalopathy due to COXPD1"@en, "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111474"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111475 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618397"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111475"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111476 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615595"^^xsd:string, "ORDO:397593"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD19"@en, "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111476"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111477 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614946"^^xsd:string, "ORDO:319519"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111477"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111478 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615917"^^xsd:string, "ORDO:420728"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111478"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111479 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614096"^^xsd:string, "ORDO:319504"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111479"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111480 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614702"^^xsd:string, "ORDO:314637"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD10"@en, "infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis"@en, "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111480"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111481 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614922"^^xsd:string, "ORDO:324535"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD11"@en, "infantile encephaloneuromyopathy due to mitochondrial translation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111481"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111482 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617950"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111482"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111483 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610498"^^xsd:string, "ORDO:254920"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD2"@en, "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111483"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111484 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615578"^^xsd:string, "ORDO:391348"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD18"@en, "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111484"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111485 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616239"^^xsd:string, "ORDO:444458"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111485"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111486 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566467"^^xsd:string, "OMIM:610505"^^xsd:string, "ORDO:168566"^^xsd:string, "UMLS_CUI:C1864840"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD3"@en, "Fatal mitochondrial disease due to COXPD3"@en, "concentric cardiomyopathy, hypotonia, and lactic acidosis"@en, "encephalomyopathy, respiratory failure, and lactic acidosis"@en, "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111486"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111487 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613559"^^xsd:string, "ORDO:254930"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD7"@en, "severe C12ORF65-related COXPD"@en, "severe C12ORF65-related combined oxidative phosphorylation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111487"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111488 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617228"^^xsd:string, "ORDO:478049"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD31"@en, "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111488"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111489 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616672"^^xsd:string, "ORDO:477774"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111489"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111490 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616539"^^xsd:string, "ORDO:477684"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111490"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111491 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614947"^^xsd:string, "ORDO:319524"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111491"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111492 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617664"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111492"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111493 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13381"^^xsd:string, "OMIM:614924"^^xsd:string, "ORDO:314051"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD12"@en, "LTBL"@en, "leukoencephalopathy with thalamus and brainstem involvement and high lactate"@en, "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111493"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111494 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565690"^^xsd:string, "OMIM:610678"^^xsd:string, "ORDO:254925"^^xsd:string, "UMLS_CUI:C1857682"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111494"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111495 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617713"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111495"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111496 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615440"^^xsd:string, "ORDO:369913"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111496"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111497 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617872"^^xsd:string, "ORDO:457223"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD34"@en, "syndromic sensorineural deafness due to COXPD"@en, "syndromic sensorineural deafness due to combined oxidative phosphorylation defect"@en, "syndromic sensorineural hearing loss due to COXPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111497"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0111498 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616045"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111498"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111499 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618329"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111499"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111500 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616198"^^xsd:string, "ORDO:444013"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111500"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111501 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616811"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111501"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111502 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300816"^^xsd:string, "ORDO:238329"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD6"@en, "Mitochondrial encephalomyopathy due to COXPD6"@en, "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"@en, "severe X-linked mitochondrial encephalomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111502"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060286, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111503 obo:IAO_0000115 "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in TP53 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:151623"^^xsd:string ; oboInOwl:hasExactSynonym "LFS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111503"^^xsd:string ; a owl:Class ; rdfs:label "Li-Fraumeni syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3012 . obo:DOID_0111504 obo:IAO_0000115 "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609265"^^xsd:string ; oboInOwl:hasExactSynonym "LFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111504"^^xsd:string ; a owl:Class ; rdfs:label "Li-Fraumeni syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3012 . obo:DOID_0111505 obo:IAO_0000115 "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3094"^^xsd:string, "MESH:C536152"^^xsd:string, "OMIM:148350"^^xsd:string, "ORDO:2202"^^xsd:string, "SNOMEDCT_US_2021_03_01:722203001"^^xsd:string, "UMLS_CUI:C1835672"^^xsd:string ; oboInOwl:hasExactSynonym "PPK-deafness syndrome"@en, "keratoderma palmoplantar deafness"@en, "palmoplantar hyperkeratosis-deafness syndrome"@en, "palmoplantar hyperkeratosis-hearing loss syndrome"@en, "palmoplantar keratoderma with deafness"@en, "palmoplantar keratoderma-hearing loss syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111505"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111506 obo:IAO_0000115 "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3102"^^xsd:string, "MESH:C536164"^^xsd:string, "OMIM:148500"^^xsd:string, "ORDO:2198"^^xsd:string, "UMLS_CUI:C1835664"^^xsd:string ; oboInOwl:hasExactSynonym "Bennion-Patterson syndrome"@en, "Howell-Evans syndrome"@en, "TOC"@en, "keratosis palmaris et plantaris with esophageal cancer"@en, "keratosis palmoplantaris-esophageal carcinoma syndrome"@en, "palmoplantar hyperkeratosis-esophageal carcinoma syndrome"@en, "palmoplantar keratoderma with esophageal cancer"@en, "tylosis with esophageal cancer"@en, "tylosis-oesophageal carcinoma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111506"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma-esophageal carcinoma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111507 obo:IAO_0000115 "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3223"^^xsd:string, "MESH:C537115"^^xsd:string, "OMIM:151050"^^xsd:string, "ORDO:2658"^^xsd:string, "SNOMEDCT_US_2021_03_01:1393001"^^xsd:string, "UMLS_CUI:C0432269"^^xsd:string ; oboInOwl:hasExactSynonym "Lenz-Majewski syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111507"^^xsd:string ; a owl:Class ; rdfs:label "Lenz-Majewski hyperostotic dwarfism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111508 obo:IAO_0000115 "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4382"^^xsd:string, "MESH:C563627"^^xsd:string, "OMIM:151210"^^xsd:string, "ORDO:85166"^^xsd:string, "UMLS_CUI:C1835437"^^xsd:string ; oboInOwl:hasExactSynonym "PLSD-T"@en, "PLSDT"@en, "lethal short-limbed platyspondylic dwarfism, Torrance type"@en, "platyspondylic dysplasia, Torrance-Luton type"@en, "platyspondylic lethal skeletal dysplasia, Torrance type"@en, "thanatophoric dysplasia, Torrance variant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111508"^^xsd:string ; a owl:Class ; rdfs:label "Torrance type platyspondylic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0111509 obo:IAO_0000115 "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:333"^^xsd:string, "MESH:C537710"^^xsd:string, "NCI:C128191"^^xsd:string, "OMIM:153400"^^xsd:string, "ORDO:33001"^^xsd:string, "SNOMEDCT_US_2021_03_01:8634009"^^xsd:string, "UMLS_CUI:C0265345"^^xsd:string ; oboInOwl:hasExactSynonym "LPHDST"@en, "lymphedema with distichiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111509"^^xsd:string ; a owl:Class ; rdfs:label "lymphedema-distichiasis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111510 obo:IAO_0000115 "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:6984"^^xsd:string, "MESH:C536025"^^xsd:string, "NCI:C128115"^^xsd:string, "OMIM:154780"^^xsd:string, "ORDO:560"^^xsd:string, "SNOMEDCT_US_2021_03_01:33410002"^^xsd:string, "UMLS_CUI:C0265235"^^xsd:string ; oboInOwl:hasExactSynonym "MRSHS"@en, "deafness, myopia, cataract, saddle nose-Marshall type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111510"^^xsd:string ; a owl:Class ; rdfs:label "Marshall syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111511 obo:IAO_0000115 "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8468"^^xsd:string, "MESH:C536149"^^xsd:string, "OMIM:155755"^^xsd:string, "ORDO:252206"^^xsd:string, "SNOMEDCT_US_2021_03_01:717968005"^^xsd:string, "UMLS_CUI:C1835042"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma-astrocytoma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111511"^^xsd:string ; a owl:Class ; rdfs:label "melanoma and neural system tumor syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111512 obo:IAO_0000115 "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3560"^^xsd:string, "MESH:C562938"^^xsd:string, "OMIM:156250"^^xsd:string, "ORDO:2499"^^xsd:string, "SNOMEDCT_US_2021_03_01:205481009"^^xsd:string, "UMLS_CUI:C0410530"^^xsd:string ; oboInOwl:hasExactSynonym "METCDS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111512"^^xsd:string ; a owl:Class ; rdfs:label "metachondromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111513 obo:IAO_0000115 "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3568"^^xsd:string, "OMIM:156510"^^xsd:string, "ORDO:2504"^^xsd:string ; oboInOwl:hasExactSynonym "metaphyseal dysplasia maxillary hypoplasia brachydactyly"@en, "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111513"^^xsd:string ; a owl:Class ; rdfs:label "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111514 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3571"^^xsd:string, "MESH:C537356"^^xsd:string, "NCI:C175209"^^xsd:string, "OMIM:156530"^^xsd:string, "ORDO:2635"^^xsd:string, "SNOMEDCT_US_2021_03_01:22764001"^^xsd:string, "UMLS_CUI:C0265281"^^xsd:string ; oboInOwl:hasExactSynonym "metatropic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111514"^^xsd:string ; a owl:Class ; rdfs:label "metatropic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111515 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616479"^^xsd:string, "ORDO:329336"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB2"@en, "adult-onset CPEO with mitochondrial myopathy"@en, "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"@en, "autosomal recessive progressive external ophthalmoplegia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111515"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111516 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617070"^^xsd:string, "ORDO:329314"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB4"@en, "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"@en, "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency"@en, "autosomal recessive progressive external ophthalmoplegia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111516"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111517 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in SLC25A4 on chromosome 4q35.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609283"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA2"@en, "autosomal dominant progressive external ophthalmoplegia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111517"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111518 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in RRM2B on chromosome 8q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613077"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA5"@en, "autosomal dominant progressive external ophthalmoplegia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111518"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111519 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615156"^^xsd:string, "ORDO:352470"^^xsd:string ; oboInOwl:hasExactSynonym "DNA2-related mitochondrial DNA deletion syndrome"@en, "PEOA6"@en, "autosomal dominant progressive external ophthalmoplegia 6"@en, "mitochondrial DNA deletion syndrome with limb-girdle weakness"@en, "mitochondrial DNA deletion syndrome with progressive myopathy"@en, "mtDNA deletion syndrome with limb-girdle weakness"@en, "mtDNA deletion syndrome with progressive myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111519"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111520 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609286"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA3"@en, "autosomal dominant progressive external ophthalmoplegia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111520"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111521 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:157640"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA1"@en, "autosomal dominant progressive external ophthalmoplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111521"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111522 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258450"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB1"@en, "autosomal recessive progressive external ophthalmoplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111522"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111523 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617069"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB3"@en, "autosomal recessive progressive external ophthalmoplegia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111523"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111524 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618098"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB5"@en, "autosomal recessive progressive external ophthalmoplegia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111524"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111525 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610131"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA4"@en, "autosomal dominant progressive external ophthalmoplegia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111525"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111526 obo:IAO_0000115 "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567186"^^xsd:string, "NCI:C120376"^^xsd:string, "OMIM:158330"^^xsd:string, "ORDO:247768"^^xsd:string, "UMLS_CUI:C2675014"^^xsd:string ; oboInOwl:hasExactSynonym "Mullerian duct failure and hyperandrogenism"@en, "WNT4 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111526"^^xsd:string ; a owl:Class ; rdfs:label "Mullerian aplasia and hyperandrogenism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1923, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111527 obo:IAO_0000115 "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:3044"^^xsd:string, "GARD:3875"^^xsd:string, "MESH:C537563"^^xsd:string, "OMIM:159950"^^xsd:string, "ORDO:2590"^^xsd:string, "SNOMEDCT_US_2021_03_01:703524005"^^xsd:string, "UMLS_CUI:C1834569"^^xsd:string ; oboInOwl:hasExactSynonym "Jankovic-Rivera syndrome"@en, "SMA-PME"@en, "SMAPME"@en, "hereditary myoclonus-progressive distal muscular atrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111527"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with progressive myoclonic epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111528 obo:IAO_0000115 "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3912"^^xsd:string, "MESH:C538331"^^xsd:string, "OMIM:161000"^^xsd:string, "ORDO:69087"^^xsd:string, "SNOMEDCT_US_2021_03_01:239084001"^^xsd:string, "UMLS_CUI:C0343111"^^xsd:string ; oboInOwl:hasExactSynonym "NFJ syndrome"@en, "Naegeli syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111528"^^xsd:string ; a owl:Class ; rdfs:label "Naegeli-Franceschetti-Jadassohn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111529 obo:IAO_0000115 "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover."^^xsd:string ; oboInOwl:hasDbXref "GARD:3986"^^xsd:string, "MESH:C535816"^^xsd:string, "OMIM:163000"^^xsd:string, "ORDO:624"^^xsd:string, "SNOMEDCT_US_2021_03_01:763714006"^^xsd:string, "UMLS_CUI:C2931029"^^xsd:string ; oboInOwl:hasExactSynonym "CMC"@en, "congenital capillary malformations"@en, "familial multiple port-wine stains"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111529"^^xsd:string ; a owl:Class ; rdfs:label "familial multiple nevi flammei"^^xsd:string ; rdfs:subClassOf obo:DOID_1271 . obo:DOID_0111530 obo:IAO_0000115 "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:10291"^^xsd:string, "OMIM:163200"^^xsd:string, "ORDO:2612"^^xsd:string, "SNOMEDCT_US_2021_03_01:707136009"^^xsd:string, "UMLS_CUI:C3854181"^^xsd:string ; oboInOwl:hasExactSynonym "JNP"@en, "Jadassohn nevus phakomatosis"@en, "Nevus sebaceus of Jadassohn"@en, "SFM syndrome"@en, "Schimmelpenning Feuerstein Mims syndrome"@en, "Schimmelpenning syndrome"@en, "Solomon syndrome"@en, "nevus sebaceus of Jadassohn"@en, "nevus sebaceus syndrome"@en, "organoid nevus phakomatosis"@en, "organoid nevus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111530"^^xsd:string ; a owl:Class ; rdfs:label "linear nevus sebaceous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111531 obo:IAO_0000115 "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:8419"^^xsd:string, "ICD10CM:H47.03"^^xsd:string, "ICD9CM:377.43"^^xsd:string, "MESH:D000080344"^^xsd:string, "NCI:C98999"^^xsd:string, "OMIM:165550"^^xsd:string, "ORDO:137902"^^xsd:string, "SNOMEDCT_US_2021_03_01:95499004"^^xsd:string, "UMLS_CUI:C0338502"^^xsd:string ; oboInOwl:hasExactSynonym "ONH"@en, "familial bilateral optic nerve hypoplasia"@en, "isolated optic nerve hypoplasia/aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111531"^^xsd:string ; a owl:Class ; rdfs:label "bilateral optic nerve hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111532 obo:IAO_0000115 "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4142"^^xsd:string, "MESH:C536050"^^xsd:string, "OMIM:166250"^^xsd:string, "ORDO:2645"^^xsd:string, "SNOMEDCT_US_2021_03_01:254144002"^^xsd:string, "UMLS_CUI:C0432283"^^xsd:string ; oboInOwl:hasExactSynonym "Fairbank-Keats syndrome"@en, "OGD"@en, "osteoglophonic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111532"^^xsd:string ; a owl:Class ; rdfs:label "osteoglophonic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111533 obo:IAO_0000115 "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8698"^^xsd:string, "MESH:C536039"^^xsd:string, "OMIM:166260"^^xsd:string, "ORDO:53697"^^xsd:string, "SNOMEDCT_US_2021_03_01:715568002"^^xsd:string, "UMLS_CUI:C1833736"^^xsd:string ; oboInOwl:hasExactSynonym "GDD"@en, "Levin syndrome 2"@en, "gnathodiaphyseal sclerosis"@en, "osteogenesis imperfecta with unusual skeletal lesions"@en, "osteogenesis imperfecta, Levin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111533"^^xsd:string ; a owl:Class ; rdfs:label "gnathodiaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111534 obo:IAO_0000115 "A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:3818"^^xsd:string, "MESH:C567171"^^xsd:string, "OMIM:166300"^^xsd:string, "ORDO:2774"^^xsd:string, "SNOMEDCT_US_2021_03_01:766992008"^^xsd:string, "UMLS_CUI:C2674705"^^xsd:string ; oboInOwl:hasExactSynonym "MCTO"@en, "autosomal dominant multicentric osteolysis"@en, "hereditary osteolysis of carpal bones with or without nephropathy"@en, "idiopathic multicentric osteolysis with or without nephropathy"@en, "multicentric carpo-tarsal osteolysis with or without nephropathy"@en, "multicentric osteolysis nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111534"^^xsd:string ; a owl:Class ; rdfs:label "multicentric carpotarsal osteolysis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111535 obo:IAO_0000115 "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:109"^^xsd:string, "MEDDRA:10048902"^^xsd:string, "MESH:C562735"^^xsd:string, "NCI:C132062"^^xsd:string, "OMIM:166350"^^xsd:string, "ORDO:2762"^^xsd:string, "SNOMEDCT_US_2021_03_01:404074003"^^xsd:string, "UMLS_CUI:C0334041"^^xsd:string ; oboInOwl:hasExactSynonym "POH"@en, "ectopic ossification familial type"@en, "familial ectopic ossification"@en, "osteoma cutis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111535"^^xsd:string ; a owl:Class ; rdfs:label "progressive osseous heteroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111536 obo:IAO_0000115 "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1044"^^xsd:string, "MESH:C537415"^^xsd:string, "OMIM:166700"^^xsd:string, "ORDO:1306"^^xsd:string, "SNOMEDCT_US_2021_03_01:60399005"^^xsd:string, "UMLS_CUI:C0265514"^^xsd:string ; oboInOwl:hasExactSynonym "BOS"@en, "dermatofibrosis lenticularis disseminata with osteopoikilosis"@en, "dermatoosteopoikilosis"@en, "disseminated dermatofibrosis with osteopoikilosis"@en, "osteopathia condensans disseminata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111536"^^xsd:string ; a owl:Class ; rdfs:label "Buschke-Ollendorff syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111537 obo:IAO_0000115 "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12854"^^xsd:string, "MESH:C563475"^^xsd:string, "NCI:C125385"^^xsd:string, "OMIM:167400"^^xsd:string, "ORDO:46348"^^xsd:string, "SNOMEDCT_US_2021_03_01:699190008"^^xsd:string, "UMLS_CUI:C1833661"^^xsd:string ; oboInOwl:hasExactSynonym "PEPD"@en, "PEXPD"@en, "familial rectal pain"@en, "submandibular, ocular and rectal pain with flushing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111537"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal extreme pain disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111538 obo:IAO_0000115 "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7325"^^xsd:string, "ICD10CM:G71.19"^^xsd:string, "MESH:D020967"^^xsd:string, "NCI:C122790"^^xsd:string, "OMIM:168300"^^xsd:string, "ORDO:684"^^xsd:string, "SNOMEDCT_US_2021_03_01:41574007"^^xsd:string, "UMLS_CUI:C0221055"^^xsd:string ; oboInOwl:hasExactSynonym "Eulenburg disease"@en, "PMC"@en, "Von Eulenburg paramyotonia congenita"@en, "myotonia congenita intermittens"@en, "paralysis periodica paramyotonica"@en, "paramyotonia congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111538"^^xsd:string ; a owl:Class ; rdfs:label "paramyotonia congenita of Von Eulenburg"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111539 obo:IAO_0000115 "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4222"^^xsd:string, "MESH:C537172"^^xsd:string, "OMIM:168400"^^xsd:string, "ORDO:2646"^^xsd:string, "SNOMEDCT_US_2021_03_01:722210007"^^xsd:string, "UMLS_CUI:C1868616"^^xsd:string ; oboInOwl:hasExactSynonym "parastremmatic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111539"^^xsd:string ; a owl:Class ; rdfs:label "parastremmatic dwarfism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111540 obo:IAO_0000115 "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:7473"^^xsd:string, "MESH:D056732"^^xsd:string, "NCI:C85029"^^xsd:string, "OMIM:170100"^^xsd:string, "ORDO:742"^^xsd:string, "SNOMEDCT_US_2021_03_01:360994007"^^xsd:string, "UMLS_CUI:C0268532"^^xsd:string ; oboInOwl:hasExactSynonym "hyperimidodipeptiduria"@en, "imidodipeptidase deficiency"@en, "peptidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111540"^^xsd:string ; a owl:Class ; rdfs:label "prolidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111541 obo:IAO_0000115 "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566801"^^xsd:string, "OMIM:172870"^^xsd:string, "ORDO:251295"^^xsd:string, "SNOMEDCT_US_2021_03_01:723450004"^^xsd:string, "UMLS_CUI:C1868310"^^xsd:string ; oboInOwl:hasExactSynonym "PPRCA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111541"^^xsd:string ; a owl:Class ; rdfs:label "pigmented paravenous chorioretinal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111542 obo:IAO_0000115 "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9168"^^xsd:string, "MESH:C536335"^^xsd:string, "OMIM:174810"^^xsd:string, "ORDO:85195"^^xsd:string, "SNOMEDCT_US_2021_03_01:254153009"^^xsd:string, "UMLS_CUI:C0432292"^^xsd:string ; oboInOwl:hasExactSynonym "FEO"@en, "McCabe disease"@en, "hereditary expansile polyostotic osteolytic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111542"^^xsd:string ; a owl:Class ; rdfs:label "familial expansile osteolysis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080005, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111543 obo:IAO_0000115 "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175050"^^xsd:string ; oboInOwl:hasExactSynonym "JP-HHT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111543"^^xsd:string ; a owl:Class ; rdfs:label "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111544 obo:IAO_0000115 "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4470"^^xsd:string, "MESH:C538278"^^xsd:string, "OMIM:176305"^^xsd:string, "ORDO:2957"^^xsd:string, "SNOMEDCT_US_2021_03_01:722452004"^^xsd:string, "UMLS_CUI:C1867801"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias"@en, "preaxial deficiency-postaxial polydactyly-hypospadias syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111544"^^xsd:string ; a owl:Class ; rdfs:label "Guttmacher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111545 obo:IAO_0000115 "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4475"^^xsd:string, "MESH:C536961"^^xsd:string, "MESH:D011629"^^xsd:string, "OMIM:176410"^^xsd:string, "ORDO:3000"^^xsd:string, "SNOMEDCT_US_2021_03_01:237818003"^^xsd:string, "UMLS_CUI:C0342549"^^xsd:string, "UMLS_CUI:C1504412"^^xsd:string ; oboInOwl:hasExactSynonym "FMPP"@en, "familial gonadotropin-independent male-limited sexual precocity"@en, "male-limited precocious puberty"@en, "testotoxicosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111545"^^xsd:string ; a owl:Class ; rdfs:label "familial male-limited precocious puberty"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_28, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111546 obo:IAO_0000115 "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1626"^^xsd:string, "MESH:C536221"^^xsd:string, "OMIM:176450"^^xsd:string, "ORDO:1552"^^xsd:string, "SNOMEDCT_US_2021_03_01:413936007"^^xsd:string, "UMLS_CUI:C1531773"^^xsd:string ; oboInOwl:hasExactSynonym "Currarino triad"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111546"^^xsd:string ; a owl:Class ; rdfs:label "Currarino syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111547 obo:IAO_0000115 "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:180000"^^xsd:string, "ORDO:75326"^^xsd:string ; oboInOwl:hasExactSynonym "RATOR"@en, "retinal arteriolar tortuosity"@en, "retinal hemorrhage with vascular tortuosity"@en, "tortuosity of retinal arteries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111547"^^xsd:string ; a owl:Class ; rdfs:label "retinal arterial tortuosity"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111548 obo:IAO_0000115 "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:9696"^^xsd:string, "MESH:C535684"^^xsd:string, "OMIM:180550"^^xsd:string, "ORDO:91481"^^xsd:string, "SNOMEDCT_US_2021_03_01:723499000"^^xsd:string, "UMLS_CUI:C1867155"^^xsd:string ; oboInOwl:hasExactSynonym "RDC"@en, "ring dermoid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111548"^^xsd:string ; a owl:Class ; rdfs:label "ring dermoid of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10124, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111549 obo:IAO_0000115 "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:750.21"^^xsd:string, "MESH:C562407"^^xsd:string, "OMIM:180920"^^xsd:string, "ORDO:86815"^^xsd:string, "SNOMEDCT_US_2021_03_01:715656004"^^xsd:string, "UMLS_CUI:C0158667"^^xsd:string ; oboInOwl:hasExactSynonym "ALSG"@en, "congenital absence of lacrimal puncta and salivary glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111549"^^xsd:string ; a owl:Class ; rdfs:label "aplasia of lacrimal and salivary glands"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111550 obo:IAO_0000115 "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:159"^^xsd:string, "MESH:C536623"^^xsd:string, "OMIM:181270"^^xsd:string, "ORDO:2036"^^xsd:string, "SNOMEDCT_US_2021_03_01:721888002"^^xsd:string, "UMLS_CUI:C1867020"^^xsd:string ; oboInOwl:hasExactSynonym "Finlay-Marks syndrome"@en, "SENS"@en, "Sen Syndrome"@en, "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111550"^^xsd:string ; a owl:Class ; rdfs:label "scalp-ear-nipple syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111551 obo:IAO_0000115 "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:10312"^^xsd:string, "MESH:C566695"^^xsd:string, "OMIM:181400"^^xsd:string, "ORDO:85146"^^xsd:string, "UMLS_CUI:C1867005"^^xsd:string ; oboInOwl:hasExactSynonym "Kaeser syndrome"@en, "Stark-Kaeser syndrome"@en, "scapuloperoneal syndrome type Kaeser"@en, "scapuloperoneal syndrome, neurogenic, Kaeser type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111551"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic scapuloperoneal syndrome Kaeser type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111552 obo:IAO_0000115 "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10314"^^xsd:string, "ICD10CM:G12.1"^^xsd:string, "MESH:D009134"^^xsd:string, "OMIM:181405"^^xsd:string, "ORDO:431255"^^xsd:string, "SNOMEDCT_US_2021_03_01:230248006"^^xsd:string, "UMLS_CUI:C0751335"^^xsd:string ; oboInOwl:hasExactSynonym "SPSMA"@en, "neurogenic scapuloperoneal amyotrophy, New England type"@en, "scapuloperoneal neuronopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111552"^^xsd:string ; a owl:Class ; rdfs:label "scapuloperoneal spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_231, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111553 obo:IAO_0000115 "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:994"^^xsd:string, "OMIM:184095"^^xsd:string, "ORDO:263482"^^xsd:string, "SNOMEDCT_US_2021_03_01:719204007"^^xsd:string, "UMLS_CUI:C3159322"^^xsd:string ; oboInOwl:hasExactSynonym "Brachyolmia Type 2"@en, "Pseudo-Morquio syndrome type 2"@en, "SED, Maroteaux type"@en, "spondyloepiphyseal dysplasia of Maroteaux"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111553"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Maroteaux type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111554 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3047"^^xsd:string, "MESH:C535797"^^xsd:string, "OMIM:184252"^^xsd:string, "ORDO:93314"^^xsd:string, "SNOMEDCT_US_2021_03_01:254077000"^^xsd:string, "UMLS_CUI:C0265280"^^xsd:string ; oboInOwl:hasExactSynonym "Jequier Kozlowski skeletal dysplasia"@en, "Jequier-Kozlowski syndrome"@en, "SMD Kozlowski type"@en, "dysmorphism arthrogryposis skeletal maturation advanced"@en, "skeletal dysplasia Jequier-Kozlowski type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111554"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Kozlowski type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111555 obo:IAO_0000115 "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617822"^^xsd:string ; oboInOwl:hasExactSynonym "ALKKUCS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111555"^^xsd:string ; a owl:Class ; rdfs:label "Alkuraya-Kucinskas syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111556 obo:IAO_0000115 "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5003"^^xsd:string, "OMIM:184500"^^xsd:string, "ORDO:841"^^xsd:string ; oboInOwl:hasExactSynonym "multiple sebaceous cysts"@en, "sebocystomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111556"^^xsd:string ; a owl:Class ; rdfs:label "steatocystoma multiplex"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9098, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111557 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617087"^^xsd:string, "ORDO:90118"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2, Ouvrier type"@en, "CMT2A2B"@en, "Charcot-Marie-Tooth disease, axonal, type 2A2B"@en, "SEOAN due to MFN2 deficiency"@en, "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"@en, "severe early-onset axonal neuropathy due to MFN2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111557"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111558 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618036"^^xsd:string, "ORDO:521414"^^xsd:string ; oboInOwl:hasExactSynonym "ATP1A1-related CMT2"@en, "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2"@en, "CMT2DD"@en, "Charcot-Marie-Tooth disease, axonal, type 2DD"@en, "Charcot-Marie-Tooth neuropathy, type 2DD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111558"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2DD"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111559 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618400"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2EE"@en, "Charcot-Marie-Tooth disease, axonal, type 2EE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111559"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2EE"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111560 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618279"^^xsd:string, "ORDO:476394"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1G"@en, "PMP2-related CMT1"@en, "PMP2-related Charcot-Marie-Tooth disease type 1"@en, "PMP2-related Charcot-Marie-Tooth neuropathy type 1"@en, "PMP2-related hereditary motor and sensory neuropathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111560"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111561 obo:IAO_0000115 "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5025"^^xsd:string, "MESH:C566112"^^xsd:string, "NCI:C118636"^^xsd:string, "OMIM:184900"^^xsd:string, "ORDO:2833"^^xsd:string, "SNOMEDCT_US_2021_03_01:765187004"^^xsd:string, "UMLS_CUI:C1861456"^^xsd:string ; oboInOwl:hasExactSynonym "SSKS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111561"^^xsd:string ; a owl:Class ; rdfs:label "stiff skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111562 obo:IAO_0000115 "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4183"^^xsd:string, "OMIM:185000"^^xsd:string, "ORDO:3203"^^xsd:string ; oboInOwl:hasExactSynonym "OHS"@en, "potassium sodium disorder of erythrocyte"@en, "stomatocytosisIOHST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111562"^^xsd:string ; a owl:Class ; rdfs:label "overhydrated hereditary stomatocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111563 obo:IAO_0000115 "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7706"^^xsd:string, "ICD10CM:Q85.8"^^xsd:string, "MESH:D013341"^^xsd:string, "NCI:C3391"^^xsd:string, "OMIM:185300"^^xsd:string, "ORDO:3205"^^xsd:string, "SNOMEDCT_US_2021_03_01:157030004"^^xsd:string, "UMLS_CUI:C0038505"^^xsd:string ; oboInOwl:hasExactSynonym "SWS"@en, "Sturge-Weber-Dimitri syndrome"@en, "Sturge-Weber-Krabbe angiomatosis"@en, "Sturge-Weber-Krabbe syndrome"@en, "encephalofacial angiomatosis"@en, "encephalotrigeminal angiomatosis"@en, "fourth phacomatosis"@en, "leptomeningeal angiomatosis"@en, "meningeal capillary angiomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111563"^^xsd:string ; a owl:Class ; rdfs:label "Sturge-Weber syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_0111564 obo:IAO_0000115 "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8309"^^xsd:string, "MESH:C535564"^^xsd:string, "OMIM:188740"^^xsd:string, "ORDO:3332"^^xsd:string, "ORDO:988"^^xsd:string, "UMLS_CUI:C1861099"^^xsd:string ; oboInOwl:hasExactSynonym "Werner mesomelic syndrome"@en, "absence of tibia with polydactyly"@en, "absent tibia-polydactyly syndrome"@en, "hypoplastic tibiae-postaxial polydactyly syndrome"@en, "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111564"^^xsd:string ; a owl:Class ; rdfs:label "hypoplastic or aplastic tibia with polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111565 obo:IAO_0000115 "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:7799"^^xsd:string, "MESH:C536549"^^xsd:string, "OMIM:190320"^^xsd:string, "ORDO:3352"^^xsd:string, "SNOMEDCT_US_2021_03_01:38993008"^^xsd:string, "UMLS_CUI:C0265333"^^xsd:string ; oboInOwl:hasExactSynonym "TDO syndrome"@en, "tricho-dento-osseous syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111565"^^xsd:string ; a owl:Class ; rdfs:label "trichodontoosseous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111566 obo:IAO_0000115 "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190330"^^xsd:string, "ORDO:411788"^^xsd:string ; oboInOwl:hasExactSynonym "TCMGLY"@en, "long eyelashes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111566"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated trichomegaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111567 obo:IAO_0000115 "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1217"^^xsd:string, "MESH:C566007"^^xsd:string, "OMIM:192315"^^xsd:string, "ORDO:247691"^^xsd:string, "SNOMEDCT_US_2021_03_01:783787000"^^xsd:string, "UMLS_CUI:C1860518"^^xsd:string ; oboInOwl:hasExactSynonym "CRV"@en, "RVCL"@en, "RVCL-S"@en, "hereditary cerebroretinal vasculopathy"@en, "retinal vasculopathy and cerebral leukoencephalopathy"@en, "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"@en, "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111567"^^xsd:string ; a owl:Class ; rdfs:label "retinal vasculopathy with cerebral leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111568 obo:IAO_0000115 "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5488"^^xsd:string, "MEDDRA:10066242"^^xsd:string, "MESH:D005413"^^xsd:string, "OMIM:192950"^^xsd:string, "ORDO:178382"^^xsd:string, "SNOMEDCT_US_2021_03_01:205359003"^^xsd:string, "UMLS_CUI:C0240912"^^xsd:string ; oboInOwl:hasExactSynonym "CVT"@en, "congenital convex foot"@en, "congenital convex pes valgus"@en, "congenital rocker-bottom foot"@en, "rocker-bottom foot deformity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111568"^^xsd:string ; a owl:Class ; rdfs:label "congenital vertical talus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111569 obo:IAO_0000115 "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5507"^^xsd:string, "MESH:C536352"^^xsd:string, "OMIM:193220"^^xsd:string, "ORDO:3086"^^xsd:string, "SNOMEDCT_US_2021_03_01:711162004"^^xsd:string, "UMLS_CUI:C3888099"^^xsd:string ; oboInOwl:hasExactSynonym "ADVIRC"@en, "VRCP autosomal dominant"@en, "vitreoretinochoroidopathy dominant"@en, "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract"@en, "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111569"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant vitreoretinochoroidopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111570 obo:IAO_0000115 "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9706"^^xsd:string, "MESH:C536677"^^xsd:string, "OMIM:193230"^^xsd:string, "ORDO:91496"^^xsd:string, "UMLS_CUI:C1860405"^^xsd:string ; oboInOwl:hasExactSynonym "SVD"@en, "vitreoretinal degeneration, snowflake type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111570"^^xsd:string ; a owl:Class ; rdfs:label "snowflake vitreoretinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9799, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111571 obo:IAO_0000115 "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:497"^^xsd:string, "MESH:C536695"^^xsd:string, "OMIM:193530"^^xsd:string, "ORDO:952"^^xsd:string, "SNOMEDCT_US_2021_03_01:277807007"^^xsd:string, "UMLS_CUI:C0457013"^^xsd:string ; oboInOwl:hasExactSynonym "Curry-Hall syndrome"@en, "WAD"@en, "Weyers acrodental dysostosis"@en, "acrofacial dysostosis, Weyers type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111571"^^xsd:string ; a owl:Class ; rdfs:label "Weyers acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060379, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111572 obo:IAO_0000115 "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends."^^xsd:string ; oboInOwl:hasDbXref "GARD:5597"^^xsd:string, "ORDO:170"^^xsd:string, "SNOMEDCT_US_2020_03_01:52564001"^^xsd:string ; oboInOwl:hasExactSynonym "familial wooly hair syndrome"@en, "hereditary woolly hair syndrome"@en, "hereditary wooly hair syndrome"@en, "woolly hair"@en, "wooly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111572"^^xsd:string ; a owl:Class ; rdfs:label "familial woolly hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_421 . obo:DOID_0111573 obo:IAO_0000115 "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:194300"^^xsd:string ; oboInOwl:hasExactSynonym "ADWH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111573"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant woolly hair"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111572, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111574 obo:IAO_0000115 "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616760"^^xsd:string ; oboInOwl:hasExactSynonym "ARWH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111574"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive woolly hair 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111572, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111575 obo:IAO_0000115 "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5623"^^xsd:string, "MESH:C536764"^^xsd:string, "ORDO:3202"^^xsd:string, "SNOMEDCT_US_2021_03_01:87994004"^^xsd:string, "UMLS_CUI:C0272051"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary desiccytosis"@en, "hereditary xerocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111575"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_583 . obo:DOID_0111576 obo:IAO_0000115 "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:194380"^^xsd:string ; oboInOwl:hasExactSynonym "PSHK1"@en, "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema"@en, "pseudohyperkalemia edinburgh"@en, "pseudohyperkalemia familial 1, due to red cell leak"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111576"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111575, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111577 obo:IAO_0000115 "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616689"^^xsd:string ; oboInOwl:hasExactSynonym "desiccytosis Gardos"@en, "xerocytosis Gardos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111577"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111575, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111578 obo:IAO_0000115 "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:13"^^xsd:string, "MESH:C536370"^^xsd:string, "OMIM:206700"^^xsd:string, "ORDO:1065"^^xsd:string, "SNOMEDCT_US_2021_03_01:253176002"^^xsd:string, "UMLS_CUI:C0431401"^^xsd:string ; oboInOwl:hasExactSynonym "GLSP"@en, "aniridia, cerebellar ataxia and mental deficiency"@en, "aniridia-cerebellar ataxia-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111578"^^xsd:string ; a owl:Class ; rdfs:label "Gillespie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111579 obo:IAO_0000115 "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208550"^^xsd:string ; oboInOwl:hasExactSynonym "ASA triad"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111579"^^xsd:string ; a owl:Class ; rdfs:label "asthma, nasal polyps, and aspirin intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 . obo:DOID_0111580 obo:IAO_0000115 "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:849"^^xsd:string, "MESH:C537669"^^xsd:string, "OMIM:210000"^^xsd:string, "SNOMEDCT_US_2021_03_01:66988006"^^xsd:string, "UMLS_CUI:C0221061"^^xsd:string ; oboInOwl:hasExactSynonym "Abortive cerebellar ataxia (BEHRS)"@en, "BEHRS"@en, "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss"@en, "optic atrophy, infantile hereditary, Behr complicated form of"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111580"^^xsd:string ; a owl:Class ; rdfs:label "Behr syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111581 obo:IAO_0000115 "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5978"^^xsd:string, "MESH:C537418"^^xsd:string, "OMIM:211750"^^xsd:string, "ORDO:1308"^^xsd:string, "SNOMEDCT_US_2021_03_01:715409005"^^xsd:string, "UMLS_CUI:C0796095"^^xsd:string ; oboInOwl:hasExactSynonym "OTCS"@en, "Opitz C trigonocephaly"@en, "Opitz trigonocephaly C syndrome"@en, "Opitz trigonocephaly syndrome"@en, "trigonocephaly C syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111581"^^xsd:string ; a owl:Class ; rdfs:label "C syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111582 obo:IAO_0000115 "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10762"^^xsd:string, "OMIM:211800"^^xsd:string, "ORDO:289601"^^xsd:string ; oboInOwl:hasExactSynonym "CALJA"@en, "arterial calcification and distal joint calcification"@en, "arterial calcification due to CD73 deficiency"@en, "arterial calcification due to deficiency of CD73:ACDC"@en, "calcification of joints and arteries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111582"^^xsd:string ; a owl:Class ; rdfs:label "hereditary arterial and articular multiple calcification syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111583 obo:IAO_0000115 "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in CPN1 on chromosome 10q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562876"^^xsd:string, "NCI:C132196"^^xsd:string, "OMIM:212070"^^xsd:string, "SNOMEDCT_US_2021_03_01:234627009"^^xsd:string, "UMLS_CUI:C0398782"^^xsd:string ; oboInOwl:hasExactSynonym "anaphylotoxin inactivator deficiency"@en, "deficiency of carboxypeptidase B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111583"^^xsd:string ; a owl:Class ; rdfs:label "carboxypeptidase N deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2345, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111584 obo:IAO_0000115 "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:3373"^^xsd:string, "MESH:C535580"^^xsd:string, "MESH:C535703"^^xsd:string, "NCI:C174217"^^xsd:string, "OMIM:212112"^^xsd:string, "ORDO:2229"^^xsd:string, "SNOMEDCT_US_2021_03_01:719451006"^^xsd:string, "UMLS_CUI:C0796031"^^xsd:string, "UMLS_CUI:C0796083"^^xsd:string ; oboInOwl:hasExactSynonym "Malouf syndrome"@en, "Najjar syndrome"@en, "cardiogenital syndrome"@en, "cardiomyopathy eith primary testicular failure"@en, "congestive cardiomyopathy with hypergonadotropic hypogonadism"@en, "dilated cardiomyopathy with hypergonadotropic hypogonadism"@en, "dilated cardiomyopathy with premature ovarian failure"@en, "genital anomaly with cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111584"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111585 obo:IAO_0000115 "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1123"^^xsd:string, "MESH:C562812"^^xsd:string, "NCI:C133086"^^xsd:string, "OMIM:212138"^^xsd:string, "ORDO:159"^^xsd:string, "SNOMEDCT_US_2021_03_01:238003000"^^xsd:string, "UMLS_CUI:C0342791"^^xsd:string ; oboInOwl:hasExactSynonym "CACT deficiency"@en, "CACTD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111585"^^xsd:string ; a owl:Class ; rdfs:label "carnitine-acylcarnitine translocase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111586 obo:IAO_0000115 "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "GARD:3406"^^xsd:string, "MESH:C536028"^^xsd:string, "OMIM:212720"^^xsd:string, "ORDO:1387"^^xsd:string, "SNOMEDCT_US_2021_03_01:722380003"^^xsd:string, "UMLS_CUI:C0796037"^^xsd:string ; oboInOwl:hasExactSynonym "cataract-intellectual disability-hypogonadism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111586"^^xsd:string ; a owl:Class ; rdfs:label "Martsolf syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111587 obo:IAO_0000115 "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565870"^^xsd:string, "OMIM:212840"^^xsd:string, "ORDO:1173"^^xsd:string, "UMLS_CUI:C1859305"^^xsd:string ; oboInOwl:hasExactSynonym "CAHH"@en, "GDHS"@en, "LHRH deficiency and ataxia"@en, "cerebellar ataxia-hypogonadism syndrome"@en, "luteinizing hormone-releasing hormone deficiency with ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111587"^^xsd:string ; a owl:Class ; rdfs:label "Gordon Holmes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111588 obo:IAO_0000115 "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:8754"^^xsd:string, "MESH:C535858"^^xsd:string, "OMIM:215140"^^xsd:string, "ORDO:1426"^^xsd:string, "SNOMEDCT_US_2021_03_01:389261002"^^xsd:string, "UMLS_CUI:C2931048"^^xsd:string ; oboInOwl:hasExactSynonym "GRBGD"@en, "Greenberg skeletal dysplasia"@en, "HEM dysplasia"@en, "Skeletal dysplasia, Greenberg type"@en, "autosomal recessive lethal chondrodystrophy with congenital hydrops"@en, "hydrops, ectopic calcification, moth-eaten skeletal dysplasia"@en, "hydrops-ectopic calcification-motheaten syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111588"^^xsd:string ; a owl:Class ; rdfs:label "Greenberg dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111589 obo:IAO_0000115 "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."^^xsd:string ; oboInOwl:hasDbXref "GARD:1410"^^xsd:string, "MESH:C536430"^^xsd:string, "OMIM:216360"^^xsd:string, "ORDO:1454"^^xsd:string, "SNOMEDCT_US_2021_03_01:721847002"^^xsd:string, "UMLS_CUI:C1857662"^^xsd:string ; oboInOwl:hasExactSynonym "Gentile syndrome"@en, "JS-H"@en, "Joubert syndrome with congenital hepatic fibrosis"@en, "Joubert syndrome with hepatic defect"@en, "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111589"^^xsd:string ; a owl:Class ; rdfs:label "COACH syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111590 obo:IAO_0000115 "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:6126"^^xsd:string, "MEDDRA:10049066"^^xsd:string, "MESH:C536438"^^xsd:string, "OMIM:216550"^^xsd:string, "ORDO:193"^^xsd:string, "SNOMEDCT_US_2021_03_01:56604005"^^xsd:string, "UMLS_CUI:C0265223"^^xsd:string ; oboInOwl:hasExactSynonym "COH1"@en, "Hypotonia, obesity, and prominent incisors"@en, "Pepper syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111590"^^xsd:string ; a owl:Class ; rdfs:label "Cohen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111591 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:4166"^^xsd:string, "MESH:C535849"^^xsd:string, "OMIM:217085"^^xsd:string, "ORDO:1338"^^xsd:string, "SNOMEDCT_US_2021_03_01:783738002"^^xsd:string, "UMLS_CUI:C2931046"^^xsd:string ; oboInOwl:hasExactSynonym "CHDTHP"@en, "Ostravik-Lindemann-Solberg syndrome"@en, "heart defect-tongue hamartoma-polysyndactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111591"^^xsd:string ; a owl:Class ; rdfs:label "congenital heart defects, hamartomas of tongue, and polysyndactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111592 obo:IAO_0000115 "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:4380"^^xsd:string, "ICD10CM:E88.02"^^xsd:string, "MESH:C566897"^^xsd:string, "MESH:C580017"^^xsd:string, "OMIM:217090"^^xsd:string, "ORDO:722"^^xsd:string, "SNOMEDCT_US_2021_03_01:95840007"^^xsd:string, "SNOMEDCT_US_2021_03_01:95844003"^^xsd:string, "UMLS_CUI:C0398621"^^xsd:string, "UMLS_CUI:C1968804"^^xsd:string ; oboInOwl:hasExactSynonym "hypoplasminogenemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111592"^^xsd:string ; a owl:Class ; rdfs:label "plasminogen deficiency type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111593 obo:IAO_0000115 "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566069"^^xsd:string, "OMIM:187370"^^xsd:string, "ORDO:251515"^^xsd:string ; oboInOwl:hasExactSynonym "DA10"@en, "plantar flexion contracture"@en, "short Achilles tendon"@en, "short tendo calcaneus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111593"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111594 obo:IAO_0000115 "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615065"^^xsd:string, "ORDO:329457"^^xsd:string, "SNOMEDCT_US_2020_03_01:773396009"^^xsd:string ; oboInOwl:hasExactSynonym "DA5D"@en, "distal arthrogryposis type 5 without ophthalmoparesis"@en, "distal arthrogryposis type 5 without ophthalmoplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111594"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 5D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111595 obo:IAO_0000115 "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536211"^^xsd:string, "NCI:C129865"^^xsd:string, "OMIM:121050"^^xsd:string, "ORDO:115"^^xsd:string, "SNOMEDCT_US_2021_03_01:205821003"^^xsd:string, "UMLS_CUI:C0220668"^^xsd:string ; oboInOwl:hasExactSynonym "Beals syndrome"@en, "Beals-Hecht syndrome"@en, "CCA"@en, "arachnodactyly, contractural Beals type"@en, "contractures, multiple with arachnodactyly"@en, "distal arthrogryposis type 9"@en, "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111595"^^xsd:string ; a owl:Class ; rdfs:label "congenital contractural arachnodactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111596 obo:IAO_0000115 "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies."^^xsd:string ; oboInOwl:hasDbXref "GARD:787"^^xsd:string, "MESH:C565097"^^xsd:string, "OMIM:126050"^^xsd:string, "ORDO:1146"^^xsd:string, "SNOMEDCT_US_2020_03_01:715314008"^^xsd:string ; oboInOwl:hasExactSynonym "DA1"@en, "digitotalar dysmorphism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111596"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111597 obo:IAO_0000115 "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in TPM2 on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535378"^^xsd:string, "OMIM:108120"^^xsd:string ; oboInOwl:hasExactSynonym "DA1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111597"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111598 obo:IAO_0000115 "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614335"^^xsd:string ; oboInOwl:hasExactSynonym "DA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111598"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111599 obo:IAO_0000115 "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538400"^^xsd:string, "ORDO:1147"^^xsd:string, "SNOMEDCT_US_2020_03_01:715216008"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B"@en, "Freeman-Sheldon syndrome variant"@en, "Sheldon-Hall syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111599"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111600 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601680"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111600"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111601 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNT3 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618435"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111601"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111602 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618436"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B3"@en, "distal arthrogryposis type 2B3 (Sheldon-Hall)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111602"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111603 obo:IAO_0000115 "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2621"^^xsd:string, "MESH:C535857"^^xsd:string, "OMIM:121070"^^xsd:string, "OMIM:158300"^^xsd:string, "ORDO:3377"^^xsd:string, "SNOMEDCT_US_2020_03_01:8757006"^^xsd:string ; oboInOwl:hasExactSynonym "DA7"@en, "Dutch-Kentucky syndrome"@en, "Hecht syndrome"@en, "Hecht-Beals syndrome"@en, "mouth, inability to completely open, and short finger-flexor tendons"@en, "trismus-pseudocamptodactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111603"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111604 obo:IAO_0000115 "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:C535483"^^xsd:string, "NCI:C98931"^^xsd:string, "OMIM:193700"^^xsd:string, "ORDO:2053"^^xsd:string, "SNOMEDCT_US_2020_03_01:205799002"^^xsd:string ; oboInOwl:hasExactSynonym "craniocarpotarsal dysplasia"@en, "craniocarpotarsal dystrophy"@en, "whistling face syndrome"@en, "whistling face-windmill vane hand syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111604"^^xsd:string ; a owl:Class ; rdfs:label "Freeman-Sheldon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111605 obo:IAO_0000115 "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:193700"^^xsd:string ; oboInOwl:hasExactSynonym "DA2A"@en, "distal arthrogryposis type 2A (Freeman-Sheldon)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111605"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111606 obo:IAO_0000115 "A Freeman-Sheldon syndrome that has autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:100024"^^xsd:string, "OMIM:277720"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111606"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Whistling face syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111607 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2553"^^xsd:string, "MESH:C537288"^^xsd:string, "OMIM:114300"^^xsd:string, "ORDO:376"^^xsd:string, "SNOMEDCT_US_2020_03_01:237850008"^^xsd:string ; oboInOwl:hasExactSynonym "DA3"@en, "Gordon syndrome"@en, "camptodactyly-cleft palate-clubfoot syndrome"@en, "distal arthrogryposis multiplex congenita type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111607"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111608 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4047"^^xsd:string, "MESH:C537737"^^xsd:string, "OMIM:108145"^^xsd:string, "SNOMEDCT_US_2020_03_01:715217004"^^xsd:string ; oboInOwl:hasExactSynonym "DA5"@en, "DAIIB"@en, "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"@en, "distal arthrogryposis type IIB"@en, "distal arthrogryposis with ophthalmoplegia"@en, "oculomelic amyoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111608"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111609 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness."^^xsd:string ; oboInOwl:hasDbXref "GARD:784"^^xsd:string, "MESH:C535386"^^xsd:string, "OMIM:108200"^^xsd:string, "ORDO:1144"^^xsd:string, "SNOMEDCT_US_2020_03_01:720515009"^^xsd:string ; oboInOwl:hasExactSynonym "DA6"@en, "arthrogryposis and sensorineural deafness"@en, "arthrogryposis-like hand anomaly-sensorineural deafness syndrome"@en, "familial hand abnormality and sensori-neural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111609"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111610 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563791"^^xsd:string, "OMIM:609128"^^xsd:string, "ORDO:65720"^^xsd:string, "SNOMEDCT_US_2020_03_01:715575001"^^xsd:string ; oboInOwl:hasExactSynonym "DA4"@en, "DAIID"@en, "arthrogryposis-severe scoliosis syndrome"@en, "distal arthrogryposis type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111610"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111611 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4952"^^xsd:string, "MESH:C537310"^^xsd:string, "OMIM:607317"^^xsd:string, "ORDO:95434"^^xsd:string, "UMLS_CUI:C1846492"^^xsd:string ; oboInOwl:hasExactSynonym "SCA24"@en, "SCAR4"@en, "SCASI"@en, "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"@en, "spinocerebellar ataxia 24"@en, "spinocerebellar ataxia with saccadic intrusions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111611"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111612 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9971"^^xsd:string, "MESH:C537309"^^xsd:string, "OMIM:271250"^^xsd:string, "ORDO:95433"^^xsd:string, "UMLS_CUI:C1849094"^^xsd:string ; oboInOwl:hasExactSynonym "SCABD"@en, "SCAR3"@en, "autosomal recessive spinocerebellar ataxia type 3"@en, "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"@en, "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111612"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111613 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616949"^^xsd:string, "ORDO:404493"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR23"@en, "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111613"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111614 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616948"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111614"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111615 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617133"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111615"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111616 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618369"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111616"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111617 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4954"^^xsd:string, "MESH:C537312"^^xsd:string, "OMIM:608029"^^xsd:string, "ORDO:284332"^^xsd:string, "UMLS_CUI:C1842676"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR6"@en, "autosomal recessive spinocerebellar ataxia type 6"@en, "infantile-onset autosomal recessive nonprogressive cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111617"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111618 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12234"^^xsd:string, "MESH:C565188"^^xsd:string, "OMIM:610743"^^xsd:string, "ORDO:88644"^^xsd:string, "UMLS_CUI:C1853116"^^xsd:string ; oboInOwl:hasExactSynonym "ARCA1"@en, "Autosomal recessive cerebellar ataxia type 1"@en, "SCAR8"@en, "SYNE1-related autosomal recessive cerebellar ataxia"@en, "autosomal recessive ataxia, Beauce type"@en, "recessive ataxia of Beauce"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111618"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111619 obo:IAO_0000115 "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615182"^^xsd:string, "ORDO:356978"^^xsd:string, "SNOMEDCT_US_2021_03_01:713401006"^^xsd:string, "UMLS_CUI:C4076194"^^xsd:string ; oboInOwl:hasExactSynonym "D,L-2-HGA"@en, "D,L-2-hydroxyglutaric acidemia"@en, "D,L-2-hydroxyglutaric aciduria"@en, "combined D,L-2-hydroxyglutaric aciduria"@en, "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia"@en, "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111619"^^xsd:string ; a owl:Class ; rdfs:label "combined D-2- and L-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111620 obo:IAO_0000115 "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1529"^^xsd:string, "MESH:C535473"^^xsd:string, "OMIM:217400"^^xsd:string, "ORDO:1490"^^xsd:string, "SNOMEDCT_US_2021_03_01:720749004"^^xsd:string, "UMLS_CUI:C1857572"^^xsd:string ; oboInOwl:hasExactSynonym "CDPD"@en, "CDPD1"@en, "Harboyan syndrome"@en, "corneal dystrophy and perceptive deafness"@en, "corneal dystrophy with progressive deafness"@en, "corneal endothelial dystrophy and perceptive deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111620"^^xsd:string ; a owl:Class ; rdfs:label "corneal dystrophy-perceptive deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111621 obo:IAO_0000115 "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5688"^^xsd:string, "MESH:C536959"^^xsd:string, "NCI:C148371"^^xsd:string, "OMIM:218340"^^xsd:string, "ORDO:1777"^^xsd:string, "SNOMEDCT_US_2021_03_01:719947004"^^xsd:string, "UMLS_CUI:C1857512"^^xsd:string ; oboInOwl:hasExactSynonym "Temtamy-Shalash syndrome"@en, "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation"@en, "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome"@en, "dysmorphism, corpus callosum agenesis and colobomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111621"^^xsd:string ; a owl:Class ; rdfs:label "Temtamy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111622 obo:IAO_0000115 "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol."^^xsd:string ; oboInOwl:hasDbXref "GARD:10824"^^xsd:string, "ORDO:189427"^^xsd:string, "SNOMEDCT_US_2021_03_01:720459002"^^xsd:string, "UMLS_CUI:C2062388"^^xsd:string ; oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenocortical hyperplasia"@en, "AIMAH"@en, "Cushing syndrome due to macronodular adrenal hyperplasia"@en, "MMAD"@en, "Primary macronodular adrenal hyperplasia"@en, "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia"@en, "corticotropin-independent macronodular adrenal hyperplasia"@en, "massive macronodular adrenocortical disease"@en, "primary macronodular adrenal hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111622"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_446 . obo:DOID_0111623 obo:IAO_0000115 "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:219080"^^xsd:string ; oboInOwl:hasExactSynonym "AIMAH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111623"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111622 . obo:DOID_0111624 obo:IAO_0000115 "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615954"^^xsd:string ; oboInOwl:hasExactSynonym "AIMAH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111624"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111622 . obo:DOID_0111625 obo:IAO_0000115 "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565657"^^xsd:string, "OMIM:219730"^^xsd:string, "ORDO:443988"^^xsd:string, "UMLS_CUI:C1857423"^^xsd:string ; oboInOwl:hasExactSynonym "VMCKD"@en, "congenital nephrosis-cerebral ventriculomegaly syndrome"@en, "cystic kidney disease with ventriculomegaly"@en, "ventriculomegaly with cystic kidney disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111625"^^xsd:string ; a owl:Class ; rdfs:label "ventriculomegaly - cystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111626 obo:IAO_0000115 "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:234"^^xsd:string, "ICD10CM:E72.59"^^xsd:string, "MESH:C535767"^^xsd:string, "OMIM:220120"^^xsd:string, "ORDO:941"^^xsd:string, "UMLS_CUI:C1291386"^^xsd:string ; oboInOwl:hasExactSynonym "D-glycerate kinase deficiency"@en, "D-glyceric acidemia"@en, "D-glycericacidemia"@en, "deficiency of glycerate kinase"@en, "non ketotic hyperglycinemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111626"^^xsd:string ; a owl:Class ; rdfs:label "D-glyceric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111627 obo:IAO_0000115 "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1685"^^xsd:string, "MESH:C538204"^^xsd:string, "OMIM:220500"^^xsd:string, "ORDO:79500"^^xsd:string, "UMLS_CUI:C0795927"^^xsd:string ; oboInOwl:hasExactSynonym "DOOR syndrome"@en, "DOORS"@en, "autosomal recessive deafness-onychodystrophy syndrome"@en, "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome"@en, "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome"@en, "deafness-onychoosteodystrophy-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111627"^^xsd:string ; a owl:Class ; rdfs:label "DOORS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111628 obo:IAO_0000115 "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12844"^^xsd:string, "OMIM:221200"^^xsd:string, "ORDO:363396"^^xsd:string ; oboInOwl:hasExactSynonym "DFNMYP"@en, "deafness and myopia"@en, "deafness and myopia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111628"^^xsd:string ; a owl:Class ; rdfs:label "high myopia-sensorineural deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111629 obo:IAO_0000115 "A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12347"^^xsd:string, "MESH:C562815"^^xsd:string, "OMIM:222748"^^xsd:string, "ORDO:38874"^^xsd:string, "SNOMEDCT_US_2021_03_01:238014002"^^xsd:string, "UMLS_CUI:C0342803"^^xsd:string ; oboInOwl:hasExactSynonym "DPH deficiency"@en, "DPYS deficiency"@en, "DPYSD"@en, "dihydropyrimidinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111629"^^xsd:string ; a owl:Class ; rdfs:label "dihydropyrimidinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050832, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111630 obo:IAO_0000115 "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:222800"^^xsd:string, "ORDO:714"^^xsd:string ; oboInOwl:hasExactSynonym "BPGM deficiency"@en, "DPGM deficiency"@en, "ECYT8"@en, "bisphosphoglycerate mutase deficiency"@en, "bisphosphoglyceromutase deficiency"@en, "diphosphoglycerate mutase deficiency of erythrocyte"@en, "hemolytic anemia due to diphosphoglycerate mutase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111630"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111631 obo:IAO_0000115 "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617981"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT7"@en, "alpha-globin type erythrocytosis"@en, "alpha-globin type polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111631"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111632 obo:IAO_0000115 "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617980"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT6"@en, "beta-globin type erythrocytosis"@en, "beta-globin type polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111632"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111633 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7710"^^xsd:string, "ICD10CM:E74.31"^^xsd:string, "MEDDRA:10066387"^^xsd:string, "MESH:C538139"^^xsd:string, "NCI:C128190"^^xsd:string, "OMIM:222900"^^xsd:string, "ORDO:35122"^^xsd:string, "SNOMEDCT_US_2021_03_01:78373000"^^xsd:string, "UMLS_CUI:C1283620"^^xsd:string ; oboInOwl:hasExactSynonym "CSID"@en, "SI deficiency"@en, "congenital sucrase-isomaltose malabsorption"@en, "congenital sucrose intolerance"@en, "disaccharide intolerance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111633"^^xsd:string ; a owl:Class ; rdfs:label "congenital sucrase-isomaltase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111634 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618481"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB99"@en, "autosomal recessive deafness 99"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111634"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111635 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618003"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB57"@en, "autosomal recessive deafness 57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111635"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111636 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in CEACAM16 on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618410"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB113"@en, "autosomal recessive deafness 113"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111636"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 113"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111637 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in BDP1 on chromosome 5q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618257"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB112"@en, "autosomal recessive deafness 112"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111637"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 112"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111638 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in PPIP5K2 on chromosome 5q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618422"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB100"@en, "autosomal recessive deafness 100"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111638"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 100"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111639 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in ESRP1 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618013"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB109"@en, "autosomal recessive deafness 109"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111639"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 109"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111640 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in MPZL2 on chromosome 11q23.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618145"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB111"@en, "autosomal recessive deafness 111"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111640"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 111"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111641 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618434"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB94"@en, "autosomal recessive deafness 94"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111641"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 94"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111642 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618456"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB114"@en, "autosomal recessive deafness 114"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111642"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 114"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111643 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in SPNS2 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618457"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB115"@en, "autosomal recessive deafness 115"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111643"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 115"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111644 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in COCH on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618094"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB110"@en, "autosomal recessive deafness 110"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111644"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 110"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111645 obo:IAO_0000115 "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608105"^^xsd:string, "ORDO:163727"^^xsd:string ; oboInOwl:hasExactSynonym "EPRPDC"@en, "RE-PED-WC"@en, "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp"@en, "Rolandic-type focal motor epilepsy and exercise-induced dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111645"^^xsd:string ; a owl:Class ; rdfs:label "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111646 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E73.0"^^xsd:string, "MESH:C562600"^^xsd:string, "OMIM:223000"^^xsd:string, "ORDO:53690"^^xsd:string, "SNOMEDCT_US_2021_03_01:5388008"^^xsd:string, "UMLS_CUI:C0268179"^^xsd:string ; oboInOwl:hasExactSynonym "CLD"@en, "congenital alactasia"@en, "congenital alactasia syndrome"@en, "congenital lactose intolerance"@en, "congenital lactose malabsorption"@en, "disaccharide intolerance II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111646"^^xsd:string ; a owl:Class ; rdfs:label "congenital lactase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111647 obo:IAO_0000115 "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565607"^^xsd:string, "OMIM:224750"^^xsd:string, "ORDO:50944"^^xsd:string, "SNOMEDCT_US_2021_03_01:700062000"^^xsd:string, "UMLS_CUI:C1857069"^^xsd:string ; oboInOwl:hasExactSynonym "SSPS"@en, "eccrine tumors-ectodermal dysplasia"@en, "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome"@en, "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome"@en, "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111647"^^xsd:string ; a owl:Class ; rdfs:label "Schopf-Schulz-Passarge syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111648 obo:IAO_0000115 "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563268"^^xsd:string, "OMIM:225200"^^xsd:string, "SNOMEDCT_US_2021_03_01:419237004"^^xsd:string, "UMLS_CUI:C1644196"^^xsd:string ; oboInOwl:hasExactSynonym "ectopia lentis et pupillae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111648"^^xsd:string ; a owl:Class ; rdfs:label "ectopia lentis with ectopia of pupil"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111649 obo:IAO_0000115 "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2078"^^xsd:string, "OMIM:225280"^^xsd:string, "ORDO:1897"^^xsd:string ; oboInOwl:hasExactSynonym "EEM syndrome"@en, "EEMS"@en, "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111649"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111650 obo:IAO_0000115 "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617392"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD13"@en, "ectodermal dysplasia 13, hair/tooth type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111650"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111651 obo:IAO_0000115 "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618535"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD15"@en, "ectodermal dysplasia 15, hypohidrotic/hair type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111651"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111652 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in KDF1 on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617337"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD12"@en, "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111652"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111653 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614940"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD11A"@en, "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111653"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111654 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614941"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD11B"@en, "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111654"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 11B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111655 obo:IAO_0000115 "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566592"^^xsd:string, "ORDO:69084"^^xsd:string, "UMLS_CUI:C1865951"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111655"^^xsd:string ; a owl:Class ; rdfs:label "pure hair and nail ectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111656 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614931"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD9"@en, "ectodermal dysplasia 9, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111656"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111657 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614927"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD5"@en, "ectodermal dysplasia 5, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111657"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111658 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602032"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD4"@en, "ectodermal dysplasia 4, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111658"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111659 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614928"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD6"@en, "ectodermal dysplasia 6, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111659"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111660 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614929"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD7"@en, "ectodermal dysplasia 7, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111660"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111661 obo:IAO_0000115 "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602401"^^xsd:string, "ORDO:99672"^^xsd:string, "SNOMEDCT_US_2021_03_01:239020008"^^xsd:string, "UMLS_CUI:C0406715"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD8"@en, "Fried's tooth and nail syndrome"@en, "ectodermal dysplasia 8, hair/tooth/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111661"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111662 obo:IAO_0000115 "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618180"^^xsd:string ; oboInOwl:hasExactSynonym "ECTN14"@en, "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111662"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111663 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:129490"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD10A"@en, "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111663"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 10A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111664 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053358"^^xsd:string, "NCI:C84562"^^xsd:string, "OMIM:305100"^^xsd:string, "ORDO:181"^^xsd:string, "SNOMEDCT_US_2021_03_01:239007005"^^xsd:string, "UMLS_CUI:C0162359"^^xsd:string ; oboInOwl:hasExactSynonym "CST syndrome"@en, "Christ-Siemens-Touraine syndrome"@en, "ED1"@en, "HED1"@en, "X-linked anhidrotic ectodermal dysplasia"@en, "XHED"@en, "XLHED"@en, "ectodermal dysplasia 1, anhidrotic"@en, "ectodermal dysplasia 1, hypohidrotic, X-linked"@en, "ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked"@en, "hypohidrotic ectodermal dysplasia, X-Linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111664"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111665 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224900"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD10B"@en, "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111665"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 10B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111666 obo:IAO_0000115 "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "MEDDRA:10071718"^^xsd:string, "MESH:C565593"^^xsd:string, "OMIM:225790"^^xsd:string, "ORDO:221126"^^xsd:string, "SNOMEDCT_US_2021_03_01:700242002"^^xsd:string, "UMLS_CUI:C1856972"^^xsd:string, "UMLS_CUI:C3203738"^^xsd:string ; oboInOwl:hasExactSynonym "EPV"@en, "Fowler syndrome"@en, "Fowler vasculopathy"@en, "PVHH"@en, "cerebral proliferative glomeruloid vasculopathy"@en, "encephaloclastic proliferative vasculopathy"@en, "hydranencephaly, Fowler type"@en, "hydrocephaly/hydranencephaly due to cerebral vasculopathy"@en, "proliferative vasculopathy and hydranencephaly/hydrocephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111666"^^xsd:string ; a owl:Class ; rdfs:label "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111667 obo:IAO_0000115 "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562649"^^xsd:string, "OMIM:226200"^^xsd:string, "ORDO:168601"^^xsd:string, "SNOMEDCT_US_2021_03_01:190952002"^^xsd:string, "UMLS_CUI:C0268416"^^xsd:string ; oboInOwl:hasExactSynonym "congenital enterokinase deficiency"@en, "congenital enteropathy due to enteropeptidase deficiency"@en, "deficiency of enteropeptidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111667"^^xsd:string ; a owl:Class ; rdfs:label "enterokinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111668 obo:IAO_0000115 "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3128"^^xsd:string, "MESH:C537213"^^xsd:string, "OMIM:226750"^^xsd:string, "ORDO:1946"^^xsd:string, "SNOMEDCT_US_2021_03_01:109478007"^^xsd:string, "UMLS_CUI:C0406740"^^xsd:string ; oboInOwl:hasExactSynonym "KTZS"@en, "Kohlschutter's syndrome"@en, "amelocerebrohypohidrotic syndrome"@en, "epilepsy and yellow teeth"@en, "epilepsy dementia amelogenesis imperfecta"@en, "epilepsy-dementia-amelogenesis imperfecta syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111668"^^xsd:string ; a owl:Class ; rdfs:label "Kohlschutter-Tonz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111669 obo:IAO_0000115 "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:D057770"^^xsd:string, "NCI:C98297"^^xsd:string, "OMIM:228600"^^xsd:string, "ORDO:498474"^^xsd:string, "SNOMEDCT_US_2021_03_01:238861002"^^xsd:string, "UMLS_CUI:C2745948"^^xsd:string ; oboInOwl:hasExactSynonym "HFS"@en, "inherited systemic hyalinosis"@en, "puretic syndrome"@en, "systemic hyalinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111669"^^xsd:string ; a owl:Class ; rdfs:label "hyaline fibromatosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111670 obo:IAO_0000115 "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:2835"^^xsd:string, "MESH:C536414"^^xsd:string, "NCI:C123212"^^xsd:string, "OMIM:259900"^^xsd:string, "ORDO:93598"^^xsd:string, "SNOMEDCT_US_2021_03_01:65520001"^^xsd:string, "UMLS_CUI:C0268164"^^xsd:string ; oboInOwl:hasExactSynonym "HP1"@en, "alanine-glyoxylate aminotransferase deficiency"@en, "glycolic aciduria"@en, "hepatic AGT deficiency"@en, "oxalosis I"@en, "peroxisomal alanine-glyoxylate aminotransferase deficiency"@en, "serine:pyruvate aminotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111670"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111671 obo:IAO_0000115 "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2836"^^xsd:string, "MESH:C536415"^^xsd:string, "NCI:C123213"^^xsd:string, "OMIM:260000"^^xsd:string, "ORDO:93599"^^xsd:string, "SNOMEDCT_US_2021_03_01:40951006"^^xsd:string, "UMLS_CUI:C0268165"^^xsd:string ; oboInOwl:hasExactSynonym "D-glycerate dehydrogenase deficiency"@en, "HP2"@en, "L-glyceric aciduria"@en, "oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111671"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111672 obo:IAO_0000115 "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10738"^^xsd:string, "NCI:C123214"^^xsd:string, "OMIM:613616"^^xsd:string, "ORDO:93600"^^xsd:string, "SNOMEDCT_US_2021_03_01:734990008"^^xsd:string, "UMLS_CUI:C3150878"^^xsd:string ; oboInOwl:hasExactSynonym "HP3"@en, "PH III"@en, "primary hyperoxaluria type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111672"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111673 obo:IAO_0000115 "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618150"^^xsd:string, "ORDO:85172"^^xsd:string, "SNOMEDCT_US_2021_03_01:389197004"^^xsd:string, "UMLS_CUI:C1300285"^^xsd:string ; oboInOwl:hasExactSynonym "SWILS"@en, "microcephalic osteodysplastic dysplasia, Saul-Wilson type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111673"^^xsd:string ; a owl:Class ; rdfs:label "Saul-Wilson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111674 obo:IAO_0000115 "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618687"^^xsd:string ; oboInOwl:hasExactSynonym "IDDSSBA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111674"^^xsd:string ; a owl:Class ; rdfs:label "intellectual developmental disorder with short stature and behavioral abnormalities"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111675 obo:IAO_0000115 "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in WDR37 on chromosome 10p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618652"^^xsd:string ; oboInOwl:hasExactSynonym "NOCGUS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111675"^^xsd:string ; a owl:Class ; rdfs:label "neurooculocardiogenitourinary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111676 obo:IAO_0000115 "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2684"^^xsd:string, "MESH:C537060"^^xsd:string, "NCI:C98946"^^xsd:string, "OMIM:228960"^^xsd:string, "ORDO:483"^^xsd:string, "SNOMEDCT_US_2021_03_01:27312002"^^xsd:string, "UMLS_CUI:C0272340"^^xsd:string ; oboInOwl:hasExactSynonym "Fitzgerald trait"@en, "HMWK deficiency"@en, "congenital high-molecular-weight kininogen deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111676"^^xsd:string ; a owl:Class ; rdfs:label "high molecular weight kininogen deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111677 obo:IAO_0000115 "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565564"^^xsd:string, "OMIM:228980"^^xsd:string, "ORDO:363989"^^xsd:string, "SNOMEDCT_US_2021_03_01:770434009"^^xsd:string, "UMLS_CUI:C1856718"^^xsd:string ; oboInOwl:hasExactSynonym "FRFB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111677"^^xsd:string ; a owl:Class ; rdfs:label "familial benign fleck retina"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111678 obo:IAO_0000115 "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12983"^^xsd:string, "MESH:C562799"^^xsd:string, "NCI:C156424"^^xsd:string, "OMIM:229050"^^xsd:string, "ORDO:90045"^^xsd:string, "SNOMEDCT_US_2021_03_01:62578003"^^xsd:string, "UMLS_CUI:C0342705"^^xsd:string ; oboInOwl:hasExactSynonym "congenital defect of folate absorption"@en, "congenital folate malabsorption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111678"^^xsd:string ; a owl:Class ; rdfs:label "hereditary folate malabsorption"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111679 obo:IAO_0000115 "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9279"^^xsd:string, "MESH:C537425"^^xsd:string, "OMIM:229100"^^xsd:string, "ORDO:51208"^^xsd:string, "SNOMEDCT_US_2021_03_01:59761008"^^xsd:string, "UMLS_CUI:C0268609"^^xsd:string ; oboInOwl:hasExactSynonym "Arakawa syndrome 1"@en, "FIGLUria"@en, "FTCD deficiency"@en, "formiminoglutamic acidemia"@en, "formiminoglutamic aciduria"@en, "formiminotransferase cyclodeaminase deficiency"@en, "formiminotransferase deficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111679"^^xsd:string ; a owl:Class ; rdfs:label "glutamate formiminotransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111680 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.11"^^xsd:string, "MEDDRA:10015487"^^xsd:string, "MESH:C538068"^^xsd:string, "OMIM:229800"^^xsd:string, "ORDO:2056"^^xsd:string, "SNOMEDCT_US_2021_03_01:124300009"^^xsd:string, "UMLS_CUI:C0268160"^^xsd:string ; oboInOwl:hasExactSynonym "fructokinase deficiency"@en, "hepatic fructokinase deficiency"@en, "ketohexokinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111680"^^xsd:string ; a owl:Class ; rdfs:label "essential fructosuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111681 obo:IAO_0000115 "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565557"^^xsd:string, "OMIM:230450"^^xsd:string, "ORDO:33574"^^xsd:string, "UMLS_CUI:C1856603"^^xsd:string ; oboInOwl:hasExactSynonym "gamma-glutamylcysteine synthetase deficiency"@en, "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111681"^^xsd:string ; a owl:Class ; rdfs:label "glutamate-cysteine ligase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111682 obo:IAO_0000115 "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder."^^xsd:string ; oboInOwl:hasDbXref "GARD:4658"^^xsd:string, "OMIM:601331"^^xsd:string ; oboInOwl:hasExactSynonym "CYSRD"@en, "renal dysplasia diffuse cystic"@en, "susceptibility to cystic renal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111682"^^xsd:string ; a owl:Class ; rdfs:label "diffuse cystic renal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2975, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111683 obo:IAO_0000115 "A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:372"^^xsd:string, "MESH:C537393"^^xsd:string, "OMIM:601321"^^xsd:string, "ORDO:638"^^xsd:string, "SNOMEDCT_US_2021_03_01:715344006"^^xsd:string, "UMLS_CUI:C2931482"^^xsd:string ; oboInOwl:hasExactSynonym "NFNS"@en, "Noonan neurofibromatosis syndrome"@en, "neurofibromatosis type 1-Noonan syndrome"@en, "neurofibromatosis with Noonan phenotype"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111683"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis-Noonan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004322 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0111684 obo:IAO_0000115 "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated."^^xsd:string ; oboInOwl:hasDbXref "ORDO:157794"^^xsd:string ; oboInOwl:hasExactSynonym "HMPS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111684"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0111685 obo:IAO_0000115 "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601228"^^xsd:string ; oboInOwl:hasExactSynonym "CRAC1"@en, "HMPS1"@en, "chromosome 15q13-q14 duplication syndrome, 40-KB"@en, "colorectal adenoma and carcinoma 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111685"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0111684, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0111686 obo:IAO_0000115 "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610069"^^xsd:string ; oboInOwl:hasExactSynonym "HMPS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111686"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111684, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111687 obo:IAO_0000115 "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9762"^^xsd:string, "MESH:C538356"^^xsd:string, "NCI:C75456"^^xsd:string, "OMIM:601224"^^xsd:string, "ORDO:52022"^^xsd:string, "SNOMEDCT_US_2021_03_01:702346005"^^xsd:string, "UMLS_CUI:C1832588"^^xsd:string ; oboInOwl:hasExactSynonym "11p11.2 deletion"@en, "PSS"@en, "proximal 11p deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111687"^^xsd:string ; a owl:Class ; rdfs:label "Potocki-Shaffer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111688 obo:IAO_0000115 "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563390"^^xsd:string, "OMIM:601088"^^xsd:string, "UMLS_CUI:C1832812"^^xsd:string ; oboInOwl:hasExactSynonym "AYGRP"@en, "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111688"^^xsd:string ; a owl:Class ; rdfs:label "Ayme-Gripp syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111689 obo:IAO_0000115 "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS601068"^^xsd:string, "ORDO:86814"^^xsd:string, "SNOMEDCT_US_2021_03_01:717225001"^^xsd:string, "UMLS_CUI:C4273988"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME"@en, "FAME"@en, "FCMTE"@en, "benign adult familial myoclonic epilepsy"@en, "benign adult familial myoclonus epilepsy"@en, "familial cortical myoclonic tremor and epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111689"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111690 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601068"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME1"@en, "FAME1"@en, "FCMTE1"@en, "benign adult familial myoclonic epilepsy 1"@en, "familial cortical myoclonic tremor and epilepsy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111690"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111691 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615400"^^xsd:string ; oboInOwl:hasExactSynonym "FAME5"@en, "FCMTE5"@en, "familial cortical myoclonic tremor and epilepsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111691"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111692 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607876"^^xsd:string ; oboInOwl:hasExactSynonym "ADCME"@en, "BAFME2"@en, "FAME2"@en, "FCMTE2"@en, "autosomal dominant cortical myoclonus and epilepsy"@en, "benign adult familial myoclonic epilepsy 2"@en, "familial cortical myoclonic tremor and epilepsy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111692"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111693 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in YEATS2 on chromosome 3q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615127"^^xsd:string ; oboInOwl:hasExactSynonym "FAME4"@en, "FCMTE4"@en, "familial cortical myoclonic tremor and epilepsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111693"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111694 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618075"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME7"@en, "FAME7"@en, "FCMTE7"@en, "benign adult familial myoclonic epilepsy 7"@en, "familial cortical myoclonic tremor and epilepsy 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111694"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111695 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613608"^^xsd:string ; oboInOwl:hasExactSynonym "FAME3"@en, "FCMTE3"@en, "familial cortical myoclonic tremor and epilepsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111695"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111696 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618074"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME6"@en, "FAME6"@en, "FCMTE6"@en, "benign adult familial myoclonic epilepsy 6"@en, "familial cortical myoclonic tremor and epilepsy 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111696"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111697 obo:IAO_0000115 "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in MEIS2 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563414"^^xsd:string, "OMIM:600987"^^xsd:string, "UMLS_CUI:C1832950"^^xsd:string ; oboInOwl:hasExactSynonym "CPCMR"^^xsd:string, "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"^^xsd:string, "cleft palate, cardiac defects, and mental retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111697"^^xsd:string ; a owl:Class ; rdfs:label "cleft palate, cardiac defects, and intellectual disabillity"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111698 obo:IAO_0000115 "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563423"^^xsd:string, "OMIM:600955"^^xsd:string, "ORDO:71528"^^xsd:string, "UMLS_CUI:C1833053"^^xsd:string ; oboInOwl:hasExactSynonym "PCI deficiency"^^xsd:string, "obesity and endocrinopathy due to impaired processing of prohormones"^^xsd:string, "obesity due to prohormone convertase I deficiency"^^xsd:string, "obesity with impaired prohormone processing"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111698"^^xsd:string ; a owl:Class ; rdfs:label "proprotein convertase 1/3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111699 obo:IAO_0000115 "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3382"^^xsd:string, "MESH:C535909"^^xsd:string, "OMIM:600920"^^xsd:string, "ORDO:2460"^^xsd:string, "SNOMEDCT_US_2021_03_01:719845008"^^xsd:string, "UMLS_CUI:C1833136"^^xsd:string ; oboInOwl:hasExactSynonym "Marden-Walker-like syndrome"^^xsd:string, "Marden-Walker-like syndrome without psychmotor retardation"^^xsd:string, "VDEGS"^^xsd:string, "blepharophimosis, arachnodactyly, and congenital contractures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111699"^^xsd:string ; a owl:Class ; rdfs:label "Van den Ende-Gupta syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111700 obo:IAO_0000115 "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:13294"^^xsd:string, "OMIM:600919"^^xsd:string ; oboInOwl:hasExactSynonym "ankyrin-B syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111700"^^xsd:string ; a owl:Class ; rdfs:label "ankyrin-B-related cardiac arrhythmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111701 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10432"^^xsd:string ; oboInOwl:hasExactSynonym "LQT4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111701"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111702 obo:IAO_0000115 "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age."^^xsd:string ; oboInOwl:hasDbXref "GARD:3287"^^xsd:string, "MESH:D058247"^^xsd:string, "OMIM:600628"^^xsd:string, "ORDO:168"^^xsd:string, "SNOMEDCT_US_2021_03_01:238735005"^^xsd:string, "UMLS_CUI:C0406468"^^xsd:string ; oboInOwl:hasExactSynonym "loose anagen syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111702"^^xsd:string ; a owl:Class ; rdfs:label "loose anagen hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_987 . obo:DOID_0111703 obo:IAO_0000115 "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2871"^^xsd:string, "MESH:C563467"^^xsd:string, "OMIM:600627"^^xsd:string, "ORDO:2224"^^xsd:string, "SNOMEDCT_US_2021_03_01:721838005"^^xsd:string, "UMLS_CUI:C2931837"^^xsd:string ; oboInOwl:hasExactSynonym "HYPTRP"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111703"^^xsd:string ; a owl:Class ; rdfs:label "familial hypertryptophanemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111704 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538317"^^xsd:string, "NCI:C129021"^^xsd:string, "OMIM:600430"^^xsd:string, "ORDO:1001"^^xsd:string, "SNOMEDCT_US_2021_03_01:702357000"^^xsd:string, "UMLS_CUI:C2931817"^^xsd:string ; oboInOwl:hasExactSynonym "2q37 microdeletion syndrome"^^xsd:string, "Albright hereditary osteodystrophy type 3"^^xsd:string, "Albright hereditary osteodystrophy-like syndrome"^^xsd:string, "Albright's hereditary osteodystrophy-like syndrome"^^xsd:string, "BDMR"^^xsd:string, "Brachydactyly-intellectual disability syndrome"^^xsd:string, "Del(2)(q37)"^^xsd:string, "deletion 2q37"^^xsd:string, "monosomy 2q37qter"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111704"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q37 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0111705 obo:IAO_0000115 "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10366"^^xsd:string, "MESH:C563969"^^xsd:string, "OMIM:600268"^^xsd:string, "ORDO:3339"^^xsd:string, "SNOMEDCT_US_2021_03_01:723554006"^^xsd:string, "UMLS_CUI:C1838329"^^xsd:string ; oboInOwl:hasExactSynonym "Toriello-Lacassie-Droste syndrome"^^xsd:string, "aplasia cutis congenita-epibulbar dermoids syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111705"^^xsd:string ; a owl:Class ; rdfs:label "oculoectodermal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111706 obo:IAO_0000115 "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600251"^^xsd:string ; oboInOwl:hasExactSynonym "Tessier number 4 facial cleft"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111706"^^xsd:string ; a owl:Class ; rdfs:label "oblique facial clefting 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111707 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:1862"^^xsd:string, "OMIM:600231"^^xsd:string ; oboInOwl:hasExactSynonym "PPKB"^^xsd:string, "diffuse palmoplantar keratoderma, Bothnian type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111707"^^xsd:string ; a owl:Class ; rdfs:label "Bothnian type palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111708 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538682"^^xsd:string, "ORDO:448264"^^xsd:string, "UMLS_CUI:C2931923"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK"^^xsd:string, "isolated focal non-epidermolytic palmoplantar keratoderma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111708"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428 . obo:DOID_0111709 obo:IAO_0000115 "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613000"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111709"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111708, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111710 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615735"^^xsd:string, "ORDO:402003"^^xsd:string ; oboInOwl:hasExactSynonym "PPKNEFD"^^xsd:string, "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111710"^^xsd:string ; a owl:Class ; rdfs:label "focal or diffuse nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111711 obo:IAO_0000115 "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616400"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111711"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111708, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111712 obo:IAO_0000115 "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608149"^^xsd:string, "ORDO:254519"^^xsd:string ; oboInOwl:hasExactSynonym "KOS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111712"^^xsd:string ; a owl:Class ; rdfs:label "Kagami-Ogata syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111713 obo:IAO_0000115 "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C120409"^^xsd:string, "OMIM:616222"^^xsd:string, "ORDO:254516"^^xsd:string, "SNOMEDCT_US_2021_03_01:778012003"^^xsd:string, "UMLS_CUI:C4015558"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111713"^^xsd:string ; a owl:Class ; rdfs:label "Temple syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111714 obo:IAO_0000115 "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617352"^^xsd:string, "ORDO:96186"^^xsd:string, "SNOMEDCT_US_2021_03_01:715735007"^^xsd:string, "UMLS_CUI:C4275029"^^xsd:string ; oboInOwl:hasExactSynonym "MBCS"^^xsd:string, "UPD(20)mat"^^xsd:string, "maternal UPD(20)"^^xsd:string, "maternal uniparental disomy of chromosome 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111714"^^xsd:string ; a owl:Class ; rdfs:label "Mulchandani-Bhoj-Conlin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111715 obo:IAO_0000115 "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13316"^^xsd:string, "OMIM:615547"^^xsd:string, "ORDO:398069"^^xsd:string, "SNOMEDCT_US_2021_03_01:770680004"^^xsd:string, "UMLS_CUI:C3809877"^^xsd:string ; oboInOwl:hasExactSynonym "MAGEL2-related PWLS"^^xsd:string, "MAGEL2-related Prader-Willi-like syndrome"^^xsd:string, "PWLS"^^xsd:string, "SHFYNG"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111715"^^xsd:string ; a owl:Class ; rdfs:label "Schaaf-Yang syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111716 obo:IAO_0000115 "A physical disorder characterized by ocular dysplasia with eyelid malformation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.2"^^xsd:string, "ICD9CM:743.06"^^xsd:string, "NCI:C124520"^^xsd:string, "ORDO:98562"^^xsd:string, "SNOMEDCT_US_2021_03_01:62589005"^^xsd:string, "UMLS_CUI:C0311249"^^xsd:string ; oboInOwl:hasExactSynonym "cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111716"^^xsd:string ; a owl:Class ; rdfs:label "cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0111717 obo:IAO_0000115 "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565138"^^xsd:string, "OMIM:123570"^^xsd:string, "ORDO:91396"^^xsd:string, "UMLS_CUI:C1852453"^^xsd:string ; oboInOwl:hasExactSynonym "CRYPTOP"^^xsd:string, "unilateral or bilateral isolated cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111717"^^xsd:string ; a owl:Class ; rdfs:label "isolated cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111716 . obo:DOID_0111718 obo:IAO_0000115 "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98950"^^xsd:string ; oboInOwl:hasExactSynonym "incomplete cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111718"^^xsd:string ; a owl:Class ; rdfs:label "partial cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111719 obo:IAO_0000115 "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111719"^^xsd:string ; a owl:Class ; rdfs:label "complete cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111720 obo:IAO_0000115 "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98948"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111720"^^xsd:string ; a owl:Class ; rdfs:label "congenital symblepharon"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111721 obo:IAO_0000115 "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562880"^^xsd:string, "ORDO:100032"^^xsd:string, "SNOMEDCT_US_2021_03_01:109471001"^^xsd:string, "UMLS_CUI:C0399376"^^xsd:string ; oboInOwl:hasExactSynonym "AI3"^^xsd:string, "hypocalcified amelogenesis imperfecta"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111721"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2187 . obo:DOID_0111722 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618386"^^xsd:string ; oboInOwl:hasExactSynonym "AI3C"^^xsd:string, "amelogenesis imperfecta type IIIC"^^xsd:string, "autosomal recessive amelogenesis imperfecta hypocalcification type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111722"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111723 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "GARD:307"^^xsd:string, "MESH:D054868"^^xsd:string, "OMIM:147791"^^xsd:string, "ORDO:2308"^^xsd:string ; oboInOwl:hasExactSynonym "Jacobsen distal 11q deletion syndrome"^^xsd:string, "chromosome 11q deletion syndrome"^^xsd:string, "partial 11q monosomy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111723"^^xsd:string ; a owl:Class ; rdfs:label "Jacobsen Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0111724 obo:IAO_0000115 "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:2449"^^xsd:string, "MEDDRA:10063361"^^xsd:string, "OMIM:PS231050"^^xsd:string, "ORDO:2623"^^xsd:string, "SNOMEDCT_US_2021_03_01:28557005"^^xsd:string, "UMLS_CUI:C3489726"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD"^^xsd:string, "geleophysic dwarfism"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111724"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0111725 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231050"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111725"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111726 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614185"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111726"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111727 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in LTBP3 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617809"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111727"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111728 obo:IAO_0000115 "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion."^^xsd:string ; oboInOwl:hasDbXref "GARD:12684"^^xsd:string, "OMIM:PS615040"^^xsd:string, "ORDO:391384"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111728"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0111729 obo:IAO_0000115 "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615040"^^xsd:string, "ORDO:391389"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111729"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111730 obo:IAO_0000115 "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615551"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111730"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111731 obo:IAO_0000115 "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "NCI:C125390"^^xsd:string, "OMIM:615552"^^xsd:string, "ORDO:391392"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111731"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111732 obo:IAO_0000115 "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564010"^^xsd:string, "OMIM:600002"^^xsd:string, "ORDO:79106"^^xsd:string, "SNOMEDCT_US_2021_03_01:720863002"^^xsd:string, "UMLS_CUI:C1838779"^^xsd:string ; oboInOwl:hasExactSynonym "Eiken skeletal dysplasia"^^xsd:string, "bone modeling defect of hands and feet"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111732"^^xsd:string ; a owl:Class ; rdfs:label "Eiken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111733 obo:IAO_0000115 "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600001"^^xsd:string ; oboInOwl:hasExactSynonym "HDCA"^^xsd:string, "PACHD"^^xsd:string, "Yorifuji-Okuno syndrome"^^xsd:string, "congenital heart defects and other congenital anomalies"^^xsd:string, "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease"^^xsd:string, "pancreatic agenesis and congenital heart defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111733"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic hypoplasia-diabetes-congenital heart disease syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111734 obo:IAO_0000115 "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:580000"^^xsd:string ; oboInOwl:hasExactSynonym "streptomycin ototoxicity"^^xsd:string, "streptomycin-induced deafness"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111734"^^xsd:string ; a owl:Class ; rdfs:label "aminoglycoside-induced deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0070310 . obo:DOID_0111735 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in SMPX on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300066"^^xsd:string ; oboInOwl:hasExactSynonym "DFN6"^^xsd:string, "DFNX4"^^xsd:string, "X-linked progressive deafness 6"^^xsd:string, "nonsyndromic sensorineural progressive deafness 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111735"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111736 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300030"^^xsd:string ; oboInOwl:hasExactSynonym "DFN4"^^xsd:string, "DFNX3"^^xsd:string, "congenital sensorineural X-linked deafness 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111736"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111737 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080783"^^xsd:string ; oboInOwl:hasDbXref "OMIM:304400"^^xsd:string, "ORDO:383"^^xsd:string ; oboInOwl:hasExactSynonym "DFN3"^^xsd:string, "DFNX2"^^xsd:string, "Nance deafness"^^xsd:string, "X-linked deafness type 2"^^xsd:string, "X-linked mixed conductive and neurosensory deafness"^^xsd:string, "X-linked mixed conductive and neurosensory hearing loss"^^xsd:string, "X-linked mixed conductive and sensorineural deafness"^^xsd:string, "X-linked mixed conductive and sensorineural hearing loss"^^xsd:string, "X-linked sensorineural deafness"^^xsd:string, "X-linked stapes gusher syndrome"^^xsd:string, "conductive deafness 3 with stapes fixation"^^xsd:string, "conductive deafness with stapes fixation"^^xsd:string, "mixed deafness with perilymphatic gusher"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111737"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111738 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301018"^^xsd:string, "ORDO:500188"^^xsd:string ; oboInOwl:hasExactSynonym "DFNX7"^^xsd:string, "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111738"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111739 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:304500"^^xsd:string ; oboInOwl:hasExactSynonym "DFN2"^^xsd:string, "DFNX1"^^xsd:string, "X-linked sensorineural congenital deafness 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111739"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111740 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in COL4A6 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300914"^^xsd:string ; oboInOwl:hasExactSynonym "DFNX6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111740"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111741 obo:IAO_0000115 "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300614"^^xsd:string, "ORDO:139583"^^xsd:string ; oboInOwl:hasExactSynonym "AUNX1"^^xsd:string, "DFNX5"^^xsd:string, "X-linked HSAN with deafness"^^xsd:string, "X-linked auditory neuropathy 1 with peripheral sensory neuropathy"^^xsd:string, "X-linked auditory neuropathy with peripheral sensory neuropathy type 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111741"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111742 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616795"^^xsd:string, "ORDO:458803"^^xsd:string ; oboInOwl:hasExactSynonym "SCA42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111742"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 42"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111743 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in PUM1 on chromosome 1p35.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617931"^^xsd:string ; oboInOwl:hasExactSynonym "SCA47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111743"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 47"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111744 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in TRPC3 on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616410"^^xsd:string, "ORDO:458798"^^xsd:string ; oboInOwl:hasExactSynonym "SCA41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111744"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 41"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111745 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617018"^^xsd:string, "ORDO:497764"^^xsd:string ; oboInOwl:hasExactSynonym "SCA43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111745"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 43"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111746 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in STUB1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618093"^^xsd:string ; oboInOwl:hasExactSynonym "SCA48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111746"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 48"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111747 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI."^^xsd:string ; oboInOwl:hasDbXref "GARD:10481"^^xsd:string, "OMIM:612876"^^xsd:string ; oboInOwl:hasExactSynonym "SCA9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111747"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111748 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500015"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DM1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111748"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143 . obo:DOID_0111749 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618683"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111749"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143 . obo:DOID_0111750 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111750"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset ataxia and polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111751 obo:IAO_0000115 "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111751"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial nonsyndromic sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_10003 . obo:DOID_0111752 obo:IAO_0000115 "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:221745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111752"^^xsd:string ; a owl:Class ; rdfs:label "autosomal-mitochondrial sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_10003, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0111753 obo:IAO_0000115 "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111753"^^xsd:string ; a owl:Class ; rdfs:label "infantile hypertrophic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11984 . obo:DOID_0111754 obo:IAO_0000115 "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ORDO:99718"^^xsd:string ; oboInOwl:hasExactSynonym "LHON plus disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111754"^^xsd:string ; a owl:Class ; rdfs:label "Leber plus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111755 obo:IAO_0000115 "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500001"^^xsd:string ; oboInOwl:hasExactSynonym "LDYT"^^xsd:string, "Leber optic atrophy and dystonia"^^xsd:string, "Leber optic atrophy with dystonia"^^xsd:string, "Marsden syndrome"^^xsd:string, "familial dystonia with visual failure and striatal lucencies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111755"^^xsd:string ; a owl:Class ; rdfs:label "Leber hereditary optic neuropathy and dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111754 . obo:DOID_0111756 obo:IAO_0000115 "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "OMIM:165200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111756"^^xsd:string ; a owl:Class ; rdfs:label "Leber hereditary optic neuropathy with demyelinating disease of CNS"^^xsd:string ; rdfs:subClassOf obo:DOID_0111754 . obo:DOID_0111757 obo:IAO_0000115 "A nonsyndromic deafness characterized by a Y-lnked inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS400043"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111757"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050738, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0111758 obo:IAO_0000115 "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in TBL1Y on chromosome Yp11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400047"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111758"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111757 . obo:DOID_0111759 obo:IAO_0000115 "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400043"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111759"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111757 . obo:DOID_0111760 obo:IAO_0000115 "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous."^^xsd:string ; oboInOwl:hasDbXref "GARD:399"^^xsd:string, "MESH:D058531"^^xsd:string, "ORDO:393"^^xsd:string ; oboInOwl:hasExactSynonym "46,XX testicular DSD"^^xsd:string, "46,XX testicular disorder of sex development"^^xsd:string, "De la Chapelle syndrome"^^xsd:string, "SRXX"^^xsd:string, "XX, male syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111760"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_0111761 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400045"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111761"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111762 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300833"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111762"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111763 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278850"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX2"^^xsd:string, "chromosome 17q24 dupication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111763"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111764 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617480"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111764"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111765 obo:IAO_0000115 "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536197"^^xsd:string, "NCI:C141423"^^xsd:string, "OMIM:314400"^^xsd:string, "ORDO:555877"^^xsd:string, "SNOMEDCT_US_2021_03_01:67202007"^^xsd:string, "UMLS_CUI:C0268341"^^xsd:string ; oboInOwl:hasExactSynonym "CVD1"^^xsd:string, "Dystrophie valvulaire associee a FLNA"^^xsd:string, "EDS 5"^^xsd:string, "Ehlers-Danlos syndrome, type 5"^^xsd:string, "FLNA-related X-linked myxomatous valvular dysplasia"^^xsd:string, "FLNA-related valvular dystrophy"^^xsd:string, "Filamin A-related X-linked myxomatous valvular dysplasia"^^xsd:string, "XMVD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111765"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cardiac valvular dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_4079, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111766 obo:IAO_0000115 "A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8498"^^xsd:string, "OMIM:314390"^^xsd:string ; oboInOwl:hasExactSynonym "VACTERL association, X-linked with or without hydrocephalus"^^xsd:string, "VACTERLX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111766"^^xsd:string ; a owl:Class ; rdfs:label "X-linked VACTERL association"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111767 obo:IAO_0000115 "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564050"^^xsd:string, "NCI:C134941"^^xsd:string, "OMIM:314050"^^xsd:string, "ORDO:231393"^^xsd:string, "UMLS_CUI:C1839161"^^xsd:string ; oboInOwl:hasExactSynonym "GATA1-related X-linked cytopenia"^^xsd:string, "XLTT"^^xsd:string, "beta-thalassemia-X-linked thrombocytopenia syndrome"^^xsd:string, "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111767"^^xsd:string ; a owl:Class ; rdfs:label "X-linked thrombocytopenia with beta-thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_74, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111768 obo:IAO_0000115 "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9913"^^xsd:string, "MESH:C537241"^^xsd:string, "OMIM:312060"^^xsd:string, "ORDO:2966"^^xsd:string, "SNOMEDCT_US_2021_03_01:81166004"^^xsd:string, "UMLS_CUI:C0398762"^^xsd:string, "UMLS_CUI:C1839454"^^xsd:string ; oboInOwl:hasExactSynonym "CFPD"^^xsd:string, "complement factor properdin deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111768"^^xsd:string ; a owl:Class ; rdfs:label "X-linked properdin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_626, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111769 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in MAP3K1 on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613762"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, MAP3K1-related"^^xsd:string, "46,XY sex reversal, partial or complete, MAP3K1-related"^^xsd:string, "SRXY6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111769"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111770 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in ZFPM2 on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616067"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY sex reversal, ZFPM2-related"^^xsd:string, "SRXY9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111770"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111771 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:154230"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion"^^xsd:string, "SRXY4"^^xsd:string, "chromosome 9p24.3 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111771"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_14448, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111772 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612965"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure"^^xsd:string, "46,XY sex reversal, partial or complete, NR5A1-related"^^xsd:string, "SRXY3"^^xsd:string, "disorder of sex development, 46,XY, NR5A1-related"^^xsd:string, "sex reversal, XY, with or without adrenal failure"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111772"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111773 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614279"^^xsd:string, "ORDO:443087"^^xsd:string ; oboInOwl:hasExactSynonym "SRXY8"^^xsd:string, "TDD"^^xsd:string, "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111773"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111774 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233420"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, DHH-related"^^xsd:string, "46,XY sex reversal, partial or complete, DHH-related"^^xsd:string, "GDXYM"^^xsd:string, "SRXY7"^^xsd:string, "gonadal dysgenesis, XY, male limited"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111774"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111775 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of SOX9 on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616425"^^xsd:string ; oboInOwl:hasExactSynonym "SRXY10"^^xsd:string, "chromosome 17q24 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111775"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_14448, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111776 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in CBX2 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613080"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, complete, CBX2-related"^^xsd:string, "46,XY sex reversal, CBX2-related"^^xsd:string, "SRXY5"^^xsd:string, "disorder of sex development, 46,XY, CBX2-related"^^xsd:string, "sex reversal, XY, CBX2-related"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111776"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111777 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9159"^^xsd:string, "OMIM:300018"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY sex reversal, DAX1-related"^^xsd:string, "46XY sex reversal 2, dosage-sensitive"^^xsd:string, "DSS"^^xsd:string, "SRXY2"^^xsd:string, "dosage-sensitive sex reversal"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111777"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111778 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400044"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, complete, SRY-related"^^xsd:string, "46,XY sex reversal, SRY-related"^^xsd:string, "SRXY1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111778"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0111779 obo:IAO_0000115 "A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:6737"^^xsd:string, "OMIM:312000"^^xsd:string ; oboInOwl:hasExactSynonym "PHPX"^^xsd:string, "pituitary dwarfism IV"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111779"^^xsd:string ; a owl:Class ; rdfs:label "X-linked panhypopituitarism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_9410, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111780 obo:IAO_0000115 "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10089"^^xsd:string, "MESH:C536942"^^xsd:string, "OMIM:311900"^^xsd:string, "ORDO:2886"^^xsd:string, "SNOMEDCT_US_2021_03_01:725911008"^^xsd:string, "UMLS_CUI:C1839463"^^xsd:string ; oboInOwl:hasExactSynonym "Pierre Robin sequence-congenital heart defect-talipes syndrome"^^xsd:string, "Pierre Robin syndrome-congenital heart defect-talipes syndrome"^^xsd:string, "TARPS"^^xsd:string, "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111780"^^xsd:string ; a owl:Class ; rdfs:label "TARP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111781 obo:IAO_0000115 "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:311510"^^xsd:string ; oboInOwl:hasExactSynonym "Laxova-Opitz syndrome"^^xsd:string, "early-onset parkinsonism-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111781"^^xsd:string ; a owl:Class ; rdfs:label "Waisman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111782 obo:IAO_0000115 "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "ORDO:364541"^^xsd:string ; oboInOwl:hasExactSynonym "OPD spectrum disorder"^^xsd:string, "OPSD"^^xsd:string, "fronto-otopalatodigital osteodysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111782"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0111783 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:5121"^^xsd:string, "MESH:C536065"^^xsd:string, "NCI:C118845"^^xsd:string, "OMIM:311300"^^xsd:string, "ORDO:90650"^^xsd:string, "SNOMEDCT_US_2021_03_01:54036001"^^xsd:string, "UMLS_CUI:C0265251"^^xsd:string ; oboInOwl:hasExactSynonym "OPD I syndrome"^^xsd:string, "OPD syndrome 1"^^xsd:string, "OPD1"^^xsd:string, "Taybi syndrome"^^xsd:string, "oto-palato-digital syndrome type 1"^^xsd:string, "otopalatodigital syndrome type I"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111783"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111784 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:5802"^^xsd:string, "MESH:C538089"^^xsd:string, "OMIM:304120"^^xsd:string, "ORDO:90652"^^xsd:string, "SNOMEDCT_US_2021_03_01:42432003"^^xsd:string, "UMLS_CUI:C1844696"^^xsd:string ; oboInOwl:hasExactSynonym "Andre syndrome"^^xsd:string, "OPD II syndrome"^^xsd:string, "OPD syndrome 2"^^xsd:string, "OPD2"^^xsd:string, "faciopalatoosseous syndrome"^^xsd:string, "oto-palato-digital syndrome type 2"^^xsd:string, "otopalatodigital syndrome type II"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111784"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111785 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:826"^^xsd:string, "MESH:C538064"^^xsd:string, "OMIM:PS305620"^^xsd:string, "ORDO:1826"^^xsd:string, "SNOMEDCT_US_2021_03_01:62803002"^^xsd:string, "UMLS_CUI:C0265293"^^xsd:string ; oboInOwl:hasExactSynonym "FMD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111785"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111782 . obo:DOID_0111786 obo:IAO_0000115 "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305620"^^xsd:string ; oboInOwl:hasExactSynonym "FMD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111786"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111785, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111787 obo:IAO_0000115 "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617137"^^xsd:string ; oboInOwl:hasExactSynonym "FMD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111787"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111785, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111788 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:7011"^^xsd:string, "MEDDRA:10060908"^^xsd:string, "MESH:D010009"^^xsd:string, "OMIM:309350"^^xsd:string, "ORDO:1826"^^xsd:string, "SNOMEDCT_US_2021_03_01:13449007"^^xsd:string, "UMLS_CUI:C0025237"^^xsd:string ; oboInOwl:hasExactSynonym "MNS"^^xsd:string, "Melnick-Needles osteodysplasty"^^xsd:string, "osteodysplasty of Melnick and Needles"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111788"^^xsd:string ; a owl:Class ; rdfs:label "Melnick-Needles syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111789 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5138"^^xsd:string, "MESH:C537274"^^xsd:string, "OMIM:249420"^^xsd:string, "ORDO:137834"^^xsd:string, "SNOMEDCT_US_2021_03_01:720958002"^^xsd:string, "UMLS_CUI:C1855305"^^xsd:string ; oboInOwl:hasExactSynonym "Borrone dermatocardioskeletal syndrome"^^xsd:string, "FTHS"^^xsd:string, "Ter Haar syndrome"^^xsd:string, "autosomal recessive Melnick-Needles syndrome"^^xsd:string, "megalocornea, multiple skeletal anomalies, and developmental delay"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111789"^^xsd:string ; a owl:Class ; rdfs:label "Frank-Ter Haar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111790 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2969"^^xsd:string, "OMIM:310700"^^xsd:string ; oboInOwl:hasExactSynonym "NYS1"^^xsd:string, "X-linked infantile nystagmus 1"^^xsd:string, "congenital motor nystagmus 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111790"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111791 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614826"^^xsd:string ; oboInOwl:hasExactSynonym "NYS7"^^xsd:string, "autosomal dominant congenital nystagmus 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111791"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111792 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9599"^^xsd:string, "OMIM:164100"^^xsd:string ; oboInOwl:hasExactSynonym "NYS2"^^xsd:string, "autosomal dominant congenital nystagmus 2"^^xsd:string, "congenital motor nystagmus 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111792"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111793 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9600"^^xsd:string, "OMIM:608345"^^xsd:string ; oboInOwl:hasExactSynonym "NYS3"^^xsd:string, "autosomal dominant congenital nystagmus 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111793"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111794 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9603"^^xsd:string, "OMIM:193003"^^xsd:string ; oboInOwl:hasExactSynonym "NYS4"^^xsd:string, "autosomal dominant congenital nystagmus 4"^^xsd:string, "vestibulocerebellar disorder with predominant ocular signs"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111794"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111795 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in GPR143 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300814"^^xsd:string ; oboInOwl:hasExactSynonym "NYS6"^^xsd:string, "X-linked congenital nystagmus 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111795"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111796 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300589"^^xsd:string ; oboInOwl:hasExactSynonym "NYS5"^^xsd:string, "X-linked congenital nystagmus 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111796"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111797 obo:IAO_0000115 "A congenital nystagmus characterized by autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9609"^^xsd:string, "OMIM:257400"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive congenital motor nystagmus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111797"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111798 obo:IAO_0000115 "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310468"^^xsd:string ; oboInOwl:hasExactSynonym "NPHL1"^^xsd:string, "X-linked nephrolithiasis with renal failure"^^xsd:string, "X-linked recessive urolithiasis type 1"^^xsd:string, "XRN"^^xsd:string, "nephrolithiasis 1"^^xsd:string, "nephrolithiasis X-linked recessive type 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111798"^^xsd:string ; a owl:Class ; rdfs:label "X-linked nephrolithiasis type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111799 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0111810"^^xsd:string ; oboInOwl:hasBroadSynonym "syndromic microphthalmia 4"^^xsd:string ; oboInOwl:hasDbXref "GARD:5066"^^xsd:string, "GARD:87"^^xsd:string, "MESH:C564457"^^xsd:string, "OMIM:309800"^^xsd:string, "ORDO:568"^^xsd:string, "ORDO:85275"^^xsd:string, "UMLS_CUI:C1844948"^^xsd:string ; oboInOwl:hasExactSynonym "Lenz dysplasia"^^xsd:string, "Lenz microphthalmia"^^xsd:string, "Lenz type microphthalmia"^^xsd:string, "MCOPS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111799"^^xsd:string ; a owl:Class ; rdfs:comment "In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]"^^xsd:string ; rdfs:label "syndromic microphthalmia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] ; skos:exactMatch "MESH:C537464"^^xsd:string, "MESH:C564457"^^xsd:string . obo:DOID_0111800 obo:IAO_0000115 "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13235"^^xsd:string, "OMIM:615524"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS12"^^xsd:string, "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111800"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111801 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:1443"^^xsd:string, "MESH:C565948"^^xsd:string, "OMIM:206900"^^xsd:string, "ORDO:77298"^^xsd:string, "SNOMEDCT_US_2021_03_01:698851003"^^xsd:string, "UMLS_CUI:C1859773"^^xsd:string ; oboInOwl:hasExactSynonym "AEG syndrome"^^xsd:string, "MCOPS3"^^xsd:string, "SOX2 anophthalmia syndrome"^^xsd:string, "anophthalmia clinical with associated anomalies"^^xsd:string, "anophthalmia esophageal genital syndrome"^^xsd:string, "anophthalmia microphthalmia esophageal atresia"^^xsd:string, "anophthalmia/microphthalmia-esophageal atresia syndrome"^^xsd:string, "microphthalmia and esophageal atresia syndrome"^^xsd:string, "syndromic microphthalmia type 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111801"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111802 obo:IAO_0000115 "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615877"^^xsd:string, "ORDO:424099"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS14"^^xsd:string, "MCSKS"^^xsd:string, "colobomatous microphthalmia-rhizomelic dysplasia syndrome"^^xsd:string, "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia"^^xsd:string, "microphthalmia/coloboma and skeletal dysplasia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111802"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111803 obo:IAO_0000115 "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3693"^^xsd:string, "MESH:C537686"^^xsd:string, "OMIM:601349"^^xsd:string, "ORDO:3434"^^xsd:string, "UMLS_CUI:C1832440"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS8"^^xsd:string, "MMEP syndrome"^^xsd:string, "Viljoen-Smart syndrome"^^xsd:string, "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome"^^xsd:string, "syndromic microphthalmia type 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111803"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111804 obo:IAO_0000115 "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614402"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111804"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0080636 . obo:DOID_0111805 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3645"^^xsd:string, "MESH:C566440"^^xsd:string, "OMIM:607932"^^xsd:string, "ORDO:139471"^^xsd:string, "UMLS_CUI:C1864689"^^xsd:string ; oboInOwl:hasExactSynonym "Bakrania-Ragge syndrome"^^xsd:string, "MCOPS6"^^xsd:string, "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia"^^xsd:string, "microphthalmia and pituitary anomalies"^^xsd:string, "microphthalmia with brain and digit anomalies"^^xsd:string, "syndromic microphthalmia type 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111805"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111806 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3692"^^xsd:string, "MESH:C566441"^^xsd:string, "OMIM:610125"^^xsd:string, "ORDO:178364"^^xsd:string, "UMLS_CUI:C1864690"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS5"^^xsd:string, "syndromic microphthalmia type 5"^^xsd:string, "syndromic microphthalmia/anophthalmia due to OTX2 mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111806"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111807 obo:IAO_0000115 "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050819"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537768"^^xsd:string, "OMIM:601186"^^xsd:string, "ORDO:2470"^^xsd:string, "SNOMEDCT_US_2021_03_01:722458000"^^xsd:string, "UMLS_CUI:C1832661"^^xsd:string ; oboInOwl:hasExactSynonym "Matthew-Wood syndrome"^^xsd:string, "anophthalmia-pulmonary hypoplasia syndrome"^^xsd:string, "anophthalmia/microphthalmia and pulmonary hypoplasia"^^xsd:string, "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations"^^xsd:string, "pulmonary agenesis microphthalmi and diaphragmatic defect"^^xsd:string, "spear syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111807"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111808 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537466"^^xsd:string, "OMIM:309801"^^xsd:string, "SNOMEDCT_US_2020_03_01:721879006"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS7"^^xsd:string, "MIDAS syndrome"^^xsd:string, "MLS syndrome"^^xsd:string, "microphthalmia-dermal aplasia-sclerocornea syndrome"^^xsd:string, "syndromic microphthalmia 7"^^xsd:string, "syndromic microphthalmia type 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111808"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111809 obo:IAO_0000115 "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:4628"^^xsd:string, "MESH:C537465"^^xsd:string, "OMIM:300166"^^xsd:string, "ORDO:2712"^^xsd:string, "SNOMEDCT_US_2021_03_01:699300009"^^xsd:string, "UMLS_CUI:C1846265"^^xsd:string ; oboInOwl:hasExactSynonym "ANOP2"^^xsd:string, "MAA2"^^xsd:string, "MCOPS2"^^xsd:string, "OFCD syndrome"^^xsd:string, "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome"^^xsd:string, "microphthalmia cataracts radiculomegaly and septal heart defects"^^xsd:string, "oculofaciocardiodental syndrome"^^xsd:string, "syndromic microphthalmia type 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111809"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111810 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28."^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete syndromic microphthalmia 4"^^xsd:string ; owl:deprecated true . obo:DOID_0111811 obo:IAO_0000115 "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300915"^^xsd:string, "ORDO:431140"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS13"^^xsd:string, "Maine microphthalmos"^^xsd:string, "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"^^xsd:string, "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111811"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111812 obo:IAO_0000115 "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:9292"^^xsd:string, "OMIM:611222"^^xsd:string, "ORDO:77299"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS10"^^xsd:string, "MOBA"^^xsd:string, "microphthalmia-brain atrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111812"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0080636 . obo:DOID_0111813 obo:IAO_0000115 "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3559"^^xsd:string, "MESH:C564100"^^xsd:string, "OMIM:309630"^^xsd:string, "ORDO:2498"^^xsd:string, "SNOMEDCT_US_2021_03_01:715442006"^^xsd:string, "UMLS_CUI:C1839728"^^xsd:string ; oboInOwl:hasExactSynonym "fusion of metacarpals 4 and 5"^^xsd:string, "metacarpal 4-5 fusion"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111813"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111814 obo:IAO_0000115 "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309541"^^xsd:string, "ORDO:369962"^^xsd:string ; oboInOwl:hasExactSynonym "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"^^xsd:string, "mental retardation, X-linked 3"^^xsd:string, "methylmalonic aciduria with homocystinuria, type cblX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111814"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia and homocysteinemia cblX type"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111815 obo:IAO_0000115 "A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308990"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111815"^^xsd:string ; a owl:Class ; rdfs:label "low molecular weight proteinuria with hypercalciuric nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050699 . obo:DOID_0111816 obo:IAO_0000115 "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:5081"^^xsd:string, "OMIM:185900"^^xsd:string, "ORDO:93402"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY1"^^xsd:string, "chromosome 2q35 duplication syndrome"^^xsd:string, "syndactyly, type 1, with or without craniosynostosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111816"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11193, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0111817 obo:IAO_0000115 "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in GJA1 on chromosome 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5088"^^xsd:string, "MESH:C538154"^^xsd:string, "OMIM:186100"^^xsd:string, "ORDO:93404"^^xsd:string, "SNOMEDCT_US_2021_03_01:715725001"^^xsd:string, "UMLS_CUI:C1861366"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY3"^^xsd:string, "ringand little finger syndactyly"^^xsd:string, "syndactyly of fingers 4 and 5"^^xsd:string, "syndactyly, type III"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111817"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111818 obo:IAO_0000115 "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4434"^^xsd:string, "MESH:C566092"^^xsd:string, "OMIM:186200"^^xsd:string, "ORDO:93405"^^xsd:string, "SNOMEDCT_US_2021_03_01:719158007"^^xsd:string, "UMLS_CUI:C1861355"^^xsd:string ; oboInOwl:hasExactSynonym "Haas type syndactyly"^^xsd:string, "SDTY4"^^xsd:string, "polysyndactyly, Haas type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111818"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111819 obo:IAO_0000115 "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5089"^^xsd:string, "MESH:C538155"^^xsd:string, "OMIM:186300"^^xsd:string, "ORDO:93406"^^xsd:string, "SNOMEDCT_US_2021_03_01:719159004"^^xsd:string, "UMLS_CUI:C1861348"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY5"^^xsd:string, "syndactyly with associated metacarpal and metatarsal fusion"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111819"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111820 obo:IAO_0000115 "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609815"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111820"^^xsd:string ; a owl:Class ; rdfs:label "zygodactyly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_0111821 obo:IAO_0000115 "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:2952"^^xsd:string, "MESH:C536085"^^xsd:string, "OMIM:308205"^^xsd:string, "ORDO:2273"^^xsd:string, "UMLS_CUI:C1839988"^^xsd:string ; oboInOwl:hasExactSynonym "IFAP syndrome 1"^^xsd:string, "IFAP syndrome 1 with or without BRESHECK syndrome"^^xsd:string, "ichthyosis follicularis-atrichia-photophobia syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111821"^^xsd:string ; a owl:Class ; rdfs:label "ichthyosis follicularis-alopecia-photophobia syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011368 ] . obo:DOID_0111822 obo:IAO_0000115 "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:6039"^^xsd:string, "MESH:C562515"^^xsd:string, "OMIM:308050"^^xsd:string, "ORDO:139"^^xsd:string, "SNOMEDCT_US_2021_03_01:17608003"^^xsd:string, "UMLS_CUI:C0265267"^^xsd:string ; oboInOwl:hasExactSynonym "CHILD nevus"^^xsd:string, "congenital hemidysplasia with ichthyosiform nevus and limbs defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111822"^^xsd:string ; a owl:Class ; rdfs:label "CHILD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111823 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:134500"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal Factor VIII deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111823"^^xsd:string ; a owl:Class ; rdfs:label "autosomal hemophilia A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111824 obo:IAO_0000115 "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature."^^xsd:string ; oboInOwl:hasDbXref "ORDO:915"^^xsd:string ; oboInOwl:hasExactSynonym "Aarskog-Scott syndrome"^^xsd:string, "faciodigitogenital syndrome"^^xsd:string, "faciogenital dysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111824"^^xsd:string ; a owl:Class ; rdfs:label "Aarskog syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111825 obo:IAO_0000115 "An Aarskog syndrome characterized by autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:100050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111825"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Aarskog syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111824, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111826 obo:IAO_0000115 "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:360"^^xsd:string, "MESH:C535559"^^xsd:string, "OMIM:302905"^^xsd:string, "ORDO:921"^^xsd:string, "SNOMEDCT_US_2021_03_01:718574003"^^xsd:string, "UMLS_CUI:C1844862"^^xsd:string ; oboInOwl:hasExactSynonym "CHARGE-like syndrome, X-linked"^^xsd:string, "cleft palate-coloboma-deafness syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111826"^^xsd:string ; a owl:Class ; rdfs:label "Abruzzo-Erickson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111827 obo:IAO_0000115 "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8521"^^xsd:string, "MESH:C535380"^^xsd:string, "OMIM:301830"^^xsd:string, "ORDO:1145"^^xsd:string, "SNOMEDCT_US_2021_03_01:719836007"^^xsd:string, "UMLS_CUI:C1844934"^^xsd:string ; oboInOwl:hasExactSynonym "SMAX2"^^xsd:string, "X-linked distal arthrogryposis multiplex congenita"^^xsd:string, "X-linked spinal muscular atrophy type 2"^^xsd:string, "infantile-onset X-linked spinal muscular atrophy"^^xsd:string, "spinal muscular atrophy with arthrogryposis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111827"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinal muscular atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111828 obo:IAO_0000115 "A hereditary ataxia characterized by X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:247765"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111828"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050953 . obo:DOID_0111829 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:302500"^^xsd:string, "ORDO:1175"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX1"^^xsd:string, "X-linked progressive cerebellar ataxia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111829"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111830 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9978"^^xsd:string, "OMIM:302600"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX2"^^xsd:string, "cerebellar ataxia with extrapyramidal involvement early-onset"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111830"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111831 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9981"^^xsd:string, "MESH:C537315"^^xsd:string, "OMIM:301790"^^xsd:string, "ORDO:85297"^^xsd:string, "SNOMEDCT_US_2020_03_01:719817002"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX3"^^xsd:string, "X-linked ataxia-deafness syndrome"^^xsd:string, "X-linked spinocerebellar ataxia type 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111831"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111832 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9980"^^xsd:string, "MESH:C537316"^^xsd:string, "OMIM:301840"^^xsd:string, "ORDO:85292"^^xsd:string, "SNOMEDCT_US_2020_03_01:719818007"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX4"^^xsd:string, "X-linked ataxia-dementia syndrome"^^xsd:string, "X-linked spinocerebellar ataxia type 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111832"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111833 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300703"^^xsd:string, "ORDO:314978"^^xsd:string, "SNOMEDCT_US_2018_03_01:766818009"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX5"^^xsd:string, "X-linked non progressive cerebellar ataxia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111833"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111834 obo:IAO_0000115 "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564461"^^xsd:string, "OMIM:301220"^^xsd:string, "ORDO:85453"^^xsd:string, "UMLS_CUI:C1845050"^^xsd:string ; oboInOwl:hasExactSynonym "PDR"^^xsd:string, "Partington disease"^^xsd:string, "X-linked reticulate pigmentary disorder with systemic manifestations"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111834"^^xsd:string ; a owl:Class ; rdfs:label "X-linked reticulate pigmentary disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10123, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111835 obo:IAO_0000115 "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in IRS4 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301035"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111835"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111836 obo:IAO_0000115 "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618573"^^xsd:string, "ORDO:99832"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG7"^^xsd:string, "TRH resistance syndrome"^^xsd:string, "central hypothyroidism due to TRH receptor deficiency"^^xsd:string, "resistance to thyrotropin-releasing hormone syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111836"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111837 obo:IAO_0000115 "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in TBL1X on chromosome Xp22.3-p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301033"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111837"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111838 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in MSL3 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301032"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS36"^^xsd:string, "X-linked syndromic mental retardation 36"^^xsd:string, "X-linked syndromic mental retardation Basilicata-Akhtar type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111838"^^xsd:string ; a owl:Class ; rdfs:label "Basilicata-Akhtar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0111839 obo:IAO_0000115 "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301031"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Icc"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111839"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Icc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111840 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301030"^^xsd:string, "ORDO:163976"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSVEOD"^^xsd:string, "VEODS"^^xsd:string, "X-linked intellectual disability, Van Esch type"^^xsd:string, "X-linked syndromic mental retardation Van Esch-O'Driscoll type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111840"^^xsd:string ; a owl:Class ; rdfs:label "Van Esch-O'Driscoll syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111841 obo:IAO_0000115 "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301029"^^xsd:string ; oboInOwl:hasExactSynonym "SHUVER"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111841"^^xsd:string ; a owl:Class ; rdfs:label "Shukla-Vernon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111842 obo:IAO_0000115 "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:267"^^xsd:string, "MESH:C538337"^^xsd:string, "OMIM:301026"^^xsd:string, "ORDO:2662"^^xsd:string, "SNOMEDCT_US_2021_03_01:763774001"^^xsd:string, "UMLS_CUI:C1850627"^^xsd:string ; oboInOwl:hasExactSynonym "KPTS"^^xsd:string, "nasodigitoacoustic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111842"^^xsd:string ; a owl:Class ; rdfs:label "Keipert syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111843 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301025"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSPM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111843"^^xsd:string ; a owl:Class ; rdfs:label "Paganini-Miozzo syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111844 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in SLC9A7 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301024"^^xsd:string ; oboInOwl:hasExactSynonym "MRX108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111844"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual developmental disorder 108"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111845 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301022"^^xsd:string ; oboInOwl:hasExactSynonym "MKMS"^^xsd:string, "NEDXCF"^^xsd:string, "X-linked neurodevelopmental disorder with craniofacial abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111845"^^xsd:string ; a owl:Class ; rdfs:label "Mullegama-Klein-Martinez syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0111846 obo:IAO_0000115 "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in ATP11C on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301015"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111846"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_589, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111847 obo:IAO_0000115 "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301014"^^xsd:string ; oboInOwl:hasExactSynonym "OI19"^^xsd:string, "osteogenesis imperfecta type XIX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111847"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111848 obo:IAO_0000115 "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617952"^^xsd:string ; oboInOwl:hasExactSynonym "OI18"^^xsd:string, "osteogenesis imperfecta, type XVIII"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111848"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111849 obo:IAO_0000115 "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618644"^^xsd:string ; oboInOwl:hasExactSynonym "OI20"^^xsd:string, "osteogenesis imperfecta type XX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111849"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111850 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in PIH1D3 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300991"^^xsd:string ; oboInOwl:hasExactSynonym "CILD36"^^xsd:string, "X-linked primary ciliary dyskinesia 36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111850"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 36"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0111851 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618781"^^xsd:string ; oboInOwl:hasExactSynonym "CILD44"^^xsd:string, "primary ciliary dyskinesia 44 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111851"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111852 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618063"^^xsd:string ; oboInOwl:hasExactSynonym "CILD38"^^xsd:string, "primary ciliary dyskinesia 38 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111852"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111853 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618300"^^xsd:string ; oboInOwl:hasExactSynonym "CILD40"^^xsd:string, "primary ciliary dyskinesia 40 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111853"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111854 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618254"^^xsd:string ; oboInOwl:hasExactSynonym "CILD39"^^xsd:string, "primary ciliary dyskinesia 39 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111854"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111855 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618695"^^xsd:string ; oboInOwl:hasExactSynonym "CILD42"^^xsd:string, "primary ciliary dyskinesia 42 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111855"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111856 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618699"^^xsd:string ; oboInOwl:hasExactSynonym "CILD43"^^xsd:string, "primary ciliary dyskinesia 43 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111856"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111857 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618801"^^xsd:string ; oboInOwl:hasExactSynonym "CILD45"^^xsd:string, "primary ciliary dyskinesia 45 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111857"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111858 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618449"^^xsd:string ; oboInOwl:hasExactSynonym "CILD41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111858"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111859 obo:IAO_0000115 "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in AMMECR1 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300990"^^xsd:string ; oboInOwl:hasExactSynonym "MFHIEN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111859"^^xsd:string ; a owl:Class ; rdfs:label "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111860 obo:IAO_0000115 "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564570"^^xsd:string, "OMIM:300194"^^xsd:string, "ORDO:86818"^^xsd:string, "SNOMEDCT_US_2021_03_01:720982007"^^xsd:string, "UMLS_CUI:C1846242"^^xsd:string ; oboInOwl:hasExactSynonym "AMME syndrome"^^xsd:string, "ATS-MR"^^xsd:string, "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"^^xsd:string, "chromosome Xq22.3 telomeric deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111860"^^xsd:string ; a owl:Class ; rdfs:label "AMME complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111861 obo:IAO_0000115 "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300989"^^xsd:string ; oboInOwl:hasExactSynonym "MRLS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111861"^^xsd:string ; a owl:Class ; rdfs:label "Meester-Loeys syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111862 obo:IAO_0000115 "An azoospermia characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility."^^xsd:string ; oboInOwl:hasDbXref "ORDO:48"^^xsd:string ; oboInOwl:hasExactSynonym "CAVD"^^xsd:string, "CBAVD"^^xsd:string, "congenital bilateral agenesis of vas deferens"^^xsd:string, "congenital bilateral aplasia of vas deferens"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111862"^^xsd:string ; a owl:Class ; rdfs:label "congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080015, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111863 obo:IAO_0000115 "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in ADGRG2 on chromosome Xp22.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300985"^^xsd:string ; oboInOwl:hasExactSynonym "CBAVDX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111863"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0111862, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111864 obo:IAO_0000115 "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in CFTR on chromosome 7q31.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111864"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111862, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111865 obo:IAO_0000115 "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300960"^^xsd:string, "ORDO:401973"^^xsd:string, "UMLS_CUI:C4085243"^^xsd:string ; oboInOwl:hasExactSynonym "male EBP disorder with neurological defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111865"^^xsd:string ; a owl:Class ; rdfs:label "MEND syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111866 obo:IAO_0000115 "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054463"^^xsd:string, "NCI:C4924"^^xsd:string, "ORDO:33364"^^xsd:string, "SNOMEDCT_US_2021_03_01:723551003"^^xsd:string, "UMLS_CUI:C1955934"^^xsd:string ; oboInOwl:hasExactSynonym "TTD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111866"^^xsd:string ; a owl:Class ; rdfs:label "trichothiodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111867 obo:IAO_0000115 "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111867"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0111866 . obo:DOID_0111868 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in RNF113A on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054463"^^xsd:string, "NCI:C156433"^^xsd:string, "OMIM:300953"^^xsd:string ; oboInOwl:hasExactSynonym "TTD5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111868"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111869 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC3 on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616390"^^xsd:string ; oboInOwl:hasExactSynonym "TTD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111869"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111870 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in TARS1 on chromosome 5p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618546"^^xsd:string ; oboInOwl:hasExactSynonym "TTD7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111870"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111871 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616395"^^xsd:string ; oboInOwl:hasExactSynonym "TTD3"^^xsd:string, "trichothiodystrophy complementation group A"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111871"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111872 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2E2 on chromosome 8p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616943"^^xsd:string ; oboInOwl:hasExactSynonym "TTD6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111872"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111873 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C156433"^^xsd:string, "OMIM:601675"^^xsd:string ; oboInOwl:hasExactSynonym "TTD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111873"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111874 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536320"^^xsd:string, "OMIM:211390"^^xsd:string, "ORDO:3123"^^xsd:string ; oboInOwl:hasExactSynonym "brittle hair-mental deficiency syndrome"^^xsd:string, "trichothiodystrophy type B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111874"^^xsd:string ; a owl:Class ; rdfs:label "Sabinas brittle hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0111867 . obo:DOID_0111875 obo:IAO_0000115 "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309801"^^xsd:string ; oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111875"^^xsd:string ; a owl:Class ; rdfs:label "MLS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111876 obo:IAO_0000115 "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300952"^^xsd:string ; oboInOwl:hasExactSynonym "LSDMCA3"^^xsd:string, "linear skin defects with cardiomyopathy and other congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111876"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111877 obo:IAO_0000115 "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300887"^^xsd:string ; oboInOwl:hasExactSynonym "APLCC"^^xsd:string, "LSDMCA2"^^xsd:string, "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111877"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111878 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567254"^^xsd:string, "OMIM:612562"^^xsd:string ; oboInOwl:hasExactSynonym "DBA7"^^xsd:string, "RPL11-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111878"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111879 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538442"^^xsd:string, "OMIM:612561"^^xsd:string ; oboInOwl:hasExactSynonym "DBA6"^^xsd:string, "RPL5-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111879"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111880 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617409"^^xsd:string ; oboInOwl:hasExactSynonym "DBA17"^^xsd:string, "RPS27-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111880"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111881 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS7 on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567253"^^xsd:string, "OMIM:612563"^^xsd:string ; oboInOwl:hasExactSynonym "DBA8"^^xsd:string, "RPS7-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111881"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111882 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL15 on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615550"^^xsd:string ; oboInOwl:hasExactSynonym "DBA12"^^xsd:string, "RPL15-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111882"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111883 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567280"^^xsd:string, "OMIM:612528"^^xsd:string ; oboInOwl:hasExactSynonym "DBA5"^^xsd:string, "RPL35A-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111883"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111884 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS10 on chromosome 6p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567650"^^xsd:string, "OMIM:613308"^^xsd:string ; oboInOwl:hasExactSynonym "DBA9"^^xsd:string, "RPS10-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111884"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111885 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536130"^^xsd:string, "OMIM:606129"^^xsd:string ; oboInOwl:hasExactSynonym "DBA2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111885"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111886 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618312"^^xsd:string ; oboInOwl:hasExactSynonym "DBA19"^^xsd:string, "RPL35-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111886"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111887 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS24 on chromosome 10q22.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536355"^^xsd:string, "OMIM:610629"^^xsd:string ; oboInOwl:hasExactSynonym "DBA3"^^xsd:string, "RPS24-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111887"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-blackfan anemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111888 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS26 on chromosome 12q13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567649"^^xsd:string, "OMIM:613309"^^xsd:string ; oboInOwl:hasExactSynonym "DBA10"^^xsd:string, "RPS26-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111888"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111889 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS29 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615909"^^xsd:string ; oboInOwl:hasExactSynonym "DBA13"^^xsd:string, "RPS29-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111889"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111890 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567281"^^xsd:string, "OMIM:612527"^^xsd:string ; oboInOwl:hasExactSynonym "DBA4"^^xsd:string, "RPS17-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111890"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111891 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618313"^^xsd:string ; oboInOwl:hasExactSynonym "DBA20"^^xsd:string, "RPS15A-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111891"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111892 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614900"^^xsd:string ; oboInOwl:hasExactSynonym "DBA11"^^xsd:string, "RPL26-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111892"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111893 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617408"^^xsd:string ; oboInOwl:hasExactSynonym "DBA16"^^xsd:string, "RPL27-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111893"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111894 obo:IAO_0000115 "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606164"^^xsd:string ; oboInOwl:hasExactSynonym "DBA15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111894"^^xsd:string ; a owl:Class ; rdfs:label "Diamond Blackfan anemia 15 with mandibulofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111895 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567302"^^xsd:string, "OMIM:105650"^^xsd:string ; oboInOwl:hasExactSynonym "DBA1"^^xsd:string, "RPS19-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111895"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111896 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL18 on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618310"^^xsd:string ; oboInOwl:hasExactSynonym "DBA18"^^xsd:string, "RPL18-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111896"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111897 obo:IAO_0000115 "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300946"^^xsd:string ; oboInOwl:hasExactSynonym "DBA14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111897"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111898 obo:IAO_0000115 "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300831"^^xsd:string, "ORDO:251383"^^xsd:string, "SNOMEDCT_US_2021_03_01:773329005"^^xsd:string, "UMLS_CUI:C3151781"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111898"^^xsd:string ; a owl:Class ; rdfs:label "CK syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111899 obo:IAO_0000115 "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567581"^^xsd:string, "OMIM:300807"^^xsd:string, "UMLS_CUI:C2749016"^^xsd:string ; oboInOwl:hasExactSynonym "THPH8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111899"^^xsd:string ; a owl:Class ; rdfs:label "X-linked thrombophilia due to factor IX defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111900 obo:IAO_0000115 "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612336"^^xsd:string, "UMLS_CUI:C3278211"^^xsd:string ; oboInOwl:hasExactSynonym "THPH5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111900"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant thrombophilia due to protein S deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111901 obo:IAO_0000115 "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562865"^^xsd:string, "OMIM:612356"^^xsd:string, "SNOMEDCT_US_2021_03_01:234468009"^^xsd:string, "UMLS_CUI:C0398626"^^xsd:string ; oboInOwl:hasExactSynonym "HCF 2 deficiency"^^xsd:string, "HCF II deficiency"^^xsd:string, "THPH10"^^xsd:string, "thrombophilia due to heparin cofactor II deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111901"^^xsd:string ; a owl:Class ; rdfs:label "heparin cofactor II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111902 obo:IAO_0000115 "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566056"^^xsd:string, "OMIM:188055"^^xsd:string, "UMLS_CUI:C1861171"^^xsd:string ; oboInOwl:hasExactSynonym "APC resistance"^^xsd:string, "PCCF deficiency"^^xsd:string, "PROC cofactor deficiency"^^xsd:string, "THPH2"^^xsd:string, "activated protein C resistance"^^xsd:string, "thrombophilia V"^^xsd:string, "thrombophilia due to deficiency of activated protein C cofactor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111902"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to activated protein C resistance"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111903 obo:IAO_0000115 "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613116"^^xsd:string, "ORDO:217467"^^xsd:string, "UMLS_CUI:C2751090"^^xsd:string ; oboInOwl:hasExactSynonym "THPH11"^^xsd:string, "hereditary thrombophilia due to congenital HRG deficiency"^^xsd:string, "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111903"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to HRG deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111904 obo:IAO_0000115 "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567353"^^xsd:string, "OMIM:612304"^^xsd:string, "UMLS_CUI:C2676759"^^xsd:string ; oboInOwl:hasExactSynonym "THPH4"^^xsd:string, "autosomal recessive PROC deficiency"^^xsd:string, "autosomal recessive protein C deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111904"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive thrombophilia due to protein C deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3756, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111905 obo:IAO_0000115 "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614514"^^xsd:string, "ORDO:743"^^xsd:string, "UMLS_CUI:C3281092"^^xsd:string ; oboInOwl:hasExactSynonym "THPH6"^^xsd:string, "autosomal recessive thrombophilia due to congenital protein S deficiency"^^xsd:string, "severe hereditary thrombophilia due to congenital protein S deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111905"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive thrombophilia due to protein S deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111906 obo:IAO_0000115 "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567341"^^xsd:string, "OMIM:612348"^^xsd:string, "UMLS_CUI:C2676721"^^xsd:string ; oboInOwl:hasExactSynonym "THPH9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111906"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to decreased release of PLAT"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_0111907 obo:IAO_0000115 "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10815"^^xsd:string, "OMIM:188050"^^xsd:string, "UMLS_CUI:C3160733"^^xsd:string ; oboInOwl:hasExactSynonym "THPH1"^^xsd:string, "prothrombin-related thrombophilia"^^xsd:string, "thrombophilia due to factor 2 defect"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111907"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to thrombin defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111908 obo:IAO_0000115 "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566057"^^xsd:string, "OMIM:614486"^^xsd:string, "ORDO:436169"^^xsd:string, "UMLS_CUI:C3280976"^^xsd:string ; oboInOwl:hasExactSynonym "THBD-related bleeding disorder"^^xsd:string, "THBD-related coagulopathy"^^xsd:string, "THPH12"^^xsd:string, "thrombomodulin-related bleeding disorder"^^xsd:string, "thrombomodulin-related coagulopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111908"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to thrombomodulin defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111909 obo:IAO_0000115 "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567163"^^xsd:string, "OMIM:176860"^^xsd:string, "UMLS_CUI:C2674321"^^xsd:string ; oboInOwl:hasExactSynonym "THPH3"^^xsd:string, "autosomal dominant PROC deficiency"^^xsd:string, "autosomal dominant protein C deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111909"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant thrombophilia due to protein C deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3756, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111910 obo:IAO_0000115 "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS258150"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111910"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0111911 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618153"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111911"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111912 obo:IAO_0000115 "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618670"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111912"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111913 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618110"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111913"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111914 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in QRICH2 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618341"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111914"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111915 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618152"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111915"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111916 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in FANCM on chromosome 14q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618086"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111916"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111917 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618751"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111917"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111918 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618664"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111918"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111919 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618433"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF38"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111919"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111920 obo:IAO_0000115 "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617960"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111920"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111921 obo:IAO_0000115 "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in PPP2R3C on chromosome 14q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618420"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111921"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111922 obo:IAO_0000115 "A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618112"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111922"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111923 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618745"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111923"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111924 obo:IAO_0000115 "A spermatogenic failure characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617961"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111924"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111925 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in SOHLH1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618115"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111925"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111926 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in DNAH17 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618643"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF39"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111926"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111927 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC21A on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618429"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111927"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111928 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617965"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111928"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111929 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617959"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111929"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111930 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618091"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111930"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111931 obo:IAO_0000115 "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in FAM58A on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:10295"^^xsd:string, "MESH:C567475"^^xsd:string, "OMIM:300707"^^xsd:string, "ORDO:140952"^^xsd:string, "SNOMEDCT_US_2021_03_01:723581006"^^xsd:string, "UMLS_CUI:C2678045"^^xsd:string ; oboInOwl:hasExactSynonym "STAR syndrome"^^xsd:string, "syndactyly with renal and anogenital malformations"^^xsd:string, "toe syndactyly, telecanthus, and anogenital and renal malformations"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111931"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly-telecanthus-anogenital and renal malformations syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111932 obo:IAO_0000115 "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566878"^^xsd:string, "NCI:C132293"^^xsd:string, "OMIM:300673"^^xsd:string, "ORDO:209370"^^xsd:string, "SNOMEDCT_US_2021_03_01:711487002"^^xsd:string, "UMLS_CUI:C1968556"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal severe encephalopathy due to MECP2 mutations"^^xsd:string, "severe neonatal-onset encephalopathy with microcephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111932"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital encephalopathy due to MECP2 mutation"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080015, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111933 obo:IAO_0000115 "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7389"^^xsd:string, "MESH:C567067"^^xsd:string, "NCI:C126738"^^xsd:string, "OMIM:300653"^^xsd:string, "ORDO:713"^^xsd:string, "UMLS_CUI:C1970848"^^xsd:string ; oboInOwl:hasExactSynonym "GSD due to phosphoglycerate kinase 1 deficiency"^^xsd:string, "PGK1 deficiency"^^xsd:string, "glycogen storage disease due to phosphoglycerate kinase 1 deficiency"^^xsd:string, "glycogenosis due to phosphoglycerate kinase 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111933"^^xsd:string ; a owl:Class ; rdfs:label "phosphoglycerate kinase 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4194, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111934 obo:IAO_0000115 "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616126"^^xsd:string, "ORDO:319563"^^xsd:string ; oboInOwl:hasExactSynonym "IMD38"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"^^xsd:string, "autosomal recessive ISG15 deficiency"^^xsd:string, "immunodeficiency 38 with basal ganglia calcification"^^xsd:string, "immunodeficiency 38, mycobacteriosis, autosomal recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111934"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111935 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615593"^^xsd:string, "ORDO:431149"^^xsd:string, "UMLS_CUI:C3810053"^^xsd:string ; oboInOwl:hasExactSynonym "IMD16"^^xsd:string, "OX40 deficiency"^^xsd:string, "combined immunodeficiency due to OX40 deficiency"^^xsd:string, "combined immunodeficiency with childhood-onset Kaposi sarcoma"^^xsd:string, "combined immunodeficiency with impaired immunity to HHV-8"^^xsd:string, "combined immunodeficiency with impaired immunity to human herpes virus 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111935"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111936 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "GARD:11983"^^xsd:string, "MESH:C585640"^^xsd:string, "OMIM:615513"^^xsd:string, "ORDO:397596"^^xsd:string, "SNOMEDCT_US_2021_03_01:711480000"^^xsd:string, "UMLS_CUI:C3714976"^^xsd:string ; oboInOwl:hasExactSynonym "APDS"^^xsd:string, "IMD14"^^xsd:string, "PASLI disease"^^xsd:string, "activated PI3K-delta syndrome"^^xsd:string, "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111936"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111937 obo:IAO_0000115 "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615758"^^xsd:string, "ORDO:280142"^^xsd:string, "UMLS_CUI:C4014233"^^xsd:string ; oboInOwl:hasExactSynonym "IMD22"^^xsd:string, "SCID due to LCK deficiency"^^xsd:string, "SCID due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string, "severe combined immunodeficiency due to LCK deficiency"^^xsd:string, "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111937"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111938 obo:IAO_0000115 "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615897"^^xsd:string, "ORDO:420573"^^xsd:string, "UMLS_CUI:C4014617"^^xsd:string ; oboInOwl:hasExactSynonym "IMD24"^^xsd:string, "SCID due to CTPS1 deficiency"^^xsd:string, "severe combined immunodeficiency due to CTPS1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111938"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111939 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616098"^^xsd:string, "UMLS_CUI:C4015195"^^xsd:string ; oboInOwl:hasExactSynonym "IMD37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111939"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111940 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616622"^^xsd:string, "ORDO:477857"^^xsd:string ; oboInOwl:hasExactSynonym "IMD42"^^xsd:string, "autosomal recessive MSMD due to complete RORgamma receptor defiency"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"^^xsd:string, "autosomal recessive primary immunodeficiency due to RORC mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111940"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111941 obo:IAO_0000115 "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615707"^^xsd:string, "ORDO:437552"^^xsd:string ; oboInOwl:hasExactSynonym "CD16 deficiency"^^xsd:string, "IMD20"^^xsd:string, "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity"^^xsd:string, "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111941"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111942 obo:IAO_0000115 "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565712"^^xsd:string, "OMIM:610163"^^xsd:string, "UMLS_CUI:C1857798"^^xsd:string ; oboInOwl:hasExactSynonym "IMD25"^^xsd:string, "immunodeficiency due to defect in CD3-zeta"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111942"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111943 obo:IAO_0000115 "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:387"^^xsd:string, "MESH:C537590"^^xsd:string, "OMIM:269840"^^xsd:string, "ORDO:911"^^xsd:string, "UMLS_CUI:C1849236"^^xsd:string ; oboInOwl:hasExactSynonym "IMD48"^^xsd:string, "combined immunodeficiency due to ZAP70 deficiency"^^xsd:string, "zeta-associated-protein 70 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111943"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111944 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613796"^^xsd:string, "ORDO:391311"^^xsd:string ; oboInOwl:hasExactSynonym "IMD31B"^^xsd:string, "autosomal recessive STAT1 deficiency"^^xsd:string, "autosomal recessive immunodeficiency 31B, mycobacterial and viral infections"^^xsd:string, "predisposition to severe viral infection due to STAT1 deficiency"^^xsd:string, "susceptibility to viral and mycobacterial infections due to STAT1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111944"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111945 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614892"^^xsd:string, "ORDO:319595"^^xsd:string ; oboInOwl:hasExactSynonym "IMD31A"^^xsd:string, "MSMD due to partial STAT1 deficiency"^^xsd:string, "MSMD due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string, "autosomal dominant immunodeficiency 31A, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111945"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111946 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614162"^^xsd:string, "ORDO:391487"^^xsd:string ; oboInOwl:hasExactSynonym "CANDF7"^^xsd:string, "IMD31C"^^xsd:string, "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"^^xsd:string, "autosomal dominant chronic mucocutaneous familial candidiasis"^^xsd:string, "autosomal dominant immunodeficiency 31C"^^xsd:string, "familial candidiasis 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111946"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111947 obo:IAO_0000115 "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10934"^^xsd:string, "MESH:D000077428"^^xsd:string, "NCI:C126349"^^xsd:string, "OMIM:614172"^^xsd:string, "ORDO:228423"^^xsd:string, "SNOMEDCT_US_2020_03_01:778024005"^^xsd:string ; oboInOwl:hasExactSynonym "DCML"^^xsd:string, "GATA2 deficiency"^^xsd:string, "IMD21"^^xsd:string, "MonoMAC"^^xsd:string, "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections"^^xsd:string, "dendritic cell, monocyte, B and NK lymphoid deficiency"^^xsd:string, "monocyte-B-natural killer-dendritic cell deficiency syndrome"^^xsd:string, "monocytopenia and mycobacterial infection syndrome"^^xsd:string, "monocytopenia with susceptibility to infections"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111947"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111948 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616740"^^xsd:string, "ORDO:476113"^^xsd:string, "UMLS_CUI:C4225219"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to TFRC deficiency"^^xsd:string, "IMD46"^^xsd:string, "TFRC-related combined immunodeficiency"^^xsd:string, "combined immunodeficiency due to TFRC deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111948"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111949 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616005"^^xsd:string, "UMLS_CUI:C4014934"^^xsd:string ; oboInOwl:hasExactSynonym "IMD36"^^xsd:string, "activated phosphoinositide 3-kinase delta syndrome 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111949"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111950 obo:IAO_0000115 "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614890"^^xsd:string, "ORDO:319558"^^xsd:string ; oboInOwl:hasExactSynonym "IL12B deficiency"^^xsd:string, "IMD29"^^xsd:string, "MSMD due to complete IL12B deficiency"^^xsd:string, "MSMD due to complete interleukin 12B deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"^^xsd:string, "immunodeficiency 29, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111950"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111951 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12653"^^xsd:string, "OMIM:616433"^^xsd:string, "ORDO:447737"^^xsd:string, "UMLS_CUI:C4225328"^^xsd:string ; oboInOwl:hasExactSynonym "DOCK2 deficiency"^^xsd:string, "IMD40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111951"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111952 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618108"^^xsd:string, "ORDO:529977"^^xsd:string ; oboInOwl:hasExactSynonym "IMD57"^^xsd:string, "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"^^xsd:string, "immunodeficiency 57 with autoinflammation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111952"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111953 obo:IAO_0000115 "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:4331"^^xsd:string, "OMIM:615816"^^xsd:string, "ORDO:443811"^^xsd:string, "UMLS_CUI:C4014371"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to PGM3 deficiency"^^xsd:string, "IMD23"^^xsd:string, "PGM3-CDG"^^xsd:string, "PGM3-related congenital disorder of glycosylation"^^xsd:string, "combined immunodeficiency due to PGM3 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111953"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111954 obo:IAO_0000115 "A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618394"^^xsd:string, "UMLS_CUI:C5193072"^^xsd:string ; oboInOwl:hasExactSynonym "BACH2-related immunodeficiency and autoimmunity"^^xsd:string, "BRIDA"^^xsd:string, "IMD60"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111954"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111955 obo:IAO_0000115 "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535530"^^xsd:string, "OMIM:209950"^^xsd:string, "ORDO:319569"^^xsd:string ; oboInOwl:hasExactSynonym "IMD27A"^^xsd:string, "autosomal recessive IFNGR1 deficiency"^^xsd:string, "autosomal recessive MSMD due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string, "autosomal recessive immunodeficiency 27A, mycobacteriosis"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111955"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 27A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111956 obo:IAO_0000115 "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615978"^^xsd:string, "ORDO:319581"^^xsd:string ; oboInOwl:hasExactSynonym "IMD27B"^^xsd:string, "autosomal dominant IFNGR1 deficiency"^^xsd:string, "autosomal dominant MSMD due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string, "autosomal dominant immunodeficiency 27B, mycobacteriosis"^^xsd:string, "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111956"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 27B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111957 obo:IAO_0000115 "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615206"^^xsd:string, "ORDO:357237"^^xsd:string, "UMLS_CUI:C3554686"^^xsd:string ; oboInOwl:hasExactSynonym "CARD11 deficiency"^^xsd:string, "IMD11A"^^xsd:string, "SCID due to CARD11 deficiency"^^xsd:string, "severe combined immunodeficiency due to CARD11 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111957"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111958 obo:IAO_0000115 "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617638"^^xsd:string, "UMLS_CUI:C4539957"^^xsd:string ; oboInOwl:hasExactSynonym "IMD11B"^^xsd:string, "atopic dermatitis, elevated IgE, and eosinophilia"^^xsd:string, "immunodeficiency 11B with atopic dermatitis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111958"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 11B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111959 obo:IAO_0000115 "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615592"^^xsd:string, "UMLS_CUI:C4747743"^^xsd:string ; oboInOwl:hasExactSynonym "IMD15B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111959"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 15B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111960 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618204"^^xsd:string, "UMLS_CUI:C4748694"^^xsd:string ; oboInOwl:hasExactSynonym "IMD15A"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111960"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 15A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111961 obo:IAO_0000115 "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615966"^^xsd:string, "ORDO:317425"^^xsd:string, "UMLS_CUI:C4014833"^^xsd:string ; oboInOwl:hasExactSynonym "IMD26"^^xsd:string, "SCID due to DNA-PKcs deficiency"^^xsd:string, "immunodeficiency 26, with or without neurologic abnormalities"^^xsd:string, "severe combined immunodeficiency due to DNA-PKcs deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111961"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111962 obo:IAO_0000115 "A primary immunodeficiency disease that involves multiple components of the immune system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111962"^^xsd:string ; a owl:Class ; rdfs:label "combined immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0111963 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111963"^^xsd:string ; a owl:Class ; rdfs:label "dendritic cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0111964 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111964"^^xsd:string ; a owl:Class ; rdfs:label "B cell and dendritic cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111965 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111965"^^xsd:string ; a owl:Class ; rdfs:label "T cell, B cell, and NK cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111966 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111966"^^xsd:string ; a owl:Class ; rdfs:label "monocyte, dendritic cell, and NK cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111967 obo:IAO_0000115 "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566492"^^xsd:string, "NCI:C123729"^^xsd:string, "OMIM:609981"^^xsd:string, "ORDO:75391"^^xsd:string, "UMLS_CUI:C1864947"^^xsd:string ; oboInOwl:hasExactSynonym "IMD54"^^xsd:string, "NKCD"^^xsd:string, "familial isolated natural killer cell deficiency"^^xsd:string, "primary immunodeficiency due to MCM4 deficiency"^^xsd:string, "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111967"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080709, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111968 obo:IAO_0000115 "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565232"^^xsd:string, "OMIM:606367"^^xsd:string, "ORDO:169100"^^xsd:string ; oboInOwl:hasExactSynonym "CD25 deficiency"^^xsd:string, "IL2RA deficiency"^^xsd:string, "IMD41"^^xsd:string, "immunodeficiency 41 with lymphoproliferation and autoimmunity"^^xsd:string, "immunodeficiency due to CD25 deficiency"^^xsd:string, "interleukin-2 receptor alpha chain deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111968"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111969 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616345"^^xsd:string ; oboInOwl:hasExactSynonym "IMD39"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111969"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111970 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557827"^^xsd:string, "OMIM:612783"^^xsd:string, "ORDO:317430"^^xsd:string, "UMLS_CUI:C2748557"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to STIM1 deficiency"^^xsd:string, "IMD10"^^xsd:string, "STIM1 deficiency"^^xsd:string, "combined immunodeficiency due to STIM1 deficiency"^^xsd:string, "immune dysfunction with T-cell inactivation due to calcium entry defect 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111970"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111971 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615615"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-epsilon deficiency"^^xsd:string, "IMD18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111971"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111972 obo:IAO_0000115 "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615617"^^xsd:string, "UMLS_CUI:C3810147"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-delta deficiency"^^xsd:string, "IMD19"^^xsd:string, "SCID T cell-negative, B cell-positive, NK cell-positive"^^xsd:string, "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111972"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111973 obo:IAO_0000115 "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615607"^^xsd:string, "UMLS_CUI:C3810107"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-gamma deficiency"^^xsd:string, "IMD17"^^xsd:string, "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive"^^xsd:string, "immunodeficiency 17, CD3 gamma deficient"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111973"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111974 obo:IAO_0000115 "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in HYOU1 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565535"^^xsd:string, "OMIM:233600"^^xsd:string, "UMLS_CUI:C1856263"^^xsd:string ; oboInOwl:hasExactSynonym "IMD59"^^xsd:string, "granulocytopenia with immunoglobin abnormality"^^xsd:string, "immunodeficiency 59 and hypoglycemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111974"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111964, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111975 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616636"^^xsd:string ; oboInOwl:hasExactSynonym "IMD44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111975"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111976 obo:IAO_0000115 "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557826"^^xsd:string, "OMIM:612782"^^xsd:string, "ORDO:317428"^^xsd:string, "UMLS_CUI:C2748568"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to ORAI1 deficiency"^^xsd:string, "IMD9"^^xsd:string, "combined immunodeficiency due to ORAI1 deficiency"^^xsd:string, "immune dysfunction with T-cell inactivation due to calcium entry defect 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111976"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111977 obo:IAO_0000115 "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615387"^^xsd:string, "ORDO:397959"^^xsd:string, "UMLS_CUI:C3809332"^^xsd:string ; oboInOwl:hasExactSynonym "IMD7"^^xsd:string, "TCR-alpha-beta-positive T-cell deficiency"^^xsd:string, "immunodeficiency 7, TCR-alpha/beta deficient"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111977"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111978 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618648"^^xsd:string ; oboInOwl:hasExactSynonym "IMD65"^^xsd:string, "immunodeficiency 65, susceptibility to viral infections"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111978"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111979 obo:IAO_0000115 "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617237"^^xsd:string, "UMLS_CUI:C4310656"^^xsd:string ; oboInOwl:hasExactSynonym "IMD49"^^xsd:string, "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"^^xsd:string, "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111979"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111980 obo:IAO_0000115 "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618534"^^xsd:string ; oboInOwl:hasExactSynonym "IMD64"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111980"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111965, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111981 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565476"^^xsd:string, "OMIM:241600"^^xsd:string ; oboInOwl:hasExactSynonym "B2M deficiency"^^xsd:string, "IMD43"^^xsd:string, "beta-2-microglobulin deficiency"^^xsd:string, "hypercatabolic hypoproteinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111981"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111982 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615207"^^xsd:string, "ORDO:357329"^^xsd:string, "UMLS_CUI:C3554687"^^xsd:string ; oboInOwl:hasExactSynonym "IL21R immunodeficiency"^^xsd:string, "IMD56"^^xsd:string, "combined immunodeficiency due to IL21R deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111982"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111983 obo:IAO_0000115 "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617514"^^xsd:string, "ORDO:504523"^^xsd:string, "UMLS_CUI:C4479588"^^xsd:string ; oboInOwl:hasExactSynonym "IMD52"^^xsd:string, "severe combined immunodeficiency due to LAT deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111983"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111984 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618131"^^xsd:string, "ORDO:542301"^^xsd:string, "UMLS_CUI:C4748304"^^xsd:string ; oboInOwl:hasExactSynonym "IMD58"^^xsd:string, "severe combined immunodeficiency due to CARMIL2 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111984"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111985 obo:IAO_0000115 "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:226990"^^xsd:string, "UMLS_CUI:C4016741"^^xsd:string ; oboInOwl:hasExactSynonym "IMD32B"^^xsd:string, "autosomal recessive IRF8 deficiency"^^xsd:string, "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111985"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 32B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111966, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111986 obo:IAO_0000115 "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614893"^^xsd:string, "ORDO:319600"^^xsd:string, "UMLS_CUI:C3808589"^^xsd:string ; oboInOwl:hasExactSynonym "IMD32A"^^xsd:string, "MSMD due to partial IRF8 deficiency"^^xsd:string, "MSMD due to partial interferon regulatory factor 8 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"^^xsd:string, "immunodeficiency 32A, mycobacteriosis, autosomal dominant"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111986"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 32A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111963, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111987 obo:IAO_0000115 "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12375"^^xsd:string, "OMIM:615518"^^xsd:string, "ORDO:228000"^^xsd:string, "UMLS_CUI:C3809768"^^xsd:string ; oboInOwl:hasExactSynonym "ICL"^^xsd:string, "IMD13"^^xsd:string, "idiopathic CD4 lymphopenia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111987"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111988 obo:IAO_0000115 "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615468"^^xsd:string, "ORDO:397964"^^xsd:string ; oboInOwl:hasExactSynonym "IMD12"^^xsd:string, "combined immunodeficiency due to MALT1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111988"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111989 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566928"^^xsd:string, "OMIM:611521"^^xsd:string, "ORDO:331226"^^xsd:string ; oboInOwl:hasExactSynonym "IMD35"^^xsd:string, "TYK2 deficiency"^^xsd:string, "autosomal recessiv HIES with atypical mycobacteriosis"^^xsd:string, "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis"^^xsd:string, "susceptibility to infection due to TYK2 deficiency"^^xsd:string, "tyrosine kinase 2 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111989"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111990 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614891"^^xsd:string, "ORDO:319552"^^xsd:string, "UMLS_CUI:C4013949"^^xsd:string ; oboInOwl:hasExactSynonym "IMD30"^^xsd:string, "MSMD due to complete IL12RB1 deficiency"^^xsd:string, "MSMD due to complete interleukin 12 receptor beta 1 deficiency"^^xsd:string, "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111990"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111991 obo:IAO_0000115 "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618459"^^xsd:string, "UMLS_CUI:C5193109"^^xsd:string ; oboInOwl:hasExactSynonym "IMD62"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111991"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111992 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617585"^^xsd:string, "UMLS_CUI:C4539811"^^xsd:string ; oboInOwl:hasExactSynonym "IMD53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111992"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111993 obo:IAO_0000115 "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617827"^^xsd:string, "ORDO:505227"^^xsd:string ; oboInOwl:hasExactSynonym "IMD55"^^xsd:string, "combined immunodeficiency due to GINS1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111993"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111994 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in IFNAR2 on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616669"^^xsd:string ; oboInOwl:hasExactSynonym "IMD45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111994"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111995 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614889"^^xsd:string, "ORDO:319547"^^xsd:string ; oboInOwl:hasExactSynonym "IFNGR2 deficiency"^^xsd:string, "IMD28"^^xsd:string, "MSMD due to complete IFNgammaR2 deficiency"^^xsd:string, "MSMD due to complete interferon gamma receptor 2 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"^^xsd:string, "immunodeficiency 28, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111995"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111996 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613953"^^xsd:string ; oboInOwl:hasExactSynonym "CANDF5"^^xsd:string, "IMD51"^^xsd:string, "familial candidiasis 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111996"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111997 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618495"^^xsd:string, "UMLS_CUI:C5193126"^^xsd:string ; oboInOwl:hasExactSynonym "IL2RB deficiency"^^xsd:string, "IMD63"^^xsd:string, "immunodeficiency 63 with lymphoproliferation and autoimmunity"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111997"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111998 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in MKL1 on chromosome 22q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618847"^^xsd:string ; oboInOwl:hasExactSynonym "IMD66"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111998"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111999 obo:IAO_0000115 "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538057"^^xsd:string, "OMIM:300310"^^xsd:string, "UMLS_CUI:C1845903"^^xsd:string ; oboInOwl:hasExactSynonym "IMD61"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111999"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112000 obo:IAO_0000115 "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567068"^^xsd:string, "OMIM:300645"^^xsd:string, "UMLS_CUI:C1970859"^^xsd:string ; oboInOwl:hasExactSynonym "AMCBX2"^^xsd:string, "IMD34"^^xsd:string, "X-linked MSMD due to CYBB deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"^^xsd:string, "familial atypical mycobacteriosis X-linked 2"^^xsd:string, "immunodeficiency 34, mycobacteriosis, X-linked"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112000"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3262, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112001 obo:IAO_0000115 "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300988"^^xsd:string, "ORDO:504530"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to Moesin deficiency"^^xsd:string, "IMD50"^^xsd:string, "MSN-related combined immunodeficiency"^^xsd:string, "X-linked Moesin-associated immunodeficiency"^^xsd:string, "combined immunodeficiency due to Moesin deficiency"^^xsd:string, "immunodeficiency 50 X linked recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112001"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112002 obo:IAO_0000115 "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300972"^^xsd:string, "UMLS_CUI:C4310819"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIs"^^xsd:string, "CDG2S"^^xsd:string, "CDGIIs"^^xsd:string, "IMD47"^^xsd:string, "congenital disorder of glycosylation type IIs"^^xsd:string, "immunodeficiency and hepatopathy with or without neurologic features"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112002"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0080012, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010978 ] . obo:DOID_0112003 obo:IAO_0000115 "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567070"^^xsd:string, "OMIM:300636"^^xsd:string ; oboInOwl:hasExactSynonym "IMD33"^^xsd:string, "X-linked MSMD due to IKBKG deficiency"^^xsd:string, "X-linked MSMD due to NEMO deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112003"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112004 obo:IAO_0000115 "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617718"^^xsd:string ; oboInOwl:hasExactSynonym "IMD71"^^xsd:string, "PLTEID"^^xsd:string, "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"^^xsd:string, "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112004"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112005 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in IVNS1ABP on chromosome 1q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618969"^^xsd:string ; oboInOwl:hasExactSynonym "IMD70"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112005"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112006 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618963"^^xsd:string ; oboInOwl:hasExactSynonym "IMD69"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112006"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112007 obo:IAO_0000115 "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in GPR101 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300943"^^xsd:string ; oboInOwl:hasExactSynonym "GH-secreting pituitary adenoma 2"^^xsd:string, "PITA2"^^xsd:string, "X-linked acromegaly"^^xsd:string, "acromegaly due to pituitary adenoma 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112007"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone secreting pituitary adenoma 2"^^xsd:string ; rdfs:subClassOf obo:DOID_6255 . obo:DOID_0112008 obo:IAO_0000115 "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in CDH23 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617540"^^xsd:string ; oboInOwl:hasExactSynonym "PITA5"^^xsd:string, "pituitary adenoma 5, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112008"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112009 obo:IAO_0000115 "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:102200"^^xsd:string ; oboInOwl:hasExactSynonym "PITA1"^^xsd:string, "pituitary adenoma 1, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112009"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112010 obo:IAO_0000115 "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617686"^^xsd:string ; oboInOwl:hasExactSynonym "PITA3"^^xsd:string, "pituitary adenoma 3, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112010"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 3"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112011 obo:IAO_0000115 "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:4075"^^xsd:string, "MEDDRA:10068842"^^xsd:string, "ORDO:659"^^xsd:string ; oboInOwl:hasExactSynonym "OLMS"^^xsd:string, "Olmsted syndrome"^^xsd:string, "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques"^^xsd:string, "palmoplantar and periorificial keratoderma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112011"^^xsd:string ; a owl:Class ; rdfs:label "mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_0112012 obo:IAO_0000115 "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300918"^^xsd:string ; oboInOwl:hasExactSynonym "OLMSX"^^xsd:string, "X-linked Olmsted syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112012"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112011, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112013 obo:IAO_0000115 "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614594"^^xsd:string ; oboInOwl:hasExactSynonym "OLMS1"^^xsd:string, "Olmsted syndrome 1"^^xsd:string, "autosomal dominant Olmsted syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112013"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112011, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112014 obo:IAO_0000115 "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in MYOCD on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618719"^^xsd:string ; oboInOwl:hasExactSynonym "MGBL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112014"^^xsd:string ; a owl:Class ; rdfs:label "congenital megabladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112015 obo:IAO_0000115 "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618982"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency 72 with autoinflammation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112015"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112016 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300428"^^xsd:string ; oboInOwl:hasExactSynonym "MRX2"^^xsd:string, "X-linked mental retardation 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112016"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112017 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300355"^^xsd:string ; oboInOwl:hasExactSynonym "MRX73"^^xsd:string, "X-linked mental retardation 73"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112017"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112018 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in FRMPD4 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300983"^^xsd:string ; oboInOwl:hasExactSynonym "MRX104"^^xsd:string, "X-linked mental retardation 104"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112018"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 104"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112019 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in RPS6KA3 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300844"^^xsd:string ; oboInOwl:hasExactSynonym "MRX19"^^xsd:string, "X-linked mental retardation 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112019"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112020 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in KLHL15 on chromosome Xp22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300982"^^xsd:string ; oboInOwl:hasExactSynonym "MRX103"^^xsd:string, "X-linked mental retardation 103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112020"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 103"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112021 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5614"^^xsd:string, "OMIM:300419"^^xsd:string ; oboInOwl:hasExactSynonym "ARX-related intellectual disability"^^xsd:string, "MRXARX"^^xsd:string, "X-linked mental retardation 29"^^xsd:string, "X-linked mental retardation 29 and others"^^xsd:string, "X-linked mental retardation 32"^^xsd:string, "X-linked mental retardation 33"^^xsd:string, "X-linked mental retardation 38"^^xsd:string, "X-linked mental retardation 43"^^xsd:string, "X-linked mental retardation 52"^^xsd:string, "X-linked mental retardation 54"^^xsd:string, "X-linked mental retardation 76"^^xsd:string, "X-linked mental retardation 87"^^xsd:string, "X-linked mental retardation with or without seizures ARX-related"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112021"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability ARX-related"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112022 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in IL1RAPL1 on chromosome Xp21.3-p21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300143"^^xsd:string ; oboInOwl:hasExactSynonym "MRX21"^^xsd:string, "MRX34"^^xsd:string, "X-linked mental retardation 21"^^xsd:string, "X-linked mental retardation 21/34"^^xsd:string, "X-linked mental retardation 34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112022"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112023 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300047"^^xsd:string ; oboInOwl:hasExactSynonym "MRX20"^^xsd:string, "X-linked mental retardation 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112023"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112024 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in TSPAN7 on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300210"^^xsd:string ; oboInOwl:hasExactSynonym "MRX58"^^xsd:string, "X-linked mental retardation 58"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112024"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112025 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in USP9X on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:13638"^^xsd:string, "OMIM:300968"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS99F"^^xsd:string, "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"^^xsd:string, "female-restricted syndromic X-linked mental retardation 99"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112025"^^xsd:string ; a owl:Class ; rdfs:label "female-restricted syndromic X-linked intellectual disability 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112026 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in USP9X on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300919"^^xsd:string ; oboInOwl:hasExactSynonym "MRX99"^^xsd:string, "X-linked mental retardation 99"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112026"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112027 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8557"^^xsd:string, "OMIM:300062"^^xsd:string ; oboInOwl:hasExactSynonym "MRX14"^^xsd:string, "X-linked mental retardation 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112027"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112028 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300498"^^xsd:string ; oboInOwl:hasExactSynonym "MRX45"^^xsd:string, "X-linked mental retardation 45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112028"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112029 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300115"^^xsd:string ; oboInOwl:hasExactSynonym "MRX50"^^xsd:string, "X-linked intellectual developmental disorder 50"^^xsd:string, "X-linked mental retardation 50"^^xsd:string, "XLID50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112029"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112030 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300505"^^xsd:string ; oboInOwl:hasExactSynonym "MRX84"^^xsd:string, "X-linked mental retardation 84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112030"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112031 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300848"^^xsd:string ; oboInOwl:hasExactSynonym "MRX89"^^xsd:string, "X-linked mental retardation 89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112031"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112032 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300851"^^xsd:string ; oboInOwl:hasExactSynonym "MRX92"^^xsd:string, "X-linked mental retardation 92"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112032"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 92"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112033 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300433"^^xsd:string ; oboInOwl:hasExactSynonym "MRX81"^^xsd:string, "X-linked mental retardation 81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112033"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 81"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112034 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in FTSJ1 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309549"^^xsd:string ; oboInOwl:hasExactSynonym "MRX44"^^xsd:string, "MRX9"^^xsd:string, "X-linked mental retardation 44"^^xsd:string, "X-linked mental retardation 9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112034"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112035 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300802"^^xsd:string ; oboInOwl:hasExactSynonym "MRX96"^^xsd:string, "X-linked mental retardation 96"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112035"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 96"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112036 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in USP27X on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300984"^^xsd:string ; oboInOwl:hasExactSynonym "MRX105"^^xsd:string, "X-linked mental retardation 105"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112036"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 105"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112037 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300705"^^xsd:string ; oboInOwl:hasExactSynonym "MRX17"^^xsd:string, "MRX31"^^xsd:string, "X-linked mental retardation 17"^^xsd:string, "X-linked mental retardation 31"^^xsd:string, "Xp11.22 microduplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112037"^^xsd:string ; a owl:Class ; rdfs:label "chromosome Xp11.22 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112038 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "GARD:13221"^^xsd:string, "OMIM:309530"^^xsd:string ; oboInOwl:hasExactSynonym "MRX1"^^xsd:string, "MRX18"^^xsd:string, "MRX78"^^xsd:string, "X-linked mental retardation 1"^^xsd:string, "X-linked mental retardation 1/78"^^xsd:string, "X-linked mental retardation 18"^^xsd:string, "X-linked mental retardation 78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112038"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112039 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300454"^^xsd:string ; oboInOwl:hasExactSynonym "MRX77"^^xsd:string, "X-linked mental retardation 77"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112039"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112040 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in KIF4A on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300923"^^xsd:string ; oboInOwl:hasExactSynonym "MRX100"^^xsd:string, "X-linked mental retardation 100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112040"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 100"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112041 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in DLG3 on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300850"^^xsd:string ; oboInOwl:hasExactSynonym "MRX90"^^xsd:string, "X-linked mental retardation 90"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112041"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 90"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112042 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300978"^^xsd:string ; oboInOwl:hasExactSynonym "MRX61"^^xsd:string, "TOKAS"^^xsd:string, "X-linked mental retardation 61"^^xsd:string, "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112042"^^xsd:string ; a owl:Class ; rdfs:label "Tonne-Kalscheuer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0112043 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300577"^^xsd:string ; oboInOwl:hasExactSynonym "MRX91"^^xsd:string, "X-linked mental retardation 91"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112043"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112044 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300912"^^xsd:string ; oboInOwl:hasExactSynonym "MRX98"^^xsd:string, "X-linked mental retardation 98"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112044"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 98"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112045 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in BRWD3 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300659"^^xsd:string ; oboInOwl:hasExactSynonym "MRX93"^^xsd:string, "X-linked mental retardation 93"^^xsd:string, "X-linked mental retardation with macrocephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112045"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112046 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in ZNF711 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300803"^^xsd:string ; oboInOwl:hasExactSynonym "MRX65"^^xsd:string, "MRX97"^^xsd:string, "MRXZ"^^xsd:string, "X-linked mental retardation 65"^^xsd:string, "X-linked mental retardation 97"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112046"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 97"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112047 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300324"^^xsd:string ; oboInOwl:hasExactSynonym "MRX53"^^xsd:string, "X-linked mental retardation 53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112047"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112048 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in MID2 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300928"^^xsd:string ; oboInOwl:hasExactSynonym "MRX101"^^xsd:string, "X-linked mental retardation 101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112048"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 101"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112049 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300046"^^xsd:string ; oboInOwl:hasExactSynonym "MRX23"^^xsd:string, "X-linked mental retardation 23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112049"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112050 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5613"^^xsd:string, "OMIM:300387"^^xsd:string ; oboInOwl:hasExactSynonym "ACSL4-related intellectual disability"^^xsd:string, "MRX63"^^xsd:string, "MRX68"^^xsd:string, "X-linked mental retardation 63"^^xsd:string, "X-linked mental retardation 68"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112050"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112051 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300558"^^xsd:string ; oboInOwl:hasExactSynonym "MRX30"^^xsd:string, "MRX47"^^xsd:string, "X-linked mental retardation 30"^^xsd:string, "X-linked mental retardation 30/47"^^xsd:string, "X-linked mental retardation 47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112051"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112052 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300518"^^xsd:string ; oboInOwl:hasExactSynonym "MRX82"^^xsd:string, "X-linked mental retardation 82"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112052"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 82"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112053 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300852"^^xsd:string ; oboInOwl:hasExactSynonym "MRX88"^^xsd:string, "X-linked mental retardation 88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112053"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112054 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301013"^^xsd:string ; oboInOwl:hasExactSynonym "MRX107"^^xsd:string, "X-linked mental retardation 107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112054"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 107"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112055 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300436"^^xsd:string ; oboInOwl:hasExactSynonym "MRX46"^^xsd:string, "X-linked mental retardation 46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112055"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112056 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300957"^^xsd:string, "ORDO:457240"^^xsd:string ; oboInOwl:hasExactSynonym "MRX12"^^xsd:string, "MRX35"^^xsd:string, "X-linked mental retardation 12"^^xsd:string, "X-linked mental retardation 35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112056"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-short stature-overweight syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112057 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300372"^^xsd:string ; oboInOwl:hasExactSynonym "MRX42"^^xsd:string, "X-linked mental retardation 42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112057"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112058 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in GDI1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300849"^^xsd:string ; oboInOwl:hasExactSynonym "MRX41"^^xsd:string, "MRX48"^^xsd:string, "X-linked mental retardation 41"^^xsd:string, "X-linked mental retardation 48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112058"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112059 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in RAB39B on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300271"^^xsd:string ; oboInOwl:hasExactSynonym "MRX72"^^xsd:string, "X-linked mental retardation 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112059"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112060 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300114"^^xsd:string ; oboInOwl:hasExactSynonym "MRX15"^^xsd:string, "MRX49"^^xsd:string, "MRXSRC"^^xsd:string, "X-linked mental retardation 15"^^xsd:string, "X-linked mental retardation 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112060"^^xsd:string ; a owl:Class ; rdfs:label "Raynaud-Claes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112061 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618986"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112061"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112062 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618987"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112062"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112063 obo:IAO_0000115 "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in TLR7 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301051"^^xsd:string ; oboInOwl:hasExactSynonym "IMD74"^^xsd:string, "TLR7 deficiency"^^xsd:string, "X-linked immunodeficiency 74,COVID-19-related"^^xsd:string, "respiratory insufficiency due to SARS-CoV-2 viral infection"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112063"^^xsd:string ; a owl:Class ; rdfs:label "X-Linked immunodeficiency 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112064 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564275"^^xsd:string, "OMIM:608203"^^xsd:string, "ORDO:183707"^^xsd:string, "SNOMEDCT_US_2021_03_01:723443003"^^xsd:string, "UMLS_CUI:C1842398"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73A"^^xsd:string, "neutrophil immunodeficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112064"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112065 obo:IAO_0000115 "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS252010"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112065"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060536 . obo:DOID_0112066 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in NDUFS2 on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618228"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112066"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112067 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618246"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112067"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112068 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618226"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112068"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112069 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA10 on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618243"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN22"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112069"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112070 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618240"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112070"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112071 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618251"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112071"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112072 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567006"^^xsd:string, "OMIM:611126"^^xsd:string, "ORDO:99901"^^xsd:string, "SNOMEDCT_US_2021_03_01:725046003"^^xsd:string, "UMLS_CUI:C1970173"^^xsd:string ; oboInOwl:hasExactSynonym "ACAD9 deficiency"^^xsd:string, "Acyl-CoA dehydrogenase 9 deficiency"^^xsd:string, "MC1DN20"^^xsd:string, "mitochondrial complex 1 deficiency due to ACAD9 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112072"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0112073 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS6 on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618232"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112073"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112074 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:252010"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112074"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112075 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF2 on chromosome 5q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618233"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112075"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112076 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618235"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112076"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112077 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF4 on chromosome 6q16.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618237"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112077"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112078 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618239"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112078"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112079 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB9 on chromosome 8q24.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618245"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112079"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112080 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618252"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112080"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112081 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS3 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618230"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112081"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112082 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618225"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112082"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112083 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS8 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618222"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112083"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112084 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618250"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112084"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112085 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in FOXRED1 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618241"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112085"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112086 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA9 on chromosome 12p13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618247"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112086"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112087 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618244"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112087"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112088 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618242"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112088"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112089 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF1 on chromosome 15q15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618234"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112089"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112090 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MTFMT on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618248"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112090"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112091 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF8 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618776"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112091"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112092 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618229"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112092"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112093 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS7 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618224"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112093"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112094 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA11 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618236"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112094"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112095 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618249"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112095"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112096 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618238"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN16"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112096"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112097 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618253"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112097"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112098 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301021"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112098"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112099 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301020"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112099"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112100 obo:IAO_0000115 "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome."^^xsd:string ; oboInOwl:hasExactSynonym "MC1DM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112100"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial type mitochondrial complex I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060536, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000949 ] . obo:DOID_0112101 obo:IAO_0000115 "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500014"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DM1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112101"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial type mitochondrial complex I deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0112100 . obo:DOID_0112102 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614753"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112102"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112103 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in heterozygous mutation in NSD1 or deletion in the chromosome region 5q35 that includes NSD1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:117550"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112103"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112104 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in homozygous mutation in APC2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617169"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112104"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112105 obo:IAO_0000115 "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300911"^^xsd:string, "ORDO:363654"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked Parkinsonism with spasticity"^^xsd:string, "XPDS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112105"^^xsd:string ; a owl:Class ; rdfs:label "X-linked parkinsonism-spasticity syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112106 obo:IAO_0000115 "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300863"^^xsd:string, "ORDO:163966"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"^^xsd:string, "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112106"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112107 obo:IAO_0000115 "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10731"^^xsd:string, "MESH:C564038"^^xsd:string, "OMIM:300842"^^xsd:string, "ORDO:59306"^^xsd:string, "SNOMEDCT_US_2021_03_01:234411007"^^xsd:string, "UMLS_CUI:C0398568"^^xsd:string ; oboInOwl:hasExactSynonym "MLS"^^xsd:string, "McLeod neuroacanthocytosis syndrome"^^xsd:string, "McLeod syndrome with or without chronic granulomatous disease"^^xsd:string, "McLeod type neuroacanthocytosis"^^xsd:string, "X-linked McLeod syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112107"^^xsd:string ; a owl:Class ; rdfs:label "McLeod syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112108 obo:IAO_0000115 "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in SVIL on chromosome 10p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619040"^^xsd:string ; oboInOwl:hasExactSynonym "MFM10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112108"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112109 obo:IAO_0000115 "A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in CEP112 on chromosome 17q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619044"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112109"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112110 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619024"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112110"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112111 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619025"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112111"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112112 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619012"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112112"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112113 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618951"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112113"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112114 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618958"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112114"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112115 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618952"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112115"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112116 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618851"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112116"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112117 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618835"^^xsd:string, "ORDO:570491"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD40"^^xsd:string, "QRSL1-related COXPD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112117"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112118 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATC on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618839"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112118"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112119 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATB on chromosome 4q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618838"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112119"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112120 obo:IAO_0000115 "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300582"^^xsd:string, "ORDO:314795"^^xsd:string ; oboInOwl:hasExactSynonym "idiopathic familial short stature"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112120"^^xsd:string ; a owl:Class ; rdfs:label "SHOX-related short stature"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0112121 obo:IAO_0000115 "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in AVPR2 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564491"^^xsd:string, "OMIM:300539"^^xsd:string, "ORDO:93606"^^xsd:string, "SNOMEDCT_US_2021_03_01:723440000"^^xsd:string, "UMLS_CUI:C1845202"^^xsd:string ; oboInOwl:hasExactSynonym "NSIAD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112121"^^xsd:string ; a owl:Class ; rdfs:label "nephrogenic syndrome of inappropriate antidiuresis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112122 obo:IAO_0000115 "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564505"^^xsd:string, "OMIM:300491"^^xsd:string, "ORDO:85294"^^xsd:string, "UMLS_CUI:C1845343"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked epilepsy-learning disabilities-behavior disorders syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112122"^^xsd:string ; a owl:Class ; rdfs:label "X-linked epilepsy with variable learning disabilities and behavior disorders"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112123 obo:IAO_0000115 "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:12472"^^xsd:string, "OMIM:300475"^^xsd:string, "ORDO:369939"^^xsd:string ; oboInOwl:hasExactSynonym "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"^^xsd:string, "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112123"^^xsd:string ; a owl:Class ; rdfs:label "deafness, dystonia, and cerebral hypomyelination"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112124 obo:IAO_0000115 "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300455"^^xsd:string, "ORDO:247522"^^xsd:string ; oboInOwl:hasExactSynonym "primary ciliary dyskinesia-retinitis pigmentosa syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112124"^^xsd:string ; a owl:Class ; rdfs:label "X-linked retinitis pigmentosa and sinorespiratory infections"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112125 obo:IAO_0000115 "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in ATRX on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563023"^^xsd:string, "OMIM:300448"^^xsd:string, "ORDO:231401"^^xsd:string, "SNOMEDCT_US_2021_03_01:307343001"^^xsd:string, "UMLS_CUI:C0585216"^^xsd:string ; oboInOwl:hasExactSynonym "ATMDS"^^xsd:string, "acquired HbH disease"^^xsd:string, "acquired hemoglobin H disease"^^xsd:string, "alpha-thalassemia-myelodysplastic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112125"^^xsd:string ; a owl:Class ; rdfs:label "alpha-thalassemia myelodysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112126 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in SHROOM4 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300434"^^xsd:string, "ORDO:85288"^^xsd:string ; oboInOwl:hasExactSynonym "SDSX"^^xsd:string, "Stocco dos Santos X-linked mental retardation syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112126"^^xsd:string ; a owl:Class ; rdfs:label "Stocco Dos Santos type X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112127 obo:IAO_0000115 "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300323"^^xsd:string, "ORDO:79233"^^xsd:string ; oboInOwl:hasExactSynonym "HPRT deficiency, grade I"^^xsd:string, "HPRT partial deficiency"^^xsd:string, "HPRT-related gout"^^xsd:string, "HPRT-related hyperuricemia"^^xsd:string, "HPRT1 partial deficiency"^^xsd:string, "Kelley-Seegmiller syndrome"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase partial deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112127"^^xsd:string ; a owl:Class ; rdfs:label "HRPT-related hyperuricemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1920, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112128 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3981"^^xsd:string, "MESH:C564539"^^xsd:string, "OMIM:300299"^^xsd:string, "ORDO:86788"^^xsd:string, "SNOMEDCT_US_2021_03_01:718882006"^^xsd:string, "UMLS_CUI:C1845987"^^xsd:string ; oboInOwl:hasExactSynonym "SCNX"^^xsd:string, "XLN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112128"^^xsd:string ; a owl:Class ; rdfs:label "X-linked severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112129 obo:IAO_0000115 "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617014"^^xsd:string, "ORDO:420702"^^xsd:string ; oboInOwl:hasExactSynonym "SCN7"^^xsd:string, "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112129"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112130 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9558"^^xsd:string, "ORDO:486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112130"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112131 obo:IAO_0000115 "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613107"^^xsd:string ; oboInOwl:hasExactSynonym "SCN2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112131"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0112130, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112132 obo:IAO_0000115 "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615285"^^xsd:string, "ORDO:369852"^^xsd:string ; oboInOwl:hasExactSynonym "SCN5"^^xsd:string, "VPS45 deficiency"^^xsd:string, "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"^^xsd:string, "congenital neutropenia-myelofibrosis-nephromegaly syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112132"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112133 obo:IAO_0000115 "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:302"^^xsd:string, "OMIM:610738"^^xsd:string, "ORDO:99749"^^xsd:string ; oboInOwl:hasExactSynonym "Kostmann disease"^^xsd:string, "Kostmann syndrome"^^xsd:string, "SCN3"^^xsd:string, "infantile agranulocytosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112133"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112134 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616022"^^xsd:string, "ORDO:423384"^^xsd:string ; oboInOwl:hasExactSynonym "SCN6"^^xsd:string, "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112134"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112135 obo:IAO_0000115 "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in SRP54 on chromosome 14q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618752"^^xsd:string ; oboInOwl:hasExactSynonym "SCN8"^^xsd:string, "SDSL"^^xsd:string, "Shwachman-Diamond syndrome-like"^^xsd:string, "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112135"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0112130, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112136 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612541"^^xsd:string, "ORDO:331176"^^xsd:string ; oboInOwl:hasExactSynonym "Dursun syndrome"^^xsd:string, "SCN4"^^xsd:string, "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"^^xsd:string, "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112136"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112137 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619057"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112137"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112138 obo:IAO_0000115 "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619028"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112138"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112139 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB10 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619003"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112139"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060536, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112140 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618173"^^xsd:string ; oboInOwl:hasExactSynonym "RP83"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112140"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112141 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618220"^^xsd:string ; oboInOwl:hasExactSynonym "RP84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112141"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112142 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618345"^^xsd:string ; oboInOwl:hasExactSynonym "RP85"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112142"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 85"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112143 obo:IAO_0000115 "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in KIAA1549 on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618613"^^xsd:string ; oboInOwl:hasExactSynonym "RP86"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112143"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112144 obo:IAO_0000115 "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in RPE65 on chromosome 1p31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618697"^^xsd:string ; oboInOwl:hasExactSynonym "RP87"^^xsd:string, "retinitis pigmentosa 87 with choroidal involvement"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112144"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 87"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112145 obo:IAO_0000115 "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in RP1L1 on chromosome 8p23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618826"^^xsd:string ; oboInOwl:hasExactSynonym "RP88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112145"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112146 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in KIF3B on chromosome 20q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618955"^^xsd:string ; oboInOwl:hasExactSynonym "RP89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112146"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112147 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in IDH3A on chromosome 15q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619007"^^xsd:string ; oboInOwl:hasExactSynonym "RP90"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112147"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 90"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112148 obo:IAO_0000115 "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in FHL1 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300280"^^xsd:string ; oboInOwl:hasExactSynonym "FCMSU"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112148"^^xsd:string ; a owl:Class ; rdfs:label "Uruguay faciocardiomusculoskeletal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112149 obo:IAO_0000115 "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564554"^^xsd:string, "OMIM:300244"^^xsd:string, "ORDO:88630"^^xsd:string, "UMLS_CUI:C1846129"^^xsd:string ; oboInOwl:hasExactSynonym "ODPD"^^xsd:string, "ODPF syndrome"^^xsd:string, "TOD"^^xsd:string, "TODPD"^^xsd:string, "digital osseous dysplasia with facial pigmentary defects and multiple frenula"^^xsd:string, "terminal osseous dysplasia-pigmentary defects syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112149"^^xsd:string ; a owl:Class ; rdfs:label "terminal osseous dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112150 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:4979"^^xsd:string, "MESH:C564714"^^xsd:string, "OMIM:300106"^^xsd:string, "ORDO:93349"^^xsd:string, "SNOMEDCT_US_2021_03_01:770603000"^^xsd:string, "UMLS_CUI:C1848097"^^xsd:string ; oboInOwl:hasExactSynonym "SEMD X-linked"^^xsd:string, "SEMDX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112150"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spondyloepimetaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112151 obo:IAO_0000115 "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4528"^^xsd:string, "OMIM:300004"^^xsd:string, "ORDO:2508"^^xsd:string ; oboInOwl:hasExactSynonym "ACC with abnormal genitalia"^^xsd:string, "Proud syndrome"^^xsd:string, "Proud-Levine-Carpenter syndrome"^^xsd:string, "corpus callosum agenesis with abnormal genitalia"^^xsd:string, "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112151"^^xsd:string ; a owl:Class ; rdfs:label "corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112152 obo:IAO_0000115 "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:310"^^xsd:string, "MESH:C536729"^^xsd:string, "OMIM:280000"^^xsd:string, "ORDO:3474"^^xsd:string, "SNOMEDCT_US_2021_03_01:720639008"^^xsd:string, "UMLS_CUI:C1848392"^^xsd:string ; oboInOwl:hasExactSynonym "PIGL-CDG"^^xsd:string, "Zunich neuroectodermal syndrome"^^xsd:string, "Zunich-Kaye syndrome"^^xsd:string, "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome"^^xsd:string, "congenital disorder of glycosylation due to PIGL deficiency"^^xsd:string, "neuroectodermal dysplasia, CHIME type"^^xsd:string, "neuroectodermal syndrome, Zunich type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112152"^^xsd:string ; a owl:Class ; rdfs:label "CHIME syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112153 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619071"^^xsd:string ; oboInOwl:hasExactSynonym "HLD20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112153"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112154 obo:IAO_0000115 "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in CARD8 on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619079"^^xsd:string ; oboInOwl:hasExactSynonym "IBD30"^^xsd:string, "inflammatory bowel disease (Crohn disease) 30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112154"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112155 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in INAVA on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618077"^^xsd:string ; oboInOwl:hasExactSynonym "IBD29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112155"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112156 obo:IAO_0000115 "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300835"^^xsd:string, "ORDO:363727"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked anemia with/without neutropenia and/or platelet abnormalities"^^xsd:string, "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112156"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dyserythropoietic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2355, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112157 obo:IAO_0000115 "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300834"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112157"^^xsd:string ; a owl:Class ; rdfs:label "X-linked atrophic macular degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112158 obo:IAO_0000115 "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."^^xsd:string ; oboInOwl:hasDbXref "GARD:8276"^^xsd:string, "MESH:C535992"^^xsd:string, "NCI:C84666"^^xsd:string, "OMIM:278800"^^xsd:string, "ORDO:1569"^^xsd:string, "SNOMEDCT_US_2021_03_01:254201008"^^xsd:string, "UMLS_CUI:C0265201"^^xsd:string ; oboInOwl:hasExactSynonym "xeroderma pigmentosum with neurologic manifestation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112158"^^xsd:string ; a owl:Class ; rdfs:label "De Sanctis-Cacchione syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0112159 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619081"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112159"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 78"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112160 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in SCD5 on chromosome 4q21.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619086"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112160"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112161 obo:IAO_0000115 "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619087"^^xsd:string ; oboInOwl:hasExactSynonym "NS13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112161"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112162 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in CLDN9 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619093"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112162"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 116"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0112163 obo:IAO_0000115 "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619094"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112163"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112164 obo:IAO_0000115 "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in DNAH8 on chromosome 6p21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619095"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112164"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112165 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in PDE1C on chromosome 7p14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618140"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA74"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112165"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112166 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in TRRAP on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618778"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA75"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112166"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112167 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in PLS1 on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618787"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA76"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112167"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112168 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in ABCC1 on chromosome 16p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618915"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA77"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112168"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112169 obo:IAO_0000115 "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in MRAS on chromosome 3q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618499"^^xsd:string ; oboInOwl:hasExactSynonym "NS11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112169"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112170 obo:IAO_0000115 "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in RRAS2 on chromosome 11p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618624"^^xsd:string ; oboInOwl:hasExactSynonym "NS12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112170"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112171 obo:IAO_0000115 "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:273"^^xsd:string, "MESH:C536750"^^xsd:string, "OMIM:278250"^^xsd:string, "ORDO:2834"^^xsd:string, "SNOMEDCT_US_2021_03_01:238875009"^^xsd:string, "UMLS_CUI:C0406587"^^xsd:string ; oboInOwl:hasExactSynonym "WSS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112171"^^xsd:string ; a owl:Class ; rdfs:label "wrinkly skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112172 obo:IAO_0000115 "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98434"^^xsd:string, "SNOMEDCT_US_2021_03_01:724356003"^^xsd:string, "UMLS_CUI:C4510617"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD"^^xsd:string, "hereditary combined deficiency of factors II, VII, IX and X"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112172"^^xsd:string ; a owl:Class ; rdfs:label "hereditary combined deficiency of vitamin K-dependent clotting factors"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0112173 obo:IAO_0000115 "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in GGCX on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564741"^^xsd:string, "OMIM:277450"^^xsd:string, "UMLS_CUI:C1848534"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112173"^^xsd:string ; a owl:Class ; rdfs:label "combined deficiency of vitamin K-dependent clotting factors 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112172, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112174 obo:IAO_0000115 "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564393"^^xsd:string, "OMIM:607473"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112174"^^xsd:string ; a owl:Class ; rdfs:label "combined deficiency of vitamin K-dependent clotting factors 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112172, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112175 obo:IAO_0000115 "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619102"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112175"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112176 obo:IAO_0000115 "An azoospermia characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619108"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112176"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112177 obo:IAO_0000115 "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype."^^xsd:string ; oboInOwl:hasDbXref "ORDO:3109"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome"^^xsd:string, "Rokitansky syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112177"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112178 obo:IAO_0000115 "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277000"^^xsd:string, "ORDO:247775"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome type 1"^^xsd:string, "Rokitansky sequence"^^xsd:string, "congenital absence of uterus and vagina"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112178"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0112177 . obo:DOID_0112179 obo:IAO_0000115 "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601076"^^xsd:string, "ORDO:2578"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome type 2"^^xsd:string, "MURCS"^^xsd:string, "MURCS association"^^xsd:string, "atypical MRKH syndrome"^^xsd:string, "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia"^^xsd:string, "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112179"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0112177 . obo:DOID_0112180 obo:IAO_0000115 "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8539"^^xsd:string, "MESH:C536479"^^xsd:string, "OMIM:276880"^^xsd:string, "ORDO:210128"^^xsd:string, "SNOMEDCT_US_2021_03_01:60952007"^^xsd:string, "UMLS_CUI:C0268514"^^xsd:string ; oboInOwl:hasExactSynonym "UROCD"^^xsd:string, "encephalopathy due to urocanase deficiency"^^xsd:string, "high urine urocanic acid levels"^^xsd:string, "urocanate hydratase deficiency"^^xsd:string, "urocanic aciduria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112180"^^xsd:string ; a owl:Class ; rdfs:label "urocanase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112181 obo:IAO_0000115 "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in WNT7A on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9212"^^xsd:string, "OMIM:276820"^^xsd:string, "ORDO:2879"^^xsd:string ; oboInOwl:hasExactSynonym "AARRS"^^xsd:string, "Al Awadi-Raas-Rothschild syndrome"^^xsd:string, "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome"^^xsd:string, "LPHAS"^^xsd:string, "Schinzel phocomelia syndrome"^^xsd:string, "absence of ulna and fibula with severe limb deficiency"^^xsd:string, "aplasia/hypoplasia of limbs and pelvis"^^xsd:string, "congenital absence of ulna and fibula"^^xsd:string, "limb/pelvis-hypoplasia/aplasia syndrome"^^xsd:string, "severe limb deficit"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112181"^^xsd:string ; a owl:Class ; rdfs:label "Schinzel type phocomelia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112182 obo:IAO_0000115 "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively."^^xsd:string ; oboInOwl:hasDbXref "OMIM:276300"^^xsd:string, "ORDO:252202"^^xsd:string ; oboInOwl:hasExactSynonym "BTP1 syndrome"^^xsd:string, "BTPS1"^^xsd:string, "CMMR-D syndrome"^^xsd:string, "CMMRDS"^^xsd:string, "MMR deficiency"^^xsd:string, "Turcot syndrome"^^xsd:string, "brain tumor-polyposis syndrome 1"^^xsd:string, "childhood cancer syndrome"^^xsd:string, "constitutional mismatch repair deficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112182"^^xsd:string ; a owl:Class ; rdfs:label "mismatch repair cancer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112183 obo:IAO_0000115 "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis."^^xsd:string ; oboInOwl:hasDbXref "ORDO:95716"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112183"^^xsd:string ; a owl:Class ; rdfs:label "familial thyroid dyshormonogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328 . obo:DOID_0112184 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274900"^^xsd:string ; oboInOwl:hasExactSynonym "TDH5"^^xsd:string, "genetic defect in thyroid hormonogenesis 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112184"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112185 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274400"^^xsd:string ; oboInOwl:hasExactSynonym "TDH1"^^xsd:string, "genetic defect in thyroid hormonogenesis 1"^^xsd:string, "iodide accumulation, transport, or trapping defect"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112185"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112186 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274500"^^xsd:string ; oboInOwl:hasExactSynonym "TDH2A"^^xsd:string, "genetic defect in thyroid hormonogenesis 2A"^^xsd:string, "iodide peroxidase deficiency"^^xsd:string, "thyroid peroxidase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112186"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112187 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274700"^^xsd:string ; oboInOwl:hasExactSynonym "TDH3"^^xsd:string, "genetic defect in thyroid hormonogenesis 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112187"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112188 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274800"^^xsd:string ; oboInOwl:hasExactSynonym "TDH4"^^xsd:string, "deiodinase deficiency"^^xsd:string, "genetic defect in thyroid hormonogenesis 4"^^xsd:string, "iodotyrosine dehalogenase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112188"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112189 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607200"^^xsd:string ; oboInOwl:hasExactSynonym "TDH6"^^xsd:string, "genetic defect in thyroid hormonogenesis 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112189"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112190 obo:IAO_0000115 "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619110"^^xsd:string ; oboInOwl:hasExactSynonym "DA1C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112190"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112191 obo:IAO_0000115 "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:386"^^xsd:string, "ORDO:3301"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS"^^xsd:string, "tetra-amelia syndrome"^^xsd:string, "tetraamelia-multiple malformations syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112191"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112192 obo:IAO_0000115 "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:5148"^^xsd:string, "OMIM:273395"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS1"^^xsd:string, "tetra-amelia syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112192"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112193 obo:IAO_0000115 "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5147"^^xsd:string, "OMIM:618021"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS2"^^xsd:string, "tetra-amelia with pulmonary hypoplasia"^^xsd:string, "tetraamelia with pulmonary hypoplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112193"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112194 obo:IAO_0000115 "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in CKAP2L on chromosome 2q14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:62"^^xsd:string, "OMIM:272440"^^xsd:string, "ORDO:3255"^^xsd:string ; oboInOwl:hasExactSynonym "Scott craniodigital syndrome with mental retardation"^^xsd:string, "type 1 syndactyly-microcephaly-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112194"^^xsd:string ; a owl:Class ; rdfs:label "Filippi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112195 obo:IAO_0000115 "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271700"^^xsd:string, "ORDO:1856"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloperipheral dysplasia-short ulna syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112195"^^xsd:string ; a owl:Class ; rdfs:label "spondyloperipheral dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112196 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10616"^^xsd:string, "MESH:C564794"^^xsd:string, "OMIM:271665"^^xsd:string, "ORDO:93358"^^xsd:string, "UMLS_CUI:C1849011"^^xsd:string ; oboInOwl:hasExactSynonym "SMED short limb-abnormal calcification type"^^xsd:string, "SMED short limb-hand type"^^xsd:string, "SMED type 2"^^xsd:string, "SMED, type II"^^xsd:string, "SMED-SL"^^xsd:string, "SMED-SL/AC"^^xsd:string, "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"^^xsd:string, "spondylometaepiphyseal dysplasia short limb-hand type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112196"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaepiphyseal dysplasia, short limb-hand type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112197 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility."^^xsd:string ; oboInOwl:hasDbXref "GARD:4982"^^xsd:string, "OMIM:PS271640"^^xsd:string, "ORDO:93359"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112197"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity"^^xsd:string ; rdfs:subClassOf obo:DOID_0080027 . obo:DOID_0112198 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271640"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL1"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112198"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112199 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603546"^^xsd:string, "ORDO:93360"^^xsd:string ; oboInOwl:hasExactSynonym "SEMD-MD"^^xsd:string, "SEMDJL2"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity type 2"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"^^xsd:string, "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112199"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112200 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618395"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112200"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112201 obo:IAO_0000115 "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619131"^^xsd:string ; oboInOwl:hasExactSynonym "OI21"^^xsd:string, "osteogenesis imperfecta type XXI"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112201"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112202 obo:IAO_0000115 "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS308350"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112202"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0112203 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618141"^^xsd:string ; oboInOwl:hasExactSynonym "DEE67"^^xsd:string, "early infantile epileptic encephalopathy 67"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112203"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112204 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618201"^^xsd:string ; oboInOwl:hasExactSynonym "DEE68"^^xsd:string, "early infantile epileptic encephalopathy 68"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112204"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112205 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in CACNA1E on chromosome 1q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618285"^^xsd:string ; oboInOwl:hasExactSynonym "DEE69"^^xsd:string, "early infantile epileptic encephalopathy 69"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112205"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112206 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in PHACTR1 on chromosome 6p24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618298"^^xsd:string ; oboInOwl:hasExactSynonym "DEE70"^^xsd:string, "early infantile epileptic encephalopathy 70"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112206"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112207 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618328"^^xsd:string ; oboInOwl:hasExactSynonym "DEE71"^^xsd:string, "early infantile epileptic encephalopathy 71"^^xsd:string, "glutaminase deficiency with neonatal epileptic encephalopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112207"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112208 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in NEUROD2 on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618374"^^xsd:string ; oboInOwl:hasExactSynonym "DEE72"^^xsd:string, "early infantile epileptic encephalopathy 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112208"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112209 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618379"^^xsd:string ; oboInOwl:hasExactSynonym "DEE73"^^xsd:string, "early infantile epileptic encephalopathy 73"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112209"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112210 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618396"^^xsd:string ; oboInOwl:hasExactSynonym "DEE74"^^xsd:string, "early infantile epileptic encephalopathy 74"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112210"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112211 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618437"^^xsd:string ; oboInOwl:hasExactSynonym "DEE75"^^xsd:string, "early infantile epileptic encephalopathy 75"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112211"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112212 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618468"^^xsd:string ; oboInOwl:hasExactSynonym "DECAM"^^xsd:string, "DEE76"^^xsd:string, "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination"^^xsd:string, "early infantile epileptic encephalopathy 76"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112212"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112213 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618548"^^xsd:string ; oboInOwl:hasExactSynonym "DEE77"^^xsd:string, "GPIBD19"^^xsd:string, "MCAHS4"^^xsd:string, "early infantile epileptic encephalopathy 77"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 19"^^xsd:string, "multiple congenital anomalies-hypotonia-seizures syndrome-4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112213"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112214 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618557"^^xsd:string ; oboInOwl:hasExactSynonym "DEE78"^^xsd:string, "early infantile epileptic encephalopathy 78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112214"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 78"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112215 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in GABRA5 on chromosome 15q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618559"^^xsd:string ; oboInOwl:hasExactSynonym "DEE79"^^xsd:string, "early infantile epileptic encephalopathy 79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112215"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112216 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618580"^^xsd:string ; oboInOwl:hasExactSynonym "DEE80"^^xsd:string, "GPIBD20"^^xsd:string, "early infantile epileptic encephalopathy 80"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112216"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 80"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112217 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618663"^^xsd:string ; oboInOwl:hasExactSynonym "DEE81"^^xsd:string, "early infantile epileptic encephalopathy 81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112217"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 81"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112218 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618744"^^xsd:string ; oboInOwl:hasExactSynonym "DEE83"^^xsd:string, "early infantile epileptic encephalopathy 83"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112218"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112219 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618792"^^xsd:string ; oboInOwl:hasExactSynonym "DEE84"^^xsd:string, "Jamuar syndrome"^^xsd:string, "early infantile epileptic encephalopathy 84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112219"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112220 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618910"^^xsd:string ; oboInOwl:hasExactSynonym "DEE86"^^xsd:string, "early infantile epileptic encephalopathy 86"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112220"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112221 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618916"^^xsd:string ; oboInOwl:hasExactSynonym "DEE87"^^xsd:string, "early infantile epileptic encephalopathy 87"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112221"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 87"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112222 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618959"^^xsd:string ; oboInOwl:hasExactSynonym "DEE88"^^xsd:string, "early infantile epileptic encephalopathy 88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112222"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112223 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619124"^^xsd:string ; oboInOwl:hasExactSynonym "DEE89"^^xsd:string, "early infantile epileptic encephalopathy 89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112223"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112224 obo:IAO_0000115 "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:11009"^^xsd:string, "OMIM:614078"^^xsd:string, "ORDO:280586"^^xsd:string ; oboInOwl:hasExactSynonym "gPAPP deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112224"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia with joint dislocations gPAPP type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112225 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233910"^^xsd:string, "ORDO:2102"^^xsd:string ; oboInOwl:hasExactSynonym "GTP cyclohydrolase 1 deficiency"^^xsd:string, "HPABH4B"^^xsd:string, "tetrahydrobiopterin-deficient hyperphenylalaninemia B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112225"^^xsd:string ; a owl:Class ; rdfs:label "BH4-deficient hyperphenylalaninemia B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112226 obo:IAO_0000115 "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in NR2F1 on chromosome 5q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615722"^^xsd:string, "ORDO:401777"^^xsd:string ; oboInOwl:hasExactSynonym "BBSOAS"^^xsd:string, "optic atrophy-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112226"^^xsd:string ; a owl:Class ; rdfs:label "Bosch-Boonstra-Schaaf optic atrophy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112227 obo:IAO_0000115 "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112227"^^xsd:string ; a owl:Class ; rdfs:label "tubulinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_2490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112228 obo:IAO_0000115 "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618325"^^xsd:string, "ORDO:572013"^^xsd:string ; oboInOwl:hasExactSynonym "LIS9"^^xsd:string, "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112228"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 9 with complex brainstem malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112229 obo:IAO_0000115 "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in CEP85L on chromosome 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618873"^^xsd:string ; oboInOwl:hasExactSynonym "LIS10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112229"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112230 obo:IAO_0000115 "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615191"^^xsd:string ; oboInOwl:hasExactSynonym "LIS5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112230"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112231 obo:IAO_0000115 "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616342"^^xsd:string ; oboInOwl:hasExactSynonym "LIS7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112231"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 7 with cerebellar hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112232 obo:IAO_0000115 "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611603"^^xsd:string, "ORDO:171680"^^xsd:string ; oboInOwl:hasExactSynonym "LIS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112232"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112233 obo:IAO_0000115 "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617255"^^xsd:string ; oboInOwl:hasExactSynonym "LIS8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112233"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112234 obo:IAO_0000115 "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly."^^xsd:string ; oboInOwl:hasDbXref "ORDO:1083"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112234"^^xsd:string ; a owl:Class ; rdfs:label "microlissencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453 . obo:DOID_0112235 obo:IAO_0000115 "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614019"^^xsd:string ; oboInOwl:hasExactSynonym "LIS4"^^xsd:string, "lissencephaly 4 with microcephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112235"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112234, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112236 obo:IAO_0000115 "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616212"^^xsd:string ; oboInOwl:hasExactSynonym "LIS6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112236"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112234, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112237 obo:IAO_0000115 "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607432"^^xsd:string, "ORDO:95232"^^xsd:string ; oboInOwl:hasExactSynonym "LIS1"^^xsd:string, "PAFAH1B1-related lissencephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112237"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112238 obo:IAO_0000115 "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300215"^^xsd:string, "ORDO:452"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked lissencephaly with abnormal genitalia"^^xsd:string, "X-linked lissencephaly with ambiguous genitalia"^^xsd:string, "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome"^^xsd:string, "XLAG"^^xsd:string, "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome"^^xsd:string, "XLIS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112238"^^xsd:string ; a owl:Class ; rdfs:label "X-linked lissencephaly 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112239 obo:IAO_0000115 "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300067"^^xsd:string ; oboInOwl:hasExactSynonym "XLIS1"^^xsd:string, "lissencephaly type 1 due to doublecortin gene mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112239"^^xsd:string ; a owl:Class ; rdfs:label "X-linked lissencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112240 obo:IAO_0000115 "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617879"^^xsd:string ; oboInOwl:hasExactSynonym "LCAEOD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112240"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis with early-onset deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112241 obo:IAO_0000115 "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2505"^^xsd:string ; oboInOwl:hasExactSynonym "CCSF"^^xsd:string, "Kunze-Riehm syndrome"^^xsd:string, "circumferential skin creases, Kunze type"^^xsd:string, "congenital circumferential skin folds"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112241"^^xsd:string ; a owl:Class ; rdfs:label "multiple benign circumferential skin creases on limbs"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0112242 obo:IAO_0000115 "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in TUBB on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156610"^^xsd:string ; oboInOwl:hasExactSynonym "CSCSC1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112242"^^xsd:string ; a owl:Class ; rdfs:label "congenital symmetric circumferential skin creases 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112243 obo:IAO_0000115 "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616734"^^xsd:string ; oboInOwl:hasExactSynonym "CSCSC2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112243"^^xsd:string ; a owl:Class ; rdfs:label "congenital symmetric circumferential skin creases 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112244 obo:IAO_0000115 "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612079"^^xsd:string, "ORDO:157954"^^xsd:string ; oboInOwl:hasExactSynonym "ANE syndrome"^^xsd:string, "ANES"^^xsd:string, "alopecia-progressive neurological defect-endocrinopathy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112244"^^xsd:string ; a owl:Class ; rdfs:label "alopecia, neurologic defects, and endocrinopathy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112245 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in CD2AP on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607832"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112245"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112246 obo:IAO_0000115 "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in SUGCT on chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12469"^^xsd:string, "OMIM:231690"^^xsd:string, "ORDO:35706"^^xsd:string ; oboInOwl:hasExactSynonym "GA III"^^xsd:string, "GA3"^^xsd:string, "glutaric aciduria 3"^^xsd:string, "glutaric aciduria III"^^xsd:string, "glutaric aciduria type 3"^^xsd:string, "glutaryl-CoA oxidase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112246"^^xsd:string ; a owl:Class ; rdfs:label "glutaric acidemia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112247 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in CDK13 on chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617360"^^xsd:string ; oboInOwl:hasExactSynonym "CDK13-Related CHDFIDD"^^xsd:string, "CDK13-Related Disorder"^^xsd:string, "CHDFIDD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112247"^^xsd:string ; a owl:Class ; rdfs:label "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112248 obo:IAO_0000115 "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5659"^^xsd:string, "OMIM:264300"^^xsd:string, "ORDO:752"^^xsd:string ; oboInOwl:hasExactSynonym "17-KSR deficiency"^^xsd:string, "17-beta-hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string, "17-ketoreductase deficiency"^^xsd:string, "17-ketosteroidreductase deficiency"^^xsd:string, "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string, "male pseudohermaphroditism with gynecomastia"^^xsd:string, "neutral 17-beta-hydroxysteroid oxidoreductase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112248"^^xsd:string ; a owl:Class ; rdfs:label "17-beta hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112249 obo:IAO_0000115 "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:230740"^^xsd:string, "ORDO:2067"^^xsd:string ; oboInOwl:hasExactSynonym "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112249"^^xsd:string ; a owl:Class ; rdfs:label "GAPO syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112250 obo:IAO_0000115 "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231005"^^xsd:string, "ORDO:2072"^^xsd:string ; oboInOwl:hasExactSynonym "GD3C"^^xsd:string, "Gaucher disease type 3C"^^xsd:string, "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"^^xsd:string, "Gaucher-like disease"^^xsd:string, "cardiovascular Gaucher disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112250"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type IIIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0110959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112251 obo:IAO_0000115 "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:10297"^^xsd:string, "OMIM:231095"^^xsd:string, "ORDO:1802"^^xsd:string ; oboInOwl:hasExactSynonym "Ghosal hematodiaphyseal dysplasia"^^xsd:string, "Ghosal syndrome"^^xsd:string, "diaphyseal dysplasia-anemia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112251"^^xsd:string ; a owl:Class ; rdfs:label "Ghosal hematodiaphyseal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112252 obo:IAO_0000115 "A glutathione synthetase deficiency characterized by hemolitic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231900"^^xsd:string, "ORDO:289849"^^xsd:string ; oboInOwl:hasExactSynonym "glutathione synthetase deficiency without 5-oxoprolinuria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112252"^^xsd:string ; a owl:Class ; rdfs:label "hemolytic anemia due to glutathione synthetase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080699, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112253 obo:IAO_0000115 "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:13587"^^xsd:string, "OMIM:233650"^^xsd:string, "ORDO:157949"^^xsd:string ; oboInOwl:hasExactSynonym "CCHIDG"^^xsd:string, "CID due to RAG 1/2 deficiency"^^xsd:string, "combined immunodeficiency due to RAG 1/2 deficiency"^^xsd:string, "combined immunodeficiency with granulomatosis"^^xsd:string, "combined immunodeficiency with skin granulomas"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112253"^^xsd:string ; a owl:Class ; rdfs:label "combined cellular and humoral immune defects with granulomas"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112254 obo:IAO_0000115 "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10083"^^xsd:string, "OMIM:235550"^^xsd:string, "ORDO:79124"^^xsd:string ; oboInOwl:hasExactSynonym "VODI"^^xsd:string, "hepatic veno-occlusive disease-immunodeficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112254"^^xsd:string ; a owl:Class ; rdfs:label "hepatic venoocclusive disease with immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112255 obo:IAO_0000115 "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTRR on chromosome 5p15.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236270"^^xsd:string, "ORDO:2169"^^xsd:string ; oboInOwl:hasExactSynonym "HMAE"^^xsd:string, "functional methionine synthase deficiency type cblE"^^xsd:string, "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type"^^xsd:string, "methylcobalamin deficiency, cblE type"^^xsd:string, "vitamin B12-responsive homocystinuria, cblE type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112255"^^xsd:string ; a owl:Class ; rdfs:label "homocystinuria-megaloblastic anemia cblE type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112256 obo:IAO_0000115 "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:3577"^^xsd:string, "OMIM:250940"^^xsd:string, "ORDO:2170"^^xsd:string ; oboInOwl:hasExactSynonym "HMAG"^^xsd:string, "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type"^^xsd:string, "homocystinuria-megaloblastic anemia, cblG complementation type"^^xsd:string, "methylcobalamin deficiency, cblG type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112256"^^xsd:string ; a owl:Class ; rdfs:label "homocystinuria-megaloblastic anemia cblG type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112257 obo:IAO_0000115 "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10039"^^xsd:string, "OMIM:236800"^^xsd:string, "ORDO:79155"^^xsd:string ; oboInOwl:hasExactSynonym "kynureninase deficiency"^^xsd:string, "xanthurenic aciduria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112257"^^xsd:string ; a owl:Class ; rdfs:label "hydroxykynureninuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112258 obo:IAO_0000115 "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:7158"^^xsd:string, "OMIM:237310"^^xsd:string, "ORDO:927"^^xsd:string ; oboInOwl:hasExactSynonym "N-acetyl glutamate synthetase deficiency"^^xsd:string, "N-acetylglutamate synthetase deficiency"^^xsd:string, "NAG synthetase deficiency"^^xsd:string, "NAGS deficiency"^^xsd:string, "hyperammonemia due to N-acetylglutamate synthase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112258"^^xsd:string ; a owl:Class ; rdfs:label "N-acetylglutamate synthase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112259 obo:IAO_0000115 "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3244"^^xsd:string, "MEDDRA:10024406"^^xsd:string, "ORDO:755"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to LH resistance or LHB deficiency"^^xsd:string, "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string, "46,XY disorder of sex development due to LH resistance or LHB deficiency"^^xsd:string, "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112259"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112260 obo:IAO_0000115 "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:238320"^^xsd:string, "ORDO:96265"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to complete LH receptor inactivation"^^xsd:string, "46,XY DSD due to complete LH resistance"^^xsd:string, "46,XY DSD due to complete luteinizing hormone receptor inactivation"^^xsd:string, "46,XY DSD due to complete luteinizing hormone resistance"^^xsd:string, "46,XY disorder of sex development due to complete LH receptor inactivation"^^xsd:string, "46,XY disorder of sex development due to complete LH resistance"^^xsd:string, "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation"^^xsd:string, "46,XY disorder of sex development due to complete luteinizing hormone resistance"^^xsd:string, "Leydig cell hypoplasia due to complete LH receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to complete luteinizing hormone resistance"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112260"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0112259, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112261 obo:IAO_0000115 "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "ORDO:96266"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to partial LH receptor inactivation"^^xsd:string, "46,XY DSD due to partial LH resistance"^^xsd:string, "46,XY DSD due to partial luteinizing hormone resistance"^^xsd:string, "46,XY disorder of sex developement due to partial LH receptor inactivation"^^xsd:string, "46,XY disorder of sex developement due to partial LH resistance"^^xsd:string, "46,XY disorder of sex developement due to partial luteinizing hormone resistance"^^xsd:string, "Leydig cell hypoplasia due to partial LH receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to partial LH resistance"^^xsd:string, "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to partial luteinizing hormone resistance"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112261"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0112259, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112262 obo:IAO_0000115 "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in SUR1 on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9915"^^xsd:string, "OMIM:240800"^^xsd:string ; oboInOwl:hasExactSynonym "LIH"^^xsd:string, "leucine-induced hypoglycemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112262"^^xsd:string ; a owl:Class ; rdfs:label "leucine-sensitive hypoglycemia of infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112263 obo:IAO_0000115 "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:240900"^^xsd:string, "ORDO:293964"^^xsd:string ; oboInOwl:hasExactSynonym "HIHGHH"^^xsd:string, "hypoinsulinemic hypoglycemia and body hemihypertrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112263"^^xsd:string ; a owl:Class ; rdfs:label "hypoinsulinemic hypoglycemia with hemihypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112264 obo:IAO_0000115 "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5592"^^xsd:string, "MESH:C536742"^^xsd:string, "OMIM:241080"^^xsd:string, "ORDO:3464"^^xsd:string ; oboInOwl:hasExactSynonym "diabetes-hypogonadism-deafness-intellectual disability syndrome"^^xsd:string, "diabetes-hypogonadism-hearing loss-intellectual disability syndrome"^^xsd:string, "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome"^^xsd:string, "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112264"^^xsd:string ; a owl:Class ; rdfs:label "Woodhouse-Sakati syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112265 obo:IAO_0000115 "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:8424"^^xsd:string, "MESH:C536285"^^xsd:string, "OMIM:242600"^^xsd:string, "ORDO:42062"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112265"^^xsd:string ; a owl:Class ; rdfs:label "iminoglycinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0112266 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619201"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112266"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112267 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618594"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112267"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112268 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in NOS1AP on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619155"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS22"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112268"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112269 obo:IAO_0000115 "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619203"^^xsd:string ; oboInOwl:hasExactSynonym "POF18"^^xsd:string, "premature ovarian failure 18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112269"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112270 obo:IAO_0000115 "An azoospermia characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619202"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF52"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112270"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112271 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP58 on chromosome 10q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619144"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF98"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112271"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112272 obo:IAO_0000115 "An azoospermia characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in XRCC2 on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619145"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112272"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112273 obo:IAO_0000115 "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP91 on chromosome 3q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619177"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112273"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112274 obo:IAO_0000115 "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in CFAP47 on chromosome Xp21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301059"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112274"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112275 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618012"^^xsd:string ; oboInOwl:hasExactSynonym "DEE93"^^xsd:string, "IECEE3"^^xsd:string, "infantile or early childhood epileptic encephalopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112275"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112276 obo:IAO_0000115 "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of GNAO1 on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617493"^^xsd:string ; oboInOwl:hasExactSynonym "NEDIM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112276"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with involuntary movements"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112277 obo:IAO_0000115 "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619238"^^xsd:string ; oboInOwl:hasExactSynonym "IMD79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112277"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112278 obo:IAO_0000115 "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in HSF2BP on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619245"^^xsd:string ; oboInOwl:hasExactSynonym "POF19"^^xsd:string, "POI19"^^xsd:string, "premature ovarian failure 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112278"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112279 obo:IAO_0000115 "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in ACTL9 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619258"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112279"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112280 obo:IAO_0000115 "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7687"^^xsd:string ; oboInOwl:hasExactSynonym "SED"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112280"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0112281 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616583"^^xsd:string, "ORDO:459051"^^xsd:string ; oboInOwl:hasExactSynonym "SED Stanescu type"^^xsd:string, "SEDSTN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112281"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Stanescu type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112282 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564252"^^xsd:string, "OMIM:608361"^^xsd:string, "ORDO:93283"^^xsd:string, "SNOMEDCT_US_2021_03_01:719203001"^^xsd:string, "UMLS_CUI:C1842149"^^xsd:string ; oboInOwl:hasExactSynonym "SEDK"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112282"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Kimberley type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112283 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618392"^^xsd:string ; oboInOwl:hasExactSynonym "SED with elevated blood lysosomal enzymes"^^xsd:string, "SEDKF"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112283"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Kondo-Fu type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112284 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth."^^xsd:string ; oboInOwl:hasDbXref "ORDO:93284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112284"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112285 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10624"^^xsd:string, "OMIM:184100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112285"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112286 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma."^^xsd:string ; oboInOwl:hasDbXref "OMIM:183850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112286"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with punctate corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112287 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech."^^xsd:string ; oboInOwl:hasDbXref "GARD:10629"^^xsd:string, "MESH:C567128"^^xsd:string, "OMIM:611717"^^xsd:string, "ORDO:163654"^^xsd:string, "SNOMEDCT_US_2021_03_01:718765003"^^xsd:string, "UMLS_CUI:C2673649"^^xsd:string ; oboInOwl:hasExactSynonym "Fantasy Island syndrome"^^xsd:string, "SED-BDS"^^xsd:string, "SED-brachydactyly and distinctive speech"^^xsd:string, "Tattoo dysplasia"^^xsd:string, "spondyloepiphyseal dysplasia, Cantu type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112287"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112288 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618618"^^xsd:string ; oboInOwl:hasExactSynonym "SEDN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112288"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Nishimura type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112289 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112289"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with characteristic facies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112290 obo:IAO_0000115 "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619260"^^xsd:string ; oboInOwl:hasExactSynonym "SHILCA syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112290"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112291 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112291"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112292 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564796"^^xsd:string, "OMIM:271620"^^xsd:string, "ORDO:163665"^^xsd:string, "UMLS_CUI:C1849053"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112292"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112293 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112293"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112294 obo:IAO_0000115 "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602611"^^xsd:string, "ORDO:163649"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112294"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112295 obo:IAO_0000115 "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions."^^xsd:string ; oboInOwl:hasDbXref "ORDO:254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112295"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0112296 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:504"^^xsd:string, "MESH:C535794"^^xsd:string, "OMIM:184253"^^xsd:string, "ORDO:93316"^^xsd:string, "SNOMEDCT_US_2021_03_01:719304005"^^xsd:string, "UMLS_CUI:C1866688"^^xsd:string ; oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia with severe genu valgum"^^xsd:string, "spondylometaphyseal dysplasia, Schmidt type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112296"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Algerian type"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112297 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:4991"^^xsd:string, "MESH:C535793"^^xsd:string, "OMIM:184255"^^xsd:string, "ORDO:93315"^^xsd:string, "SNOMEDCT_US_2021_03_01:254078005"^^xsd:string, "UMLS_CUI:C0432221"^^xsd:string ; oboInOwl:hasExactSynonym "SMDCF"^^xsd:string, "spondylometaphyseal dysplasia Sutcliffe type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112297"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia corner fracture type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112298 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4993"^^xsd:string, "MESH:C535798"^^xsd:string, "OMIM:250220"^^xsd:string, "ORDO:93317"^^xsd:string, "UMLS_CUI:C1855229"^^xsd:string ; oboInOwl:hasExactSynonym "SMDS"^^xsd:string, "Sedaghatian chondrodysplasia"^^xsd:string, "congenital lethal metaphyseal chondrodysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112298"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Sedaghatian type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112299 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in CFAP410 on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8720"^^xsd:string, "MESH:C535795"^^xsd:string, "OMIM:602271"^^xsd:string, "ORDO:168549"^^xsd:string, "SNOMEDCT_US_2021_03_01:771301002"^^xsd:string, "UMLS_CUI:C1865695"^^xsd:string ; oboInOwl:hasExactSynonym "SMD axial"^^xsd:string, "SMDAX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112299"^^xsd:string ; a owl:Class ; rdfs:label "axial spondylometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112300 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:10647"^^xsd:string, "MESH:C563825"^^xsd:string, "OMIM:608940"^^xsd:string, "ORDO:85167"^^xsd:string, "UMLS_CUI:C1837073"^^xsd:string ; oboInOwl:hasExactSynonym "SMD-CRD"^^xsd:string, "SMDCRD"^^xsd:string, "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112300"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112301 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities."^^xsd:string ; oboInOwl:hasDbXref "GARD:458"^^xsd:string, "MESH:C563803"^^xsd:string, "OMIM:609052"^^xsd:string, "ORDO:168555"^^xsd:string, "SNOMEDCT_US_2021_03_01:782912001"^^xsd:string, "UMLS_CUI:C1836862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112301"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia type A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112302 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies."^^xsd:string ; oboInOwl:hasDbXref "GARD:4992"^^xsd:string, "OMIM:611702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112302"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia East African type"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112303 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618961"^^xsd:string ; oboInOwl:hasExactSynonym "SMDCD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112303"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112304 obo:IAO_0000115 "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613320"^^xsd:string, "ORDO:401979"^^xsd:string ; oboInOwl:hasExactSynonym "Megarbane-Dagher-Melike type chondrodysplasia"^^xsd:string, "SMDMDM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112304"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112305 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia."^^xsd:string ; oboInOwl:hasDbXref "GARD:8719"^^xsd:string, "MESH:C535791"^^xsd:string, "OMIM:607543"^^xsd:string, "ORDO:168552"^^xsd:string, "UMLS_CUI:C1843706"^^xsd:string ; oboInOwl:hasExactSynonym "SMD with bowed forearms and facial dysmorphism"^^xsd:string, "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112305"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112306 obo:IAO_0000115 "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10460"^^xsd:string, "ORDO:438274"^^xsd:string ; oboInOwl:hasExactSynonym "GCGR-related hyperglucagonemia"^^xsd:string, "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112306"^^xsd:string ; a owl:Class ; rdfs:label "Mahvash Disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1428, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112307 obo:IAO_0000115 "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:158"^^xsd:string, "ICD10CM:E72.59"^^xsd:string, "MEDDRA:10059299"^^xsd:string, "MESH:C537236"^^xsd:string, "OMIM:268900"^^xsd:string, "ORDO:3129"^^xsd:string, "SNOMEDCT_US_2021_03_01:64852002"^^xsd:string, "UMLS_CUI:C0268563"^^xsd:string, "ulr:https://pubmed.ncbi.nlm.nih.gov/22825317/"^^xsd:string ; oboInOwl:hasExactSynonym "SARCOS"^^xsd:string, "SARD deficiency"^^xsd:string, "SARDH deficiency"^^xsd:string, "demethylation defect of N-methylglycine"^^xsd:string, "sarcosine dehydrogenase complex deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112307"^^xsd:string ; a owl:Class ; rdfs:label "sarcosinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112308 obo:IAO_0000115 "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E22.8"^^xsd:string, "MESH:D011629"^^xsd:string, "NCI:C113217"^^xsd:string, "ORDO:759"^^xsd:string, "SNOMEDCT_US_2021_03_01:237816004"^^xsd:string, "UMLS_CUI:C0342543"^^xsd:string ; oboInOwl:hasExactSynonym "CPP"^^xsd:string, "gonadotropin-dependant precocious puberty"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112308"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty"^^xsd:string ; rdfs:subClassOf obo:DOID_28 . obo:DOID_0112309 obo:IAO_0000115 "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of MKRN3 chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615346"^^xsd:string ; oboInOwl:hasExactSynonym "CPPB2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112309"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112308, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112310 obo:IAO_0000115 "A central precocious puberty that has_material_basis_in heterozygous mutation in KISS1R on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:176400"^^xsd:string ; oboInOwl:hasExactSynonym "CPPB1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112310"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112308, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_070355 obo:IAO_0000115 "A motor neuron disease that has material_basis_in some inheritance and affects muscle, bone, and the nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:070355"^^xsd:string ; a owl:Class ; rdfs:label "multisystem proteinopathy"@en ; rdfs:subClassOf obo:DOID_231 . obo:DOID_100 obo:IAO_0000115 "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10960"^^xsd:string, "DOID:12509"^^xsd:string, "DOID:5270"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A00-A09"^^xsd:string, "ICD9CM:001-009.99"^^xsd:string, "SNOMEDCT_US_2021_03_01:187266003"^^xsd:string, "UMLS_CUI:C0178238"^^xsd:string ; oboInOwl:hasExactSynonym "bacterial enteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:100"^^xsd:string ; a owl:Class ; rdfs:comment "Updating outdated UMLS CUI."^^xsd:string ; rdfs:label "intestinal infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10000 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual cortex disorder due to neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10003 obo:IAO_0000115 "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11053"^^xsd:string, "DOID:12112"^^xsd:string, "DOID:12114"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.5"^^xsd:string, "ICD9CM:389.1"^^xsd:string, "MESH:D006319"^^xsd:string, "NCI:C26739"^^xsd:string, "SNOMEDCT_US_2021_03_01:60700002"^^xsd:string, "UMLS_CUI:C0018784"^^xsd:string ; oboInOwl:hasExactSynonym "High Frequency Hearing Loss"@en, "High frequency deafness"@en, "Perceptive deafness"@en, "Perceptive hearing loss"@en, "Perceptive hearing loss or deafness"@en, "Sensorineural Deafness"@en, "Sensory hearing loss"@en, "central hearing loss"@en, "high-frequency hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10003"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "sensorineural hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 ; skos:exactMatch "MESH:D006319"^^xsd:string . obo:DOID_10007 obo:IAO_0000115 "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10006"^^xsd:string, "DOID:2941"^^xsd:string ; oboInOwl:hasExactSynonym "acute bronchiolitis due to RSV"@en, "capillary pneumonia"@en, "viral bronchiolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10007"^^xsd:string ; a owl:Class ; rdfs:label "obsolete respiratory syncytial virus bronchiolitis"^^xsd:string ; owl:deprecated true . obo:DOID_1001 oboInOwl:hasExactSynonym "Labour complications"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete labor complications"^^xsd:string ; owl:deprecated true . obo:DOID_10011 obo:IAO_0000115 "A thyroid gland cancer that has_material_basis_in lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5265"^^xsd:string, "UMLS_CUI:C1336753"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10011"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1781, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10012 oboInOwl:hasExactSynonym "metastatic tumor to the Thyroid"@en, "secondary malignant neoplasm of thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10012"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant neoplasm to the thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_10013 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10013"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyglandular activity in multiple endocrine adenomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_10015 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyglandular dysfunction"^^xsd:string ; owl:deprecated true . obo:DOID_10016 obo:IAO_0000115 "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E31.23"^^xsd:string, "ICD9CM:258.03"^^xsd:string, "MESH:D018814"^^xsd:string, "NCI:C3227"^^xsd:string, "OMIM:162300"^^xsd:string, "ORDO:247709"^^xsd:string, "SNOMEDCT_US_2021_03_01:61530001"^^xsd:string, "UMLS_CUI:C0025269"^^xsd:string ; oboInOwl:hasExactSynonym "MEN type IIB"@en, "MEN2B"@en, "Multiple endocrine neoplasia, type 3"@en, "Wagenmann-Froboese syndrome"@en, "mucosal neuroma syndrome"@en, "multiple endocrine neoplasia type 2b"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10016"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10017 obo:IAO_0000115 "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas."^^xsd:string ; oboInOwl:hasDbXref "GARD:3829"^^xsd:string, "ICD10CM:E31.21"^^xsd:string, "ICD9CM:258.01"^^xsd:string, "MESH:D018761"^^xsd:string, "NCI:C3225"^^xsd:string, "OMIM:131100"^^xsd:string, "ORDO:652"^^xsd:string, "SNOMEDCT_US_2021_03_01:30664006"^^xsd:string, "UMLS_CUI:C0025267"^^xsd:string ; oboInOwl:hasExactSynonym "MEN type I"@en, "Wermer syndrome"@en, "Wermer's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10017"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10018 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papilledema associated with increased intracranial pressure"^^xsd:string ; owl:deprecated true . obo:DOID_1002 obo:IAO_0000115 "An endometrial disease that is characterized by inflammation of the endometrium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004716"^^xsd:string, "NCI:C26764"^^xsd:string, "SNOMEDCT_US_2021_03_01:155975003"^^xsd:string, "UMLS_CUI:C0014179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1005, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10020 obo:IAO_0000115 "A duodenum cancer that is located_in the ampulla of Vater."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C24.1"^^xsd:string, "ICD9CM:156.2"^^xsd:string, "NCI:C3536"^^xsd:string, "SNOMEDCT_US_2021_03_01:93668007"^^xsd:string, "UMLS_CUI:C0153454"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of ampulla of vater"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10020"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10021, obo:DOID_4606 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] ) ] . obo:DOID_10021 obo:IAO_0000115 "A small intestine cancer that is located_in the beginning section of the small intestine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6072"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C17.0"^^xsd:string, "ICD9CM:152.0"^^xsd:string, "MESH:D004379"^^xsd:string, "NCI:C4803"^^xsd:string, "NCI:C9328"^^xsd:string, "SNOMEDCT_US_2021_03_01:254570009"^^xsd:string, "SNOMEDCT_US_2021_03_01:363403002"^^xsd:string, "UMLS_CUI:C0153426"^^xsd:string, "UMLS_CUI:C0541912"^^xsd:string ; oboInOwl:hasExactSynonym "Duodenal cancer"@en, "cancer of duodenum"@en, "duodenal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10021"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "duodenum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10154, obo:DOID_4072 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] ) ] . obo:DOID_10022 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the ampulla of Vater."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4443"^^xsd:string, "SNOMEDCT_US_2021_03_01:126858004"^^xsd:string, "UMLS_CUI:C0345916"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the ampulla of Vater"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_1737, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] . obo:DOID_10024 obo:IAO_0000115 "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10025"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G43.1"^^xsd:string, "ICD9CM:346.0"^^xsd:string, "MESH:D020325"^^xsd:string, "NCI:C117005"^^xsd:string, "OMIM:609179"^^xsd:string, "OMIM:609670"^^xsd:string, "SNOMEDCT_US_2021_03_01:155047002"^^xsd:string, "UMLS_CUI:C0154723"^^xsd:string ; oboInOwl:hasExactSynonym "classic migraine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "migraine with aura"^^xsd:string ; rdfs:subClassOf obo:DOID_6364 . obo:DOID_10027 obo:IAO_0000115 "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:8730"^^xsd:string, "ICD10CM:A52.11"^^xsd:string, "ICD9CM:094.0"^^xsd:string, "MESH:D013606"^^xsd:string, "NCI:C35057"^^xsd:string, "SNOMEDCT_US_2021_03_01:266134000"^^xsd:string, "UMLS_CUI:C0039223"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior spinal sclerosis"@en, "Tabes dorsalis - neurosyphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10027"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "tabes dorsalis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000300 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000427 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000435 ] . obo:DOID_1003 obo:IAO_0000115 "A female reproductive system disease that is characterized by an infection of the female reproductive organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N73.9"^^xsd:string, "ICD9CM:614.9"^^xsd:string, "MESH:D000292"^^xsd:string, "NCI:C3889"^^xsd:string, "SNOMEDCT_US_2021_03_01:266648001"^^xsd:string, "UMLS_CUI:C0242172"^^xsd:string ; oboInOwl:hasExactSynonym "PID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pelvic inflammatory disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] . obo:DOID_10030 obo:IAO_0000115 "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.2"^^xsd:string, "ICD9CM:518.1"^^xsd:string, "NCI:C34571"^^xsd:string, "SNOMEDCT_US_2021_03_01:11211003"^^xsd:string, "UMLS_CUI:C1370824"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary interstitial emphysema"^^xsd:string ; rdfs:subClassOf obo:DOID_9675 . obo:DOID_10031 obo:IAO_0000115 "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.3"^^xsd:string, "ICD9CM:518.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:33325001"^^xsd:string, "UMLS_CUI:C0155918"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10031"^^xsd:string ; a owl:Class ; rdfs:label "compensatory emphysema"^^xsd:string ; rdfs:subClassOf obo:DOID_9675 . obo:DOID_10032 obo:IAO_0000115 "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019568"^^xsd:string, "UMLS_CUI:C0524799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10032"^^xsd:string ; a owl:Class ; rdfs:label "hyperlucent lung"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_10033 obo:IAO_0000115 "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H52.52"^^xsd:string, "ICD9CM:367.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:68158006"^^xsd:string, "UMLS_CUI:C0235238"^^xsd:string ; oboInOwl:hasExactSynonym "Ciliary muscle paresis"@en, "Cycloplegic paralysis of accommodation"@en, "Paresis of accommodation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10033"^^xsd:string ; a owl:Class ; rdfs:label "cycloplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_10034 obo:IAO_0000115 "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H52.5"^^xsd:string, "ICD9CM:367.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:155137002"^^xsd:string, "UMLS_CUI:C0152198"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10034"^^xsd:string ; a owl:Class ; rdfs:label "eye accommodation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_10035 obo:IAO_0000115 "A tertiary neurosyphilis that results_in mild meningitis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A52.2"^^xsd:string, "ICD9CM:094.3"^^xsd:string, "MESH:D009494"^^xsd:string, "SNOMEDCT_US_2021_03_01:37754005"^^xsd:string, "UMLS_CUI:C0153167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10035"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "asymptomatic neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ] . obo:DOID_10038 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete old burn scar-related melanoma of skin"^^xsd:string ; owl:deprecated true . obo:DOID_10039 obo:IAO_0000115 "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10796"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A50.40"^^xsd:string, "ICD10CM:A50.5"^^xsd:string, "ICD9CM:090.4"^^xsd:string, "ICD9CM:090.5"^^xsd:string, "MESH:D009494"^^xsd:string, "SNOMEDCT_US_2021_03_01:187350002"^^xsd:string, "SNOMEDCT_US_2021_03_01:4243004"^^xsd:string, "UMLS_CUI:C0153132"^^xsd:string, "UMLS_CUI:C0153136"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile neurosyphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10039"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "late congenital syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9856, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_10040 obo:IAO_0000115 "A skin melanoma that arises from the upper or lower eyelid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4358"^^xsd:string, "SNOMEDCT_US_2021_03_01:231834005"^^xsd:string, "UMLS_CUI:C0339116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10040"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant eyelid melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10041 obo:IAO_0000115 "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members."^^xsd:string ; oboInOwl:hasDbXref "GARD:9281"^^xsd:string, "MESH:D004416"^^xsd:string, "UMLS_CUI:C0205747"^^xsd:string ; oboInOwl:hasExactSynonym "FAMM syndrome"@en, "familial atypical multiple mole-melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10041"^^xsd:string ; a owl:Class ; rdfs:label "dysplastic nevus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:D004416"^^xsd:string . obo:DOID_10042 oboInOwl:hasExactSynonym "regressing malignant melanoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10042"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regressing skin melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10044 obo:IAO_0000115 "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4227"^^xsd:string, "SNOMEDCT_US_2021_03_01:403922007"^^xsd:string, "UMLS_CUI:C0334426"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balloon cell malignant melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10045 oboInOwl:hasExactSynonym "malignant melanoma in congenital melanocytic naevus"@en, "skin melanoma in Giant Pigmented nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant giant pigmented nevus melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10047 obo:IAO_0000115 "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule."^^xsd:string ; oboInOwl:hasDbXref "GARD:9961"^^xsd:string, "NCI:C4225"^^xsd:string, "SNOMEDCT_US_2021_03_01:2142002"^^xsd:string, "UMLS_CUI:C0334424"^^xsd:string ; oboInOwl:hasExactSynonym "nodular melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10047"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular malignant melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10048 oboInOwl:hasExactSynonym "malignant melanoma in junctional nevus (morphologic abnormality)"@en, "melanoma in Junctional nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10048"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant junctional nevus melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10049 obo:IAO_0000115 "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10049"^^xsd:string ; a owl:Class ; rdfs:label "obsolete desmoplastic melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_1005 obo:IAO_0000115 "A uterine disease that is located_in the endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3504"^^xsd:string, "SNOMEDCT_US_2021_03_01:418632009"^^xsd:string, "UMLS_CUI:C0151622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1005"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_10053 oboInOwl:hasExactSynonym "Blue nevus-Like melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant skin blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_10054 obo:IAO_0000115 "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4633"^^xsd:string, "SNOMEDCT_US_2021_03_01:276751004"^^xsd:string, "UMLS_CUI:C0349515"^^xsd:string ; oboInOwl:hasExactSynonym "skin amelanotic malignant melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin amelanotic melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10059 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10059"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10066 obo:IAO_0000115 "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10066"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic acoustic neuritis"^^xsd:string ; owl:deprecated true . obo:DOID_10069 obo:IAO_0000115 "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4426"^^xsd:string, "SNOMEDCT_US_2021_03_01:126696001"^^xsd:string, "UMLS_CUI:C0345746"^^xsd:string ; oboInOwl:hasExactSynonym "Subglottic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10069"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2598 . obo:DOID_10070 obo:IAO_0000115 "A laryngeal benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6027"^^xsd:string, "UMLS_CUI:C1334370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10070"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_2598, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_10071 obo:IAO_0000115 "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7742"^^xsd:string, "SNOMEDCT_US_2021_03_01:269637007"^^xsd:string, "UMLS_CUI:C0240164"^^xsd:string ; oboInOwl:hasExactSynonym "Laryngeal Squamous Cell Papilloma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10071"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2598, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019181 ] . obo:DOID_10073 obo:IAO_0000115 "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord."^^xsd:string ; oboInOwl:hasDbXref "GARD:8731"^^xsd:string, "ICD9CM:094.2"^^xsd:string, "MESH:C536775"^^xsd:string, "SNOMEDCT_US_2021_03_01:14968007"^^xsd:string, "UMLS_CUI:C0153166"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10073"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "syphilitic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10074 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness."^^xsd:string ; oboInOwl:hasDbXref "GARD:2787"^^xsd:string, "ICD10CM:B71.0"^^xsd:string, "ICD9CM:123.6"^^xsd:string, "MESH:D006925"^^xsd:string, "NCI:C84768"^^xsd:string, "SNOMEDCT_US_2021_03_01:187153007"^^xsd:string, "UMLS_CUI:C0020413"^^xsd:string ; oboInOwl:hasExactSynonym "Hymenolepis infectious disease"@en, "dwarf tapeworm infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hymenolepiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6215 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_10075 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia."^^xsd:string ; oboInOwl:hasDbXref "GARD:942"^^xsd:string, "ICD10CM:B70.0"^^xsd:string, "ICD9CM:123.4"^^xsd:string, "MESH:D004169"^^xsd:string, "NCI:C128391"^^xsd:string, "SNOMEDCT_US_2021_03_01:187151009"^^xsd:string, "UMLS_CUI:C0012561"^^xsd:string ; oboInOwl:hasExactSynonym "Diphyllobothrium infection"@en, "fish tapeworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10075"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diphyllobothriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_60516 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; skos:exactMatch "MESH:D004169"^^xsd:string . obo:DOID_10079 obo:IAO_0000115 "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10078"^^xsd:string, "DOID:14424"^^xsd:string ; oboInOwl:hasDbXref "GARD:8194"^^xsd:string, "ICD10CM:B69"^^xsd:string, "ICD9CM:123.1"^^xsd:string, "MESH:D003551"^^xsd:string, "NCI:C34520"^^xsd:string, "SNOMEDCT_US_2021_03_01:59051007"^^xsd:string, "UMLS_CUI:C0010678"^^xsd:string ; oboInOwl:hasExactSynonym "Pork tapeworm infection"@en, "Tapeworm infection: intestinal taenia solum"@en, "Tapeworm infection: pork"@en, "intestinal taenia solium infection"@en, "neurocysticercosis"@en, "tenia solium infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10079"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cysticercosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050596, obo:DOID_0080000, obo:DOID_114, obo:DOID_331, obo:DOID_37, obo:DOID_5614, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_10080 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B70.1"^^xsd:string, "ICD9CM:123.5"^^xsd:string, "MESH:D013031"^^xsd:string, "NCI:C35030"^^xsd:string, "SNOMEDCT_US_2021_03_01:187152002"^^xsd:string, "UMLS_CUI:C0037753"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Sparganum"@en, "Sparganosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sparganosis"^^xsd:string ; rdfs:subClassOf obo:DOID_18, obo:DOID_2952, obo:DOID_3463, obo:DOID_850, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001846 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002402 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004867 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011818 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0017672 ] ) ] ; skos:exactMatch "MESH:D013031"^^xsd:string . obo:DOID_10081 obo:IAO_0000115 "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:094.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:26135000"^^xsd:string, "UMLS_CUI:C0153168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10081"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "syphilitic encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_10087 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3876"^^xsd:string, "SNOMEDCT_US_2021_03_01:276812001"^^xsd:string, "UMLS_CUI:C0238440"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10087"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 . obo:DOID_10095 obo:IAO_0000115 "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:324.0"^^xsd:string, "NCI:C34734"^^xsd:string, "SNOMEDCT_US_2021_03_01:192738001"^^xsd:string, "UMLS_CUI:C0021874"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10095"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_10111 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vagina, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10112 obo:IAO_0000115 "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B56"^^xsd:string, "ICD9CM:086.5"^^xsd:string, "KEGG:05143"^^xsd:string, "MESH:D014353"^^xsd:string, "NCI:C84541"^^xsd:string, "SNOMEDCT_US_2021_03_01:27031003"^^xsd:string, "UMLS_CUI:C0041228"^^xsd:string ; oboInOwl:hasExactSynonym "African sleeping sickness"@en, "African trypanosomiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sleeping sickness"^^xsd:string ; rdfs:subClassOf obo:DOID_10113 . obo:DOID_10113 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B57.2"^^xsd:string, "ICD9CM:086"^^xsd:string, "MEDDRA:10044707"^^xsd:string, "MESH:D014352"^^xsd:string, "SNOMEDCT_US_2021_03_01:266205000"^^xsd:string, "UMLS_CUI:C0041227"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10113"^^xsd:string ; a owl:Class ; rdfs:label "trypanosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5690 ] . obo:DOID_10114 obo:IAO_0000115 "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems."^^xsd:string ; oboInOwl:hasExactSynonym "East African trypanosomiasis"@en, "Rhodesian sleeping sickness"@en, "Rhodesian trypanosomiasis"@en, "trypanosoma rhodesiense infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10114"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma brucei rhodesiense infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10116 obo:IAO_0000115 "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems."^^xsd:string ; oboInOwl:hasExactSynonym "Gambian Trypanosomiasis"@en, "Gambian sleeping sickness"@en, "West African trypanosomiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10116"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma brucei gambiense infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10120 oboInOwl:hasDbXref "ICD9CM:374.50"^^xsd:string, "SNOMEDCT_US_2020_09_01:1112003"^^xsd:string, "UMLS_CUI:C0155209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10120"^^xsd:string ; a owl:Class ; rdfs:comment "category only, removed[LS]"^^xsd:string ; rdfs:label "obsolete eyelid degenerative disease"^^xsd:string ; owl:deprecated true . obo:DOID_10121 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete degenerative disorder of eyelid and periocular area"^^xsd:string ; owl:deprecated true . obo:DOID_10122 obo:IAO_0000115 "An eyelid disease that is characterized by dark eyelids."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.71"^^xsd:string, "ICD9CM:374.52"^^xsd:string, "MESH:C562400"^^xsd:string, "OMIM:145100"^^xsd:string, "SNOMEDCT_US_2021_03_01:41115008"^^xsd:string, "UMLS_CUI:C0155211"^^xsd:string ; oboInOwl:hasExactSynonym "dark eyelids"^^xsd:string, "dyspigmentation of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10122"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperpigmentation of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_10123, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_10123 obo:IAO_0000115 "A skin disease that is characterized by discoloration of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:709.09"^^xsd:string, "UMLS_CUI:C0375489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10123"^^xsd:string ; a owl:Class ; rdfs:label "pigmentation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_10124 obo:IAO_0000115 "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2284"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.9"^^xsd:string, "ICD9CM:371.9"^^xsd:string, "MESH:D003316"^^xsd:string, "NCI:C26731"^^xsd:string, "SNOMEDCT_US_2021_03_01:15250008"^^xsd:string, "UMLS_CUI:C0010034"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10124"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_10125 obo:IAO_0000115 "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:371.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:111523009"^^xsd:string, "UMLS_CUI:C0339286"^^xsd:string ; oboInOwl:hasExactSynonym "Keratoconus, acute hydrops"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10125"^^xsd:string ; a owl:Class ; rdfs:label "acute hydrops keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10126 . obo:DOID_10126 obo:IAO_0000115 "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape."^^xsd:string ; oboInOwl:hasDbXref "GARD:6824"^^xsd:string, "ICD10CM:H18.6"^^xsd:string, "ICD9CM:371.6"^^xsd:string, "MESH:D007640"^^xsd:string, "NCI:C26806"^^xsd:string, "OMIM:148300"^^xsd:string, "OMIM:608586"^^xsd:string, "OMIM:608932"^^xsd:string, "OMIM:609271"^^xsd:string, "OMIM:614622"^^xsd:string, "OMIM:614623"^^xsd:string, "OMIM:614628"^^xsd:string, "OMIM:614629"^^xsd:string, "ORDO:156071"^^xsd:string, "SNOMEDCT_US_2021_03_01:267733008"^^xsd:string, "UMLS_CUI:C0022578"^^xsd:string ; oboInOwl:hasExactSynonym "conical cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10126"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_10127 obo:IAO_0000115 "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:434"^^xsd:string, "SNOMEDCT_US_2021_03_01:20059004"^^xsd:string, "UMLS_CUI:C0028790"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10127"^^xsd:string ; a owl:Class ; rdfs:label "cerebral artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_10128 obo:IAO_0000115 "A vein disease that is characterized by impaired flow of blood through the veins."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:459.81"^^xsd:string, "MESH:D014689"^^xsd:string, "NCI:C127822"^^xsd:string, "SNOMEDCT_US_2021_03_01:20696009"^^xsd:string, "UMLS_CUI:C0042485"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral venous insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "venous insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_866 . obo:DOID_10131 obo:IAO_0000115 "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F52.5"^^xsd:string, "ICD9CM:306.51"^^xsd:string, "NCI:C35113"^^xsd:string, "SNOMEDCT_US_2021_03_01:71787009"^^xsd:string, "UMLS_CUI:C0042266"^^xsd:string ; oboInOwl:hasExactSynonym "Functional vaginismus"@en, "Non-organic vaginismus"@en, "Psychogenic Vaginismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10131"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "psychologic vaginismus"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_10132 obo:IAO_0000115 "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:302.79"^^xsd:string, "UMLS_CUI:C0033951"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10132"^^xsd:string ; a owl:Class ; rdfs:label "psychosexual disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_10138 obo:IAO_0000115 "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E50.7"^^xsd:string, "ICD9CM:375.15"^^xsd:string, "MESH:D014985"^^xsd:string, "NCI:C34503"^^xsd:string, "SNOMEDCT_US_2021_03_01:193887002"^^xsd:string, "UMLS_CUI:C0043349"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival xerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "xerophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_10140 . obo:DOID_10139 oboInOwl:hasDbXref "ICD10CM:H11.10"^^xsd:string, "ICD9CM:372.50"^^xsd:string, "SNOMEDCT_US_2021_03_01:40787005"^^xsd:string, "UMLS_CUI:C0155160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10139"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_4251, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] ) ] . obo:DOID_10140 obo:IAO_0000115 "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04.12"^^xsd:string, "MESH:D015352"^^xsd:string, "NCI:C34553"^^xsd:string, "SNOMEDCT_US_2021_03_01:193980001"^^xsd:string, "UMLS_CUI:C0013238"^^xsd:string ; oboInOwl:hasExactSynonym "Tear film insufficiency"@en, "dry eye disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dry eye syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 ; skos:exactMatch "MESH:D015352"^^xsd:string . obo:DOID_10141 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10141"^^xsd:string ; a owl:Class ; rdfs:comment "doid/symp duplicate - moved to Symptom Ontology"^^xsd:string ; rdfs:label "obsolete asthenopia"^^xsd:string ; owl:deprecated true . obo:DOID_10142 oboInOwl:hasExactSynonym "venereal disease of peritoneum due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10142"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_10144 oboInOwl:hasExactSynonym "metastatic tumor to the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10144"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the thymus"^^xsd:string ; owl:deprecated true . obo:DOID_10145 oboInOwl:hasExactSynonym "metastatic tumor to the mediastinum"@en, "secondary malignant neoplasm of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastases to mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_10146 oboInOwl:hasDbXref "NCI:C6451"^^xsd:string, "UMLS_CUI:C1336745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_3277, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10149 obo:IAO_0000115 "A bone cancer that is manifested in the long bones of the lower limb."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C40.2"^^xsd:string, "ICD9CM:170.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:187959005"^^xsd:string, "UMLS_CUI:C0153517"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of long bones of leg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10149"^^xsd:string ; a owl:Class ; rdfs:label "long bones of lower limb cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_10150 obo:IAO_0000115 "A malignant neoplasm that is manifested in the lower limb."^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lower limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of lower limb"@en ; oboInOwl:id "DOID:10150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lower limb cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10151 obo:IAO_0000115 "A bone cancer that is located in the short bones of lower limbs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C40.3"^^xsd:string, "ICD9CM:170.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:94003005"^^xsd:string, "UMLS_CUI:C0153518"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of short bone of lower limb"@en, "malignant neoplasm of short bones of leg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10151"^^xsd:string ; a owl:Class ; rdfs:label "malignant neoplasm of short bones of lower limb"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_10152 obo:IAO_0000115 "An ileum cancer originating from Meckel's diverticulum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:152.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93890009"^^xsd:string, "UMLS_CUI:C0153429"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel diverticulum cancer"@en, "malignant neoplasm of Meckel's diverticulum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10152"^^xsd:string ; a owl:Class ; rdfs:label "Meckel's diverticulum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10153 . obo:DOID_10153 obo:IAO_0000115 "A small intestine cancer that is located_in the ileum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C17.2"^^xsd:string, "ICD9CM:152.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93832004"^^xsd:string, "UMLS_CUI:C0153428"^^xsd:string ; oboInOwl:hasExactSynonym "ileal neoplasm"@en, "malignant neoplasm of ileum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10153"^^xsd:string ; oboInOwl:inSubset doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "ileum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002116 ] ) ] . obo:DOID_10154 obo:IAO_0000115 "An intestinal cancer that is located_in the small intestine."^^xsd:string ; oboInOwl:hasDbXref "GARD:9385"^^xsd:string, "ICD10CM:C17"^^xsd:string, "ICD9CM:152.9"^^xsd:string, "NCI:C7523"^^xsd:string, "SNOMEDCT_US_2021_03_01:363509000"^^xsd:string, "UMLS_CUI:C0153425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10154"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10155 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_10155 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C26.0"^^xsd:string, "ICD9CM:159.0"^^xsd:string, "MESH:D007414"^^xsd:string, "NCI:C4572"^^xsd:string, "SNOMEDCT_US_2021_03_01:93838000"^^xsd:string, "UMLS_CUI:C0346627"^^xsd:string ; oboInOwl:hasExactSynonym "malignant intestinal tumors"@en, "malignant neoplasm of intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "intestinal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_10156 oboInOwl:hasDbXref "MESH:D007078"^^xsd:string, "NCI:C3130"^^xsd:string, "SNOMEDCT_US_2021_03_01:254576003"^^xsd:string, "UMLS_CUI:C0020876"^^xsd:string ; oboInOwl:hasExactSynonym "Ileal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ileal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_7505 . obo:DOID_10159 obo:IAO_0000115 "An ischemic bone disease that results_in necrosis located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10160"^^xsd:string, "DOID:10161"^^xsd:string, "DOID:10162"^^xsd:string, "DOID:10163"^^xsd:string, "DOID:10164"^^xsd:string, "DOID:4128"^^xsd:string, "DOID:8380"^^xsd:string, "DOID:86"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M87"^^xsd:string, "ICD10CM:M87.9"^^xsd:string, "ICD9CM:732.3"^^xsd:string, "ICD9CM:733.41"^^xsd:string, "ICD9CM:733.42"^^xsd:string, "ICD9CM:733.43"^^xsd:string, "ICD9CM:733.44"^^xsd:string, "MESH:D010020"^^xsd:string, "NCI:C34404"^^xsd:string, "NCI:C34841"^^xsd:string, "NCI:C34880"^^xsd:string, "NCI:C35226"^^xsd:string, "NCI:C35517"^^xsd:string, "SNOMEDCT_US_2021_03_01:156837008"^^xsd:string, "SNOMEDCT_US_2021_03_01:17926002"^^xsd:string, "SNOMEDCT_US_2021_03_01:240196003"^^xsd:string, "SNOMEDCT_US_2021_03_01:29281007"^^xsd:string, "SNOMEDCT_US_2021_03_01:43453000"^^xsd:string, "SNOMEDCT_US_2021_03_01:62100001"^^xsd:string, "SNOMEDCT_US_2021_03_01:83453001"^^xsd:string, "UMLS_CUI:C0003977"^^xsd:string, "UMLS_CUI:C0027543"^^xsd:string, "UMLS_CUI:C0029445"^^xsd:string, "UMLS_CUI:C0158442"^^xsd:string, "UMLS_CUI:C0158449"^^xsd:string, "UMLS_CUI:C0158450"^^xsd:string, "UMLS_CUI:C0158451"^^xsd:string, "UMLS_CUI:C0745048"^^xsd:string ; oboInOwl:hasExactSynonym "Avascular necrosis of bone"@en, "aseptic necrosis"@en, "bone necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10159"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteonecrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_1016 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1016"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_10173 oboInOwl:hasAlternativeId "DOID:6356"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculous abscess of spinal cord"@en, "tuberculoma of spinal cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10173"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous myelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10174 oboInOwl:hasDbXref "ICD10CM:H04.81"^^xsd:string, "ICD9CM:375.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:194001006"^^xsd:string, "UMLS_CUI:C0155253"^^xsd:string ; oboInOwl:hasExactSynonym "Granuloma of lacrimal passages"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10174"^^xsd:string ; a owl:Class ; rdfs:label "lacrimal passage granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_10175 oboInOwl:hasDbXref "ICD10CM:H35.81"^^xsd:string, "ICD10CM:H47.1"^^xsd:string, "ICD10CM:H47.11"^^xsd:string, "ICD9CM:362.83"^^xsd:string, "ICD9CM:377.0"^^xsd:string, "ICD9CM:377.01"^^xsd:string, "MESH:D010211"^^xsd:string, "NCI:C3307"^^xsd:string, "SNOMEDCT_US_2021_03_01:3170006"^^xsd:string, "SNOMEDCT_US_2021_03_01:423341008"^^xsd:string, "SNOMEDCT_US_2021_03_01:6141006"^^xsd:string, "UMLS_CUI:C0030353"^^xsd:string, "UMLS_CUI:C0155288"^^xsd:string, "UMLS_CUI:C0242420"^^xsd:string, "UMLS_CUI:C0919308"^^xsd:string ; oboInOwl:hasExactSynonym "papillitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic papillitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_10176 oboInOwl:hasDbXref "ICD10CM:H30.9"^^xsd:string, "MESH:D012173"^^xsd:string, "SNOMEDCT_US_2021_03_01:410471004"^^xsd:string, "UMLS_CUI:C0154874"^^xsd:string ; oboInOwl:hasExactSynonym "Focal retinitis and retinochoroiditis, juxtapapillary"@en, "Juxtapapillary focal retinitis AND retinochoroiditis"@en, "Papilloretinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10176"^^xsd:string ; a owl:Class ; rdfs:label "neuroretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_10177 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:65443008"^^xsd:string, "UMLS_CUI:C0155593"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10177"^^xsd:string ; a owl:Class ; rdfs:label "malignant hypertensive renal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1073, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_10182 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetic peripheral angiopathy"^^xsd:string ; owl:deprecated true . obo:DOID_10183 obo:IAO_0000115 "A lipoma that is located within the lumen of a bronchus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5063"^^xsd:string, "UMLS_CUI:C0852937"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endobronchial lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315, obo:DOID_3906, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10184 obo:IAO_0000115 "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4254"^^xsd:string, "SNOMEDCT_US_2021_03_01:404058008"^^xsd:string, "UMLS_CUI:C0334474"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10187 obo:IAO_0000115 "A lipoma located in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5701"^^xsd:string, "UMLS_CUI:C1333455"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10187"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_3315, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_10188 obo:IAO_0000115 "A skin benign neoplasm that derives_from fat cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10198"^^xsd:string, "DOID:3943"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:214.0"^^xsd:string, "NCI:C4616"^^xsd:string, "NCI:C5566"^^xsd:string, "SNOMEDCT_US_2021_03_01:255187008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93159009"^^xsd:string, "UMLS_CUI:C0153968"^^xsd:string, "UMLS_CUI:C0347394"^^xsd:string, "UMLS_CUI:C1333174"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Lipoma"@en, "Lipoma of skin"@en, "cutaneous lipomatous tumor"@en, "lipoma of face"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10188"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_1019 obo:IAO_0000115 "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1018"^^xsd:string, "DOID:1020"^^xsd:string, "DOID:10281"^^xsd:string, "DOID:10282"^^xsd:string, "DOID:10692"^^xsd:string, "DOID:10860"^^xsd:string, "DOID:1164"^^xsd:string, "DOID:11788"^^xsd:string, "DOID:11959"^^xsd:string, "DOID:12011"^^xsd:string, "DOID:13673"^^xsd:string, "DOID:13674"^^xsd:string, "DOID:13675"^^xsd:string, "DOID:13678"^^xsd:string, "DOID:13684"^^xsd:string, "DOID:13737"^^xsd:string, "DOID:14003"^^xsd:string, "DOID:14100"^^xsd:string, "DOID:14166"^^xsd:string, "DOID:2249"^^xsd:string, "DOID:2250"^^xsd:string, "DOID:5858"^^xsd:string, "DOID:9456"^^xsd:string ; oboInOwl:hasDbXref "GARD:7286"^^xsd:string, "ICD9CM:730.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:203181001"^^xsd:string, "UMLS_CUI:C0008707"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1019"^^xsd:string ; a owl:Class ; rdfs:label "osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_3342, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] . obo:DOID_10190 obo:IAO_0000115 "A lipoma located in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5750"^^xsd:string, "UMLS_CUI:C1333970"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Liver"@en, "hepatic lipoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315, obo:DOID_916, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10191 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10191"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal deletion syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_10192 obo:IAO_0000115 "A lipoma that is characterized by floret giant cells with overlapping nuclei."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008067"^^xsd:string, "NCI:C3703"^^xsd:string, "SNOMEDCT_US_2021_03_01:189783001"^^xsd:string, "UMLS_CUI:C0205823"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic Lipoma"@en, "Pleomorphic lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10193 obo:IAO_0000115 "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27530"^^xsd:string, "UMLS_CUI:C1333059"^^xsd:string ; oboInOwl:hasExactSynonym "classic type lipoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10194 obo:IAO_0000115 "A lipoma that is located in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5101"^^xsd:string, "UMLS_CUI:C1335744"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10194"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10195 obo:IAO_0000115 "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6644"^^xsd:string, "SNOMEDCT_US_2021_03_01:2460001000004103"^^xsd:string, "UMLS_CUI:C1335434"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of Pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleural lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_1532, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_10199 obo:IAO_0000115 "A breast benign neoplasm that is composed of lipocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4647"^^xsd:string, "SNOMEDCT_US_2021_03_01:276891009"^^xsd:string, "UMLS_CUI:C0349565"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10199"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10200 obo:IAO_0000115 "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6719"^^xsd:string, "SNOMEDCT_US_2021_03_01:448270009"^^xsd:string, "UMLS_CUI:C1332932"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chest wall lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] . obo:DOID_10201 obo:IAO_0000115 "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5835"^^xsd:string, "UMLS_CUI:C1333747"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_10202 oboInOwl:hasExactSynonym "Lipoma of intrathoracic organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10202"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipoma of intrathoracic organ"^^xsd:string ; owl:deprecated true . obo:DOID_10203 oboInOwl:hasDbXref "NCI:C4618"^^xsd:string, "SNOMEDCT_US_2021_03_01:188988008"^^xsd:string, "UMLS_CUI:C0347423"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of external auditory meatus"@en, "Lipoma of the External ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external auditory meatus lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080619, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001352 ] . obo:DOID_10204 oboInOwl:hasExactSynonym "Lipoma of intra-abdominal organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipoma of intra-abdominal organ"^^xsd:string ; owl:deprecated true . obo:DOID_10205 obo:IAO_0000115 "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35419"^^xsd:string, "SNOMEDCT_US_2021_03_01:188993006"^^xsd:string, "UMLS_CUI:C0347429"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of axilla"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "axillary lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10206 obo:IAO_0000115 "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:214.4"^^xsd:string, "NCI:C3606"^^xsd:string, "SNOMEDCT_US_2021_03_01:93162007"^^xsd:string, "UMLS_CUI:C0153972"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of spermatic cord"@en, "Spermatic Cord Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoma of spermatic cord"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_10207, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005352 ] . obo:DOID_10207 obo:IAO_0000115 "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6384"^^xsd:string, "UMLS_CUI:C1335348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paratesticular lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10208 obo:IAO_0000115 "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6503"^^xsd:string, "SNOMEDCT_US_2021_03_01:404065000"^^xsd:string, "UMLS_CUI:C1266131"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroid lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10209 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5854"^^xsd:string, "UMLS_CUI:C1333509"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_3315, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_10210 oboInOwl:hasAlternativeId "DOID:10212"^^xsd:string ; oboInOwl:hasExactSynonym "calculus of gallbladder and bile duct without cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder and bile duct without cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_10211 oboInOwl:hasDbXref "EFO:0004799"^^xsd:string, "ICD9CM:574.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:197397004"^^xsd:string, "UMLS_CUI:C0006739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10211"^^xsd:string ; a owl:Class ; rdfs:label "cholelithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_1022 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1021"^^xsd:string, "DOID:10490"^^xsd:string, "DOID:1813"^^xsd:string, "DOID:3573"^^xsd:string ; oboInOwl:hasDbXref "GARD:7397"^^xsd:string, "ICD10CM:A67.0"^^xsd:string, "ICD10CM:A67.1"^^xsd:string, "ICD10CM:A67.2"^^xsd:string, "ICD10CM:A67.3"^^xsd:string, "ICD10CM:A67.9"^^xsd:string, "ICD9CM:103"^^xsd:string, "ICD9CM:103.0"^^xsd:string, "ICD9CM:103.1"^^xsd:string, "ICD9CM:103.2"^^xsd:string, "ICD9CM:103.3"^^xsd:string, "MESH:D010874"^^xsd:string, "NCI:C85011"^^xsd:string, "SNOMEDCT_US_2021_03_01:22064009"^^xsd:string, "SNOMEDCT_US_2021_03_01:240685007"^^xsd:string, "SNOMEDCT_US_2021_03_01:4669001"^^xsd:string, "SNOMEDCT_US_2021_03_01:68202005"^^xsd:string, "SNOMEDCT_US_2021_03_01:73594001"^^xsd:string, "UMLS_CUI:C0031946"^^xsd:string, "UMLS_CUI:C0153241"^^xsd:string, "UMLS_CUI:C0153242"^^xsd:string, "UMLS_CUI:C0153243"^^xsd:string, "UMLS_CUI:C0153244"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pinta disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_10220 oboInOwl:hasAlternativeId "DOID:10221"^^xsd:string ; oboInOwl:hasExactSynonym "Failed mechanical induction of labor, antepartum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10220"^^xsd:string ; a owl:Class ; rdfs:label "obsolete failed induction"^^xsd:string ; owl:deprecated true . obo:DOID_10222 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10222"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polymyositis"^^xsd:string ; owl:deprecated true . obo:DOID_10223 obo:IAO_0000115 "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6263"^^xsd:string, "ICD10CM:M33"^^xsd:string, "ICD9CM:710.3"^^xsd:string, "MESH:D003882"^^xsd:string, "NCI:C26744"^^xsd:string, "SNOMEDCT_US_2021_03_01:38826005"^^xsd:string, "UMLS_CUI:C0011633"^^xsd:string ; oboInOwl:hasExactSynonym "Polymyositis with skin involvement"@en, "dermatopolymyositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Amyopathic dermatomyositis"^^xsd:string, "Amyopathic dermatomyositis"@en ; oboInOwl:id "DOID:10223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C538250 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "dermatomyositis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_633, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_633 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_10226 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10226"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode manic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10229 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10229"^^xsd:string ; a owl:Class ; rdfs:label "obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_1023 obo:IAO_0000115 "A leprosy that results in small numerous red irregularly shaped plaques."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.3"^^xsd:string, "ICD9CM:030.3"^^xsd:string, "MESH:D015439"^^xsd:string, "SNOMEDCT_US_2021_03_01:50521002"^^xsd:string, "UMLS_CUI:C0023346"^^xsd:string ; oboInOwl:hasExactSynonym "Borderline leprosy"@en, "Borderline or dimorphous leprosy"@en, "Midborderline leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1023"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "borderline leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_10230 oboInOwl:hasDbXref "ICD10CM:I70.0"^^xsd:string, "ICD9CM:440.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:81817003"^^xsd:string, "UMLS_CUI:C0155733"^^xsd:string ; oboInOwl:hasExactSynonym "Aortic atherosclerosis"@en, "Atherosclerosis of aorta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10230"^^xsd:string ; a owl:Class ; rdfs:label "aortic atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1936 . obo:DOID_10233 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum with pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10233"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10234 oboInOwl:hasDbXref "ICD9CM:115.93"^^xsd:string, "SNOMEDCT_US_2021_03_01:187059008"^^xsd:string, "UMLS_CUI:C0153279"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with pericarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10234"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_10235 oboInOwl:hasDbXref "GARD:5963"^^xsd:string, "ICD10CM:H50.61"^^xsd:string, "ICD9CM:378.61"^^xsd:string, "MESH:D015835"^^xsd:string, "SNOMEDCT_US_2021_03_01:35929003"^^xsd:string, "UMLS_CUI:C0155339"^^xsd:string ; oboInOwl:hasExactSynonym "Brown tendon sheath syndrome"@en, "Brown's (tendon) sheath syndrome"@en, "Brown's sheath syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10235"^^xsd:string ; a owl:Class ; rdfs:label "Brown's tendon sheath syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9306 . obo:DOID_10236 oboInOwl:hasDbXref "ICD10CM:F65.2"^^xsd:string, "ICD9CM:302.4"^^xsd:string, "MESH:D005084"^^xsd:string, "NCI:C94352"^^xsd:string, "SNOMEDCT_US_2021_03_01:192514003"^^xsd:string, "UMLS_CUI:C0015269"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10236"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exhibitionism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_10237 obo:IAO_0000115 "A malignant neoplasm that is manifested in the pelvic region."^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of pelvis (disorder)"@en, "pelvis neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10237"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pelvic cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10238 oboInOwl:hasExactSynonym "malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)"@en, "malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)"@en, "malignant neoplasm of rectum, rectosigmoid junction, and anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of rectum, rectosigmoid junction and anus"^^xsd:string ; owl:deprecated true . obo:DOID_10239 oboInOwl:hasExactSynonym "Ca pelvic bones/sacrum/coccyx"@en, "Ca pelvic bones/sacrum/coccyx (disorder)"@en, "malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)"@en, "malignant neoplasm of pelvic bones, sacrum, and coccyx"@en, "malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of pelvic bones, sacrum and coccyx"^^xsd:string ; owl:deprecated true . obo:DOID_1024 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001054"^^xsd:string, "GARD:6886"^^xsd:string, "ICD10CM:A30"^^xsd:string, "ICD9CM:030"^^xsd:string, "MESH:D007918"^^xsd:string, "NCI:C84824"^^xsd:string, "OMIM:607572"^^xsd:string, "OMIM:609888"^^xsd:string, "OMIM:613407"^^xsd:string, "ORDO:548"^^xsd:string, "SNOMEDCT_US_2021_03_01:154298007"^^xsd:string, "UMLS_CUI:C0023343"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1024"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1769 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000010 obo:UBERON_0000473 obo:UBERON_0000970 obo:UBERON_0001557 ) ] ] . obo:DOID_10240 oboInOwl:hasExactSynonym "malignant neoplasm of pelvis NOS (disorder)"@en, "malignant neoplasm of pelvis, NOS"@en, "malignant tumor of pelvis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of pelvis"^^xsd:string ; owl:deprecated true . obo:DOID_10241 obo:IAO_0000115 "A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12242"^^xsd:string, "DOID:12243"^^xsd:string ; oboInOwl:hasDbXref "GARD:7756"^^xsd:string, "ICD10CM:D56"^^xsd:string, "ICD9CM:282.4"^^xsd:string, "MESH:D013789"^^xsd:string, "NCI:C35069"^^xsd:string, "SNOMEDCT_US_2021_03_01:191192008"^^xsd:string, "UMLS_CUI:C0039730"^^xsd:string ; oboInOwl:hasExactSynonym "Sickle-cell thalassemia with crisis"@en, "Sickle-cell thalassemia without crisis"@en, "thalassemia Hb-S disease with crisis"@en, "thalassemia Hb-S disease without crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10242 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050023"^^xsd:string ; oboInOwl:hasDbXref "GARD:2092"^^xsd:string, "ICD10CM:A77.4"^^xsd:string, "ICD9CM:082.4"^^xsd:string, "MESH:D016873"^^xsd:string, "SNOMEDCT_US_2021_03_01:77361002"^^xsd:string, "UMLS_CUI:C0085399"^^xsd:string ; oboInOwl:hasExactSynonym "human ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10242"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "ehrlichiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_945 obo:NCBITaxon_948 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] ; skos:exactMatch "MESH:D016873"^^xsd:string . obo:DOID_10245 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete delayed separation of umbilical cord"^^xsd:string ; owl:deprecated true . obo:DOID_10247 obo:IAO_0000115 "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:511.8"^^xsd:string, "UMLS_CUI:C0029799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10247"^^xsd:string ; a owl:Class ; rdfs:label "pleurisy"^^xsd:string ; rdfs:subClassOf obo:DOID_1532 . obo:DOID_1025 obo:IAO_0000115 "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.1"^^xsd:string, "ICD9CM:030.1"^^xsd:string, "MESH:D015441"^^xsd:string, "SNOMEDCT_US_2021_03_01:70143003"^^xsd:string, "UMLS_CUI:C0023351"^^xsd:string ; oboInOwl:hasExactSynonym "Smooth leprosy"@en, "Tuberculoid leprosy"@en, "type T leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1025"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculoid leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_10250 obo:IAO_0000115 "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A84.89"^^xsd:string, "ICD9CM:063.1"^^xsd:string, "MESH:D008146"^^xsd:string, "SNOMEDCT_US_2021_03_01:59350003"^^xsd:string, "UMLS_CUI:C0024025"^^xsd:string ; oboInOwl:hasExactSynonym "Louping ill"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10250"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "louping ill"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11086 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34613 ] . obo:DOID_10254 oboInOwl:hasDbXref "ICD10CM:K82.4"^^xsd:string, "ICD9CM:575.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:61565001"^^xsd:string, "UMLS_CUI:C0152456"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesterolosis of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10254"^^xsd:string ; a owl:Class ; rdfs:label "strawberry gallbladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_10255 oboInOwl:hasExactSynonym "Conjunctival degenerations and deposits (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete conjunctival degenerations and deposits"^^xsd:string ; owl:deprecated true . obo:DOID_10256 oboInOwl:hasExactSynonym "vitamin A deficiency with conjunctival xerosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with conjunctival xerosis"^^xsd:string ; owl:deprecated true . obo:DOID_10257 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_10261 oboInOwl:hasDbXref "ICD10CM:H92.1"^^xsd:string, "ICD9CM:388.6"^^xsd:string, "NCI:C35199"^^xsd:string, "SNOMEDCT_US_2021_03_01:300132001"^^xsd:string, "UMLS_CUI:C0155540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "discharging ear"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_10263 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps hepatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_10264 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face."^^xsd:string ; oboInOwl:hasDbXref "GARD:7116"^^xsd:string, "ICD10CM:B26"^^xsd:string, "ICD9CM:072"^^xsd:string, "MESH:D009107"^^xsd:string, "NCI:C29888"^^xsd:string, "SNOMEDCT_US_2021_03_01:154352008"^^xsd:string, "UMLS_CUI:C0026780"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10264"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mumps"^^xsd:string ; rdfs:subClassOf obo:DOID_10854, obo:DOID_10883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2560602 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000011 ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] ) ] . obo:DOID_10265 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hairy cell leukemia of spleen"^^xsd:string ; owl:deprecated true . obo:DOID_10266 oboInOwl:hasDbXref "ICD9CM:410.7"^^xsd:string, "UMLS_CUI:C0155655"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10266"^^xsd:string ; a owl:Class ; rdfs:label "subendocardial infarction acute myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10272 oboInOwl:hasDbXref "ICD10CM:I44.60"^^xsd:string, "ICD9CM:426.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:266245009"^^xsd:string, "UMLS_CUI:C0155702"^^xsd:string ; oboInOwl:hasExactSynonym "Left bundle branch block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10272"^^xsd:string ; a owl:Class ; rdfs:label "left bundle branch hemiblock"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 . obo:DOID_10273 obo:IAO_0000115 "A cardiovascular system disease that involves the heart's electrical conduction system."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:426.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:195053008"^^xsd:string, "UMLS_CUI:C0029630"^^xsd:string ; oboInOwl:hasExactSynonym "heart rhythm disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10273"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "heart conduction disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_10274 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_10277 obo:IAO_0000115 "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infection due to Pseudomonas (disorder)"@en, "intestinal infectious disease due to pseudomonas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10277"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10278 oboInOwl:hasExactSynonym "Vasa previa complicating labor and delivery, unspecified as to episode of care"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10278"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa complicating labor and delivery"^^xsd:string ; owl:deprecated true . obo:DOID_10279 oboInOwl:hasExactSynonym "Vasa praevia"@en, "Vasa previa (disorder)"@en, "Vasa previa NOS (disorder)"@en, "Vasa previa complicating labor and delivery, antepartum"@en, "Vasa previa unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10279"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa"^^xsd:string ; owl:deprecated true . obo:DOID_10280 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10280"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa complicating labor and delivery, delivered"^^xsd:string ; owl:deprecated true . obo:DOID_10283 obo:IAO_0000115 "A male reproductive organ cancer that is located_in the prostate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:514"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C61"^^xsd:string, "ICD9CM:185"^^xsd:string, "KEGG:05215"^^xsd:string, "MESH:D011471"^^xsd:string, "NCI:C3343"^^xsd:string, "NCI:C7378"^^xsd:string, "OMIM:176807"^^xsd:string, "OMIM:300147"^^xsd:string, "OMIM:300704"^^xsd:string, "OMIM:601518"^^xsd:string, "OMIM:602759"^^xsd:string, "OMIM:608656"^^xsd:string, "OMIM:608658"^^xsd:string, "OMIM:609299"^^xsd:string, "OMIM:609558"^^xsd:string, "OMIM:610321"^^xsd:string, "OMIM:610997"^^xsd:string, "OMIM:611100"^^xsd:string, "OMIM:611868"^^xsd:string, "OMIM:611928"^^xsd:string, "OMIM:611955"^^xsd:string, "OMIM:611958"^^xsd:string, "OMIM:611959"^^xsd:string, "ORDO:1331"^^xsd:string, "SNOMEDCT_US_2021_03_01:126906006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93974005"^^xsd:string, "UMLS_CUI:C0033578"^^xsd:string, "UMLS_CUI:C0376358"^^xsd:string ; oboInOwl:hasExactSynonym "NGP - new growth of prostate"@en, "hereditary prostate cancer"@en, "malignant tumor of the prostate"@en, "prostate cancer, familial"@en, "prostate neoplasm"@en, "prostatic cancer"@en, "prostatic neoplasm"@en, "tumor of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10283"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "prostate cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3856, obo:DOID_47 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] ) ] . obo:DOID_10286 obo:IAO_0000115 "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001663"^^xsd:string, "KEGG:05215"^^xsd:string, "NCI:C4863"^^xsd:string, "SNOMEDCT_US_2021_03_01:254900004"^^xsd:string, "UMLS_CUI:C0600139"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of prostate"@en, "carcinoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10286"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_10287 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5536"^^xsd:string, "SNOMEDCT_US_2021_03_01:399590005"^^xsd:string, "UMLS_CUI:C1302530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10286, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_10288 oboInOwl:hasExactSynonym "metastatic neoplasm to the prostate"@en, "secondary malignant neoplasm of prostate (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10288"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to prostate"^^xsd:string ; owl:deprecated true . obo:DOID_10289 oboInOwl:hasDbXref "MESH:C549759"^^xsd:string, "NCI:C5531"^^xsd:string, "UMLS_CUI:C1334615"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Phyllodes neoplasm of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate malignant phyllodes tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10283 . obo:DOID_1029 oboInOwl:hasDbXref "GARD:6422"^^xsd:string, "ICD10CM:G72.3"^^xsd:string, "MESH:D010245"^^xsd:string, "NCI:C84709"^^xsd:string, "SNOMEDCT_US_2021_03_01:193241004"^^xsd:string, "UMLS_CUI:C0030443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial periodic paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_10290 oboInOwl:hasDbXref "NCI:C5533"^^xsd:string, "UMLS_CUI:C1335512"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the prostate"@en, "lymphoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10290"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10283, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10293 oboInOwl:hasDbXref "ICD10CM:H50.01"^^xsd:string, "ICD9CM:378.01"^^xsd:string, "MESH:D004948"^^xsd:string, "SNOMEDCT_US_2021_03_01:194075001"^^xsd:string, "UMLS_CUI:C0152204"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10293"^^xsd:string ; a owl:Class ; rdfs:label "monocular esotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9840 . obo:DOID_10294 oboInOwl:hasExactSynonym "Intermittent esotropia, monocular"@en, "Intermittent monocular esotropia (disorder)"@en, "Monocular intermittent esotropia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10294"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent monocular esotropia"^^xsd:string ; owl:deprecated true . obo:DOID_10295 oboInOwl:hasExactSynonym "Monocular esotropia with A pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular esotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_10296 oboInOwl:hasExactSynonym "Monocular esotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular esotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_10300 oboInOwl:hasDbXref "ICD10CM:I73.0"^^xsd:string, "MESH:D011928"^^xsd:string, "OMIM:179600"^^xsd:string, "SNOMEDCT_US_2021_03_01:195295006"^^xsd:string, "UMLS_CUI:C0034734"^^xsd:string ; oboInOwl:hasExactSynonym "Raynaud's disease"@en, "Raynaud's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10300"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Raynaud disease"^^xsd:string ; rdfs:subClassOf obo:DOID_341 ; skos:exactMatch "MESH:D011928"^^xsd:string . obo:DOID_10301 obo:IAO_0000115 "A parotid disease characterized by the inflammation of one or both parotid glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K11.2"^^xsd:string, "MESH:D010309"^^xsd:string, "NCI:C114281"^^xsd:string, "SNOMEDCT_US_2021_03_01:196481002"^^xsd:string, "UMLS_CUI:C0030583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10301"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parotitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10302, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; skos:exactMatch "MESH:D010309"^^xsd:string . obo:DOID_10302 oboInOwl:hasDbXref "MESH:D010305"^^xsd:string, "UMLS_CUI:C0030579"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10302"^^xsd:string ; a owl:Class ; rdfs:label "parotid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001831 ] ) ] . obo:DOID_10303 oboInOwl:hasDbXref "GARD:7638"^^xsd:string, "ICD10CM:K11.2"^^xsd:string, "ICD9CM:527.2"^^xsd:string, "MESH:D012793"^^xsd:string, "NCI:C26882"^^xsd:string, "SNOMEDCT_US_2021_03_01:42982001"^^xsd:string, "UMLS_CUI:C0037023"^^xsd:string ; oboInOwl:hasExactSynonym "Sialoadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10303"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sialadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10854, obo:DOID_1602 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1602 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_2005036 ] ) ] . obo:DOID_10304 obo:IAO_0000115 "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person."^^xsd:string ; oboInOwl:hasExactSynonym "Rubulavirus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10304"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10305 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps orchitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10305"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus orchitis"^^xsd:string ; owl:deprecated true . obo:DOID_10307 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps polyneuropathy (disorder)"@en, "Polyneuropathy in mumps (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus polyneuritis"^^xsd:string ; owl:deprecated true . obo:DOID_10309 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10310 obo:IAO_0000115 "A meningitis that has_material_basis_in a viral infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A87"^^xsd:string, "ICD9CM:047.9"^^xsd:string, "MESH:D008587"^^xsd:string, "NCI:C118298"^^xsd:string, "SNOMEDCT_US_2021_03_01:154321007"^^xsd:string, "UMLS_CUI:C0025297"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_10311 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps encephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10311"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_10312 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps pancreatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus pancreatitis"^^xsd:string ; owl:deprecated true . obo:DOID_10314 obo:IAO_0000115 "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14058"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I33.9"^^xsd:string, "ICD9CM:421.9"^^xsd:string, "MESH:D004696"^^xsd:string, "NCI:C34582"^^xsd:string, "NCI:C35432"^^xsd:string, "SNOMEDCT_US_2021_03_01:56819008"^^xsd:string, "SNOMEDCT_US_2021_03_01:91357005"^^xsd:string, "UMLS_CUI:C0014118"^^xsd:string, "UMLS_CUI:C0375268"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10314"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050825, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10316 obo:IAO_0000115 "An interstitial lung disease that is caused by the inhalation of dust."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J64"^^xsd:string, "ICD9CM:505"^^xsd:string, "MESH:D011009"^^xsd:string, "NCI:C26861"^^xsd:string, "SNOMEDCT_US_2021_03_01:196004000"^^xsd:string, "UMLS_CUI:C0032273"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10316"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0006530 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_10319 oboInOwl:hasDbXref "NCI:C27559"^^xsd:string, "SNOMEDCT_US_2021_03_01:233759002"^^xsd:string, "UMLS_CUI:C0340184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed mineral dust pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10320 obo:IAO_0000115 "A pneumoconiosis caused by inhalation and retention of asbestos fibers."^^xsd:string ; oboInOwl:hasDbXref "GARD:5852"^^xsd:string, "ICD10CM:J61"^^xsd:string, "ICD9CM:501"^^xsd:string, "MESH:D001195"^^xsd:string, "NCI:C84573"^^xsd:string, "SNOMEDCT_US_2021_03_01:266400008"^^xsd:string, "UMLS_CUI:C0003949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "asbestosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10321 oboInOwl:hasDbXref "GARD:8371"^^xsd:string, "MESH:C537080"^^xsd:string, "NCI:C34410"^^xsd:string, "SNOMEDCT_US_2021_03_01:50076003"^^xsd:string, "UMLS_CUI:C0340177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10321"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "baritosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10322 obo:IAO_0000115 "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J63.2"^^xsd:string, "MESH:D001607"^^xsd:string, "SNOMEDCT_US_2021_03_01:8247009"^^xsd:string, "UMLS_CUI:C0005138"^^xsd:string ; oboInOwl:hasExactSynonym "beryllium poisoning"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10322"^^xsd:string ; a owl:Class ; rdfs:label "berylliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_10316, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] . obo:DOID_10323 oboInOwl:hasDbXref "GARD:5976"^^xsd:string, "ICD10CM:J66.0"^^xsd:string, "MESH:D002095"^^xsd:string, "NCI:C84605"^^xsd:string, "SNOMEDCT_US_2021_03_01:155589004"^^xsd:string, "UMLS_CUI:C0006542"^^xsd:string ; oboInOwl:hasExactSynonym "Flax-dressers' disease"@en, "Stripper's asthma"@en, "cotton mill fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10323"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "byssinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10324 oboInOwl:hasDbXref "ICD10CM:J60"^^xsd:string, "MESH:D000874"^^xsd:string, "NCI:C34389"^^xsd:string, "SNOMEDCT_US_2021_03_01:33548005"^^xsd:string, "UMLS_CUI:C0003164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anthracosilicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10325 obo:IAO_0000115 "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14007"^^xsd:string ; oboInOwl:hasDbXref "GARD:7647"^^xsd:string, "ICD10CM:J62.8"^^xsd:string, "ICD9CM:502"^^xsd:string, "MESH:D012829"^^xsd:string, "NCI:C3369"^^xsd:string, "SNOMEDCT_US_2021_03_01:155590008"^^xsd:string, "UMLS_CUI:C0037116"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumoconiosis due to silicates"@en, "Silica pneumoconiosis"@en, "Silicotic fibrosis of lung"@en, "silicotuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10325"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "silicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10326 obo:IAO_0000115 "A pneumoconiosis that results_in humans that also have rheumatoid arthritis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002205"^^xsd:string, "SNOMEDCT_US_2021_03_01:111280008"^^xsd:string, "UMLS_CUI:C0006915"^^xsd:string ; oboInOwl:hasExactSynonym "Caplan syndrome"@en, "Caplan's disease"@en, "Caplans syndrome"@en, "Rheumatoid pneumoconiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10326"^^xsd:string ; a owl:Class ; rdfs:label "Caplan's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10327 oboInOwl:hasDbXref "ICD10CM:J60"^^xsd:string, "ICD9CM:500"^^xsd:string, "MESH:D055008"^^xsd:string, "NCI:C34390"^^xsd:string, "SNOMEDCT_US_2021_03_01:29422001"^^xsd:string, "UMLS_CUI:C0003165"^^xsd:string ; oboInOwl:hasExactSynonym "Coal Miner's Pneumoconiosis"@en, "Coal workers' lung"@en, "Coal workers' pneumoconiosis"@en, "Melanoedema"@en, "black lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anthracosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10328 oboInOwl:hasDbXref "GARD:7645"^^xsd:string, "ICD10CM:J63.4"^^xsd:string, "MESH:D012806"^^xsd:string, "SNOMEDCT_US_2021_03_01:155591007"^^xsd:string, "UMLS_CUI:C0037061"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary siderosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10328"^^xsd:string ; a owl:Class ; rdfs:label "siderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10329 oboInOwl:hasDbXref "ICD10CM:J62.0"^^xsd:string, "NCI:C27026"^^xsd:string, "SNOMEDCT_US_2021_03_01:73144008"^^xsd:string, "UMLS_CUI:C0238377"^^xsd:string ; oboInOwl:hasExactSynonym "Talc Pneumoconiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumoconiosis due to talc"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10330 oboInOwl:hasDbXref "NCI:C35397"^^xsd:string, "SNOMEDCT_US_2021_03_01:1259003"^^xsd:string, "UMLS_CUI:C0340186"^^xsd:string ; oboInOwl:hasExactSynonym "Schistosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10330"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "slate pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10331 oboInOwl:hasDbXref "GARD:8355"^^xsd:string, "NCI:C35315"^^xsd:string, "SNOMEDCT_US_2021_03_01:36696005"^^xsd:string, "UMLS_CUI:C0264435"^^xsd:string ; oboInOwl:hasExactSynonym "Kaolinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kaolin pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10332 oboInOwl:hasExactSynonym "disorder of optic chiasm associated with vascular disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10332"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm due to vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10334 oboInOwl:hasAlternativeId "DOID:1295"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital abnormality of skull and face bones (disorder)"@en, "Congenital anomalies of skull and face bones"@en, "Skull and face &/or face bone anomalies"@en, "Skull or face bone anomaly NOS"@en, "Skull or face bone anomaly NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete craniofacial abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_10337 obo:IAO_0000115 "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H47.23"^^xsd:string, "ICD9CM:377.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:1207009"^^xsd:string, "UMLS_CUI:C0271342"^^xsd:string ; oboInOwl:hasExactSynonym "Glaucomatous atrophy [cupping] of optic disc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10337"^^xsd:string ; a owl:Class ; rdfs:label "glaucomatous atrophy of optic disc"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10338 oboInOwl:hasExactSynonym "Unspecified schizophrenia, subchronic state"@en, "subchronic Schizophrenia"@en, "subchronic schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10339 oboInOwl:hasExactSynonym "simple schizophrenia"@en, "simple schizophrenia (disorder)"@en, "simple schizophrenia NOS (disorder)"@en, "simple type Schizophrenia"@en, "simple type schizophrenia"@en, "simple type schizophrenia, unspecified state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10339"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizophrenia simplex"^^xsd:string ; owl:deprecated true . obo:DOID_10340 oboInOwl:hasExactSynonym "Residual schizophrenia, subchronic state"@en, "subchronic residual schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual subchronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10341 oboInOwl:hasDbXref "ICD10CM:G03.1"^^xsd:string, "ICD9CM:322.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:21664006"^^xsd:string, "UMLS_CUI:C0154653"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10341"^^xsd:string ; a owl:Class ; rdfs:label "chronic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471 . obo:DOID_10342 oboInOwl:hasExactSynonym "Latent schizophrenia, subchronic state"@en, "Latent subchronic Schizophrenia"@en, "subchronic latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10342"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10343 oboInOwl:hasExactSynonym "Latent Schizophrenia"@en, "Latent schizophrenia"@en, "Latent schizophrenia (disorder)"@en, "Latent schizophrenia NOS (disorder)"@en, "Latent schizophrenia, unspecified state"@en, "Latent schizophrenic reaction"@en, "Unspecified latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10343"^^xsd:string ; a owl:Class ; rdfs:label "obsolete latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10348 oboInOwl:hasDbXref "GARD:5932"^^xsd:string, "ICD10CM:H02.52"^^xsd:string, "ICD9CM:374.46"^^xsd:string, "MESH:D016569"^^xsd:string, "UMLS_CUI:C0005744"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10348"^^xsd:string ; a owl:Class ; rdfs:label "blepharophimosis"^^xsd:string ; rdfs:subClassOf obo:DOID_530 ; skos:exactMatch "MESH:D016569"^^xsd:string . obo:DOID_10349 obo:IAO_0000115 "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.0"^^xsd:string, "ICD9CM:610.0"^^xsd:string, "NCI:C3378"^^xsd:string, "SNOMEDCT_US_2021_03_01:270538000"^^xsd:string, "UMLS_CUI:C0037619"^^xsd:string ; oboInOwl:hasExactSynonym "Solitary Cyst of the breast"@en, "Solitary cyst of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10349"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "solitary cyst of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_10350 . obo:DOID_1035 obo:IAO_0000115 "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C94.8"^^xsd:string, "NCI:C8647"^^xsd:string, "SNOMEDCT_US_2021_03_01:128833001"^^xsd:string, "UMLS_CUI:C1292777"^^xsd:string ; oboInOwl:hasExactSynonym "aggressive NK-cell leukaemia"@en, "large granular Lymphocyte Leukemia, NK-cell type"@en, "natural killer cell leukaemia"@en, "natural killer cell leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1035"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aggressive NK-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1240 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000623 ] ) ] . obo:DOID_10350 obo:IAO_0000115 "A breast benign neoplasm that is characterized by a fluid-filled sac."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.0"^^xsd:string, "MESH:D047688"^^xsd:string, "NCI:C5315"^^xsd:string, "SNOMEDCT_US_2021_03_01:56726003"^^xsd:string, "UMLS_CUI:C0006144"^^xsd:string ; oboInOwl:hasExactSynonym "Cyst of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_10351 oboInOwl:hasExactSynonym "Comedomastitis"@en, "Mammary duct ectasia (disorder)"@en, "Mammary duct ectasia [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10351"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mammary duct ectasia"^^xsd:string ; owl:deprecated true . obo:DOID_10352 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.2"^^xsd:string, "ICD9CM:610.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:270893004"^^xsd:string, "UMLS_CUI:C1305875"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroadenosis - breast"@en, "Fibroadenosis of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10352"^^xsd:string ; a owl:Class ; rdfs:label "breast fibroadenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_10353 obo:IAO_0000115 "A non-proliferative fibrocystic change of the breast that contains scar tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.3"^^xsd:string, "ICD9CM:610.3"^^xsd:string, "NCI:C3660"^^xsd:string, "SNOMEDCT_US_2021_03_01:29070004"^^xsd:string, "UMLS_CUI:C0156318"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosclerosis of breast"@en, "Fibrosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10353"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrosclerosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_5997 . obo:DOID_10354 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in fibrous tissue and is characterized by the development of cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.1"^^xsd:string, "ICD9CM:610.1"^^xsd:string, "MESH:D005348"^^xsd:string, "NCI:C3039"^^xsd:string, "SNOMEDCT_US_2021_03_01:198091009"^^xsd:string, "UMLS_CUI:C0016034"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse cystic mastopathy"@en, "Fibrocystic disease of breast"@en, "breast Fibrocystic Change"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10354"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast fibrocystic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1036 obo:IAO_0000115 "A leukemia that develops slowly."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "CLL"@en, "CML"@en, "adult chronic leukemia"@en ; oboInOwl:id "DOID:1036"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_10361 oboInOwl:hasDbXref "ICD9CM:322.1"^^xsd:string, "NCI:C128374"^^xsd:string, "SNOMEDCT_US_2021_03_01:25671008"^^xsd:string, "UMLS_CUI:C0154652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10341 . obo:DOID_10366 oboInOwl:hasDbXref "ICD10CM:C63.0"^^xsd:string, "ICD9CM:187.5"^^xsd:string, "NCI:C3558"^^xsd:string, "SNOMEDCT_US_2021_03_01:363452003"^^xsd:string, "UMLS_CUI:C0153602"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Epididymal tumor"@en, "malignant neoplasm of epididymis"@en, "malignant tumor of epididymis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10366"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0080373, obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] ) ] . obo:DOID_10367 oboInOwl:hasExactSynonym "metastatic neoplasm to the Epididymis"@en, "secondary malignant neoplasm of epididymis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10367"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the epididymis"^^xsd:string ; owl:deprecated true . obo:DOID_10368 obo:IAO_0000115 "An epididymis cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39957"^^xsd:string, "UMLS_CUI:C1510784"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the epididymis"@en ; oboInOwl:id "DOID:10368"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymis adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10366, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_1037 obo:IAO_0000115 "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10747"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C91"^^xsd:string, "ICD9CM:204"^^xsd:string, "MESH:D007945"^^xsd:string, "NCI:C7539"^^xsd:string, "SNOMEDCT_US_2021_03_01:93170002"^^xsd:string, "UMLS_CUI:C0023448"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoblastic leukaemia"@en, "lymphoblastic leukemia"@en, "lymphocytic leukaemia"@en, "lymphoid leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1037"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_10371 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:7913"^^xsd:string, "ICD10CM:A66"^^xsd:string, "ICD9CM:102"^^xsd:string, "MESH:D015001"^^xsd:string, "NCI:C41353"^^xsd:string, "SNOMEDCT_US_2021_03_01:266213004"^^xsd:string, "UMLS_CUI:C0043388"^^xsd:string ; oboInOwl:hasExactSynonym "Bouba"@en, "frambesia"@en, "frambesia tropica"@en, "frambosie"@en, "polypapilloma tropicum"@en, "thymosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10371"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0001474 obo:UBERON_0004905 ) ] ] . obo:DOID_10375 oboInOwl:hasDbXref "ICD10CM:H53.03"^^xsd:string, "ICD9CM:368.01"^^xsd:string, "MESH:D000550"^^xsd:string, "SNOMEDCT_US_2021_03_01:35600002"^^xsd:string, "UMLS_CUI:C0750903"^^xsd:string ; oboInOwl:hasExactSynonym "Strabismic amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10375"^^xsd:string ; a owl:Class ; rdfs:label "suppression amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_10376 obo:IAO_0000115 "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.00"^^xsd:string, "ICD9CM:368.00"^^xsd:string, "MESH:D000550"^^xsd:string, "NCI:C118764"^^xsd:string, "SNOMEDCT_US_2021_03_01:155145007"^^xsd:string, "UMLS_CUI:C0002418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; skos:exactMatch "MESH:D000550"^^xsd:string . obo:DOID_10377 oboInOwl:hasDbXref "ICD10CM:H53.02"^^xsd:string, "ICD9CM:368.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:90927000"^^xsd:string, "UMLS_CUI:C0152190"^^xsd:string ; oboInOwl:hasExactSynonym "Refractive amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10377"^^xsd:string ; a owl:Class ; rdfs:label "ametropic amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_10378 oboInOwl:hasDbXref "ICD10CM:H53.01"^^xsd:string, "ICD9CM:368.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:193638002"^^xsd:string, "UMLS_CUI:C0152189"^^xsd:string ; oboInOwl:hasExactSynonym "Deprivation amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10378"^^xsd:string ; a owl:Class ; rdfs:label "disuse amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_1038 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mature T-cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10380 oboInOwl:hasAlternativeId "DOID:10379"^^xsd:string, "DOID:14438"^^xsd:string ; oboInOwl:hasExactSynonym "Precipitate labor, antepartum"@en, "Precipitate labor, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10380"^^xsd:string ; a owl:Class ; rdfs:label "obsolete precipitate labor"^^xsd:string ; owl:deprecated true . obo:DOID_10381 oboInOwl:hasExactSynonym "Staphylococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10381"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10383 oboInOwl:hasDbXref "ICD10CM:G54.5"^^xsd:string, "ICD9CM:353.5"^^xsd:string, "MESH:D020968"^^xsd:string, "OMIM:162100"^^xsd:string, "SNOMEDCT_US_2021_03_01:3548001"^^xsd:string, "UMLS_CUI:C1510479"^^xsd:string ; oboInOwl:hasExactSynonym "neuralgic amyotrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10383"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "amyotrophic neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_3690 . obo:DOID_10384 oboInOwl:hasExactSynonym "Papilledema associated with decreased ocular pressure (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10384"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papilledema associated with decreased ocular pressure"^^xsd:string ; owl:deprecated true . obo:DOID_1039 oboInOwl:hasDbXref "MESH:D015463"^^xsd:string, "NCI:C3181"^^xsd:string, "SNOMEDCT_US_2021_03_01:110006004"^^xsd:string, "UMLS_CUI:C0023486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1039"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prolymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1040 . obo:DOID_10393 oboInOwl:hasDbXref "ICD10CM:M89.4"^^xsd:string, "ICD9CM:731.2"^^xsd:string, "MESH:D010005"^^xsd:string, "SNOMEDCT_US_2021_03_01:46922002"^^xsd:string, "UMLS_CUI:C0029412"^^xsd:string ; oboInOwl:hasExactSynonym "Bamberger-Marie disease"@en, "HPOA - hypertrophic pulmonary osteoarthropathy"@en, "Marie Bamberger disease"@en, "hypertrophic pulmonary osteoarthropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10393"^^xsd:string ; a owl:Class ; rdfs:label "secondary hypertrophic osteoarthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_10398 obo:IAO_0000115 "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10401"^^xsd:string, "DOID:10402"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A20.2"^^xsd:string, "ICD9CM:020.3"^^xsd:string, "ICD9CM:020.4"^^xsd:string, "ICD9CM:020.5"^^xsd:string, "MESH:D010930"^^xsd:string, "SNOMEDCT_US_2021_03_01:35339003"^^xsd:string, "SNOMEDCT_US_2021_03_01:38976008"^^xsd:string, "SNOMEDCT_US_2021_03_01:67525007"^^xsd:string, "UMLS_CUI:C0152937"^^xsd:string, "UMLS_CUI:C0152938"^^xsd:string, "UMLS_CUI:C0524688"^^xsd:string ; oboInOwl:hasExactSynonym "primary pneumonic plague"@en, "secondary pneumonic plague"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10398"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "pneumonic plague"^^xsd:string ; rdfs:subClassOf obo:DOID_3482, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_10399 oboInOwl:hasDbXref "ICD9CM:098.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:23975003"^^xsd:string, "UMLS_CUI:C0153205"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal seminal vesiculitis, chronic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10399"^^xsd:string ; a owl:Class ; rdfs:label "seminal vesicle chronic gonorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_10400 . obo:DOID_104 obo:IAO_0000115 "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A49.9"^^xsd:string, "MESH:D001424"^^xsd:string, "NCI:C2890"^^xsd:string, "SNOMEDCT_US_2021_03_01:87628006"^^xsd:string, "UMLS_CUI:C0004623"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:104"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] ) ] . obo:DOID_1040 obo:IAO_0000115 "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000095"^^xsd:string, "GARD:6104"^^xsd:string, "ICD10CM:C91.10"^^xsd:string, "ICD9CM:204.1"^^xsd:string, "MESH:D015451"^^xsd:string, "NCI:C3163"^^xsd:string, "OMIM:109543"^^xsd:string, "OMIM:151400"^^xsd:string, "OMIM:609630"^^xsd:string, "OMIM:612557"^^xsd:string, "OMIM:612558"^^xsd:string, "OMIM:612559"^^xsd:string, "ORDO:67038"^^xsd:string, "SNOMEDCT_US_2021_03_01:51092000"^^xsd:string, "UMLS_CUI:C0023434"^^xsd:string ; oboInOwl:hasExactSynonym "B-cell chronic lymphocytic leukaemia"@en, "B-cell chronic lymphocytic leukemia"@en, "CLL"@en, "chronic lymphatic leukaemia"@en, "chronic lymphatic leukemia"@en, "chronic lymphocytic leukaemia"@en, "lymphoplasmacytic leukaemia"@en, "lymphoplasmacytic leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "B-cell chronic lymphoid leukemia"@en ; oboInOwl:id "DOID:1040"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "chronic lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1037, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ] . obo:DOID_10400 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:301990003"^^xsd:string, "UMLS_CUI:C0578661"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal seminal vesiculitis"@en, "Gonorrhea of seminal vesicle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10400"^^xsd:string ; a owl:Class ; rdfs:label "gonococcal seminal vesiculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7551, obo:DOID_9365 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7551 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000998 ] ) ] . obo:DOID_1042 oboInOwl:hasAlternativeId "DOID:10262"^^xsd:string, "DOID:1041"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized infection during labor, delivered"@en, "antepartum generalized infection during labor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1042"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Generalized infection during labor"^^xsd:string ; owl:deprecated true . obo:DOID_10423 oboInOwl:hasDbXref "ICD9CM:523.33"^^xsd:string, "NCI:C34354"^^xsd:string, "SNOMEDCT_US_2021_03_01:155646007"^^xsd:string, "UMLS_CUI:C0001342"^^xsd:string ; oboInOwl:hasExactSynonym "acute Periodontitis"@en, "acute periodontitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10423"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute pericementitis"^^xsd:string ; rdfs:subClassOf obo:DOID_824 . obo:DOID_10426 obo:IAO_0000115 "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14747"^^xsd:string ; oboInOwl:hasDbXref "GARD:10280"^^xsd:string, "ICD10CM:Q76.1"^^xsd:string, "ICD9CM:756.16"^^xsd:string, "MESH:D007714"^^xsd:string, "NCI:C98967"^^xsd:string, "OMIM:PS118100"^^xsd:string, "ORDO:2345"^^xsd:string, "SNOMEDCT_US_2021_03_01:268349005"^^xsd:string, "UMLS_CUI:C0022738"^^xsd:string ; oboInOwl:hasExactSynonym "Klippel-Feil and Turner syndrome"@en, "Klippel-Feil deformity, deafness and facial asymmetry"@en, "autosomal dominant Klippel-Feil syndrome"@en, "congenital dystrophia brevicollis"@en, "congenital synostosis of cervical vertebrae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10426"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Klippel-Feil syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_0080015, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ) ] ) ] . obo:DOID_10428 oboInOwl:hasDbXref "ICD10CM:H18.61"^^xsd:string, "ICD9CM:371.61"^^xsd:string, "SNOMEDCT_US_2021_03_01:193844000"^^xsd:string, "UMLS_CUI:C0155131"^^xsd:string ; oboInOwl:hasExactSynonym "Keratoconus, stable condition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10428"^^xsd:string ; a owl:Class ; rdfs:label "stable condition keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10126 . obo:DOID_10435 obo:IAO_0000115 "A suppurative otitis media with sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:382.02"^^xsd:string, "UMLS_CUI:C0155439"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10435"^^xsd:string ; a owl:Class ; rdfs:label "purulent acute otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11506 . obo:DOID_10437 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10437"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to lymph node"^^xsd:string ; owl:deprecated true . obo:DOID_10439 obo:IAO_0000115 "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.05"^^xsd:string, "ICD9CM:370.07"^^xsd:string, "SNOMEDCT_US_2021_03_01:22440001"^^xsd:string, "UMLS_CUI:C0155072"^^xsd:string ; oboInOwl:hasExactSynonym "Mooren ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10439"^^xsd:string ; a owl:Class ; rdfs:label "Mooren's ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1044 oboInOwl:hasExactSynonym "Non-traumatic muscle tear"@en, "Nontraumatic rupture of muscle (disorder)"@en, "Rupture of muscle, nontraumatic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1044"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nontraumatic rupture of muscle"^^xsd:string ; owl:deprecated true . obo:DOID_10440 obo:IAO_0000115 "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, apergillus, fusarium, and rhizopus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.06"^^xsd:string, "ICD9CM:370.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:59939007"^^xsd:string, "UMLS_CUI:C0155071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10440"^^xsd:string ; a owl:Class ; rdfs:label "mycotic corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10441 obo:IAO_0000115 "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.04"^^xsd:string, "ICD9CM:370.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:47398006"^^xsd:string, "UMLS_CUI:C0155067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10441"^^xsd:string ; a owl:Class ; rdfs:label "marginal corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10442 oboInOwl:hasDbXref "ICD10CM:H16.03"^^xsd:string, "ICD9CM:370.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:193762002"^^xsd:string, "UMLS_CUI:C0155070"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10442"^^xsd:string ; a owl:Class ; rdfs:label "hypopyon ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_10443 . obo:DOID_10443 oboInOwl:hasDbXref "ICD10CM:H20.05"^^xsd:string, "ICD9CM:364.05"^^xsd:string, "NCI:C50593"^^xsd:string, "SNOMEDCT_US_2021_03_01:87807004"^^xsd:string, "UMLS_CUI:C0020641"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10443"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypopyon"^^xsd:string ; rdfs:subClassOf obo:DOID_9383 . obo:DOID_10444 obo:IAO_0000115 "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.02"^^xsd:string, "ICD9CM:370.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:193760005"^^xsd:string, "UMLS_CUI:C0155068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10444"^^xsd:string ; a owl:Class ; rdfs:label "ring corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10445 obo:IAO_0000115 "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.07"^^xsd:string, "ICD9CM:370.06"^^xsd:string, "SNOMEDCT_US_2021_03_01:46606001"^^xsd:string, "UMLS_CUI:C0151844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10445"^^xsd:string ; a owl:Class ; rdfs:label "perforated corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10447 oboInOwl:hasAlternativeId "DOID:10446"^^xsd:string, "DOID:14076"^^xsd:string, "DOID:14077"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid dysfunction of mother, with delivery"@en, "antepartum thyroid dysfunction"@en, "postpartum thyroid dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10447"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_1045 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fascia disease"^^xsd:string ; owl:deprecated true . obo:DOID_10456 obo:IAO_0000115 "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10454"^^xsd:string, "DOID:13751"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.01"^^xsd:string, "ICD9CM:474.00"^^xsd:string, "MESH:D014069"^^xsd:string, "NCI:C116006"^^xsd:string, "SNOMEDCT_US_2021_03_01:195665006"^^xsd:string, "SNOMEDCT_US_2021_03_01:195794009"^^xsd:string, "UMLS_CUI:C0040425"^^xsd:string, "UMLS_CUI:C0149517"^^xsd:string ; oboInOwl:hasExactSynonym "Throat infection - tonsillitis"@en, "chronic tonsillitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tonsillitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100765 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_10457 obo:IAO_0000115 "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A48.1"^^xsd:string, "ICD9CM:482.84"^^xsd:string, "MESH:D007877"^^xsd:string, "NCI:C128339"^^xsd:string, "SNOMEDCT_US_2021_03_01:195889001"^^xsd:string, "UMLS_CUI:C0023241"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Legionella pneumophilia"@en, "Legionella"@en, "Legionella pneumonia"@en, "Legionnaire's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10457"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Legionnaires' disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10458, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_10458 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007876"^^xsd:string, "NCI:C128334"^^xsd:string, "SNOMEDCT_US_2021_03_01:26726000"^^xsd:string, "UMLS_CUI:C0023240"^^xsd:string ; oboInOwl:hasExactSynonym "Legionella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10458"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "legionellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_446 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_10459 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J00"^^xsd:string, "ICD9CM:460"^^xsd:string, "MESH:D003139"^^xsd:string, "NCI:C34500"^^xsd:string, "SNOMEDCT_US_2021_03_01:195648002"^^xsd:string, "UMLS_CUI:C0009443"^^xsd:string ; oboInOwl:hasExactSynonym "Acute viral rhinopharyngitis"@en, "Nasopharyngitis - acute"@en, "Nasopharyngitis, acute"@en, "acute Nasopharyngitis"@en, "acute coryza"@en, "acute nasopharyngitis"@en, "acute rhinitis"@en, "rhino-sinusitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "common cold"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_10460 obo:IAO_0000115 "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11587"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J00"^^xsd:string, "ICD10CM:J31.1"^^xsd:string, "ICD9CM:472.2"^^xsd:string, "MESH:D009304"^^xsd:string, "NCI:C34837"^^xsd:string, "SNOMEDCT_US_2021_03_01:155524006"^^xsd:string, "SNOMEDCT_US_2021_03_01:51476001"^^xsd:string, "UMLS_CUI:C0027441"^^xsd:string, "UMLS_CUI:C0155826"^^xsd:string ; oboInOwl:hasExactSynonym "chronic nasopharyngitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10460"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasopharyngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9561 . obo:DOID_10461 oboInOwl:hasDbXref "ICD10CM:K02"^^xsd:string, "ICD9CM:521.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:442551007"^^xsd:string, "UMLS_CUI:C0266846"^^xsd:string ; oboInOwl:hasExactSynonym "Compound dental caries"@en, "Dental caries extending into dentine"@en, "Dentin caries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10461"^^xsd:string ; a owl:Class ; rdfs:label "dentin caries"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_10469 oboInOwl:hasExactSynonym "Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_1047 oboInOwl:hasAlternativeId "DOID:1046"^^xsd:string, "DOID:10663"^^xsd:string, "DOID:10664"^^xsd:string, "DOID:10665"^^xsd:string, "DOID:12734"^^xsd:string, "DOID:14128"^^xsd:string, "DOID:9701"^^xsd:string ; oboInOwl:hasExactSynonym "Mental disorder of mother, antepartum"@en, "Mental disorder of mother, with delivery"@en, "peripheral neuritis antepartum"@en, "peripheral neuritis in pregnancy, with delivery"@en, "peripheral neuritis postpartum"@en, "postpartum edema or excessive weight gain"@en, "postpartum mental disorder of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1047"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_10471 oboInOwl:hasDbXref "ICD10CM:M76.5"^^xsd:string, "ICD9CM:726.64"^^xsd:string, "SNOMEDCT_US_2021_03_01:156662006"^^xsd:string, "UMLS_CUI:C0158317"^^xsd:string ; oboInOwl:hasExactSynonym "Patellar tendonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10471"^^xsd:string ; a owl:Class ; rdfs:label "patellar tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_971 . obo:DOID_10472 obo:IAO_0000115 "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "Candidiasis of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10472"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10473 oboInOwl:hasExactSynonym "Enthesopathy of the wrist and carpus (disorder)"@en, "Enthesopathy of wrist and carpus"@en, "Enthesopathy of wrist and/or carpus (disorder)"@en, "Wrist or carpus enthesopathy NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10473"^^xsd:string ; a owl:Class ; rdfs:label "obsolete wrist or carpus enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_10480 oboInOwl:hasDbXref "ICD10CM:Q79.1"^^xsd:string, "MESH:D003965"^^xsd:string, "NCI:C98912"^^xsd:string, "SNOMEDCT_US_2021_03_01:34168003"^^xsd:string, "UMLS_CUI:C0011981"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diaphragmatic eventration"^^xsd:string ; rdfs:subClassOf obo:DOID_10481 . obo:DOID_10481 obo:IAO_0000115 "A muscular disease that is located_in the diaphragm."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.6"^^xsd:string, "ICD9CM:519.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:48475001"^^xsd:string, "UMLS_CUI:C0152097"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10481"^^xsd:string ; a owl:Class ; rdfs:label "diaphragm disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001103 ] ) ] . obo:DOID_10483 oboInOwl:hasAlternativeId "DOID:10482"^^xsd:string, "DOID:11860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10483"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertonic, incoordinate, or prolonged uterine contractions"^^xsd:string ; owl:deprecated true . obo:DOID_10485 oboInOwl:hasDbXref "GARD:6381"^^xsd:string, "ICD10CM:Q39.0"^^xsd:string, "MESH:D004933"^^xsd:string, "NCI:C87072"^^xsd:string, "SNOMEDCT_US_2021_03_01:156947007"^^xsd:string, "UMLS_CUI:C0014850"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital atresia of esophagus"@en, "Congenital imperforate esophagus"@en, "Imperforate esophagus"@en, "Oesophageal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10485"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_10486 oboInOwl:hasDbXref "ICD10CM:Q41.1"^^xsd:string, "MESH:D007409"^^xsd:string, "NCI:C84790"^^xsd:string, "UMLS_CUI:C0021828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10487 obo:IAO_0000115 "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel."^^xsd:string ; oboInOwl:hasDbXref "GARD:6660"^^xsd:string, "ICD10CM:Q43.1"^^xsd:string, "MESH:D006627"^^xsd:string, "NCI:C34700"^^xsd:string, "OMIM:600156"^^xsd:string, "OMIM:606874"^^xsd:string, "OMIM:606875"^^xsd:string, "OMIM:608462"^^xsd:string, "OMIM:611644"^^xsd:string, "ORDO:388"^^xsd:string, "SNOMEDCT_US_2021_03_01:204739008"^^xsd:string, "UMLS_CUI:C0019569"^^xsd:string ; oboInOwl:hasExactSynonym "Hirschsprung disease"@en, "aganglionic megacolon"@en, "congenital megacolon"@en, "macrocolon"@en, "pelvirectal achalasia"@en, "total intestinal aganglionosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10487"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Hirschsprung's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11372 . obo:DOID_10488 oboInOwl:hasDbXref "GARD:6769"^^xsd:string, "ICD10CM:Q42.3"^^xsd:string, "MESH:D001006"^^xsd:string, "NCI:C84784"^^xsd:string, "OMIM:207500"^^xsd:string, "OMIM:301800"^^xsd:string, "SNOMEDCT_US_2021_03_01:156956004"^^xsd:string, "UMLS_CUI:C0003466"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital atresia of anus"@en, "Congenital or infantile occlusion of anus"@en, "Imperforate anus"@en, "anal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "imperforate anus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3128 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] ) ] . obo:DOID_10489 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transient disorder of initiating or maintaining wakefulness"^^xsd:string ; owl:deprecated true . obo:DOID_10493 oboInOwl:hasDbXref "ICD9CM:255.4"^^xsd:string, "NCI:C26691"^^xsd:string, "SNOMEDCT_US_2021_03_01:68588005"^^xsd:string, "UMLS_CUI:C0405580"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal Cortical Insufficiency"@en, "Corticoadrenal insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10493"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal cortical hypofunction"^^xsd:string ; rdfs:subClassOf obo:DOID_3952 . obo:DOID_10494 oboInOwl:hasExactSynonym "Syphilitic endocarditis of pulmonary valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10494"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10499 oboInOwl:hasDbXref "ICD10CM:H05.11"^^xsd:string, "ICD9CM:376.11"^^xsd:string, "NCI:C3653"^^xsd:string, "SNOMEDCT_US_2021_03_01:194008000"^^xsd:string, "UMLS_CUI:C0155262"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10499"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbital granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1397 . obo:DOID_10501 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10501"^^xsd:string ; a owl:Class ; rdfs:label "obsolete menopausal and postmenopausal disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10505 oboInOwl:hasAlternativeId "DOID:10504"^^xsd:string ; oboInOwl:hasExactSynonym "generalized nonconvulsive epilepsy with intractable epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10505"^^xsd:string ; a owl:Class ; rdfs:label "obsolete generalized nonconvulsive epilepsy disease"^^xsd:string ; owl:deprecated true . obo:DOID_10507 obo:IAO_0000115 "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I24.1"^^xsd:string, "ICD9CM:411.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:66189004"^^xsd:string, "UMLS_CUI:C0152107"^^xsd:string ; oboInOwl:hasExactSynonym "Dressler syndrome"@en, "Postmyocardial infarction syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10507"^^xsd:string ; a owl:Class ; rdfs:label "Dressler's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_10508 obo:IAO_0000115 "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis."^^xsd:string ; oboInOwl:hasExactSynonym "Anthrax pneumonia (disorder)"@en, "Pneumonia in anthrax"@en, "Woolsorters' pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10508"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacillus anthracis pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10510 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills."^^xsd:string ; oboInOwl:hasExactSynonym "influenza pneumonia"@en, "influenzal pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10510"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza virus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10516 obo:IAO_0000115 "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H60.2"^^xsd:string, "ICD9CM:380.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:194206006"^^xsd:string, "UMLS_CUI:C0155395"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10516"^^xsd:string ; a owl:Class ; rdfs:label "malignant otitis externa"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10518 obo:IAO_0000115 "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:30250000"^^xsd:string, "UMLS_CUI:C0155393"^^xsd:string ; oboInOwl:hasExactSynonym "Tank ear"@en, "acute bacterial inflammation of external ear"@en, "acute otitis externa, diffuse"@en, "acute swimmer's ear"@en, "acute swimmers' ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10518"^^xsd:string ; a owl:Class ; rdfs:label "beach ear"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10519 obo:IAO_0000115 "A otomycosis which is persistent and long-lasting or recurrent."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:111898002"^^xsd:string, "UMLS_CUI:C0155396"^^xsd:string ; oboInOwl:hasExactSynonym "chronic mycotic otitis externa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10519"^^xsd:string ; a owl:Class ; rdfs:label "chronic fungal otitis externa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050147, obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_10520 obo:IAO_0000115 "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:56663002"^^xsd:string, "UMLS_CUI:C0155392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10520"^^xsd:string ; a owl:Class ; rdfs:label "acute infection of pinna"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10521 oboInOwl:hasExactSynonym "Unspecified disorder of pinna (disorder)"@en, "disorder of pinna (disorder)"@en, "disorder of pinna, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10521"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pinna disease"^^xsd:string ; owl:deprecated true . obo:DOID_10525 obo:IAO_0000115 "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple \"heads\" or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:372.44"^^xsd:string, "SNOMEDCT_US_2021_03_01:193883003"^^xsd:string, "UMLS_CUI:C0155157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10525"^^xsd:string ; a owl:Class ; rdfs:label "double pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_0002116 . obo:DOID_10526 obo:IAO_0000115 "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasExactSynonym "Web eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10526"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_0002116, obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_10527 obo:IAO_0000115 "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless."^^xsd:string ; oboInOwl:hasExactSynonym "Haemophilus influenzae pneumonia (disorder)"@en, "Pneumonia due to H. influenzae"@en, "Pneumonia due to Hemophilus influenzae [H. influenzae]"@en, "pneumonia due to hemophilus influenzae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10527"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10528 oboInOwl:hasExactSynonym "HEMOPHILUS INFLUENZA INFECTION"@en, "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters"@en, "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)"@en, "Haemophilus influenzae infection (disorder)"@en, "Haemophilus influenzae infection, unspecified (disorder)"@en, "Hemophilus Influenza Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10528"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10529 oboInOwl:hasExactSynonym "Haemophilus infection (disorder)"@en, "Hemophilus Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10529"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Haemophilus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1053 oboInOwl:hasAlternativeId "DOID:1052"^^xsd:string, "DOID:11114"^^xsd:string, "DOID:11311"^^xsd:string, "DOID:12032"^^xsd:string, "DOID:12370"^^xsd:string, "DOID:13332"^^xsd:string, "DOID:13797"^^xsd:string, "DOID:1710"^^xsd:string ; oboInOwl:hasExactSynonym "Developmental dislocation of ankle and foot joint"@en, "Developmental dislocation of forearm joint"@en, "Developmental dislocation of hand joint"@en, "Developmental dislocation of joint of multiple sites"@en, "Developmental dislocation of joint of pelvic region and thigh"@en, "Developmental dislocation of joint of shoulder region"@en, "Developmental dislocation of lower leg joint"@en, "Developmental dislocation of upper arm joint"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete developmental dislocation of joint"^^xsd:string ; owl:deprecated true . obo:DOID_10531 obo:IAO_0000115 "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting."^^xsd:string ; oboInOwl:hasExactSynonym "Chest infection - pneumococcal pneumonia"@en, "Lobar -pneumococcal -pneumonia"@en, "Lobar pneumonia (disorder)"@en, "Pneumococcal lobar pneumonia (disorder)"@en, "Pneumococcal pneumonia (disorder)"@en, "Pneumococcal pneumonia (disorder) [Ambiguous]"@en, "Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]"@en, "Streptococcus pneumoniae pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10531"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10532 obo:IAO_0000115 "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10532"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10533 obo:IAO_0000115 "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13167"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J12.9"^^xsd:string, "ICD9CM:480"^^xsd:string, "MESH:D011024"^^xsd:string, "SNOMEDCT_US_2021_03_01:195880002"^^xsd:string, "UMLS_CUI:C0032310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10533"^^xsd:string ; a owl:Class ; rdfs:label "viral pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_10534 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the stomach."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10539"^^xsd:string, "DOID:10542"^^xsd:string, "DOID:10543"^^xsd:string, "DOID:4713"^^xsd:string ; oboInOwl:hasDbXref "GARD:7704"^^xsd:string, "ICD10CM:C16"^^xsd:string, "ICD10CM:C16.2"^^xsd:string, "ICD10CM:C16.5"^^xsd:string, "ICD10CM:C16.6"^^xsd:string, "ICD9CM:151"^^xsd:string, "ICD9CM:151.4"^^xsd:string, "ICD9CM:151.5"^^xsd:string, "ICD9CM:151.6"^^xsd:string, "MESH:D013274"^^xsd:string, "NCI:C3387"^^xsd:string, "NCI:C9331"^^xsd:string, "OMIM:613659"^^xsd:string, "SNOMEDCT_US_2021_03_01:126824007"^^xsd:string, "SNOMEDCT_US_2021_03_01:269459004"^^xsd:string, "SNOMEDCT_US_2021_03_01:269460009"^^xsd:string, "SNOMEDCT_US_2021_03_01:93717002"^^xsd:string, "SNOMEDCT_US_2021_03_01:94074003"^^xsd:string, "UMLS_CUI:C0024623"^^xsd:string, "UMLS_CUI:C0038356"^^xsd:string, "UMLS_CUI:C0153421"^^xsd:string, "UMLS_CUI:C0153422"^^xsd:string, "UMLS_CUI:C0153423"^^xsd:string ; oboInOwl:hasExactSynonym "gastric cancer"@en, "gastric neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10534"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "stomach cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_76 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] ) ] . obo:DOID_10535 obo:IAO_0000115 "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10536 oboInOwl:hasDbXref "NCI:C5484"^^xsd:string, "UMLS_CUI:C1334585"^^xsd:string ; oboInOwl:hasExactSynonym "malignant gastric granular cell tumour"@en, "malignant granular cell tumor of stomach"@en, "malignant granular cell tumour of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10536"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant gastric granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_10537 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10537"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant gastric neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10538 obo:IAO_0000115 "A stomach cancer that is located_in the gastric fundus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C16.1"^^xsd:string, "ICD9CM:151.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93809003"^^xsd:string, "UMLS_CUI:C0153420"^^xsd:string ; oboInOwl:hasExactSynonym "Ca fundus - stomach"@en, "malignant neoplasm of fundus of stomach"@en, "malignant tumor of fundus of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10538"^^xsd:string ; a owl:Class ; rdfs:label "gastric fundus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001160 ] ) ] . obo:DOID_1054 oboInOwl:hasExactSynonym "Glaucoma associated with chamber angle anomalies (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1054"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with chamber angle anomalies"^^xsd:string ; owl:deprecated true . obo:DOID_10540 oboInOwl:hasDbXref "GARD:6485"^^xsd:string, "NCI:C4636"^^xsd:string, "SNOMEDCT_US_2021_03_01:276811008"^^xsd:string, "UMLS_CUI:C0349532"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10534, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10541 oboInOwl:hasDbXref "NCI:C27131"^^xsd:string, "SNOMEDCT_US_2021_03_01:276809004"^^xsd:string, "UMLS_CUI:C0349530"^^xsd:string ; oboInOwl:hasExactSynonym "Surface gastric cancer"@en, "early gastric cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10541"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microinvasive gastric cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3717 . obo:DOID_10544 oboInOwl:hasDbXref "ICD10CM:C16.4"^^xsd:string, "ICD9CM:151.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:187736009"^^xsd:string, "UMLS_CUI:C0153418"^^xsd:string ; oboInOwl:hasExactSynonym "Ca pylorus - stomach"@en, "malignant neoplasm of Prepylorus"@en, "malignant neoplasm of pylorus of stomach"@en, "malignant tumor of pylorus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10544"^^xsd:string ; a owl:Class ; rdfs:label "pylorus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001166 ] ) ] . obo:DOID_10545 obo:IAO_0000115 "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10546"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10545"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackievirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10547 oboInOwl:hasDbXref "ICD10CM:C16.3"^^xsd:string, "ICD9CM:151.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93976007"^^xsd:string, "UMLS_CUI:C0153419"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of antrum of stomach"@en, "malignant tumor of pyloric antrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10547"^^xsd:string ; a owl:Class ; rdfs:label "pyloric antrum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10544 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001165 ] ) ] . obo:DOID_10548 oboInOwl:hasDbXref "ICD10CM:C16.0"^^xsd:string, "ICD9CM:151.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:93738008"^^xsd:string, "UMLS_CUI:C0153417"^^xsd:string ; oboInOwl:hasExactSynonym "Ca cardia - stomach"@en, "malignant neoplasm of cardia of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10548"^^xsd:string ; a owl:Class ; rdfs:label "cardia cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001162 ] ) ] . obo:DOID_10549 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_1055 oboInOwl:hasExactSynonym "Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1055"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10550 obo:IAO_0000115 "A otosalpingitis with a sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H68.01"^^xsd:string, "ICD9CM:381.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:194268005"^^xsd:string, "UMLS_CUI:C0155429"^^xsd:string ; oboInOwl:hasExactSynonym "acute eustachian tube salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10550"^^xsd:string ; a owl:Class ; rdfs:label "acute eustachian salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2000 . obo:DOID_10551 obo:IAO_0000115 "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures."^^xsd:string ; oboInOwl:hasExactSynonym "Encephalitis due to acquired toxoplasmosis"@en, "Meningoencephalitis due to acquired toxoplasmosis (disorder)"@en, "Meningoencephalitis due to toxoplasmosis"@en, "Toxoplasma encephalitis"@en, "Toxoplasma encephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10551"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral toxoplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_10554 obo:IAO_0000115 "A central nervous system disease that involves encephalitis which occurs along with meningitis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A69.22"^^xsd:string, "MESH:D008590"^^xsd:string, "NCI:C34813"^^xsd:string, "SNOMEDCT_US_2021_03_01:7125002"^^xsd:string, "UMLS_CUI:C0025309"^^xsd:string ; oboInOwl:hasExactSynonym "Meningoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10554"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_10556 obo:IAO_0000115 "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10555"^^xsd:string, "DOID:12413"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:669.20"^^xsd:string, "UMLS_CUI:C0157456"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum maternal hypotension syndrome"@en, "postpartum maternal hypotension syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10556"^^xsd:string ; a owl:Class ; rdfs:label "supine hypotensive syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000769 ] . obo:DOID_10557 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10557"^^xsd:string ; a owl:Class ; rdfs:label "obsolete maternal distress"^^xsd:string ; owl:deprecated true . obo:DOID_1056 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney."^^xsd:string ; oboInOwl:hasDbXref "GARD:3295"^^xsd:string, "ICD10CM:E72.03"^^xsd:string, "MEDDRA:10051707"^^xsd:string, "MESH:D009800"^^xsd:string, "NCI:C84940"^^xsd:string, "OMIM:309000"^^xsd:string, "ORDO:534"^^xsd:string, "SNOMEDCT_US_2021_03_01:79385002"^^xsd:string, "UMLS_CUI:C0028860"^^xsd:string ; oboInOwl:hasExactSynonym "Lowe syndrome"@en, "lowe oculocerebrorenal syndrome"@en, "oculocerebrorenal syndrome of Lowe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1056"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "oculocerebrorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_10561 oboInOwl:hasExactSynonym "hyperkeratosis due to yaws"@en, "hyperkeratosis of yaws (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10561"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete yaws hyperkeratosis"^^xsd:string ; owl:deprecated true . obo:DOID_10564 obo:IAO_0000115 "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue."^^xsd:string ; oboInOwl:hasExactSynonym "Gangosa"@en, "Gangosa of yaws (disorder)"@en, "Rhinopharyngitis mutilans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10564"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete gangosa of yaws"^^xsd:string ; owl:deprecated true . obo:DOID_10567 obo:IAO_0000115 "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10370"^^xsd:string, "DOID:10562"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A66.1"^^xsd:string, "ICD10CM:A66.4"^^xsd:string, "ICD9CM:102.1"^^xsd:string, "ICD9CM:102.4"^^xsd:string, "NCI:C41354"^^xsd:string, "SNOMEDCT_US_2021_03_01:186968004"^^xsd:string, "UMLS_CUI:C0153234"^^xsd:string, "UMLS_CUI:C0276007"^^xsd:string, "UMLS_CUI:C1517744"^^xsd:string ; oboInOwl:hasExactSynonym "Gummata and ulcers due to yaws"@en, "Gummata of yaws"@en, "Ulcers of yaws"@en, "Yaws gummata and ulcers"@en, "gummatous frambeside"@en, "multiple papillomata due to yaws and wet crab yaws"@en, "nodular late yaws"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10567"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "late yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_10371 . obo:DOID_10568 obo:IAO_0000115 "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10563"^^xsd:string, "DOID:10565"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A66.0"^^xsd:string, "ICD10CM:A66.6"^^xsd:string, "ICD9CM:102.0"^^xsd:string, "ICD9CM:102.6"^^xsd:string, "NCI:C41352"^^xsd:string, "SNOMEDCT_US_2021_03_01:23191004"^^xsd:string, "SNOMEDCT_US_2021_03_01:266147005"^^xsd:string, "SNOMEDCT_US_2021_03_01:49442000"^^xsd:string, "UMLS_CUI:C0275990"^^xsd:string, "UMLS_CUI:C0275998"^^xsd:string, "UMLS_CUI:C0343834"^^xsd:string ; oboInOwl:hasExactSynonym "Frambesia, initial or primary"@en, "Initial frambesial ulcer"@en, "Initial lesions of yaws"@en, "bone and joint lesions due to yaws"@en, "bone and joint yaws lesion"@en, "chancre of yaws"@en, "primary frambesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10568"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "early yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_10371 . obo:DOID_10569 oboInOwl:hasExactSynonym "Critical illness myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10569"^^xsd:string ; a owl:Class ; rdfs:label "obsolete myopathy of critical illness"^^xsd:string ; owl:deprecated true . obo:DOID_1057 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1057"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inborn amino acid transport disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10573 obo:IAO_0000115 "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:7285"^^xsd:string, "ICD9CM:268.2"^^xsd:string, "NCI:C26838"^^xsd:string, "SNOMEDCT_US_2021_03_01:190639009"^^xsd:string, "UMLS_CUI:C0029442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 ; skos:exactMatch "MESH:D010018"^^xsd:string . obo:DOID_10574 oboInOwl:hasExactSynonym "Avitaminosis D"@en, "Avitaminosis D NOS (disorder)"@en, "Unspecified vitamin D deficiency"@en, "deficiency of vitamin D (disorder)"@en, "vitamin D deficiency"@en, "vitamin D deficiency (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10574"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin D deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_10575 oboInOwl:hasDbXref "ICD10CM:E83.5"^^xsd:string, "ICD9CM:275.4"^^xsd:string, "MESH:D002128"^^xsd:string, "SNOMEDCT_US_2021_03_01:267442002"^^xsd:string, "UMLS_CUI:C0006705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10575"^^xsd:string ; a owl:Class ; rdfs:label "calcium metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050032 . obo:DOID_10579 obo:IAO_0000115 "A cerebral degeneration characterized by dysfunction of the white matter of the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:6895"^^xsd:string, "ICD9CM:330.0"^^xsd:string, "NCI:C61253"^^xsd:string, "SNOMEDCT_US_2021_03_01:5101009"^^xsd:string, "UMLS_CUI:C0023520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10579"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_1058 oboInOwl:hasExactSynonym "Disturbances of amino-acid transport"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1058"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amino acid transport disease"^^xsd:string ; owl:deprecated true . obo:DOID_10581 obo:IAO_0000115 "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:3230"^^xsd:string, "ICD10CM:E75.25"^^xsd:string, "MESH:D007966"^^xsd:string, "NCI:C61251"^^xsd:string, "OMIM:249900"^^xsd:string, "OMIM:250100"^^xsd:string, "ORDO:512"^^xsd:string, "SNOMEDCT_US_2021_03_01:3621006"^^xsd:string, "UMLS_CUI:C0023522"^^xsd:string ; oboInOwl:hasExactSynonym "MLD"@en, "Scholz cerebral sclerosis"@en, "arylsulfatase A deficiency"@en, "deficiency of cerebroside-sulfatase"@en, "sulfatide lipoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10581"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "metachromatic leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_10582 oboInOwl:hasDbXref "GARD:5691"^^xsd:string, "ICD10CM:G60.1"^^xsd:string, "ICD9CM:356.3"^^xsd:string, "MESH:D012035"^^xsd:string, "NCI:C85043"^^xsd:string, "OMIM:266500"^^xsd:string, "OMIM:266510"^^xsd:string, "SNOMEDCT_US_2021_03_01:25362006"^^xsd:string, "UMLS_CUI:C0034960"^^xsd:string ; oboInOwl:hasExactSynonym "HMSN type IV"@en, "HSMN IV"@en, "Heredopathia atactica polyneuritiformis"@en, "Refsum's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10582"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Refsum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_10584 obo:IAO_0000115 "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14742"^^xsd:string ; oboInOwl:hasDbXref "GARD:5694"^^xsd:string, "ICD10CM:H35.52"^^xsd:string, "MESH:C538365"^^xsd:string, "MESH:D012174"^^xsd:string, "NCI:C85045"^^xsd:string, "OMIM:PS268000"^^xsd:string, "ORDO:791"^^xsd:string, "SNOMEDCT_US_2021_03_01:155113002"^^xsd:string, "UMLS_CUI:C0035334"^^xsd:string, "UMLS_CUI:C0220701"^^xsd:string ; oboInOwl:hasExactSynonym "pericentral pigmentary retinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10584"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "retinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_10585 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10585"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary and idiopathic peripheral neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_10587 oboInOwl:hasDbXref "GARD:6844"^^xsd:string, "ICD10CM:E75.23"^^xsd:string, "MESH:D007965"^^xsd:string, "NCI:C61254"^^xsd:string, "OMIM:245200"^^xsd:string, "SNOMEDCT_US_2021_03_01:192782005"^^xsd:string, "UMLS_CUI:C0023521"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse globoid body sclerosis"@en, "GLOBOID CELL LEUKOENCEPHALOPATHY"@en, "Galactosylceramide beta-galactosidase deficiency"@en, "Krabbe's disease"@en, "Krabbe's leukodystrophy"@en, "beta galactocerebrosidase deficiency"@en, "globoid cell leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Krabbe disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_10588 obo:IAO_0000115 "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13451"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.52"^^xsd:string, "MESH:D000326"^^xsd:string, "NCI:C61252"^^xsd:string, "OMIM:300100"^^xsd:string, "SNOMEDCT_US_2021_03_01:65389002"^^xsd:string, "UMLS_CUI:C0162309"^^xsd:string ; oboInOwl:hasExactSynonym "ALD"@en, "Bronze Schilder disease"@en, "Encephalitis periaxialis concentrica"@en, "Encephalitis periaxialis, Schilder's"@en, "Siemerling-Creutzfeldt Disease"@en, "X-linked adrenoleukodystrophy"@en, "diffuse sclerosis"@en, "sudanophilic cerebral sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10588"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:D000326w added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "adrenoleukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D000326"^^xsd:string . obo:DOID_1059 obo:IAO_0000115 "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84392"^^xsd:string, "SNOMEDCT_US_2021_03_01:1855002"^^xsd:string, "UMLS_CUI:C0025362"^^xsd:string ; oboInOwl:hasExactSynonym "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mental retardation"@en ; oboInOwl:id "DOID:1059"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0012759 ] . obo:DOID_10590 obo:IAO_0000115 "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:642.40"^^xsd:string, "UMLS_CUI:C0156664"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10590"^^xsd:string ; a owl:Class ; rdfs:label "mild pre-eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10591 . obo:DOID_10591 obo:IAO_0000115 "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12684"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O14"^^xsd:string, "MESH:D011225"^^xsd:string, "NCI:C85021"^^xsd:string, "OMIM:189800"^^xsd:string, "OMIM:609402"^^xsd:string, "OMIM:609403"^^xsd:string, "OMIM:609404"^^xsd:string, "OMIM:614592"^^xsd:string, "ORDO:275555"^^xsd:string, "SNOMEDCT_US_2021_03_01:6758009"^^xsd:string, "UMLS_CUI:C0032914"^^xsd:string ; oboInOwl:hasExactSynonym "gestational hypertension"@en, "hypertension induced by pregnancy"@en, "pre-eclamptic toxaemia"@en, "preeclampsia"@en, "preeclampsia/eclampsia"@en, "pregnancy associated hypertension"@en, "pregnancy toxemia"@en, "proteinuric hypertension of pregnancy"@en, "toxaemia of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10591"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "pre-eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10593 oboInOwl:hasDbXref "ICD9CM:356.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:193164007"^^xsd:string, "UMLS_CUI:C0154756"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic progressive polyneuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10593"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic progressive polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1389 . obo:DOID_10594 oboInOwl:hasExactSynonym "Unspecified idiopathic peripheral neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10594"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_10595 obo:IAO_0000115 "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm."^^xsd:string ; oboInOwl:hasDbXref "GARD:6034"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "ICD9CM:356.1"^^xsd:string, "MESH:D002607"^^xsd:string, "NCI:C75467"^^xsd:string, "OMIM:PS118220"^^xsd:string, "SNOMEDCT_US_2021_03_01:193158000"^^xsd:string, "UMLS_CUI:C0007959"^^xsd:string ; oboInOwl:hasExactSynonym "CMT - Charcot-Marie-Tooth disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10595"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_440 . obo:DOID_10597 oboInOwl:hasExactSynonym "Gonococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10597"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_106 obo:IAO_0000115 "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12624"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A15.6"^^xsd:string, "ICD9CM:010.1"^^xsd:string, "ICD9CM:012.0"^^xsd:string, "MESH:D014396"^^xsd:string, "NCI:C26898"^^xsd:string, "SNOMEDCT_US_2021_03_01:186172004"^^xsd:string, "SNOMEDCT_US_2021_03_01:68706009"^^xsd:string, "UMLS_CUI:C0041326"^^xsd:string, "UMLS_CUI:C0152531"^^xsd:string ; oboInOwl:hasExactSynonym "Pearly disease"@en, "Tuberculosis of pleura"@en, "Tuberculous pleurisy"@en, "Tuberculous pleuritis"@en, "tuberculous pleurisy in primary progressive tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pleural tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_1205, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_1060 obo:IAO_0000115 "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum."^^xsd:string ; oboInOwl:hasDbXref "GARD:6569"^^xsd:string, "ICD10CM:E72.02"^^xsd:string, "MESH:D006250"^^xsd:string, "NCI:C84748"^^xsd:string, "OMIM:234500"^^xsd:string, "SNOMEDCT_US_2021_03_01:80902009"^^xsd:string, "UMLS_CUI:C0018609"^^xsd:string ; oboInOwl:hasExactSynonym "Neutral 1 amino acid transport defect"@en, "deficiency of tryptophan oxygenase"@en, "neutral amino acid transport defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hartnup disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003355 ] . obo:DOID_10600 obo:IAO_0000115 "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F95.1"^^xsd:string, "ICD9CM:307.22"^^xsd:string, "MESH:D013981"^^xsd:string, "NCI:C116768"^^xsd:string, "SNOMEDCT_US_2021_03_01:192623005"^^xsd:string, "UMLS_CUI:C0008701"^^xsd:string ; oboInOwl:hasExactSynonym "chronic motor or vocal tic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10600"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic tic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2769, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100035 ] . obo:DOID_10602 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10602"^^xsd:string ; a owl:Class ; rdfs:comment "doid/symp duplicate - moved to Symptom Ontology"^^xsd:string ; rdfs:label "obsolete steatorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_10603 oboInOwl:hasDbXref "ICD10CM:R73.03"^^xsd:string, "MESH:D018149"^^xsd:string, "NCI:C34646"^^xsd:string, "SNOMEDCT_US_2021_03_01:267426009"^^xsd:string, "UMLS_CUI:C0271650"^^xsd:string ; oboInOwl:hasExactSynonym "Glucose: intolerance"@en, "Glucose: malabsorption"@en, "Malabsorption of glucose"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glucose intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_4195 . obo:DOID_10604 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E73"^^xsd:string, "MESH:D007787"^^xsd:string, "NCI:C3154"^^xsd:string, "OMIM:223100"^^xsd:string, "SNOMEDCT_US_2021_03_01:267497007"^^xsd:string, "UMLS_CUI:C0022951"^^xsd:string ; oboInOwl:hasExactSynonym "LM - Lactose malabsorption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10604"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lactose intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 ; skos:exactMatch "MESH:D007787"^^xsd:string . obo:DOID_10605 obo:IAO_0000115 "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012778"^^xsd:string, "NCI:C99059"^^xsd:string, "SNOMEDCT_US_2021_03_01:204768009"^^xsd:string, "UMLS_CUI:C0036992"^^xsd:string ; oboInOwl:hasExactSynonym "acquired short bowel syndrome"@en, "short gut syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10605"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "short bowel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10606 obo:IAO_0000115 "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K90.2"^^xsd:string, "ICD9CM:579.2"^^xsd:string, "MESH:D001765"^^xsd:string, "NCI:C34431"^^xsd:string, "SNOMEDCT_US_2021_03_01:77225009"^^xsd:string, "UMLS_CUI:C0005750"^^xsd:string ; oboInOwl:hasExactSynonym "Bacterial overgrowth syndrome"@en, "Blind loop syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blind loop syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10607 oboInOwl:hasDbXref "GARD:7824"^^xsd:string, "ICD10CM:K90.1"^^xsd:string, "ICD9CM:579.1"^^xsd:string, "MESH:D013182"^^xsd:string, "NCI:C45428"^^xsd:string, "SNOMEDCT_US_2021_03_01:155846005"^^xsd:string, "UMLS_CUI:C0038054"^^xsd:string ; oboInOwl:hasExactSynonym "Sprue - tropical"@en, "Tropical steatorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tropical sprue"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000147 ] . obo:DOID_10608 obo:IAO_0000115 "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001060"^^xsd:string, "GARD:11998"^^xsd:string, "ICD10CM:K90.0"^^xsd:string, "ICD9CM:579.0"^^xsd:string, "MESH:D002446"^^xsd:string, "NCI:C26714"^^xsd:string, "OMIM:607202"^^xsd:string, "OMIM:609754"^^xsd:string, "OMIM:611598"^^xsd:string, "OMIM:612005"^^xsd:string, "OMIM:612006"^^xsd:string, "OMIM:612007"^^xsd:string, "OMIM:612008"^^xsd:string, "OMIM:612009"^^xsd:string, "OMIM:612011"^^xsd:string, "ORDO:555"^^xsd:string, "SNOMEDCT_US_2021_03_01:197477005"^^xsd:string, "UMLS_CUI:C0007570"^^xsd:string ; oboInOwl:hasExactSynonym "celiac sprue"@en, "coeliac disease"@en, "idiopathic steatorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10608"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "celiac disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_10609 obo:IAO_0000115 "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11672"^^xsd:string ; oboInOwl:hasDbXref "GARD:5700"^^xsd:string, "ICD10CM:E55.0"^^xsd:string, "MESH:D012279"^^xsd:string, "NCI:C26878"^^xsd:string, "SNOMEDCT_US_2021_03_01:190639009"^^xsd:string, "UMLS_CUI:C0035579"^^xsd:string ; oboInOwl:hasExactSynonym "active rickets"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10609"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 ; skos:exactMatch "MESH:D012279"^^xsd:string . obo:DOID_1061 oboInOwl:hasExactSynonym "inborn renal aminoaciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1061"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal aminoaciduria"^^xsd:string ; owl:deprecated true . obo:DOID_10610 oboInOwl:hasDbXref "ICD10CM:K90.3"^^xsd:string, "ICD9CM:579.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:155845009"^^xsd:string, "UMLS_CUI:C0152166"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic steatorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10610"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic steatorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000147 ] . obo:DOID_10611 oboInOwl:hasDbXref "MESH:D011504"^^xsd:string, "OMIM:226300"^^xsd:string, "SNOMEDCT_US_2021_03_01:66972006"^^xsd:string, "UMLS_CUI:C0033680"^^xsd:string ; oboInOwl:hasExactSynonym "Enteropathy, exudative"@en, "Exudative enteropathy"@en, "Protein-losing enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10611"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "protein-losing enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10612 obo:IAO_0000115 "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.0"^^xsd:string, "ICD9CM:708.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:201260002"^^xsd:string, "UMLS_CUI:C0149526"^^xsd:string ; oboInOwl:hasExactSynonym "Allergic urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10612"^^xsd:string ; a owl:Class ; rdfs:label "allergic urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_1555, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_10615 obo:IAO_0000115 "An acute cervicitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:20943002"^^xsd:string, "UMLS_CUI:C0153195"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal cervicitis"@en, "acute gonorrhea of cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10615"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10616 . obo:DOID_10616 obo:IAO_0000115 "A cervicitis that is characterized by onset within the past 1 - 3 days."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27056"^^xsd:string, "SNOMEDCT_US_2021_03_01:19272000"^^xsd:string, "UMLS_CUI:C0269061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2568 . obo:DOID_10619 obo:IAO_0000115 "A lymphatic system cancer that is located_in the lymph node."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10438"^^xsd:string ; oboInOwl:hasDbXref "GARD:6932"^^xsd:string, "NCI:C35497"^^xsd:string, "SNOMEDCT_US_2021_03_01:127232002"^^xsd:string, "UMLS_CUI:C0596869"^^xsd:string ; oboInOwl:hasExactSynonym "lymph node neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10619"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "lymph node cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_9942 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] ) ] . obo:DOID_1062 obo:IAO_0000115 "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5956"^^xsd:string ; oboInOwl:hasDbXref "GARD:9118"^^xsd:string, "MESH:D005198"^^xsd:string, "NCI:C3034"^^xsd:string, "NCI:C4377"^^xsd:string, "OMIM:PS134600"^^xsd:string, "ORDO:3337"^^xsd:string, "SNOMEDCT_US_2021_03_01:236468006"^^xsd:string, "SNOMEDCT_US_2021_03_01:40488004"^^xsd:string, "UMLS_CUI:C0015624"^^xsd:string, "UMLS_CUI:C0341703"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Fanconi syndrome"@en, "De Toni-Fanconi syndrome"@en, "Fanconi-de Toni syndrome"@en, "Fanconi-de-Toni syndrome"@en, "Infantile nephropathic cystinosis"@en, "Lignac-Fanconi syndrome"@en, "adult Fanconi Anemia"@en, "adult Fanconi syndrome"@en, "deToni Fanconi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1062"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Fanconi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_447 ; skos:exactMatch "MESH:D005198"^^xsd:string . obo:DOID_10621 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10621"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fissure of nipple associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_10626 oboInOwl:hasExactSynonym "Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis"@en, "type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10626"^^xsd:string ; a owl:Class ; rdfs:label "obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis"^^xsd:string ; owl:deprecated true . obo:DOID_10627 oboInOwl:hasDbXref "ICD10CM:H47.21"^^xsd:string, "ICD9CM:377.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:21098003"^^xsd:string, "UMLS_CUI:C0155291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10627"^^xsd:string ; a owl:Class ; rdfs:label "primary optic atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10629 obo:IAO_0000115 "An eye disease where one or both eyeballs are abnormally small."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10650"^^xsd:string ; oboInOwl:hasDbXref "GARD:12085"^^xsd:string, "ICD10CM:Q11.2"^^xsd:string, "ICD9CM:743.1"^^xsd:string, "MESH:D008850"^^xsd:string, "NCI:C98989"^^xsd:string, "SNOMEDCT_US_2021_03_01:156902006"^^xsd:string, "UMLS_CUI:C0026010"^^xsd:string ; oboInOwl:hasExactSynonym "microphthalmos"@en, "simple microphthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10629"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "microphthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_1063 oboInOwl:hasDbXref "ICD10CM:N12"^^xsd:string, "MESH:D009395"^^xsd:string, "NCI:C26834"^^xsd:string, "SNOMEDCT_US_2021_03_01:28689008"^^xsd:string, "UMLS_CUI:C0027707"^^xsd:string ; oboInOwl:hasExactSynonym "renal tubulo-interstitial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1063"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "interstitial nephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10952 . obo:DOID_10630 oboInOwl:hasExactSynonym "optic atrophy associated with retinal dystrophies"@en, "optic atrophy associated with retinal dystrophy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10630"^^xsd:string ; a owl:Class ; rdfs:label "obsolete optic atrophy associated with retinal dystrophy"^^xsd:string ; owl:deprecated true . obo:DOID_10631 oboInOwl:hasDbXref "ICD9CM:377.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:194044005"^^xsd:string, "UMLS_CUI:C0155295"^^xsd:string ; oboInOwl:hasExactSynonym "Partial optic atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10631"^^xsd:string ; a owl:Class ; rdfs:label "partial optic atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10632 obo:IAO_0000115 "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness."^^xsd:string ; oboInOwl:hasDbXref "GARD:7898"^^xsd:string, "MESH:D014929"^^xsd:string, "NCI:C35133"^^xsd:string, "ORDO:3463"^^xsd:string, "SNOMEDCT_US_2021_03_01:70694009"^^xsd:string, "UMLS_CUI:C0043207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wolfram syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_1064 obo:IAO_0000115 "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."^^xsd:string ; oboInOwl:hasDbXref "GARD:6236"^^xsd:string, "MESH:D003554"^^xsd:string, "NCI:C129932"^^xsd:string, "OMIM:219750"^^xsd:string, "OMIM:219800"^^xsd:string, "OMIM:219900"^^xsd:string, "ORDO:213"^^xsd:string, "SNOMEDCT_US_2021_03_01:62332007"^^xsd:string, "UMLS_CUI:C2931187"^^xsd:string ; oboInOwl:hasExactSynonym "cystine storage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1064"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10645 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10645"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic state latent schizophrenia with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_10646 obo:IAO_0000115 "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F21"^^xsd:string, "ICD9CM:301.22"^^xsd:string, "MESH:D012569"^^xsd:string, "NCI:C92632"^^xsd:string, "SNOMEDCT_US_2021_03_01:231486008"^^xsd:string, "UMLS_CUI:C0036363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10646"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizotypal personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10648 oboInOwl:hasDbXref "ICD9CM:410.30"^^xsd:string, "UMLS_CUI:C0155640"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10648"^^xsd:string ; a owl:Class ; rdfs:label "acute inferoposterior infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10649 oboInOwl:hasDbXref "ICD9CM:410.20"^^xsd:string, "UMLS_CUI:C0155636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10649"^^xsd:string ; a owl:Class ; rdfs:label "acute inferolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10651 oboInOwl:hasDbXref "ICD9CM:410.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:70211005"^^xsd:string, "UMLS_CUI:C0155627"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10651"^^xsd:string ; a owl:Class ; rdfs:label "acute anterolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10652 obo:IAO_0000115 "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000249"^^xsd:string, "GARD:10254"^^xsd:string, "ICD10CM:G30"^^xsd:string, "ICD9CM:331.0"^^xsd:string, "KEGG:05010"^^xsd:string, "MESH:D000544"^^xsd:string, "NCI:C2866"^^xsd:string, "SNOMEDCT_US_2021_03_01:73768007"^^xsd:string, "UMLS_CUI:C0002395"^^xsd:string ; oboInOwl:hasExactSynonym "Alzheimer disease"@en, "Alzheimers dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10652"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Alzheimer's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_680 . obo:DOID_10655 oboInOwl:hasDbXref "NCI:C5493"^^xsd:string, "UMLS_CUI:C0940607"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10655"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoma of colon"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, obo:DOID_6460, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_10656 oboInOwl:hasDbXref "NCI:C5492"^^xsd:string, "UMLS_CUI:C1333092"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_10657 oboInOwl:hasDbXref "NCI:C5500"^^xsd:string, "UMLS_CUI:C1333094"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Lymphangioma"@en, "Lymphangioma of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colonic lymphangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_235 . obo:DOID_10659 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10659"^^xsd:string ; a owl:Class ; rdfs:label "obsolete colonic ganglioneuroma"^^xsd:string ; owl:deprecated true . obo:DOID_1066 oboInOwl:hasDbXref "ICD10CM:H40.15"^^xsd:string, "ICD9CM:365.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:66990007"^^xsd:string, "UMLS_CUI:C0154944"^^xsd:string ; oboInOwl:hasExactSynonym "Open-angle glaucoma residual stage"@en, "Residual stage of open angle glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1066"^^xsd:string ; a owl:Class ; rdfs:label "residual stage of open angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1067 . obo:DOID_10660 obo:IAO_0000115 "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6628"^^xsd:string, "UMLS_CUI:C1334673"^^xsd:string ; oboInOwl:hasExactSynonym "neuroblastoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10660"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691 . obo:DOID_10661 oboInOwl:hasDbXref "NCI:C6627"^^xsd:string, "UMLS_CUI:C1334653"^^xsd:string ; oboInOwl:hasExactSynonym "Ganglioneuroblastoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10661"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691 . obo:DOID_1067 obo:IAO_0000115 "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004190"^^xsd:string, "ICD10CM:H40.1"^^xsd:string, "ICD9CM:365.1"^^xsd:string, "MESH:D005902"^^xsd:string, "NCI:C34641"^^xsd:string, "OMIM:137750"^^xsd:string, "OMIM:177700"^^xsd:string, "OMIM:602429"^^xsd:string, "OMIM:603383"^^xsd:string, "OMIM:606689"^^xsd:string, "OMIM:608695"^^xsd:string, "OMIM:608696"^^xsd:string, "OMIM:609745"^^xsd:string, "OMIM:609887"^^xsd:string, "OMIM:610535"^^xsd:string, "OMIM:611274"^^xsd:string, "OMIM:611276"^^xsd:string, "OMIM:613100"^^xsd:string, "SNOMEDCT_US_2021_03_01:84494001"^^xsd:string, "UMLS_CUI:C0017612"^^xsd:string ; oboInOwl:hasExactSynonym "Wide-angle glaucoma"@en, "glaucoma simplex"@en, "open angle glaucoma"@en, "pigmentary glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1067"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "open-angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_1068 obo:IAO_0000115 "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137750"^^xsd:string, "ORDO:98977"^^xsd:string ; oboInOwl:hasExactSynonym "Glaucoma of childhood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1068"^^xsd:string ; a owl:Class ; rdfs:label "juvenile glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_10685 obo:IAO_0000115 "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10685"^^xsd:string ; a owl:Class ; rdfs:label "separation anxiety disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_10686 obo:IAO_0000115 "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N64.89"^^xsd:string, "ICD9CM:611.5"^^xsd:string, "MESH:C535998"^^xsd:string, "NCI:C3515"^^xsd:string, "SNOMEDCT_US_2021_03_01:42385006"^^xsd:string, "UMLS_CUI:C0152243"^^xsd:string ; oboInOwl:hasExactSynonym "Galactocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10686"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lactocele"^^xsd:string ; rdfs:subClassOf obo:DOID_10350 . obo:DOID_10688 obo:IAO_0000115 "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N62"^^xsd:string, "ICD9CM:611.1"^^xsd:string, "NCI:C3125"^^xsd:string, "SNOMEDCT_US_2021_03_01:43336006"^^xsd:string, "UMLS_CUI:C0020565"^^xsd:string ; oboInOwl:hasExactSynonym "breasts enlarged"@en, "large breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10688"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertrophy of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10689 oboInOwl:hasExactSynonym "GALACTORRHEA"@en, "Galactorrhea due to non-obstetric cause (disorder)"@en, "Galactorrhea not associated with childbirth (disorder)"@en, "Galactorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10689"^^xsd:string ; a owl:Class ; rdfs:label "obsolete galactorrhea not associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_10690 obo:IAO_0000115 "A breast disease characterized by painful infection of the breast tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008413"^^xsd:string, "NCI:C53662"^^xsd:string, "SNOMEDCT_US_2021_03_01:155952005"^^xsd:string, "UMLS_CUI:C0024894"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory breast disease"@en, "Inflammatory disease of breast"@en, "breast inflammation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10690"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mastitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10691 obo:IAO_0000115 "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N64.1"^^xsd:string, "ICD9CM:611.3"^^xsd:string, "NCI:C3661"^^xsd:string, "SNOMEDCT_US_2021_03_01:21381006"^^xsd:string, "UMLS_CUI:C0156321"^^xsd:string ; oboInOwl:hasExactSynonym "breast Fat necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fat necrosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10697 oboInOwl:hasDbXref "ICD9CM:360.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:193269007"^^xsd:string, "UMLS_CUI:C0154774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10697"^^xsd:string ; a owl:Class ; rdfs:label "chronic endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9724 . obo:DOID_10699 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected."^^xsd:string ; oboInOwl:hasDbXref "GARD:9815"^^xsd:string, "ICD10CM:B66.4"^^xsd:string, "ICD9CM:121.2"^^xsd:string, "MESH:D010237"^^xsd:string, "NCI:C84995"^^xsd:string, "SNOMEDCT_US_2021_03_01:30369007"^^xsd:string, "UMLS_CUI:C0030424"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Paragonimus"@en, "lung fluke disease"@en, "lung fluke infection"@en, "pulmonary paragonimiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paragonimiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2529, obo:DOID_409, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_34503 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1070 obo:IAO_0000115 "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.11"^^xsd:string, "ICD9CM:365.11"^^xsd:string, "MESH:D005902"^^xsd:string, "NCI:C35394"^^xsd:string, "OMIM:137760"^^xsd:string, "SNOMEDCT_US_2021_03_01:77075001"^^xsd:string, "UMLS_CUI:C0339573"^^xsd:string ; oboInOwl:hasExactSynonym "chronic simple glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1070"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "primary open angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1067 . obo:DOID_10708 oboInOwl:hasExactSynonym "Passive-aggressive personality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "passive-aggressive personality disorder"@en ; oboInOwl:id "DOID:10708"^^xsd:string ; a owl:Class ; rdfs:label "obsolete passive-aggressive personality disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10717 oboInOwl:hasExactSynonym "Meningococcal septicaemia"@en, "Meningococcemia"@en, "Meningococcemia (disorder)"@en, "Meningococcemia, unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10717"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_10718 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A07.1"^^xsd:string, "ICD9CM:007.1"^^xsd:string, "MEDDRA:0017536"^^xsd:string, "MESH:D005873"^^xsd:string, "SNOMEDCT_US_2021_03_01:266176008"^^xsd:string, "UMLS_CUI:C0017536"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Giardia lamblia"@en, "beaver feaver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10718"^^xsd:string ; a owl:Class ; rdfs:label "giardiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5741 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000420 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_10719 oboInOwl:hasDbXref "GARD:6549"^^xsd:string, "ICD9CM:242.00"^^xsd:string, "UMLS_CUI:C0154138"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10719"^^xsd:string ; a owl:Class ; rdfs:label "toxic diffuse goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_7998 . obo:DOID_1073 oboInOwl:hasDbXref "MESH:D006977"^^xsd:string, "NCI:C3121"^^xsd:string, "SNOMEDCT_US_2021_03_01:194775007"^^xsd:string, "UMLS_CUI:C0020544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1073"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_11130, obo:DOID_557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_10763 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_10731 obo:IAO_0000115 "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10731"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete nodular lung tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_1074 obo:IAO_0000115 "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N19"^^xsd:string, "ICD9CM:586"^^xsd:string, "MESH:D051437"^^xsd:string, "NCI:C4376"^^xsd:string, "SNOMEDCT_US_2021_03_01:42399005"^^xsd:string, "UMLS_CUI:C0035078"^^xsd:string ; oboInOwl:hasExactSynonym "renal failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "kidney failure"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_10742 oboInOwl:hasDbXref "ICD9CM:330.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:16517004"^^xsd:string, "UMLS_CUI:C0007788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10742"^^xsd:string ; a owl:Class ; rdfs:label "cerebral lipidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_10744 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the broad ligament."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.1"^^xsd:string, "ICD9CM:183.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93728003"^^xsd:string, "UMLS_CUI:C0346866"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of broad ligament of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10744"^^xsd:string ; a owl:Class ; rdfs:label "broad ligament malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012332 ] ) ] . obo:DOID_10747 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10747"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphoid leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_1075 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic pyelonephritis with lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_10754 obo:IAO_0000115 "A otitis which involves inflammation of the middle ear."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.9"^^xsd:string, "ICD9CM:382.9"^^xsd:string, "MESH:D010033"^^xsd:string, "NCI:C34885"^^xsd:string, "SNOMEDCT_US_2021_03_01:65363002"^^xsd:string, "UMLS_CUI:C0029882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10754"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_5100 . obo:DOID_10755 obo:IAO_0000115 "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14013"^^xsd:string, "DOID:14014"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H70.2"^^xsd:string, "ICD10CM:H70.21"^^xsd:string, "ICD10CM:H70.22"^^xsd:string, "ICD9CM:383.2"^^xsd:string, "ICD9CM:383.21"^^xsd:string, "ICD9CM:383.22"^^xsd:string, "MESH:D059270"^^xsd:string, "SNOMEDCT_US_2021_03_01:155233009"^^xsd:string, "SNOMEDCT_US_2021_03_01:28593007"^^xsd:string, "SNOMEDCT_US_2021_03_01:51211002"^^xsd:string, "UMLS_CUI:C0155448"^^xsd:string, "UMLS_CUI:C0155449"^^xsd:string, "UMLS_CUI:C0155450"^^xsd:string ; oboInOwl:hasExactSynonym "acute petrositis"@en, "chronic petrositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "inflammation of petrous bone"@en ; oboInOwl:id "DOID:10755"^^xsd:string ; a owl:Class ; rdfs:label "petrositis"^^xsd:string ; rdfs:subClassOf obo:DOID_1019 . obo:DOID_1076 oboInOwl:hasDbXref "ICD10CM:N11"^^xsd:string, "ICD9CM:590.0"^^xsd:string, "NCI:C123216"^^xsd:string, "SNOMEDCT_US_2021_03_01:123293005"^^xsd:string, "UMLS_CUI:C0085697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_11400 . obo:DOID_10760 oboInOwl:hasExactSynonym "Choroidal rupture (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10760"^^xsd:string ; a owl:Class ; rdfs:label "obsolete choroidal rupture"^^xsd:string ; owl:deprecated true . obo:DOID_10762 oboInOwl:hasDbXref "GARD:8229"^^xsd:string, "ICD10CM:K76.6"^^xsd:string, "ICD9CM:572.3"^^xsd:string, "MESH:D006975"^^xsd:string, "NCI:C3119"^^xsd:string, "SNOMEDCT_US_2021_03_01:155821005"^^xsd:string, "UMLS_CUI:C0020541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10762"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "portal hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_10763 obo:IAO_0000115 "An artery disease characterized by chronic elevated blood pressure in the arteries."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000537"^^xsd:string, "ICD10CM:I10"^^xsd:string, "ICD9CM:401-405.99"^^xsd:string, "MESH:D006973"^^xsd:string, "NCI:C3117"^^xsd:string, "SNOMEDCT_US_2021_03_01:38341003"^^xsd:string, "UMLS_CUI:C0020538"^^xsd:string ; oboInOwl:hasExactSynonym "HTN"@en, "High blood pressure"@en, "hyperpiesia"@en, "vascular hypertensive disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hypertensive disease"@en ; oboInOwl:id "DOID:10763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_10764 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10764"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liver abscess and sequelae of chronic liver disease"^^xsd:string ; owl:deprecated true . obo:DOID_1077 obo:IAO_0000115 "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11679"^^xsd:string ; oboInOwl:hasExactSynonym "filarial infectious disease and dracontiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Spirurida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10772 oboInOwl:hasDbXref "GARD:9430"^^xsd:string, "ICD10CM:M31.1"^^xsd:string, "MESH:D011697"^^xsd:string, "NCI:C78797"^^xsd:string, "OMIM:274150"^^xsd:string, "SNOMEDCT_US_2021_03_01:360402008"^^xsd:string, "UMLS_CUI:C0034155"^^xsd:string ; oboInOwl:hasExactSynonym "Moschcowitz's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10772"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thrombotic thrombocytopenic purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_10773 obo:IAO_0000115 "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050068"^^xsd:string ; oboInOwl:hasDbXref "GARD:183"^^xsd:string, "ICD10CM:A20.0"^^xsd:string, "ICD9CM:020.0"^^xsd:string, "MESH:D010930"^^xsd:string, "SNOMEDCT_US_2021_03_01:50797007"^^xsd:string, "UMLS_CUI:C0282312"^^xsd:string ; oboInOwl:hasExactSynonym "black death"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10773"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "bubonic plague"^^xsd:string ; rdfs:subClassOf obo:DOID_3482, obo:DOID_9942, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000116 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] . obo:DOID_10774 oboInOwl:hasExactSynonym "cellulocutaneous plague"@en, "cellulocutaneous plague (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10774"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous plague"^^xsd:string ; owl:deprecated true . obo:DOID_10778 oboInOwl:hasDbXref "ICD10CM:I40.1"^^xsd:string, "ICD9CM:422.91"^^xsd:string, "SNOMEDCT_US_2021_03_01:194954007"^^xsd:string, "UMLS_CUI:C0155689"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic myocarditis"@en, "Isolated (Fiedler's) myocarditis"@en, "fiedler myocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10778"^^xsd:string ; a owl:Class ; rdfs:label "fiedler's myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3951, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_10779 obo:IAO_0000115 "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I40.0"^^xsd:string, "ICD9CM:422.92"^^xsd:string, "SNOMEDCT_US_2021_03_01:64043005"^^xsd:string, "UMLS_CUI:C0155690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10779"^^xsd:string ; a owl:Class ; rdfs:label "septic myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3951, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_1078 obo:IAO_0000115 "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4192"^^xsd:string ; oboInOwl:hasExactSynonym "secernentea infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1078"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chromadorea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10780 obo:IAO_0000115 "A polycythemia that_has_material_basis in factors intrinsic to red cell precursors."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.0"^^xsd:string, "ICD9CM:289.6"^^xsd:string, "NCI:C26955"^^xsd:string, "OMIM:PS133100"^^xsd:string, "SNOMEDCT_US_2021_03_01:267571003"^^xsd:string, "UMLS_CUI:C0152264"^^xsd:string ; oboInOwl:hasExactSynonym "Familiar Polycythemia"@en, "familial erythrocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10780"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "primary polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_10782 oboInOwl:hasDbXref "ICD10CM:I88.0"^^xsd:string, "ICD9CM:289.2"^^xsd:string, "MESH:D008640"^^xsd:string, "NCI:C26830"^^xsd:string, "SNOMEDCT_US_2021_03_01:191376006"^^xsd:string, "UMLS_CUI:C0025469"^^xsd:string ; oboInOwl:hasExactSynonym "Mesenteric adenitis"@en, "Mesenteric lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesenteric lymphadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_10783 oboInOwl:hasDbXref "ICD10CM:D74"^^xsd:string, "ICD9CM:289.7"^^xsd:string, "MESH:D008708"^^xsd:string, "NCI:C34817"^^xsd:string, "SNOMEDCT_US_2021_03_01:191386007"^^xsd:string, "UMLS_CUI:C0025637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10783"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "methemoglobinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2860 . obo:DOID_10784 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050038"^^xsd:string ; oboInOwl:hasExactSynonym "Australian tick typhus"@en, "Rickettsia australis spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "North Queensland tick typhus"@en ; oboInOwl:id "DOID:10784"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Queensland tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_787 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_65647 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_10787 obo:IAO_0000115 "An ovarian dysfunction that is the loss of normal ovarian function before age 40."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E28.31"^^xsd:string, "ICD9CM:256.31"^^xsd:string, "MESH:D008594"^^xsd:string, "NCI:C80099"^^xsd:string, "SNOMEDCT_US_2021_03_01:154713003"^^xsd:string, "UMLS_CUI:C0025322"^^xsd:string ; oboInOwl:hasExactSynonym "Menopause - premature"@en, "Menopause praecox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10787"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "premature menopause"^^xsd:string ; rdfs:subClassOf obo:DOID_1414 . obo:DOID_10788 oboInOwl:hasExactSynonym "Focal sclerosing osteomyelitis"@en, "Sclerosing osteitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10788"^^xsd:string ; a owl:Class ; rdfs:label "obsolete osteitis condensans"^^xsd:string ; owl:deprecated true . obo:DOID_1079 obo:IAO_0000115 "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012719"^^xsd:string, "SNOMEDCT_US_2021_03_01:4414005"^^xsd:string, "UMLS_CUI:C0036850"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious Disease by Setaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1079"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "setariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080 . obo:DOID_10790 obo:IAO_0000115 "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.1"^^xsd:string, "ICD9CM:473.1"^^xsd:string, "NCI:C34473"^^xsd:string, "SNOMEDCT_US_2021_03_01:155527004"^^xsd:string, "UMLS_CUI:C0008683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10790"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic frontal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10791 . obo:DOID_10791 obo:IAO_0000115 "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.1"^^xsd:string, "MESH:D015522"^^xsd:string, "NCI:C34626"^^xsd:string, "SNOMEDCT_US_2021_03_01:275485006"^^xsd:string, "UMLS_CUI:C0016735"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_10792 obo:IAO_0000115 "A maxillary sinusitis which lasts for 12 weeks or more."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.0"^^xsd:string, "ICD9CM:473.0"^^xsd:string, "NCI:C34477"^^xsd:string, "SNOMEDCT_US_2021_03_01:195785003"^^xsd:string, "UMLS_CUI:C0008698"^^xsd:string ; oboInOwl:hasExactSynonym "chronic antritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10792"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic maxillary sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2051 . obo:DOID_10793 obo:IAO_0000115 "A sphenoid sinusitis which lasts for 12 weeks or more."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.3"^^xsd:string, "ICD9CM:473.3"^^xsd:string, "NCI:C34480"^^xsd:string, "SNOMEDCT_US_2021_03_01:155528009"^^xsd:string, "UMLS_CUI:C0008712"^^xsd:string ; oboInOwl:hasExactSynonym "Sphenoidal sinus-chr."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10793"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic sphenoidal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10794 . obo:DOID_10794 obo:IAO_0000115 "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.3"^^xsd:string, "MESH:D015524"^^xsd:string, "NCI:C35031"^^xsd:string, "SNOMEDCT_US_2021_03_01:13266007"^^xsd:string, "UMLS_CUI:C0037886"^^xsd:string ; oboInOwl:hasExactSynonym "Sphenoidal sinusitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10794"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoid sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_10795 oboInOwl:hasExactSynonym "Congenital syphilitic encephalitis (disorder)"@en, "Encephalitis due to congenital syphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10795"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete congenital syphilitic encephalitis"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_1080 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B74"^^xsd:string, "ICD9CM:125.9"^^xsd:string, "MESH:D005368"^^xsd:string, "NCI:C34611"^^xsd:string, "SNOMEDCT_US_2021_03_01:50342004"^^xsd:string, "UMLS_CUI:C0016085"^^xsd:string ; oboInOwl:hasExactSynonym "disease due to superfamily Filarioidea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "filariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6295 ] ; skos:exactMatch "MESH:D005368"^^xsd:string . obo:DOID_10802 oboInOwl:hasDbXref "ICD9CM:098.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:186912008"^^xsd:string, "UMLS_CUI:C0153193"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal epididymo-orchitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10802"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal epididymo-orchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9401 . obo:DOID_10803 oboInOwl:hasExactSynonym "Haemophilus meningitis (disorder)"@en, "Hemophilus meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10803"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10808 oboInOwl:hasAlternativeId "DOID:10807"^^xsd:string, "DOID:10809"^^xsd:string, "DOID:12047"^^xsd:string, "DOID:12057"^^xsd:string, "DOID:12068"^^xsd:string, "DOID:12069"^^xsd:string, "DOID:12806"^^xsd:string, "DOID:13124"^^xsd:string, "DOID:13125"^^xsd:string, "DOID:241"^^xsd:string, "DOID:242"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K25"^^xsd:string, "ICD9CM:531"^^xsd:string, "MESH:D013276"^^xsd:string, "NCI:C3388"^^xsd:string, "SNOMEDCT_US_2021_03_01:155681009"^^xsd:string, "UMLS_CUI:C0038358"^^xsd:string ; oboInOwl:hasExactSynonym "acute gastric ulcer with haemorrhage and perforation"@en, "acute gastric ulcer with hemorrhage AND obstruction"@en, "acute gastric ulcer with hemorrhage AND perforation"@en, "acute gastric ulcer with hemorrhage AND with perforation but without obstruction"@en, "acute gastric ulcer with hemorrhage and obstruction"@en, "acute gastric ulcer with hemorrhage and perforation"@en, "acute gastric ulcer with hemorrhage and perforation, with obstruction"@en, "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction"@en, "acute gastric ulcer with hemorrhage, with obstruction"@en, "acute gastric ulcer with hemorrhage, with perforation AND with obstruction"@en, "acute gastric ulcer with perforation"@en, "acute gastric ulcer with perforation AND obstruction"@en, "acute gastric ulcer with perforation, with obstruction"@en, "acute gastric ulcer without hemorrhage and without perforation"@en, "acute gastric ulcer without hemorrhage, without perforation AND without obstruction"@en, "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en, "bleeding acute gastric ulcer"@en, "chronic gastric ulcer without hemorrhage AND without perforation"@en, "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction"@en, "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10808"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_1081 obo:IAO_0000115 "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies."^^xsd:string ; oboInOwl:hasDbXref "GARD:8216"^^xsd:string, "ICD10CM:B74.4"^^xsd:string, "MESH:D008368"^^xsd:string, "NCI:C84882"^^xsd:string, "SNOMEDCT_US_2021_03_01:240849009"^^xsd:string, "UMLS_CUI:C0024759"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mansonelliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_10810 oboInOwl:hasDbXref "ICD9CM:726.72"^^xsd:string, "SNOMEDCT_US_2021_03_01:50127006"^^xsd:string, "UMLS_CUI:C0158321"^^xsd:string ; oboInOwl:hasExactSynonym "Tibialis tendinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10810"^^xsd:string ; a owl:Class ; rdfs:label "tibialis tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_971 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_971 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008230 ] ) ] . obo:DOID_10811 obo:IAO_0000115 "A respiratory system cancer that is located_in the nasal cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C30.0"^^xsd:string, "ICD9CM:160.0"^^xsd:string, "NCI:C4918"^^xsd:string, "SNOMEDCT_US_2021_03_01:93917007"^^xsd:string, "UMLS_CUI:C0728864"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of nasal cavities"@en, "malignant tumor of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10811"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "nasal cavity cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_2163 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_10812 oboInOwl:hasDbXref "NCI:C7604"^^xsd:string, "UMLS_CUI:C1334923"^^xsd:string ; oboInOwl:hasExactSynonym "Olfactory neuroblastoma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity olfactory neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10811, obo:DOID_369 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_369 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_10813 oboInOwl:hasDbXref "NCI:C6074"^^xsd:string, "UMLS_CUI:C1334921"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the nasal cavity"@en, "lymphoma of nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10811, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10815 oboInOwl:hasExactSynonym "recurrent malignant Duodenal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent duodenal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10816 obo:IAO_0000115 "A duodenum cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7889"^^xsd:string, "SNOMEDCT_US_2021_03_01:408644002"^^xsd:string, "UMLS_CUI:C0278804"^^xsd:string ; oboInOwl:hasExactSynonym "Duodenal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10816"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenum adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10021, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_10817 oboInOwl:hasDbXref "ICD10CM:F65.52"^^xsd:string, "ICD9CM:302.84"^^xsd:string, "MESH:D012448"^^xsd:string, "NCI:C94358"^^xsd:string, "SNOMEDCT_US_2021_03_01:59394009"^^xsd:string, "UMLS_CUI:C0036913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sexual sadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_10818 oboInOwl:hasExactSynonym "Aseptic leptospiral meningitis"@en, "Aseptic leptospiral meningitis (disorder)"@en, "Leptospiral meningitis (aseptic)"@en, "Leptospiral meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10818"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete leptospiral meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_1082 obo:IAO_0000115 "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:11908"^^xsd:string, "ICD10CM:B74.8"^^xsd:string, "MESH:D004184"^^xsd:string, "SNOMEDCT_US_2021_03_01:73328005"^^xsd:string, "UMLS_CUI:C0012602"^^xsd:string ; oboInOwl:hasExactSynonym "Dirofilaria infectious disease"@en, "Infection by Dirofilaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1082"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dirofilariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, obo:DOID_850, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_10823 oboInOwl:hasDbXref "ICD9CM:401.0"^^xsd:string, "NCI:C34802"^^xsd:string, "SNOMEDCT_US_2021_03_01:78975002"^^xsd:string, "UMLS_CUI:C0024588"^^xsd:string ; oboInOwl:hasExactSynonym "Accelerated essential hypertension"@en, "malignant Essential hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10823"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10825 . obo:DOID_10824 obo:IAO_0000115 "A hypertension that is characterized by rapid onset of extremely high blood pressure."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006974"^^xsd:string, "NCI:C3118"^^xsd:string, "SNOMEDCT_US_2021_03_01:155301003"^^xsd:string, "UMLS_CUI:C0020540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10824"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10825 obo:IAO_0000115 "A hypertension with no known cause. It is the most common type of hypertension."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I10"^^xsd:string, "ICD9CM:401"^^xsd:string, "MESH:D000075222"^^xsd:string, "NCI:C3478"^^xsd:string, "OMIM:145500"^^xsd:string, "OMIM:603918"^^xsd:string, "OMIM:604329"^^xsd:string, "OMIM:607329"^^xsd:string, "OMIM:608742"^^xsd:string, "OMIM:610261"^^xsd:string, "OMIM:610262"^^xsd:string, "OMIM:610948"^^xsd:string, "OMIM:611014"^^xsd:string, "ORDO:243761"^^xsd:string, "SNOMEDCT_US_2021_03_01:194757006"^^xsd:string, "UMLS_CUI:C0085580"^^xsd:string ; oboInOwl:hasExactSynonym "idiopathic hypertension"@en, "primary hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10825"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10827 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10827"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gender identity disorder in adolescent or adult"^^xsd:string ; owl:deprecated true . obo:DOID_10834 oboInOwl:hasDbXref "ICD10CM:F65.3"^^xsd:string, "ICD9CM:302.82"^^xsd:string, "MESH:D014843"^^xsd:string, "NCI:C94360"^^xsd:string, "SNOMEDCT_US_2021_03_01:192515002"^^xsd:string, "UMLS_CUI:C0042979"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10834"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "voyeurism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_10835 oboInOwl:hasDbXref "ICD9CM:608.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:7864001"^^xsd:string, "UMLS_CUI:C0156315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10835"^^xsd:string ; a owl:Class ; rdfs:label "chylocele of tunica vaginalis"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_10836 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus with hyperosmolarity"^^xsd:string ; owl:deprecated true . obo:DOID_10837 oboInOwl:hasExactSynonym "Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled"@en, "Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled"^^xsd:string ; owl:deprecated true . obo:DOID_10838 oboInOwl:hasExactSynonym "Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled"@en, "Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10838"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled"^^xsd:string ; owl:deprecated true . obo:DOID_10841 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma."^^xsd:string ; oboInOwl:hasDbXref "GARD:10821"^^xsd:string, "ICD10CM:A83.2"^^xsd:string, "ICD9CM:062.2"^^xsd:string, "MESH:D020242"^^xsd:string, "SNOMEDCT_US_2021_03_01:40177004"^^xsd:string, "UMLS_CUI:C0153065"^^xsd:string ; oboInOwl:hasExactSynonym "Neuroinvasive Eastern equine encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "EEE"@en ; oboInOwl:id "DOID:10841"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Eastern equine encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10842 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.4"^^xsd:string, "ICD9CM:062.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:66454007"^^xsd:string, "UMLS_CUI:C0153066"^^xsd:string ; oboInOwl:hasExactSynonym "Australian X disease"@en, "Australian encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10842"^^xsd:string ; a owl:Class ; rdfs:label "Murray Valley encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11079 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_162997 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10843 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness."^^xsd:string ; oboInOwl:hasDbXref "GARD:7888"^^xsd:string, "ICD10CM:A83.1"^^xsd:string, "ICD9CM:062.1"^^xsd:string, "MESH:D020241"^^xsd:string, "NCI:C85227"^^xsd:string, "SNOMEDCT_US_2021_03_01:47523006"^^xsd:string, "UMLS_CUI:C0153064"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "WEE"@en ; oboInOwl:id "DOID:10843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Western equine encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11039 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10844 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:6797"^^xsd:string, "ICD10CM:A83.0"^^xsd:string, "ICD9CM:062.0"^^xsd:string, "MESH:D004672"^^xsd:string, "NCI:C34577"^^xsd:string, "SNOMEDCT_US_2021_03_01:266194002"^^xsd:string, "UMLS_CUI:C0014057"^^xsd:string ; oboInOwl:hasExactSynonym "Japanese B encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Japanese encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11072 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10845 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.3"^^xsd:string, "ICD9CM:062.3"^^xsd:string, "MESH:D004674"^^xsd:string, "SNOMEDCT_US_2021_03_01:10429004"^^xsd:string, "UMLS_CUI:C0014060"^^xsd:string ; oboInOwl:hasExactSynonym "Neuroinvasive St. Louis encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10845"^^xsd:string ; a owl:Class ; rdfs:label "St. Louis encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11080 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ] . obo:DOID_10846 oboInOwl:hasDbXref "ICD9CM:569.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:235853006"^^xsd:string, "UMLS_CUI:C0267367"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10846"^^xsd:string ; a owl:Class ; rdfs:label "angiodysplasia of intestine"^^xsd:string ; rdfs:subClassOf obo:DOID_2494, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2494 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_10848 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10848"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intrauterine hypoxia and birth asphyxia"^^xsd:string ; owl:deprecated true . obo:DOID_10849 oboInOwl:hasDbXref "ICD10CM:F65.51"^^xsd:string, "ICD9CM:302.83"^^xsd:string, "MESH:D008398"^^xsd:string, "NCI:C94356"^^xsd:string, "SNOMEDCT_US_2021_03_01:248104007"^^xsd:string, "UMLS_CUI:C0036908"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sexual masochism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_1085 obo:IAO_0000115 "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:758.2"^^xsd:string, "MESH:D000073842"^^xsd:string, "NCI:C101362"^^xsd:string, "SNOMEDCT_US_2021_03_01:51500006"^^xsd:string, "UMLS_CUI:C0152096"^^xsd:string ; oboInOwl:hasExactSynonym "Complete trisomy 18 syndrome"@en, "E3 Trisomy"@en, "trisomy 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1085"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Edwards syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_10852 obo:IAO_0000115 "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:385.82"^^xsd:string, "NCI:C3655"^^xsd:string, "SNOMEDCT_US_2021_03_01:28371001"^^xsd:string, "UMLS_CUI:C0155492"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesterin granuloma"@en, "Cholesterin granuloma of middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear cholesterol granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_10854 obo:IAO_0000115 "A mouth disease located_in the salivary gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12898"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:527.8"^^xsd:string, "UMLS_CUI:C0029773"^^xsd:string ; oboInOwl:hasExactSynonym "Non-neoplastic Salivary gland disease"@en, "Salivary gland disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10854"^^xsd:string ; a owl:Class ; rdfs:label "salivary gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] ) ] . obo:DOID_1086 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital chromosomal disease"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10863 oboInOwl:hasDbXref "ICD10CM:H49"^^xsd:string, "ICD9CM:378.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:12942001"^^xsd:string, "UMLS_CUI:C0152221"^^xsd:string ; oboInOwl:hasExactSynonym "Incomitant dissociation"@en, "Paralytic strabismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10863"^^xsd:string ; a owl:Class ; rdfs:label "paralytic squint"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_10864 oboInOwl:hasDbXref "ICD9CM:378.51"^^xsd:string, "MESH:D015840"^^xsd:string, "SNOMEDCT_US_2021_03_01:194118007"^^xsd:string, "UMLS_CUI:C0271370"^^xsd:string ; oboInOwl:hasExactSynonym "Partial third nerve palsy"@en, "Third nerve palsy with pupil sparing"@en, "Third or oculomotor nerve palsy, partial"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10864"^^xsd:string ; a owl:Class ; rdfs:label "partial third-nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10865 oboInOwl:hasDbXref "GARD:9482"^^xsd:string, "MESH:D020434"^^xsd:string, "NCI:C27593"^^xsd:string, "OMIM:100200"^^xsd:string, "SNOMEDCT_US_2021_03_01:82373004"^^xsd:string, "UMLS_CUI:C0271355"^^xsd:string ; oboInOwl:hasExactSynonym "Abducens nerve weakness"@en, "Lateral rectus muscle denervation paresis"@en, "Lateral rectus muscle innervation disorder"@en, "Sixth cranial nerve disorder"@en, "Sixth nerve palsy"@en, "Sixth or abducens nerve palsy"@en, "VIth nerve Paralysis"@en, "VIth nerve disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "abducens nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3817 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001646 ] ) ] . obo:DOID_10866 oboInOwl:hasDbXref "ICD9CM:378.52"^^xsd:string, "MESH:D015840"^^xsd:string, "SNOMEDCT_US_2021_03_01:194119004"^^xsd:string, "UMLS_CUI:C0271371"^^xsd:string ; oboInOwl:hasExactSynonym "Third nerve palsy with pupil involved"@en, "Third or oculomotor nerve palsy, total"@en, "Total third nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10866"^^xsd:string ; a owl:Class ; rdfs:label "total third-nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10869 oboInOwl:hasExactSynonym "Fourth nerve palsy"@en, "Fourth or trochlear nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10869"^^xsd:string ; a owl:Class ; rdfs:label "fourth cranial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10871 obo:IAO_0000115 "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001365"^^xsd:string, "ICD10CM:H35.30"^^xsd:string, "ICD9CM:362.50"^^xsd:string, "MESH:D008268"^^xsd:string, "NCI:C84391"^^xsd:string, "OMIM:PS603075"^^xsd:string, "SNOMEDCT_US_2021_03_01:18222007"^^xsd:string, "UMLS_CUI:C0242383"^^xsd:string ; oboInOwl:hasExactSynonym "Age Related Maculopathies"@en, "Age Related Maculopathy"@en, "Senile macular degeneration"@en, "Senile macular retinal degeneration"@en, "age-related macular degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10871"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "age related macular degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2007, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10873 oboInOwl:hasDbXref "ICD10CM:H35.32"^^xsd:string, "ICD9CM:362.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:11290001"^^xsd:string, "UMLS_CUI:C0271084"^^xsd:string ; oboInOwl:hasExactSynonym "Exudative senile macular degeneration of retina"@en, "Neovascular age-related macular degeneration"@en, "Senile macular degeneration, wet"@en, "Wet senile macular retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10873"^^xsd:string ; a owl:Class ; rdfs:label "Kuhnt-Junius degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_10875 oboInOwl:hasExactSynonym "LABOR PREMATURE"@en, "Labour - premature"@en, "Premature labor (finding)"@en, "Premature labour"@en, "premature labor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10875"^^xsd:string ; a owl:Class ; rdfs:label "obsolete premature labor"^^xsd:string ; owl:deprecated true . obo:DOID_10877 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10877"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1088 obo:IAO_0000115 "A spina bifida that is characterized by herniation of the meninges between the vertebrae."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:268308005"^^xsd:string, "UMLS_CUI:C0025299"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1088"^^xsd:string ; a owl:Class ; rdfs:label "meningocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016 ; skos:exactMatch "MESH:D008588"^^xsd:string . obo:DOID_10880 oboInOwl:hasDbXref "ICD10CM:I80.21"^^xsd:string, "ICD9CM:451.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:840713005"^^xsd:string, "UMLS_CUI:C0155772"^^xsd:string ; oboInOwl:hasExactSynonym "Phlebitis and thrombophlebitis of the iliac vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10880"^^xsd:string ; a owl:Class ; rdfs:label "iliac vein thrombophlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3875 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3875 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005610 ] ) ] . obo:DOID_10881 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.4"^^xsd:string, "ICD9CM:074.3"^^xsd:string, "MESH:D006232"^^xsd:string, "NCI:C128439"^^xsd:string, "SNOMEDCT_US_2021_03_01:175497008"^^xsd:string, "UMLS_CUI:C0018572"^^xsd:string ; oboInOwl:hasExactSynonym "Vesicular stomatitis and exanthem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10881"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hand, foot and mouth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_31704 obo:NCBITaxon_39054 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000165 obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_10882 obo:IAO_0000115 "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B33.0"^^xsd:string, "ICD9CM:074.1"^^xsd:string, "MESH:D011000"^^xsd:string, "SNOMEDCT_US_2021_03_01:83264000"^^xsd:string, "UMLS_CUI:C0032238"^^xsd:string ; oboInOwl:hasExactSynonym "Bamble disease"@en, "Bornholm disease"@en, "Epidemic pleurisy"@en, "Epidemic, myositis"@en, "devil's grip"@en, "epidemic myalgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10882"^^xsd:string ; a owl:Class ; rdfs:label "epidemic pleurodynia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_138949 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] . obo:DOID_10883 obo:IAO_0000115 "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.5"^^xsd:string, "ICD9CM:074.0"^^xsd:string, "MESH:D006557"^^xsd:string, "SNOMEDCT_US_2021_03_01:154358007"^^xsd:string, "UMLS_CUI:C0019338"^^xsd:string ; oboInOwl:hasExactSynonym "Vesicular pharyngitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10883"^^xsd:string ; a owl:Class ; rdfs:label "herpangina"^^xsd:string ; rdfs:subClassOf obo:DOID_403, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_31704 obo:NCBITaxon_39054 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 obo:TRANS_0000012 ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_10887 obo:IAO_0000115 "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.5"^^xsd:string, "ICD9CM:030.0"^^xsd:string, "MESH:D015440"^^xsd:string, "SNOMEDCT_US_2021_03_01:21560005"^^xsd:string, "UMLS_CUI:C0023348"^^xsd:string ; oboInOwl:hasExactSynonym "Lepromatous leprosy"@en, "type L leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10887"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "lepromatous leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_1089 oboInOwl:hasDbXref "GARD:4018"^^xsd:string, "SNOMEDCT_US_2021_03_01:282784007"^^xsd:string, "UMLS_CUI:C0560648"^^xsd:string ; oboInOwl:hasExactSynonym "spinal dysraphism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1089"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tethered spinal cord syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_319 ; skos:exactMatch "NCI:C99080"^^xsd:string . obo:DOID_10892 obo:IAO_0000115 "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q54"^^xsd:string, "MESH:D007021"^^xsd:string, "NCI:C40341"^^xsd:string, "OMIM:146450"^^xsd:string, "OMIM:300633"^^xsd:string, "OMIM:300758"^^xsd:string, "OMIM:300856"^^xsd:string, "ORDO:440"^^xsd:string, "SNOMEDCT_US_2021_03_01:156968008"^^xsd:string, "UMLS_CUI:C0848558"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypospadias"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10892"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypospadias"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_10901 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb"@en, "Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)"@en, "Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10901"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_10902 obo:IAO_0000115 "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary actinomycotic infection"@en, "thoracic actinomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10902"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_10907 obo:IAO_0000115 "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants."^^xsd:string ; oboInOwl:hasDbXref "GARD:3603"^^xsd:string, "GARD:7038"^^xsd:string, "ICD10CM:Q02"^^xsd:string, "ICD9CM:742.1"^^xsd:string, "MESH:D008831"^^xsd:string, "NCI:C85874"^^xsd:string, "SNOMEDCT_US_2021_03_01:156893009"^^xsd:string, "UMLS_CUI:C0025958"^^xsd:string ; oboInOwl:hasExactSynonym "Microcephalus"@en, "microencephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10907"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 ; skos:exactMatch "MESH:D008831"^^xsd:string . obo:DOID_10908 obo:IAO_0000115 "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head."^^xsd:string ; oboInOwl:hasDbXref "GARD:6682"^^xsd:string, "ICD10CM:G91"^^xsd:string, "MESH:D006849"^^xsd:string, "NCI:C3111"^^xsd:string, "OMIM:123155"^^xsd:string, "OMIM:236600"^^xsd:string, "OMIM:236635"^^xsd:string, "OMIM:307000"^^xsd:string, "OMIM:615219"^^xsd:string, "ORDO:2182"^^xsd:string, "ORDO:2185"^^xsd:string, "SNOMEDCT_US_2021_03_01:267687006"^^xsd:string, "UMLS_CUI:C0020255"^^xsd:string ; oboInOwl:hasExactSynonym "hydrocephalus, X-linked"@en, "hydrocephalus, nonsyndromic, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10908"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hydrocephalus"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_1091 obo:IAO_0000115 "A mouth disease located_in the teeth."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014076"^^xsd:string, "SNOMEDCT_US_2021_03_01:72722003"^^xsd:string, "UMLS_CUI:C0040435"^^xsd:string ; oboInOwl:hasExactSynonym "teeth disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1091"^^xsd:string ; a owl:Class ; rdfs:label "tooth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001091 ] ) ] . obo:DOID_10910 obo:IAO_0000115 "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10910"^^xsd:string ; a owl:Class ; rdfs:label "obsolete echovirus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10911 obo:IAO_0000115 "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Enteric cytopathic human orphan virus infection"@en ; oboInOwl:id "DOID:10911"^^xsd:string ; a owl:Class ; rdfs:label "obsolete echovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10913 oboInOwl:hasDbXref "ICD9CM:401.1"^^xsd:string, "NCI:C3656"^^xsd:string, "SNOMEDCT_US_2021_03_01:194758001"^^xsd:string, "UMLS_CUI:C0155583"^^xsd:string ; oboInOwl:hasExactSynonym "benign Essential hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10825 . obo:DOID_10914 obo:IAO_0000115 "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4544"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R41.3"^^xsd:string, "ICD9CM:294.0"^^xsd:string, "MESH:D000647"^^xsd:string, "NCI:C2867"^^xsd:string, "SNOMEDCT_US_2021_03_01:247606008"^^xsd:string, "SNOMEDCT_US_2021_03_01:3298001"^^xsd:string, "UMLS_CUI:C0002622"^^xsd:string, "UMLS_CUI:C0002625"^^xsd:string ; oboInOwl:hasExactSynonym "Amnestic syndrome"@en, "Korsakoff's psychosis or syndrome"@en, "amnesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10914"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "amnestic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_10915 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020915"^^xsd:string, "NCI:C35764"^^xsd:string, "OMIM:277730"^^xsd:string, "SNOMEDCT_US_2021_03_01:69482004"^^xsd:string, "UMLS_CUI:C0349464"^^xsd:string ; oboInOwl:hasExactSynonym "Korsakoff Syndrome"@en, "Korsakoff's psychosis"@en, "Korsakoff's syndrome"@en, "Korsakov psychosis"@en, "Korsakov's psychosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10915"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wernicke-Korsakoff syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070313 . obo:DOID_10918 oboInOwl:hasExactSynonym "Trans-sexualism with asexual history"@en, "Transsexuality with asexual history (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10918"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexuality with asexual history"^^xsd:string ; owl:deprecated true . obo:DOID_10919 obo:IAO_0000115 "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:302.50"^^xsd:string, "SNOMEDCT_US_2021_03_01:191782007"^^xsd:string, "UMLS_CUI:C0040630"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10919"^^xsd:string ; a owl:Class ; rdfs:label "transsexualism"^^xsd:string ; rdfs:subClassOf obo:DOID_1234 . obo:DOID_10921 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050054"^^xsd:string, "DOID:0050055"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A77.2"^^xsd:string, "ICD9CM:082.2"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:7692008"^^xsd:string, "UMLS_CUI:C0549160"^^xsd:string ; oboInOwl:hasExactSynonym "North Asian tick fever"@en, "North Asian tick typhus"@en, "Rickettsia sibirica spotted fever"@en, "manchurian typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10921"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Siberian tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35793 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_49202 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_523089 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_10922 oboInOwl:hasExactSynonym "Hb-S disease with mention of crisis"@en, "Hemoglobin S disease with crisis (disorder)"@en, "Hemoglobin SS disease with crisis (disorder)"@en, "Sickle cell anemia with crisis (disorder)"@en, "sickle cell crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10922"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sickle-cell crisis"^^xsd:string ; owl:deprecated true . obo:DOID_10923 obo:IAO_0000115 "A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12924"^^xsd:string, "DOID:13024"^^xsd:string ; oboInOwl:hasDbXref "GARD:8614"^^xsd:string, "ICD10CM:D57.1"^^xsd:string, "ICD10CM:D57.2"^^xsd:string, "ICD9CM:282.6"^^xsd:string, "ICD9CM:282.63"^^xsd:string, "MESH:D000755"^^xsd:string, "MESH:D006450"^^xsd:string, "NCI:C34383"^^xsd:string, "NCI:C34676"^^xsd:string, "OMIM:603903"^^xsd:string, "ORDO:232"^^xsd:string, "SNOMEDCT_US_2021_03_01:154798006"^^xsd:string, "SNOMEDCT_US_2021_03_01:35434009"^^xsd:string, "UMLS_CUI:C0002895"^^xsd:string, "UMLS_CUI:C0019034"^^xsd:string ; oboInOwl:hasExactSynonym "Hb SC disease"@en, "Hb-S/Hb-C disease"@en, "Hb-SS disease without crisis"@en, "Hemoglobin S disease without crisis"@en, "Sickle-cell/Hb-C disease without crisis"@en, "drepanocytosis"@en, "haemoglobin SC disease"@en, "hemoglobin SC disease"@en, "sickle cell anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "sickle cell anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_620, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10924 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10924"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_10925 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10925"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10927 oboInOwl:hasAlternativeId "DOID:10926"^^xsd:string, "DOID:10928"^^xsd:string, "DOID:10929"^^xsd:string, "DOID:12230"^^xsd:string, "DOID:12232"^^xsd:string, "DOID:14085"^^xsd:string, "DOID:14137"^^xsd:string, "DOID:9522"^^xsd:string, "DOID:9523"^^xsd:string, "DOID:9524"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K28.0"^^xsd:string, "ICD9CM:534.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:196709002"^^xsd:string, "UMLS_CUI:C0156042"^^xsd:string ; oboInOwl:hasExactSynonym "acute gastrojejunal ulcer with hemorrhage"@en, "acute gastrojejunal ulcer with hemorrhage AND obstruction"@en, "acute gastrojejunal ulcer with hemorrhage AND perforation"@en, "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction"@en, "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction"@en, "acute gastrojejunal ulcer with perforation"@en, "acute gastrojejunal ulcer with perforation AND obstruction"@en, "acute gastrojejunal ulcer with perforation, with obstruction"@en, "acute gastrojejunal ulcer without hemorrhage AND without perforation"@en, "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"@en, "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en, "acute gastrojejunal ulcer, with hemorrhage, with obstruction"@en, "chronic gastrojejunal ulcer without hemorrhage AND without perforation"@en, "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"@en, "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10927"^^xsd:string ; a owl:Class ; rdfs:label "gastrojejunal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_10930 obo:IAO_0000115 "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.3"^^xsd:string, "ICD9CM:301.83"^^xsd:string, "MESH:D001883"^^xsd:string, "NCI:C92633"^^xsd:string, "SNOMEDCT_US_2021_03_01:20010003"^^xsd:string, "UMLS_CUI:C0006012"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "borderline personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10931 obo:IAO_0000115 "A personality disorder that is characterized by a pervasive psychological dependence on other people."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.7"^^xsd:string, "ICD9CM:301.6"^^xsd:string, "MESH:D003859"^^xsd:string, "NCI:C92637"^^xsd:string, "SNOMEDCT_US_2021_03_01:192492003"^^xsd:string, "UMLS_CUI:C0011548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10931"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dependent personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10932 obo:IAO_0000115 "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.5"^^xsd:string, "ICD9CM:301.4"^^xsd:string, "MESH:D003193"^^xsd:string, "NCI:C92638"^^xsd:string, "SNOMEDCT_US_2021_03_01:191761001"^^xsd:string, "UMLS_CUI:C0009595"^^xsd:string ; oboInOwl:hasExactSynonym "OCPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Anankastic personality disorder"@en ; oboInOwl:id "DOID:10932"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsessive-compulsive personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10933 obo:IAO_0000115 "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F42"^^xsd:string, "ICD9CM:300.3"^^xsd:string, "MESH:D009771"^^xsd:string, "NCI:C88411"^^xsd:string, "SNOMEDCT_US_2021_03_01:71478004"^^xsd:string, "UMLS_CUI:C0028768"^^xsd:string ; oboInOwl:hasExactSynonym "Anancastic neurosis"@en, "obsessive compulsive disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10933"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsessive-compulsive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_10934 obo:IAO_0000115 "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.81"^^xsd:string, "ICD9CM:300.14"^^xsd:string, "MESH:D009105"^^xsd:string, "NCI:C94330"^^xsd:string, "SNOMEDCT_US_2021_03_01:31611000"^^xsd:string, "UMLS_CUI:C0026773"^^xsd:string ; oboInOwl:hasExactSynonym "Dissociative identity disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_10935 obo:IAO_0000115 "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4963"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.9"^^xsd:string, "ICD10CM:F48.9"^^xsd:string, "ICD9CM:300.15"^^xsd:string, "ICD9CM:300.9"^^xsd:string, "MESH:D004213"^^xsd:string, "NCI:C92197"^^xsd:string, "SNOMEDCT_US_2021_03_01:154883004"^^xsd:string, "UMLS_CUI:C0012746"^^xsd:string, "UMLS_CUI:C0041857"^^xsd:string ; oboInOwl:hasExactSynonym "dissociative disease"@en, "dissociative reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10935"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dissociative disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_10936 obo:IAO_0000115 "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.1"^^xsd:string, "ICD9CM:301.2"^^xsd:string, "MESH:D012557"^^xsd:string, "NCI:C92631"^^xsd:string, "SNOMEDCT_US_2021_03_01:192486009"^^xsd:string, "UMLS_CUI:C0036339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizoid personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10937 obo:IAO_0000115 "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.9"^^xsd:string, "ICD9CM:312.30"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C34723"^^xsd:string, "SNOMEDCT_US_2021_03_01:192098008"^^xsd:string, "UMLS_CUI:C0021122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10937"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "impulse control disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_10938 obo:IAO_0000115 "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.0"^^xsd:string, "ICD9CM:301.0"^^xsd:string, "MESH:D010260"^^xsd:string, "NCI:C92630"^^xsd:string, "SNOMEDCT_US_2021_03_01:270529002"^^xsd:string, "UMLS_CUI:C0030477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10938"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranoid personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10939 obo:IAO_0000115 "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.2"^^xsd:string, "ICD9CM:301.7"^^xsd:string, "MESH:D000987"^^xsd:string, "NCI:C88413"^^xsd:string, "SNOMEDCT_US_2021_03_01:191769004"^^xsd:string, "UMLS_CUI:C0003431"^^xsd:string ; oboInOwl:hasExactSynonym "Asocial personality"@en, "Dissocial personality disorder"@en, "Psychopath.personality"@en, "Psychopathic personality"@en, "Psychopathic personality disorder"@en, "sociopathic personality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10939"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "antisocial personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_1094 obo:IAO_0000115 "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1093"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003888"^^xsd:string, "MESH:D001289"^^xsd:string, "OMIM:143465"^^xsd:string, "OMIM:608903"^^xsd:string, "OMIM:608904"^^xsd:string, "OMIM:608905"^^xsd:string, "OMIM:608906"^^xsd:string, "OMIM:612311"^^xsd:string, "OMIM:612312"^^xsd:string, "SNOMEDCT_US_2021_03_01:229713001"^^xsd:string, "UMLS_CUI:C0041671"^^xsd:string ; oboInOwl:hasExactSynonym "ADHD"@en, "attention deficit disorder"@en, "hyperkinetic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1094"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "attention deficit hyperactivity disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_10941 oboInOwl:hasDbXref "EFO:0003870"^^xsd:string, "MESH:D002532"^^xsd:string, "NCI:C34458"^^xsd:string, "SNOMEDCT_US_2021_03_01:128609009"^^xsd:string, "UMLS_CUI:C0007766"^^xsd:string ; oboInOwl:hasExactSynonym "brain aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10941"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_3527 . obo:DOID_10944 obo:IAO_0000115 "A mouth disease located_in the tongue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K14"^^xsd:string, "ICD9CM:529.9"^^xsd:string, "MESH:D014060"^^xsd:string, "NCI:C173793"^^xsd:string, "SNOMEDCT_US_2021_03_01:69244009"^^xsd:string, "UMLS_CUI:C0040409"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10944"^^xsd:string ; a owl:Class ; rdfs:label "tongue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001723 ] ) ] . obo:DOID_10952 obo:IAO_0000115 "A kidney disease that is characterized by an inflammation of the kidneys."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N08"^^xsd:string, "MESH:D009393"^^xsd:string, "NCI:C26833"^^xsd:string, "SNOMEDCT_US_2021_03_01:52845002"^^xsd:string, "UMLS_CUI:C0027697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10952"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10955 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050008"^^xsd:string ; oboInOwl:hasDbXref "GARD:8195"^^xsd:string, "ICD10CM:B78"^^xsd:string, "ICD9CM:127.2"^^xsd:string, "MESH:D013322"^^xsd:string, "NCI:C128398"^^xsd:string, "SNOMEDCT_US_2021_03_01:1214006"^^xsd:string, "UMLS_CUI:C0038463"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Strongyloides"@en, "disseminated strongyloidiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10955"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "strongyloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_37, obo:DOID_5295, obo:DOID_850, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6248 ] . obo:DOID_10957 obo:IAO_0000115 "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infection due to aerobacter aerogenes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10957"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enterobacter aerogenes intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10958 obo:IAO_0000115 "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to arizona group of paracolon bacilli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10958"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella arizonae intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10959 obo:IAO_0000115 "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to Escherichia coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10959"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10963 oboInOwl:hasDbXref "ICD10CM:H71.0"^^xsd:string, "ICD9CM:385.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:38708003"^^xsd:string, "UMLS_CUI:C0155489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10963"^^xsd:string ; a owl:Class ; rdfs:label "cholesteatoma of attic"^^xsd:string ; rdfs:subClassOf obo:DOID_10964 . obo:DOID_10964 oboInOwl:hasAlternativeId "DOID:11433"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H71"^^xsd:string, "ICD9CM:385.3"^^xsd:string, "ICD9CM:385.32"^^xsd:string, "MESH:D018424"^^xsd:string, "NCI:C3654"^^xsd:string, "SNOMEDCT_US_2021_03_01:39911004"^^xsd:string, "SNOMEDCT_US_2021_03_01:87688009"^^xsd:string, "UMLS_CUI:C0008374"^^xsd:string, "UMLS_CUI:C0155490"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesteatoma of middle ear"@en, "Cholesteatoma of middle ear and mastoid"@en, "Cholesteatoma of middle ear and/or mastoid"@en, "Cholesteatoma of the middle ear"@en, "Epidermosis of ear"@en, "Epidermosis of middle ear"@en, "cholesteatoma"@en, "middle ear cholesteatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10964"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholesteatoma of middle ear"^^xsd:string ; rdfs:subClassOf obo:DOID_5100, obo:DOID_869 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_869 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] ) ] . obo:DOID_10965 obo:IAO_0000115 "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3778"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G80.1"^^xsd:string, "ICD9CM:343.0"^^xsd:string, "MESH:D002547"^^xsd:string, "NCI:C34781"^^xsd:string, "SNOMEDCT_US_2021_03_01:1178005"^^xsd:string, "SNOMEDCT_US_2021_03_01:275469001"^^xsd:string, "UMLS_CUI:C0023882"^^xsd:string, "UMLS_CUI:C0154695"^^xsd:string ; oboInOwl:hasExactSynonym "Diplegic infantile cerebral palsy"@en, "Infantile spastic cerebral palsy"@en, "Little's disease"@en, "Littles disease"@en, "cerebral spastic infantile paralysis"@en, "infantile diplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10965"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spastic diplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10966 oboInOwl:hasDbXref "ICD10CM:N04"^^xsd:string, "MESH:D009402"^^xsd:string, "NCI:C34844"^^xsd:string, "SNOMEDCT_US_2021_03_01:197592009"^^xsd:string, "UMLS_CUI:C0027721"^^xsd:string ; oboInOwl:hasExactSynonym "Minimal Change Glomerulonephritis"@en, "Minimal change disease"@en, "Nephrotic syndrome with lesion of minimal change glomerulonephritis"@en, "Nephrotic syndrome with lesion of minimal change nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10966"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoid nephrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1184 . obo:DOID_10967 obo:IAO_0000115 "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally."^^xsd:string ; oboInOwl:hasDbXref "GARD:10448"^^xsd:string, "ICD9CM:343.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:258714003"^^xsd:string, "UMLS_CUI:C0270805"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital hemiplegia"@en, "Hemiplegic cerebral palsy"@en, "Hemiplegic infantile cerebral palsy"@en, "hemiplegic cerebral palsy"@en, "spastic hemiplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10967"^^xsd:string ; a owl:Class ; rdfs:label "spastic hemiplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10968 obo:IAO_0000115 "A spastic cerebral palsy that affects only one limb."^^xsd:string ; oboInOwl:hasDbXref "GARD:10446"^^xsd:string, "ICD9CM:343.3"^^xsd:string, "MESH:D002547"^^xsd:string, "UMLS_CUI:C0154698"^^xsd:string ; oboInOwl:hasExactSynonym "Monoplegic infantile cerebral palsy"@en, "infantile monoplegic cerebral palsy"@en, "spastic monoplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10968"^^xsd:string ; a owl:Class ; rdfs:label "spastic monoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10969 obo:IAO_0000115 "A central nervous system disease that is characterized by the complete paralysis of half of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:6583"^^xsd:string, "ICD9CM:343.4"^^xsd:string, "MESH:D006429"^^xsd:string, "SNOMEDCT_US_2021_03_01:155024003"^^xsd:string, "UMLS_CUI:C0392550"^^xsd:string ; oboInOwl:hasExactSynonym "Infantile hemiplegia"@en, "Postnatal infantile hemiplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10969"^^xsd:string ; a owl:Class ; rdfs:label "hemiplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_1097 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1097"^^xsd:string ; a owl:Class ; rdfs:comment "Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis."^^xsd:string ; rdfs:label "obsolete hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_10970 obo:IAO_0000115 "A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:343.2"^^xsd:string, "MESH:D002547"^^xsd:string, "OMIM:612900"^^xsd:string, "ORDO:210141"^^xsd:string, "SNOMEDCT_US_2021_03_01:192953000"^^xsd:string, "UMLS_CUI:C0154697"^^xsd:string ; oboInOwl:hasExactSynonym "quadriplegic infantile cerebral palsy"@en, "spastic quadriplegic cerebral palsy"@en, "tetraplegic infantile cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10970"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "spastic quadriplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10971 oboInOwl:hasDbXref "ICD10CM:N70.03"^^xsd:string, "ICD9CM:614.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:155969007"^^xsd:string, "UMLS_CUI:C0156327"^^xsd:string ; oboInOwl:hasExactSynonym "acute salpingitis and oophoritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10971"^^xsd:string ; a owl:Class ; rdfs:label "acute salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10972 . obo:DOID_10972 oboInOwl:hasDbXref "ICD10CM:N70"^^xsd:string, "ICD9CM:614.2"^^xsd:string, "NCI:C171201"^^xsd:string, "SNOMEDCT_US_2021_03_01:46536000"^^xsd:string, "UMLS_CUI:C0036133"^^xsd:string ; oboInOwl:hasExactSynonym "Salpingitis/oophoritis"@en, "Tubo-ovarian inflammatory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10972"^^xsd:string ; a owl:Class ; rdfs:label "salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10974 . obo:DOID_10973 oboInOwl:hasDbXref "ICD10CM:N70.01"^^xsd:string, "NCI:C40120"^^xsd:string, "SNOMEDCT_US_2021_03_01:8912009"^^xsd:string, "UMLS_CUI:C0269038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10973"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5733 . obo:DOID_10974 obo:IAO_0000115 "An ovarian disease that is characterized by inflammation of the ovary."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N70.92"^^xsd:string, "MESH:D009869"^^xsd:string, "SNOMEDCT_US_2021_03_01:266648001"^^xsd:string, "UMLS_CUI:C0029051"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10974"^^xsd:string ; a owl:Class ; rdfs:label "oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_10976 oboInOwl:hasDbXref "EFO:0004254"^^xsd:string, "ICD10CM:N03.2"^^xsd:string, "MESH:D015433"^^xsd:string, "NCI:C34645"^^xsd:string, "SNOMEDCT_US_2021_03_01:197710000"^^xsd:string, "UMLS_CUI:C0017665"^^xsd:string ; oboInOwl:hasExactSynonym "membranous nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "membranous glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_10978 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type III nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10979 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type I nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_1098 oboInOwl:hasDbXref "ICD10CM:P55"^^xsd:string, "ICD9CM:773"^^xsd:string, "MESH:D004899"^^xsd:string, "NCI:C101304"^^xsd:string, "SNOMEDCT_US_2021_03_01:111468003"^^xsd:string, "UMLS_CUI:C0014761"^^xsd:string ; oboInOwl:hasExactSynonym "EF - Erythroblastosis foetalis"@en, "Haemolytic disease due to rhesus isoimmunisation"@en, "erythroblastosis fetalis"@en, "rhesus isoimmunisation of the newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetal erythroblastosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11252 . obo:DOID_10980 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type II nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10983 obo:IAO_0000115 "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:5785"^^xsd:string, "MESH:D009394"^^xsd:string, "ORDO:63"^^xsd:string, "SNOMEDCT_US_2021_03_01:57333009"^^xsd:string, "UMLS_CUI:C0027706"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary Nephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10983"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_10986 oboInOwl:hasDbXref "ICD10CM:M46.4"^^xsd:string, "MESH:D015299"^^xsd:string, "SNOMEDCT_US_2021_03_01:2304001"^^xsd:string, "UMLS_CUI:C0012624"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10986"^^xsd:string ; a owl:Class ; rdfs:label "discitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1222 . obo:DOID_10989 oboInOwl:hasDbXref "ICD10CM:H11.41"^^xsd:string, "ICD9CM:372.74"^^xsd:string, "NCI:C35116"^^xsd:string, "SNOMEDCT_US_2021_03_01:74100001"^^xsd:string, "UMLS_CUI:C0042370"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival vascular abnormality"@en, "vascular abnormalities of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10989"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_1099 obo:IAO_0000115 "Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:621"^^xsd:string, "ICD10CM:D56.0"^^xsd:string, "ICD9CM:282.43"^^xsd:string, "MESH:D017085"^^xsd:string, "NCI:C34368"^^xsd:string, "OMIM:604131"^^xsd:string, "SNOMEDCT_US_2021_03_01:191186002"^^xsd:string, "UMLS_CUI:C0002312"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha thalassaemia"@en, "alpha-Thalassemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1099"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alpha thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10241 . obo:DOID_10991 oboInOwl:hasDbXref "MESH:D020144"^^xsd:string, "UMLS_CUI:C0751739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10991"^^xsd:string ; a owl:Class ; rdfs:label "basal ganglia cerebrovascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_6713 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010011 ] ) ] ; skos:exactMatch "MESH:D020144"^^xsd:string . obo:DOID_10992 obo:IAO_0000115 "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema."^^xsd:string ; oboInOwl:hasDbXref "GARD:8629"^^xsd:string, "MESH:D004684"^^xsd:string, "NCI:C84535"^^xsd:string, "OMIM:606752"^^xsd:string, "SNOMEDCT_US_2021_03_01:72986009"^^xsd:string, "UMLS_CUI:C0014077"^^xsd:string ; oboInOwl:hasExactSynonym "AHL"@en, "Weston-Hurst syndrome"@en, "acute haemorrhagic leucoencephalitis of Weston Hurst"@en, "acute hemorrhagic encephalomyelitis"@en, "acute necrotizing hemorrhagic leukoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10992"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acute hemorrhagic leukoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_639, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_10993 obo:IAO_0000115 "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection."^^xsd:string ; oboInOwl:hasExactSynonym "Postinfective encephalitis"@en, "secondary encephalitis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10993"^^xsd:string ; a owl:Class ; rdfs:label "postinfectious encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_438, obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_10997 obo:IAO_0000115 "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H25.09"^^xsd:string, "SNOMEDCT_US_2021_03_01:52421005"^^xsd:string, "UMLS_CUI:C0271163"^^xsd:string ; oboInOwl:hasExactSynonym "Incipient cataract"@en, "Incipient senile cataract"@en, "Water clefts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10997"^^xsd:string ; a owl:Class ; rdfs:label "immature cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_10998 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10998"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_110 obo:IAO_0000115 "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H27.9"^^xsd:string, "MESH:D007905"^^xsd:string, "NCI:C26812"^^xsd:string, "SNOMEDCT_US_2021_03_01:194613002"^^xsd:string, "UMLS_CUI:C0023308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lens disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_1100 obo:IAO_0000115 "A female reproductive system disease that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010049"^^xsd:string, "NCI:C26841"^^xsd:string, "SNOMEDCT_US_2021_03_01:5552004"^^xsd:string, "UMLS_CUI:C0029928"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1100"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2277, obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_11000 oboInOwl:hasExactSynonym "Essential iris atrophy (disorder)"@en, "Essential or progressive iris atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete progressive iris atrophy"^^xsd:string ; owl:deprecated true . obo:DOID_11001 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iris and ciliary body degeneration"^^xsd:string ; owl:deprecated true . obo:DOID_11002 oboInOwl:hasExactSynonym "Iridoschisis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11002"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iridoschisis"^^xsd:string ; owl:deprecated true . obo:DOID_11003 oboInOwl:hasExactSynonym "Miotic cyst of pupillary margin (disorder)"@en, "Miotic cysts of pupillary margin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11003"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pupillary margin miotic cyst"^^xsd:string ; owl:deprecated true . obo:DOID_11005 oboInOwl:hasExactSynonym "degeneration of pupillary margin"@en, "degeneration of pupillary margin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11005"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Atrophy of sphincter of iris"^^xsd:string ; owl:deprecated true . obo:DOID_11014 oboInOwl:hasDbXref "ICD10CM:K62.4"^^xsd:string, "ICD9CM:569.2"^^xsd:string, "MESH:D000071056"^^xsd:string, "SNOMEDCT_US_2021_03_01:197216007"^^xsd:string, "UMLS_CUI:C0156183"^^xsd:string ; oboInOwl:hasExactSynonym "Anorectal stricture"@en, "Stenosis of rectum and anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11014"^^xsd:string ; a owl:Class ; rdfs:label "anorectal stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_3128 . obo:DOID_11018 oboInOwl:hasExactSynonym "Post-surgical testicular hypofunction (disorder)"@en, "Postablative testicular hypofunction"@en, "Postablative testicular hypofunction (disorder)"@en, "Postablative testicular hypofunction NOS (disorder)"@en, "Postsurgical testicular hypofunction (disorder) [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postsurgical testicular hypofunction"^^xsd:string ; owl:deprecated true . obo:DOID_11019 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular dysfunction"^^xsd:string ; owl:deprecated true . obo:DOID_11020 oboInOwl:hasExactSynonym "chronic glomerulonephritis with lesion of proliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11027 oboInOwl:hasExactSynonym "chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11028 oboInOwl:hasDbXref "ICD9CM:372.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:66139007"^^xsd:string, "UMLS_CUI:C0155161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11028"^^xsd:string ; a owl:Class ; rdfs:label "pseudopterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11029 oboInOwl:hasDbXref "ICD10CM:H11.15"^^xsd:string, "ICD9CM:372.51"^^xsd:string, "MESH:D059407"^^xsd:string, "NCI:C129468"^^xsd:string, "SNOMEDCT_US_2021_03_01:267735001"^^xsd:string, "UMLS_CUI:C0152255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pinguecula"^^xsd:string ; rdfs:subClassOf obo:DOID_10139 . obo:DOID_1103 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant esophageal neoplasm by topographic region"^^xsd:string ; owl:deprecated true . obo:DOID_11030 oboInOwl:hasDbXref "ICD10CM:H18.20"^^xsd:string, "ICD9CM:371.2"^^xsd:string, "MESH:D015715"^^xsd:string, "NCI:C50508"^^xsd:string, "SNOMEDCT_US_2021_03_01:193811006"^^xsd:string, "UMLS_CUI:C0010037"^^xsd:string ; oboInOwl:hasExactSynonym "Corneal oedema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11031 oboInOwl:hasDbXref "ICD10CM:H18.1"^^xsd:string, "ICD9CM:371.23"^^xsd:string, "NCI:C26970"^^xsd:string, "SNOMEDCT_US_2021_03_01:193815002"^^xsd:string, "UMLS_CUI:C0155111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bullous keratopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11032 oboInOwl:hasDbXref "ICD10CM:H18.23"^^xsd:string, "ICD9CM:371.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:193814003"^^xsd:string, "UMLS_CUI:C0155110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11032"^^xsd:string ; a owl:Class ; rdfs:label "secondary corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11033 oboInOwl:hasDbXref "ICD10CM:H18.22"^^xsd:string, "ICD9CM:371.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193813009"^^xsd:string, "UMLS_CUI:C0155109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11033"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11034 oboInOwl:hasDbXref "ICD9CM:371.24"^^xsd:string, "SNOMEDCT_US_2021_03_01:49362009"^^xsd:string, "UMLS_CUI:C0474442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11034"^^xsd:string ; a owl:Class ; rdfs:label "contact lens corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11036 oboInOwl:hasDbXref "ICD9CM:582.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:197614002"^^xsd:string, "UMLS_CUI:C0341694"^^xsd:string ; oboInOwl:hasExactSynonym "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11036"^^xsd:string ; a owl:Class ; rdfs:label "chronic rapidly progressive glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_11037 obo:IAO_0000115 "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.0"^^xsd:string, "ICD9CM:300.12"^^xsd:string, "MESH:D000647"^^xsd:string, "NCI:C94328"^^xsd:string, "SNOMEDCT_US_2021_03_01:192420000"^^xsd:string, "UMLS_CUI:C0236795"^^xsd:string ; oboInOwl:hasExactSynonym "psychogenic amnesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11037"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dissociative amnesia"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_11038 obo:IAO_0000115 "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization."^^xsd:string ; oboInOwl:hasDbXref "GARD:6260"^^xsd:string, "ICD9CM:300.6"^^xsd:string, "MESH:D003861"^^xsd:string, "NCI:C94331"^^xsd:string, "SNOMEDCT_US_2021_03_01:70764005"^^xsd:string, "UMLS_CUI:C0683416"^^xsd:string ; oboInOwl:hasExactSynonym "Neurotic derealization"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11038"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "depersonalization disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_11042 obo:IAO_0000115 "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia."^^xsd:string ; oboInOwl:hasDbXref "GARD:8234"^^xsd:string, "ICD10CM:M05.0"^^xsd:string, "ICD9CM:714.1"^^xsd:string, "MESH:D005258"^^xsd:string, "NCI:C84712"^^xsd:string, "OMIM:134750"^^xsd:string, "SNOMEDCT_US_2021_03_01:57160007"^^xsd:string, "UMLS_CUI:C0015773"^^xsd:string ; oboInOwl:hasExactSynonym "Felty syndrome"@en, "Rheumatoid arthritis with splenoadenomegaly and leukopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Felty's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_11044 oboInOwl:hasDbXref "GARD:8661"^^xsd:string, "ICD10CM:Q79.3"^^xsd:string, "ICD9CM:756.73"^^xsd:string, "MESH:D020139"^^xsd:string, "NCI:C84725"^^xsd:string, "OMIM:230750"^^xsd:string, "SNOMEDCT_US_2021_03_01:72951007"^^xsd:string, "UMLS_CUI:C0265706"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gastroschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_11049 obo:IAO_0000115 "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery."^^xsd:string ; oboInOwl:hasDbXref "GARD:10494"^^xsd:string, "ICD10CM:P24.01"^^xsd:string, "MESH:D008471"^^xsd:string, "NCI:C87093"^^xsd:string, "SNOMEDCT_US_2021_03_01:85779008"^^xsd:string, "UMLS_CUI:C0025048"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal aspiration of meconium"@en, "meconium aspiration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meconium aspiration syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_1105 oboInOwl:hasExactSynonym "metastatic tumor to the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete esophageal metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_11054 obo:IAO_0000115 "An urinary system cancer that results_in malignant growth located_in the urinary bladder."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5428"^^xsd:string ; oboInOwl:hasDbXref "GARD:12210"^^xsd:string, "ICD10CM:C67"^^xsd:string, "ICD9CM:188"^^xsd:string, "KEGG:05219"^^xsd:string, "MESH:D001749"^^xsd:string, "NCI:C2901"^^xsd:string, "NCI:C9334"^^xsd:string, "OMIM:109800"^^xsd:string, "SNOMEDCT_US_2021_03_01:126885006"^^xsd:string, "SNOMEDCT_US_2021_03_01:363455001"^^xsd:string, "UMLS_CUI:C0005684"^^xsd:string, "UMLS_CUI:C0005695"^^xsd:string ; oboInOwl:hasExactSynonym "bladder cancer"@en, "tumor of the bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11054"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "urinary bladder cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_3996 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_11055 obo:IAO_0000115 "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A28.0"^^xsd:string, "ICD9CM:027.2"^^xsd:string, "MESH:D010326"^^xsd:string, "SNOMEDCT_US_2021_03_01:276199008"^^xsd:string, "UMLS_CUI:C0030636"^^xsd:string ; oboInOwl:hasExactSynonym "Pasteurella infection"@en, "Pasteurella infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11055"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "pasteurellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_747 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_11056 oboInOwl:hasExactSynonym "hemorrhagic septicemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11056"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pasteurella hemorrhagic septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_1106 oboInOwl:hasDbXref "NCI:C5687"^^xsd:string, "UMLS_CUI:C1333459"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of esophagus"@en, "Lymphoma of oesophagus"@en, "oesophagus lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5041, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11060 obo:IAO_0000115 "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O44"^^xsd:string, "MESH:D010923"^^xsd:string, "NCI:C26858"^^xsd:string, "SNOMEDCT_US_2021_03_01:157059004"^^xsd:string, "UMLS_CUI:C0032046"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placenta praevia"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_1107 obo:IAO_0000115 "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002916"^^xsd:string, "NCI:C3513"^^xsd:string, "SNOMEDCT_US_2021_03_01:255079005"^^xsd:string, "UMLS_CUI:C0152018"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of esophagus"@en, "cancer of oesophagus"@en, "carcinoma OF ESOPHAGUS"@en, "carcinoma of esophagus"@en, "carcinoma of oesophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1107"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5041, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_11074 oboInOwl:hasExactSynonym "Cyst of the Thyroid gland"@en, "Cyst of thyroid"@en, "Cyst of thyroid (disorder)"@en, "Thyroid cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11074"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cyst of thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_11076 obo:IAO_0000115 "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11076"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brucella suis brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11077, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29461 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000975 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11077 obo:IAO_0000115 "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050060"^^xsd:string ; oboInOwl:hasDbXref "GARD:5966"^^xsd:string, "ICD10CM:A23"^^xsd:string, "ICD9CM:023"^^xsd:string, "MESH:D002006"^^xsd:string, "NCI:C84602"^^xsd:string, "SNOMEDCT_US_2021_03_01:154296006"^^xsd:string, "UMLS_CUI:C0006309"^^xsd:string ; oboInOwl:hasExactSynonym "Maltese fever"@en, "undulant fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Bang's disease"@en, "Gibraltar fever"@en, "Malta fever"@en, "Mediterranean fever"@en ; oboInOwl:id "DOID:11077"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_234 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ] . obo:DOID_11079 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B88.3"^^xsd:string, "ICD9CM:134.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:154423006"^^xsd:string, "UMLS_CUI:C0019575"^^xsd:string ; oboInOwl:hasExactSynonym "Hirudiniasis"@en, "Leech infestation"@en, "Leeches"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11079"^^xsd:string ; a owl:Class ; rdfs:label "leech infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_1108 oboInOwl:hasDbXref "NCI:C5707"^^xsd:string, "UMLS_CUI:C1333460"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of esophagus"@en, "melanoma of oesophagus"@en, "oesophagus melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1108"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5041 . obo:DOID_11080 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B87"^^xsd:string, "ICD9CM:134.0"^^xsd:string, "MESH:D009198"^^xsd:string, "NCI:C128400"^^xsd:string, "SNOMEDCT_US_2021_03_01:266225001"^^xsd:string, "UMLS_CUI:C0027030"^^xsd:string ; oboInOwl:hasExactSynonym "Infestation by fly larvae"@en, "Infestation by maggots"@en, "Maggot infestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_11086 oboInOwl:hasDbXref "ICD10CM:H31.0"^^xsd:string, "ICD9CM:363.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:53854005"^^xsd:string, "UMLS_CUI:C0008512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11086"^^xsd:string ; a owl:Class ; rdfs:label "chorioretinal scar"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_11088 obo:IAO_0000115 "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:5857"^^xsd:string, "ICD10CM:P84"^^xsd:string, "ICD9CM:768.9"^^xsd:string, "MESH:D001238"^^xsd:string, "SNOMEDCT_US_2021_03_01:413654009"^^xsd:string, "UMLS_CUI:C0004045"^^xsd:string ; oboInOwl:hasExactSynonym "Asphyxia - birth"@en, "Asphyxia, in liveborn infant"@en, "Birth asphyxia"@en, "postnatal asphyxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11088"^^xsd:string ; a owl:Class ; rdfs:label "asphyxia neonatorum"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 ; skos:exactMatch "MESH:D001238"^^xsd:string . obo:DOID_1109 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete extracutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_11091 oboInOwl:hasExactSynonym "Perinatal respiratory problems NOS"@en, "Perinatal respiratory problems NOS (disorder)"@en, "Unspecified respiratory condition of fetus and newborn"@en, "respiratory condition of fetus OR newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal respiratory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11092 obo:IAO_0000115 "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness."^^xsd:string ; oboInOwl:hasExactSynonym "Enteric paratyphosis"@en, "Salmonella food poisoning"@en, "Salmonella food poisoning (disorder)"@en, "Salmonella gastroenteritis"@en, "Salmonella gastroenteritis (disorder)"@en, "Salmonella gastroenteritis [Ambiguous]"@en, "Salmonellosis"@en, "Salmonellosis (& [gastroenteritis] or [food poisoning])"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11092"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11093 obo:IAO_0000115 "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050128"^^xsd:string ; oboInOwl:hasExactSynonym "Bacterial gastroenteritis (disorder)"@en, "Gastroenteritis - bact."@en, "bacterial diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11093"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bacterial gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11096 oboInOwl:hasExactSynonym "Syphilis of kidney"@en, "Syphilis of kidney (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11096"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete renal syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11097 obo:IAO_0000115 "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever."^^xsd:string ; oboInOwl:hasExactSynonym "Syphilis of lung (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11097"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11099 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11099"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Rickettsiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1110 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_11100 obo:IAO_0000115 "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia."^^xsd:string ; oboInOwl:hasDbXref "GARD:7515"^^xsd:string, "ICD10CM:A78"^^xsd:string, "ICD9CM:083.0"^^xsd:string, "MESH:D011778"^^xsd:string, "NCI:C34970"^^xsd:string, "SNOMEDCT_US_2021_03_01:266205000"^^xsd:string, "UMLS_CUI:C0034362"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Coxiella burnetii"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11100"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Q fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000009 obo:TRANS_0000012 obo:TRANS_0000024 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11101 obo:IAO_0000115 "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A79.0"^^xsd:string, "ICD9CM:083.1"^^xsd:string, "MESH:D014205"^^xsd:string, "SNOMEDCT_US_2021_03_01:82214002"^^xsd:string, "UMLS_CUI:C0040830"^^xsd:string ; oboInOwl:hasExactSynonym "His-Werner disease"@en, "Quintan fever"@en, "Wolhynian fever"@en, "shin bone fever"@en, "tibialgic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11101"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "trench fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_803 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_121224 ] ; skos:exactMatch "MESH:D014205"^^xsd:string . obo:DOID_11102 obo:IAO_0000115 "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A44"^^xsd:string, "ICD9CM:088.0"^^xsd:string, "MESH:D001474"^^xsd:string, "NCI:C84586"^^xsd:string, "SNOMEDCT_US_2021_03_01:17116008"^^xsd:string, "UMLS_CUI:C0004771"^^xsd:string ; oboInOwl:hasExactSynonym "Bartonella infectious disease"@en, "Rochalimaea infection"@en, "bartonelliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11102"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "bartonellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338 . obo:DOID_11103 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050037"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A79.1"^^xsd:string, "ICD9CM:083.2"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:75096007"^^xsd:string, "UMLS_CUI:C0035597"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia akari spotted fever"@en, "Vesicular rickettsiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11103"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "rickettsialpox"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_786 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11104 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite."^^xsd:string ; oboInOwl:hasDbXref "GARD:4998"^^xsd:string, "ICD10CM:A77.9"^^xsd:string, "ICD9CM:082.0"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:186771002"^^xsd:string, "UMLS_CUI:C0038041"^^xsd:string ; oboInOwl:hasExactSynonym "Spotted fever group rickettsial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11104"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_780 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000020 obo:TRANS_0000024 ) ] ] . obo:DOID_11105 obo:IAO_0000115 "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562733"^^xsd:string, "OMIM:136880"^^xsd:string, "SNOMEDCT_US_2021_03_01:68222009"^^xsd:string, "UMLS_CUI:C0311338"^^xsd:string ; oboInOwl:hasExactSynonym "Pigmentary retinal dystrophy"@en, "retinitis punctata albescens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11105"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fundus albipunctatus"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_11106 oboInOwl:hasExactSynonym "Glaucoma associated with anterior segment anomaly (disorder)"@en, "Glaucoma associated with other anterior segment anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with anterior segment anomaly"^^xsd:string ; owl:deprecated true . obo:DOID_11107 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with ocular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_1111 oboInOwl:hasExactSynonym "malignant neoplasm of cervical esophagus"@en, "malignant neoplasm of cervical oesophagus"@en, "malignant neoplasm of the cervical esophagus"@en, "malignant tumor of cervical part of esophagus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of cervical part of esophagus"^^xsd:string ; owl:deprecated true . obo:DOID_11110 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychosexual dysfunction with female orgasmic disease"^^xsd:string ; owl:deprecated true . obo:DOID_11111 oboInOwl:hasDbXref "ICD10CM:N13.30"^^xsd:string, "ICD9CM:591"^^xsd:string, "MESH:D006869"^^xsd:string, "NCI:C26796"^^xsd:string, "SNOMEDCT_US_2021_03_01:155866001"^^xsd:string, "UMLS_CUI:C0020295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11111"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hydronephrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5200 . obo:DOID_11118 oboInOwl:hasExactSynonym "Syphilitic retrobulbar neuritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11118"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic retrobulbar neuritis"^^xsd:string ; owl:deprecated true . obo:DOID_11119 obo:IAO_0000115 "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004895"^^xsd:string, "GARD:7783"^^xsd:string, "ICD10CM:F95.2"^^xsd:string, "ICD9CM:307.23"^^xsd:string, "MESH:D005879"^^xsd:string, "NCI:C35078"^^xsd:string, "OMIM:137580"^^xsd:string, "SNOMEDCT_US_2021_03_01:5158005"^^xsd:string, "UMLS_CUI:C0040517"^^xsd:string ; oboInOwl:hasExactSynonym "Guinon's disease"@en, "Psychogenic tics"@en, "Tourette syndrome"@en, "motor-verbal tic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gilles de la Tourette syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2769, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100034 ] . obo:DOID_1112 oboInOwl:hasExactSynonym "malignant neoplasm of neck"@en, "malignant neoplasm of neck NOS (disorder)"@en, "malignant tumor of neck (disorder)"@en, "malignant tumor of the neck"@en, "neck cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of neck"@en ; oboInOwl:id "DOID:1112"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neck cancer"^^xsd:string ; owl:deprecated true . obo:DOID_11120 oboInOwl:hasDbXref "ICD10CM:F52.6"^^xsd:string, "ICD9CM:302.76"^^xsd:string, "SNOMEDCT_US_2021_03_01:41021005"^^xsd:string, "UMLS_CUI:C0154466"^^xsd:string ; oboInOwl:hasExactSynonym "Dyspareunia, psychogenic"@en, "Non-organic dyspareunia"@en, "Psychologic dyspareunia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11120"^^xsd:string ; a owl:Class ; rdfs:label "psychologic dyspareunia"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_11121 oboInOwl:hasDbXref "ICD10CM:K04.0"^^xsd:string, "ICD9CM:522.0"^^xsd:string, "MESH:D011671"^^xsd:string, "NCI:C52595"^^xsd:string, "SNOMEDCT_US_2021_03_01:155638006"^^xsd:string, "UMLS_CUI:C0034103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11121"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulpitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_11123 obo:IAO_0000115 "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:8204"^^xsd:string, "ICD10CM:D69.0"^^xsd:string, "ICD9CM:287.0"^^xsd:string, "MESH:D011695"^^xsd:string, "NCI:C34963"^^xsd:string, "SNOMEDCT_US_2021_03_01:191306005"^^xsd:string, "UMLS_CUI:C0034152"^^xsd:string ; oboInOwl:hasExactSynonym "Allergic purpura"@en, "Autoimmune purpura"@en, "Henoch-Sch?nlein purpura"@en, "Henoch-Sch@nlein purpura"@en, "Henoch-Scholein purpura"@en, "Henoch-Schonlein Purpura"@en, "Purpura, autoimmune"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Henoch-Schoenlein purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_9809 . obo:DOID_11125 oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "ICD9CM:287.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:191311007"^^xsd:string, "UMLS_CUI:C0235604"^^xsd:string ; oboInOwl:hasExactSynonym "Qualitative platelet deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11125"^^xsd:string ; a owl:Class ; rdfs:label "qualitative platelet defect"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_11126 oboInOwl:hasDbXref "ICD10CM:D69.5"^^xsd:string, "ICD9CM:287.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:74576004"^^xsd:string, "UMLS_CUI:C0154301"^^xsd:string ; oboInOwl:hasExactSynonym "secondary thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11126"^^xsd:string ; a owl:Class ; rdfs:label "acquired thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_1588 . obo:DOID_11129 oboInOwl:hasDbXref "ICD9CM:385.23"^^xsd:string, "UMLS_CUI:C0155487"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11129"^^xsd:string ; a owl:Class ; rdfs:label "dislocation of ear ossicle"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_1113 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant esophageal neoplasm by anatomic region"^^xsd:string ; owl:deprecated true . obo:DOID_11130 oboInOwl:hasDbXref "ICD10CM:I15"^^xsd:string, "ICD9CM:405"^^xsd:string, "NCI:C3657"^^xsd:string, "SNOMEDCT_US_2021_03_01:155300002"^^xsd:string, "UMLS_CUI:C0155616"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secondary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_11132 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11132"^^xsd:string ; a owl:Class ; rdfs:label "prostatic hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_47 . obo:DOID_11133 oboInOwl:hasDbXref "ICD10CM:N42.83"^^xsd:string, "ICD9CM:600.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:409658007"^^xsd:string, "UMLS_CUI:C1443972"^^xsd:string ; oboInOwl:hasExactSynonym "Cyst of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11133"^^xsd:string ; a owl:Class ; rdfs:label "prostatic cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_11132 . obo:DOID_11134 oboInOwl:hasDbXref "ICD10CM:H04.16"^^xsd:string, "ICD9CM:375.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:84777002"^^xsd:string, "UMLS_CUI:C0155231"^^xsd:string ; oboInOwl:hasExactSynonym "Dislocation of lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11134"^^xsd:string ; a owl:Class ; rdfs:label "prolapse of lacrimal gland"^^xsd:string ; rdfs:subClassOf obo:DOID_1400, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_1114 obo:IAO_0000115 "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5341"^^xsd:string, "UMLS_CUI:C1333466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "esophageal sarcoma"@en ; oboInOwl:id "DOID:1114"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5041, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_11144 oboInOwl:hasExactSynonym "Anthrax septicemia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11144"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete anthrax septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11145 oboInOwl:hasExactSynonym "primary cyst of pars plana"@en, "primary cyst of pars plana (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pars plana primary cyst"^^xsd:string ; owl:deprecated true . obo:DOID_11147 oboInOwl:hasAlternativeId "DOID:11146"^^xsd:string, "DOID:14083"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum vascular lesions of cord complicating labor and delivery"@en, "vascular lesions of cord complicating labor and delivery, delivered"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11147"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vascular lesions of cord complicating labor and delivery"^^xsd:string ; owl:deprecated true . obo:DOID_11148 obo:IAO_0000115 "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.82"^^xsd:string, "ICD9CM:365.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:29369005"^^xsd:string, "UMLS_CUI:C0154968"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11148"^^xsd:string ; a owl:Class ; rdfs:label "hypersecretion glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_11149 obo:IAO_0000115 "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.83"^^xsd:string, "ICD9CM:365.83"^^xsd:string, "UMLS_CUI:C1135189"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11149"^^xsd:string ; a owl:Class ; rdfs:label "aqueous misdirection"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_1115 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3936"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C49"^^xsd:string, "ICD9CM:171.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:93765001"^^xsd:string, "UMLS_CUI:C0153519"^^xsd:string ; oboInOwl:hasExactSynonym "connective and soft tissue neoplasm"@en, "tumor of soft tissue and skeleton"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1115"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] ) ] . obo:DOID_11150 oboInOwl:hasExactSynonym "Glaucoma with increased episcleral venous pressure"@en, "Glaucoma with increased episcleral venous pressure (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma due to raised episcleral venous pressure"^^xsd:string ; owl:deprecated true . obo:DOID_11151 oboInOwl:hasDbXref "MESH:D041761"^^xsd:string, "NCI:C34443"^^xsd:string, "SNOMEDCT_US_2021_03_01:235919008"^^xsd:string, "UMLS_CUI:C0947622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholecystolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_11153 obo:IAO_0000115 "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.0"^^xsd:string, "ICD9CM:705.1"^^xsd:string, "MESH:D008883"^^xsd:string, "SNOMEDCT_US_2021_03_01:44279002"^^xsd:string, "UMLS_CUI:C0162423"^^xsd:string ; oboInOwl:hasExactSynonym "prickly heat"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11153"^^xsd:string ; a owl:Class ; rdfs:label "miliaria rubra"^^xsd:string ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_11155 obo:IAO_0000115 "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.4"^^xsd:string, "MESH:D007007"^^xsd:string, "NCI:C34718"^^xsd:string, "SNOMEDCT_US_2021_03_01:201189007"^^xsd:string, "UMLS_CUI:C0020620"^^xsd:string ; oboInOwl:hasExactSynonym "Hypohidrosis"@en, "Oligohidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypohidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1383 ; skos:exactMatch "MESH:D007007"^^xsd:string . obo:DOID_11156 obo:IAO_0000115 "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.4"^^xsd:string, "ICD9CM:705.0"^^xsd:string, "MESH:D007007"^^xsd:string, "NCI:C34385"^^xsd:string, "OMIM:206600"^^xsd:string, "SNOMEDCT_US_2021_03_01:201189007"^^xsd:string, "UMLS_CUI:C0003028"^^xsd:string ; oboInOwl:hasExactSynonym "Adiaphoresis"@en, "absence of sweating"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "anhidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11155 . obo:DOID_11158 oboInOwl:hasExactSynonym "disorder of optic chiasm associated with non-pituitary neoplasm (disorder)"@en, "disorder of optic chiasm associated with other neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11158"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm associated with non-pituitary neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1116 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11333"^^xsd:string, "DOID:11751"^^xsd:string ; oboInOwl:hasDbXref "KEGG:05133"^^xsd:string, "MESH:D001885"^^xsd:string, "SNOMEDCT_US_2021_03_01:26484003"^^xsd:string, "UMLS_CUI:C0006015"^^xsd:string ; oboInOwl:hasExactSynonym "WC - Whooping cough"@en, "bordetella infection"@en, "whooping cough"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1116"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pertussis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_519 obo:NCBITaxon_520 ) ] ] . obo:DOID_11161 obo:IAO_0000115 "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P28.5"^^xsd:string, "ICD9CM:770.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:95619009"^^xsd:string, "UMLS_CUI:C0521648"^^xsd:string ; oboInOwl:hasExactSynonym "respiratory failure of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11161"^^xsd:string ; a owl:Class ; rdfs:label "neonatal respiratory failure"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_11162 obo:IAO_0000115 "A lung disease characterized by inadequate gas exchange by the respiratory system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11391"^^xsd:string, "DOID:11392"^^xsd:string, "DOID:11393"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J96.0"^^xsd:string, "ICD9CM:518.81"^^xsd:string, "NCI:C27043"^^xsd:string, "SNOMEDCT_US_2021_03_01:65710008"^^xsd:string, "UMLS_CUI:C0264490"^^xsd:string ; oboInOwl:hasExactSynonym "acute and chronic respiratory failure"@en, "acute respiratory Failure"@en, "acute-on-chronic respiratory failure"@en, "chronic respiratory failure"@en, "respiratory insufficiency/failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11162"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "respiratory failure"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_11163 oboInOwl:hasExactSynonym "primary apnea of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete apnea of prematurity"^^xsd:string ; owl:deprecated true . obo:DOID_11164 oboInOwl:hasDbXref "ICD10CM:H18.42"^^xsd:string, "ICD9CM:371.43"^^xsd:string, "MESH:C562399"^^xsd:string, "NCI:C118765"^^xsd:string, "OMIM:217500"^^xsd:string, "SNOMEDCT_US_2021_03_01:35055000"^^xsd:string, "UMLS_CUI:C0155120"^^xsd:string ; oboInOwl:hasExactSynonym "Band-shaped keratopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11164"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "band keratopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11165 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B07.8"^^xsd:string, "ICD9CM:078.1"^^xsd:string, "NCI:C27087"^^xsd:string, "SNOMEDCT_US_2021_03_01:57019003"^^xsd:string, "UMLS_CUI:C0043037"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "common wart"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_173087 ] . obo:DOID_11166 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact."^^xsd:string ; oboInOwl:hasDbXref "MESH:D030361"^^xsd:string ; oboInOwl:hasExactSynonym "HPV"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11166"^^xsd:string ; a owl:Class ; rdfs:label "Human papillomavirus infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11167 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condyloma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11167"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete uterine cervix condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11168 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7877"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A63.0"^^xsd:string, "ICD9CM:078.11"^^xsd:string, "MESH:D003218"^^xsd:string, "NCI:C2960"^^xsd:string, "NCI:C4820"^^xsd:string, "SNOMEDCT_US_2021_03_01:240542006"^^xsd:string, "SNOMEDCT_US_2021_03_01:302812006"^^xsd:string, "UMLS_CUI:C0009663"^^xsd:string, "UMLS_CUI:C0554632"^^xsd:string ; oboInOwl:hasExactSynonym "Anogenital Human papilloma Virus Infectious Disease"@en, "Anogenital warts"@en, "Genital warts"@en, "genital wart virus infectious disease"@en, "venereal wart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Condyloma acuminatum"@en ; oboInOwl:id "DOID:11168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "anogenital venereal wart"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_333754 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000002 obo:UBERON_0000167 obo:UBERON_0000341 obo:UBERON_0000989 obo:UBERON_0000995 obo:UBERON_0000996 obo:UBERON_0001245 obo:UBERON_0001300 ) ] ] . obo:DOID_11169 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts."^^xsd:string ; oboInOwl:hasExactSynonym "vaginal Condyloma Acuminatum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11169"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete vaginal condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11170 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condyloma acuminata of vulva (disorder)"@en, "Vulvar Condyloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11170"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete vulvar condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11171 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts."^^xsd:string ; oboInOwl:hasExactSynonym "urethral Condylomata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11171"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete urethral condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11172 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condylomata of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11172"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete anal condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11175 oboInOwl:hasDbXref "ICD10CM:H05.4"^^xsd:string, "ICD9CM:376.5"^^xsd:string, "MESH:D015841"^^xsd:string, "NCI:C79552"^^xsd:string, "SNOMEDCT_US_2021_03_01:267746003"^^xsd:string, "UMLS_CUI:C0014306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "enophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_11177 oboInOwl:hasDbXref "ICD9CM:367.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:193630009"^^xsd:string, "UMLS_CUI:C0152197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11177"^^xsd:string ; a owl:Class ; rdfs:label "total internal ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034, obo:DOID_238, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001771 ] . obo:DOID_11179 obo:IAO_0000115 "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media."^^xsd:string ; oboInOwl:hasExactSynonym "Glue ear"@en, "Mucoid otitis media"@en, "Mucoid otitis media NOS (disorder)"@en, "Otitis media with effusion"@en, "Otitis media with effusion - mucoid"@en, "Otitis media, transudative"@en, "Secretory Otitis Media"@en, "Transudative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11179"^^xsd:string ; a owl:Class ; rdfs:label "obsolete otitis media with effusion"^^xsd:string ; owl:deprecated true . obo:DOID_11180 obo:IAO_0000115 "A otitis media which involves transudation of fluid in the middle ear without pus formation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65"^^xsd:string, "ICD9CM:381.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:275481002"^^xsd:string, "UMLS_CUI:C0271446"^^xsd:string ; oboInOwl:hasExactSynonym "Nonsuppurative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11180"^^xsd:string ; a owl:Class ; rdfs:label "non-suppurative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_11181 obo:IAO_0000115 "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65.2"^^xsd:string, "ICD9CM:381.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:81564005"^^xsd:string, "UMLS_CUI:C0155421"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11181"^^xsd:string ; a owl:Class ; rdfs:label "serous glue ear"^^xsd:string ; rdfs:subClassOf obo:DOID_11180 . obo:DOID_11182 obo:IAO_0000115 "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic otitis media with effusion"^^xsd:string ; owl:deprecated true . obo:DOID_11183 oboInOwl:hasExactSynonym "Hemophilus influenzae septicemia (disorder)"@en, "Septicemia due to H. influenzae"@en, "Septicemia due to hemophilus influenzae [H. influenzae]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11183"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11184 oboInOwl:hasDbXref "ICD10CM:H10.02"^^xsd:string, "ICD9CM:372.03"^^xsd:string, "UMLS_CUI:C0029668"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11184"^^xsd:string ; a owl:Class ; rdfs:label "acute conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6195 . obo:DOID_11186 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B48.2"^^xsd:string, "ICD9CM:117.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:80936003"^^xsd:string, "UMLS_CUI:C0153285"^^xsd:string ; oboInOwl:hasExactSynonym "Petriellidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11186"^^xsd:string ; a owl:Class ; rdfs:label "allescheriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5597 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_11189 oboInOwl:hasDbXref "ICD10CM:K04.2"^^xsd:string, "ICD9CM:522.2"^^xsd:string, "NCI:C34962"^^xsd:string, "SNOMEDCT_US_2021_03_01:22361007"^^xsd:string, "UMLS_CUI:C0034100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulp degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_1119 oboInOwl:hasAlternativeId "DOID:10214"^^xsd:string, "DOID:1118"^^xsd:string ; oboInOwl:hasExactSynonym "Excessive fetal growth affecting management of mother, delivered"@en, "Excessive fetal growth, affecting management of mother, antepartum"@en, "Excessive fetal growth, affecting management of mother, delivered"@en, "antepartum excessive fetal growth affecting management of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1119"^^xsd:string ; a owl:Class ; rdfs:label "obsolete large for dates affecting management of mother"^^xsd:string ; owl:deprecated true . obo:DOID_11190 obo:IAO_0000115 "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.22"^^xsd:string, "ICD9CM:372.04"^^xsd:string, "NCI:C35196"^^xsd:string, "SNOMEDCT_US_2021_03_01:267643002"^^xsd:string, "UMLS_CUI:C0155144"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudomembranous conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_11193 obo:IAO_0000115 "A synostosis that results_in the fusion of two or more digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:13181"^^xsd:string, "ICD10CM:Q70"^^xsd:string, "ICD9CM:755.1"^^xsd:string, "MESH:D013576"^^xsd:string, "NCI:C87125"^^xsd:string, "ORDO:295012"^^xsd:string, "ORDO:90025"^^xsd:string, "ORDO:93403"^^xsd:string, "SNOMEDCT_US_2021_03_01:156989004"^^xsd:string, "UMLS_CUI:C0039075"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 2q35 duplication syndrome"@en, "symphalangism"@en, "symphalangy"@en, "webbing of digits"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11193"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "syndactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_11971, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ] ; skos:exactMatch "MESH:D013576"^^xsd:string . obo:DOID_11195 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation of both larynx and pharynx."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J06.0"^^xsd:string, "ICD9CM:465.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:55355000"^^xsd:string, "UMLS_CUI:C0155817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11195"^^xsd:string ; a owl:Class ; rdfs:label "acute laryngopharyngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_11197 obo:IAO_0000115 "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.23"^^xsd:string, "ICD9CM:372.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:9824006"^^xsd:string, "UMLS_CUI:C0155142"^^xsd:string ; oboInOwl:hasExactSynonym "serous conjunctivitis, except viral"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11197"^^xsd:string ; a owl:Class ; rdfs:label "serous conjunctivitis except viral"^^xsd:string ; rdfs:subClassOf obo:DOID_11184, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11198 obo:IAO_0000115 "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production."^^xsd:string ; oboInOwl:hasDbXref "GARD:10299"^^xsd:string, "ICD10CM:D82.1"^^xsd:string, "ICD9CM:279.11"^^xsd:string, "MESH:D004062"^^xsd:string, "NCI:C2989"^^xsd:string, "OMIM:188400"^^xsd:string, "SNOMEDCT_US_2021_03_01:77128003"^^xsd:string, "UMLS_CUI:C0012236"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 deletion syndrome"@en, "DiGeorge sequence"@en, "DiGeorge's syndrome"@en, "Pharyngeal pouch syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "DiGeorge syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_11199 obo:IAO_0000115 "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:6733"^^xsd:string, "ICD10CM:E20"^^xsd:string, "ICD9CM:252.1"^^xsd:string, "MESH:D007011"^^xsd:string, "NCI:C78350"^^xsd:string, "OMIM:146200"^^xsd:string, "OMIM:307700"^^xsd:string, "ORDO:2238"^^xsd:string, "SNOMEDCT_US_2021_03_01:154697005"^^xsd:string, "UMLS_CUI:C0020626"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11199"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_11201 ; skos:exactMatch "MESH:D007011"^^xsd:string . obo:DOID_112 oboInOwl:hasAlternativeId "DOID:111"^^xsd:string, "DOID:13536"^^xsd:string, "DOID:14031"^^xsd:string ; oboInOwl:hasDbXref "GARD:6384"^^xsd:string, "ICD10CM:I85.01"^^xsd:string, "ICD9CM:456.0"^^xsd:string, "ICD9CM:456.2"^^xsd:string, "ICD9CM:456.20"^^xsd:string, "NCI:C78282"^^xsd:string, "SNOMEDCT_US_2021_03_01:195475003"^^xsd:string, "SNOMEDCT_US_2021_03_01:195643006"^^xsd:string, "SNOMEDCT_US_2021_03_01:236067006"^^xsd:string, "UMLS_CUI:C0155789"^^xsd:string, "UMLS_CUI:C0155791"^^xsd:string, "UMLS_CUI:C0155792"^^xsd:string ; oboInOwl:hasExactSynonym "Bleeding esophageal varices"@en, "Bleeding oesophageal varices"@en, "esophageal varices"@en, "esophageal varices in disease classified elsewhere, with bleeding"@en, "esophageal varices with bleeding"@en, "esophageal varices with bleeding in disease EC"@en, "esophageal varices without bleeding"@en, "esophageal varices without mention of bleeding"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal varix"^^xsd:string ; rdfs:subClassOf obo:DOID_6050, obo:DOID_866 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_866 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_11200 obo:IAO_0000115 "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:613"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27145"^^xsd:string, "NCI:C27872"^^xsd:string, "SNOMEDCT_US_2021_03_01:402792003"^^xsd:string, "UMLS_CUI:C1274233"^^xsd:string, "UMLS_CUI:C1333147"^^xsd:string ; oboInOwl:hasExactSynonym "T cell immunodeficiency"@en, "T lymphocyte deficiency"@en, "T lymphocyte immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "T cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_11201 obo:IAO_0000115 "An endocrine system disease that is located_in the parathyroid gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E21.5"^^xsd:string, "ICD9CM:252.9"^^xsd:string, "MESH:D010279"^^xsd:string, "NCI:C26844"^^xsd:string, "SNOMEDCT_US_2021_03_01:73132005"^^xsd:string, "UMLS_CUI:C0030517"^^xsd:string ; oboInOwl:hasExactSynonym "disease of parathyroid glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parathyroid gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001132 ] ) ] . obo:DOID_11202 obo:IAO_0000115 "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14790"^^xsd:string ; oboInOwl:hasDbXref "GARD:8612"^^xsd:string, "ICD10CM:E21.0"^^xsd:string, "ICD9CM:252.01"^^xsd:string, "MESH:D049950"^^xsd:string, "NCI:C48280"^^xsd:string, "OMIM:600166"^^xsd:string, "ORDO:99878"^^xsd:string, "SNOMEDCT_US_2021_03_01:190452007"^^xsd:string, "SNOMEDCT_US_2021_03_01:54920000"^^xsd:string, "UMLS_CUI:C0221002"^^xsd:string, "UMLS_CUI:C0271846"^^xsd:string ; oboInOwl:hasExactSynonym "familial primary hyperparathyroidism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_13543 . obo:DOID_11203 oboInOwl:hasDbXref "ICD10CM:H10.1"^^xsd:string, "ICD9CM:372.05"^^xsd:string, "NCI:C34353"^^xsd:string, "SNOMEDCT_US_2021_03_01:193863004"^^xsd:string, "UMLS_CUI:C0001309"^^xsd:string ; oboInOwl:hasExactSynonym "Angelucci syndrome"@en, "acute atopic conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Angelucci's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11204 . obo:DOID_11204 obo:IAO_0000115 "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003233"^^xsd:string, "NCI:C34506"^^xsd:string, "SNOMEDCT_US_2021_03_01:231854006"^^xsd:string, "UMLS_CUI:C0009766"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11204"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_2475, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_11206 obo:IAO_0000115 "A substance abuse that involves the recurring use of opioid drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F11.1"^^xsd:string, "ICD9CM:305.5"^^xsd:string, "MESH:D009293"^^xsd:string, "SNOMEDCT_US_2021_03_01:5602001"^^xsd:string, "UMLS_CUI:C0029095"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11206"^^xsd:string ; a owl:Class ; rdfs:label "opioid abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_11211 obo:IAO_0000115 "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:743.21"^^xsd:string, "OMIM:231300"^^xsd:string, "SNOMEDCT_US_2021_03_01:204116009"^^xsd:string, "UMLS_CUI:C0311251"^^xsd:string ; oboInOwl:hasExactSynonym "simple buphthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11211"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "buphthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_11212 . obo:DOID_11212 obo:IAO_0000115 "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q15.0"^^xsd:string, "MESH:D006871"^^xsd:string, "NCI:C50648"^^xsd:string, "SNOMEDCT_US_2021_03_01:392368005"^^xsd:string, "UMLS_CUI:C0020302"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11212"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hydrophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_0050593 . obo:DOID_11213 obo:IAO_0000115 "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material basis in Hemophilius Aegypticus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35704"^^xsd:string, "SNOMEDCT_US_2021_03_01:240066005"^^xsd:string, "UMLS_CUI:C1313983"^^xsd:string ; oboInOwl:hasExactSynonym "Contagious opthalmia"@en, "Pink eye"@en, "Pinkeye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute contagious conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_11215 oboInOwl:hasAlternativeId "DOID:12565"^^xsd:string, "DOID:14540"^^xsd:string ; oboInOwl:hasExactSynonym "Premature rupture of membranes - delivered (disorder)"@en, "antepartum premature rupture of membranes"@en, "delivered premature rupture of membranes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete premature rupture of the fetal membranes"^^xsd:string ; owl:deprecated true . obo:DOID_11217 oboInOwl:hasDbXref "ICD10CM:H73.1"^^xsd:string, "ICD9CM:384.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:89723004"^^xsd:string, "UMLS_CUI:C0395849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11217"^^xsd:string ; a owl:Class ; rdfs:label "chronic tympanitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_11219 obo:IAO_0000115 "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.01"^^xsd:string, "ICD9CM:372.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:41308008"^^xsd:string, "UMLS_CUI:C0155143"^^xsd:string ; oboInOwl:hasExactSynonym "acute follicular conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11219"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival folliculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_1122 oboInOwl:hasExactSynonym "Spinal enthesopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1122"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinal enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_11223 oboInOwl:hasAlternativeId "DOID:11224"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:280991008"^^xsd:string, "UMLS_CUI:C0267502"^^xsd:string ; oboInOwl:hasExactSynonym "Diverticulosis of small intestine with hemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11223"^^xsd:string ; a owl:Class ; rdfs:label "small intestine diverticulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7475 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7475 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_11227 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:077.4"^^xsd:string, "MESH:D003232"^^xsd:string, "NCI:C34505"^^xsd:string, "SNOMEDCT_US_2021_03_01:186677009"^^xsd:string, "UMLS_CUI:C0009765"^^xsd:string ; oboInOwl:hasExactSynonym "Apollo disease"@en, "Epidemic hemorrhagic conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "viral conjunctivitis"@en ; oboInOwl:id "DOID:11227"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute hemorrhagic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4251, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_12089 obo:NCBITaxon_12090 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000011 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000210 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_1123 oboInOwl:hasDbXref "GARD:4971"^^xsd:string, "MESH:D025242"^^xsd:string, "SNOMEDCT_US_2021_03_01:8847002"^^xsd:string, "UMLS_CUI:C0949691"^^xsd:string ; oboInOwl:hasExactSynonym "spondarthropathy"@en, "spondylarthrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1123"^^xsd:string ; a owl:Class ; rdfs:label "spondyloarthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_11230 oboInOwl:hasDbXref "ICD10CM:H05.0"^^xsd:string, "ICD9CM:376.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:20551005"^^xsd:string, "UMLS_CUI:C0155256"^^xsd:string ; oboInOwl:hasExactSynonym "acute inflammation of orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11230"^^xsd:string ; a owl:Class ; rdfs:label "acute orbital inflammation"^^xsd:string ; rdfs:subClassOf obo:DOID_930, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11231 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.03"^^xsd:string, "ICD9CM:376.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:65974003"^^xsd:string, "UMLS_CUI:C0155257"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11231"^^xsd:string ; a owl:Class ; rdfs:label "orbital periostitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11232 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.02"^^xsd:string, "ICD9CM:376.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:65875003"^^xsd:string, "UMLS_CUI:C0155258"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11232"^^xsd:string ; a owl:Class ; rdfs:label "orbital osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230 . obo:DOID_11233 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:376.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:8976003"^^xsd:string, "UMLS_CUI:C0155259"^^xsd:string ; oboInOwl:hasExactSynonym "Tenonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11233"^^xsd:string ; a owl:Class ; rdfs:label "orbital tenonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11234 obo:IAO_0000115 "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.01"^^xsd:string, "ICD9CM:376.01"^^xsd:string, "MESH:D054517"^^xsd:string, "NCI:C99000"^^xsd:string, "SNOMEDCT_US_2021_03_01:194005002"^^xsd:string, "UMLS_CUI:C0149507"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11234"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbital cellulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_11235 obo:IAO_0000115 "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H74.1"^^xsd:string, "ICD9CM:385.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:7699004"^^xsd:string, "UMLS_CUI:C0155478"^^xsd:string ; oboInOwl:hasExactSynonym "chronic adhesive otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11235"^^xsd:string ; a owl:Class ; rdfs:label "adhesive otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_11239 obo:IAO_0000115 "A intestinal cancer that is located_in the appendix."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18.1"^^xsd:string, "ICD9CM:153.5"^^xsd:string, "MESH:D001063"^^xsd:string, "NCI:C9333"^^xsd:string, "SNOMEDCT_US_2021_03_01:93679002"^^xsd:string, "UMLS_CUI:C0496779"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of the appendix"@en, "malignant neoplasm of appendix vermiformis"@en, "malignant tumor of appendix"@en, "malignant tumor of the appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11239"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "appendix cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10155, obo:DOID_60000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001154 ] ) ] . obo:DOID_11240 oboInOwl:hasDbXref "MESH:D001063"^^xsd:string, "NCI:C4434"^^xsd:string, "SNOMEDCT_US_2021_03_01:126846004"^^xsd:string, "UMLS_CUI:C0003614"^^xsd:string ; oboInOwl:hasExactSynonym "appendix neoplasm"@en, "neoplasm of appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11240"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendiceal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4610 . obo:DOID_11241 oboInOwl:hasDbXref "NCI:C5513"^^xsd:string, "UMLS_CUI:C1332328"^^xsd:string ; oboInOwl:hasExactSynonym "Appendiceal Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11239, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11242 oboInOwl:hasDbXref "ICD10CM:P61.1"^^xsd:string, "ICD9CM:776.4"^^xsd:string, "NCI:C27069"^^xsd:string, "SNOMEDCT_US_2021_03_01:32984002"^^xsd:string, "UMLS_CUI:C0272153"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11242"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plethora of newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_11243 oboInOwl:hasDbXref "ICD10CM:P61.2"^^xsd:string, "ICD9CM:776.6"^^xsd:string, "NCI:C97167"^^xsd:string, "SNOMEDCT_US_2021_03_01:47100003"^^xsd:string, "UMLS_CUI:C0158996"^^xsd:string ; oboInOwl:hasExactSynonym "Anemia of prematurity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anemia of prematurity"^^xsd:string ; rdfs:subClassOf obo:DOID_11244 . obo:DOID_11244 oboInOwl:hasDbXref "MESH:D000751"^^xsd:string, "SNOMEDCT_US_2021_03_01:111468003"^^xsd:string, "UMLS_CUI:C0002891"^^xsd:string ; oboInOwl:hasExactSynonym "anaemia neonatal"@en, "anemia neonatal"@en, "neonatal anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11244"^^xsd:string ; a owl:Class ; rdfs:label "neonatal anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_11245 oboInOwl:hasDbXref "ICD10CM:P61.5"^^xsd:string, "ICD9CM:776.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:55444004"^^xsd:string, "UMLS_CUI:C0158997"^^xsd:string ; oboInOwl:hasExactSynonym "Transient neonatal neutropenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11245"^^xsd:string ; a owl:Class ; rdfs:label "transient neonatal neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_1227 . obo:DOID_11246 oboInOwl:hasDbXref "ICD10CM:P60"^^xsd:string, "ICD9CM:776.2"^^xsd:string, "NCI:C111856"^^xsd:string, "SNOMEDCT_US_2021_03_01:34417008"^^xsd:string, "UMLS_CUI:C0158992"^^xsd:string ; oboInOwl:hasExactSynonym "Disseminated intravascular coagulation in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11246"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "DIC in newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_11247 . obo:DOID_11247 oboInOwl:hasDbXref "ICD10CM:D65"^^xsd:string, "ICD9CM:286.6"^^xsd:string, "MESH:D004211"^^xsd:string, "NCI:C2992"^^xsd:string, "SNOMEDCT_US_2021_03_01:67406007"^^xsd:string, "UMLS_CUI:C0012739"^^xsd:string ; oboInOwl:hasExactSynonym "DIC"@en, "Defibrination syndrome"@en, "Diffuse or disseminated intravascular coagulation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11247"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "disseminated intravascular coagulation"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_11248 oboInOwl:hasExactSynonym "Hemorrhagic diathesis of newborn"@en, "Hemorrhagic disease of newborn"@en, "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)"@en, "hemorrhagic disease of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11248"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hemorrhagic disease of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11249 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E56.1"^^xsd:string, "ICD9CM:269.0"^^xsd:string, "MESH:D014813"^^xsd:string, "NCI:C99108"^^xsd:string, "SNOMEDCT_US_2021_03_01:52675005"^^xsd:string, "UMLS_CUI:C0042880"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of vitamin K"@en, "vitamin K deficiency"@en, "vitamin K deficiency hemorrhagic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11249"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vitamin K deficiency bleeding"^^xsd:string ; rdfs:subClassOf obo:DOID_5113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_11252 oboInOwl:hasDbXref "MESH:C562385"^^xsd:string, "OMIM:206200"^^xsd:string, "SNOMEDCT_US_2021_03_01:722005000"^^xsd:string, "UMLS_CUI:C0085576"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "microcytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_11254 obo:IAO_0000115 "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A75.1"^^xsd:string, "ICD9CM:081.1"^^xsd:string, "MESH:D014438"^^xsd:string, "SNOMEDCT_US_2021_03_01:47761007"^^xsd:string, "UMLS_CUI:C0006181"^^xsd:string ; oboInOwl:hasExactSynonym "Brill Zinsser disease"@en, "Brill's disease"@en, "Recrudescent typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Latent typhus"@en, "Sporadic typhus"@en ; oboInOwl:id "DOID:11254"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brill-Zinsser disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050480 . obo:DOID_11256 obo:IAO_0000115 "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11255"^^xsd:string, "DOID:12353"^^xsd:string ; oboInOwl:hasDbXref "GARD:7833"^^xsd:string, "ICD10CM:A75.0"^^xsd:string, "ICD10CM:A75.2"^^xsd:string, "ICD10CM:A75.9"^^xsd:string, "ICD9CM:080"^^xsd:string, "ICD9CM:081.0"^^xsd:string, "ICD9CM:081.9"^^xsd:string, "MESH:D014437"^^xsd:string, "MESH:D014438"^^xsd:string, "NCI:C84688"^^xsd:string, "NCI:C84689"^^xsd:string, "SNOMEDCT_US_2021_03_01:154375001"^^xsd:string, "SNOMEDCT_US_2021_03_01:25668000"^^xsd:string, "SNOMEDCT_US_2021_03_01:39111003"^^xsd:string, "UMLS_CUI:C0041471"^^xsd:string, "UMLS_CUI:C0041472"^^xsd:string, "UMLS_CUI:C0041473"^^xsd:string ; oboInOwl:hasExactSynonym "Endemic Typhus fever"@en, "Exanthematic Typhus fever"@en, "Flea typhus"@en, "Louse-borne [epidemic] typhus"@en, "Moscow typhus"@en, "Murine [endemic] typhus"@en, "Typhus fever"@en, "endemic flea-borne typhus"@en, "epidemic louse-borne typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Classical typhus"@en, "Epidemic (louse-borne) typhus"@en, "Epidemic louse-borne typhus fever due to Rickettsia prowazekii"@en, "European typhus"@en, "Exanthematous typhus"@en, "Famine fever"@en, "Flea-borne rickettsiosis"@en, "Flea-borne typhus"@en, "Hospital fever"@en, "Jail fever"@en, "Louse-borne rickettsiosis"@en, "Louse-borne typhus"@en, "Mexican typhus"@en, "Murine typhus"@en, "Petechial fever"@en, "Prison fever"@en, "Rat flea typhus"@en, "Ship fever"@en, "Shop typhus"@en, "Typhus exanthematique"@en, "Urban typhus"@en ; oboInOwl:id "DOID:11256"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_780 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ] . obo:DOID_11257 obo:IAO_0000115 "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F40.1"^^xsd:string, "ICD9CM:300.23"^^xsd:string, "MESH:D000072861"^^xsd:string, "NCI:C34927"^^xsd:string, "SNOMEDCT_US_2021_03_01:192395002"^^xsd:string, "UMLS_CUI:C0031572"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11257"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "social phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_591 . obo:DOID_11258 obo:IAO_0000115 "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A28.1"^^xsd:string, "ICD9CM:078.3"^^xsd:string, "MESH:D002372"^^xsd:string, "NCI:C84620"^^xsd:string, "SNOMEDCT_US_2021_03_01:123319006"^^xsd:string, "UMLS_CUI:C0007361"^^xsd:string ; oboInOwl:hasExactSynonym "Debre's Syndrome"@en, "Debre-Mollaret Syndrome"@en, "Foshay-Mollaret Cat Scratch Fever"@en, "benign lymphoreticulosis"@en, "cat scratch fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cat-scratch disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, obo:DOID_9942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_38323 obo:NCBITaxon_56426 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] . obo:DOID_11259 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions."^^xsd:string ; oboInOwl:hasExactSynonym "Cytomagalovirus infection"@en, "Cytomegaloviral disease"@en, "Cytomegaloviral disease, unspecified"@en, "Cytomegaloviral disease, unspecified (disorder)"@en, "Cytomegalovirus infection (disorder)"@en, "Salivary gland virus disease"@en, "cytomegalovirus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11259"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11260 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7516"^^xsd:string, "ICD10CM:A82"^^xsd:string, "ICD9CM:071"^^xsd:string, "MESH:D011818"^^xsd:string, "NCI:C28182"^^xsd:string, "SNOMEDCT_US_2021_03_01:14168008"^^xsd:string, "UMLS_CUI:C0034494"^^xsd:string ; oboInOwl:hasExactSynonym "Lyssa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11260"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "rabies"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11261 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness."^^xsd:string ; oboInOwl:hasExactSynonym "Epizootic stomatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11261"^^xsd:string ; a owl:Class ; rdfs:label "obsolete foot and mouth disease"^^xsd:string ; owl:deprecated true . obo:DOID_11262 obo:IAO_0000115 "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A70"^^xsd:string, "ICD9CM:073"^^xsd:string, "MESH:D009956"^^xsd:string, "NCI:C34873"^^xsd:string, "SNOMEDCT_US_2021_03_01:154369005"^^xsd:string, "UMLS_CUI:C0029291"^^xsd:string ; oboInOwl:hasExactSynonym "psittacosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "ornithosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_83554 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000009 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11263 obo:IAO_0000115 "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis."^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydia trachomatis infectious disease"@en, "Chlamydial Infection"@en, "chlamydial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11263"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "chlamydia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11264 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11264"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11265 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13013"^^xsd:string, "DOID:13264"^^xsd:string ; oboInOwl:hasDbXref "GARD:10374"^^xsd:string, "ICD10CM:A71"^^xsd:string, "ICD10CM:A71.0"^^xsd:string, "ICD10CM:A71.1"^^xsd:string, "ICD9CM:076"^^xsd:string, "ICD9CM:076.0"^^xsd:string, "ICD9CM:076.1"^^xsd:string, "MESH:D014141"^^xsd:string, "SNOMEDCT_US_2021_03_01:154367007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29976007"^^xsd:string, "SNOMEDCT_US_2021_03_01:52812002"^^xsd:string, "UMLS_CUI:C0040592"^^xsd:string, "UMLS_CUI:C0153107"^^xsd:string, "UMLS_CUI:C0153108"^^xsd:string ; oboInOwl:hasExactSynonym "active stage trachoma"@en, "trachoma dubium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11265"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "trachoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000007 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_11266 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A98.5"^^xsd:string, "ICD9CM:078.6"^^xsd:string, "MESH:D006480"^^xsd:string, "NCI:C84753"^^xsd:string, "SNOMEDCT_US_2021_03_01:186701001"^^xsd:string, "UMLS_CUI:C0019101"^^xsd:string ; oboInOwl:hasExactSynonym "HFRS"@en, "Hemorrhagic fever, Russian"@en, "Hemorrhagic nephrosonephritis"@en, "Puumala virus nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11266"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Hantavirus hemorrhagic fever with renal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_557, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1980467 obo:NCBITaxon_1980471 obo:NCBITaxon_1980486 obo:NCBITaxon_1980490 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000083 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000367 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000760 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_11267 oboInOwl:hasDbXref "GARD:6825"^^xsd:string, "ICD10CM:H18.44"^^xsd:string, "ICD9CM:371.45"^^xsd:string, "MESH:C536156"^^xsd:string, "SNOMEDCT_US_2021_03_01:85149007"^^xsd:string, "UMLS_CUI:C0152455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11267"^^xsd:string ; a owl:Class ; rdfs:label "keratomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11268 oboInOwl:hasExactSynonym "vitamin A deficiency with keratomalacia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with keratomalacia"^^xsd:string ; owl:deprecated true . obo:DOID_11269 oboInOwl:hasDbXref "ICD10CM:K04.5"^^xsd:string, "ICD9CM:522.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:718052004"^^xsd:string, "UMLS_CUI:C0392492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11269"^^xsd:string ; a owl:Class ; rdfs:label "chronic apical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_11271 oboInOwl:hasAlternativeId "DOID:11270"^^xsd:string, "DOID:14011"^^xsd:string, "DOID:14012"^^xsd:string ; oboInOwl:hasExactSynonym "hypertension secondary to renal disease, antepartum"@en, "hypertension secondary to renal disease, postpartum"@en, "hypertension secondary to renal disease, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11271"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_11275 oboInOwl:hasExactSynonym "Syphilis of muscle (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11275"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete muscle syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11277 oboInOwl:hasDbXref "ICD10CM:E05.2"^^xsd:string, "ICD9CM:242.3"^^xsd:string, "NCI:C35171"^^xsd:string, "SNOMEDCT_US_2021_03_01:57777000"^^xsd:string, "UMLS_CUI:C0342127"^^xsd:string ; oboInOwl:hasExactSynonym "Plummer disease"@en, "Toxic nodular Goiter"@en, "Toxic nodular goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Plummer's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7998 . obo:DOID_11282 oboInOwl:hasDbXref "ICD10CM:H31.02"^^xsd:string, "ICD9CM:363.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:1135000"^^xsd:string, "UMLS_CUI:C0152131"^^xsd:string ; oboInOwl:hasExactSynonym "Solar retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11282"^^xsd:string ; a owl:Class ; rdfs:label "solar retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11086 . obo:DOID_11283 oboInOwl:hasDbXref "ICD9CM:363.34"^^xsd:string, "UMLS_CUI:C0154888"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11283"^^xsd:string ; a owl:Class ; rdfs:label "peripheral scars of retina"^^xsd:string ; rdfs:subClassOf obo:DOID_11086 . obo:DOID_11284 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated scars of retina"^^xsd:string ; owl:deprecated true . obo:DOID_11285 obo:IAO_0000115 "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage."^^xsd:string ; oboInOwl:hasDbXref "GARD:7771"^^xsd:string, "MESH:D013985"^^xsd:string, "SNOMEDCT_US_2021_03_01:74225001"^^xsd:string, "UMLS_CUI:C0040197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11285"^^xsd:string ; a owl:Class ; rdfs:label "tick paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_4109, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000032 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000538 ] ; skos:exactMatch "MESH:D013985"^^xsd:string . obo:DOID_11286 oboInOwl:hasExactSynonym "Toxic myoneural disorder"@en, "Toxic myoneural junction disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuromuscular junction toxic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11287 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete conditions involving the integument and temperature regulation of fetus and newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11289 obo:IAO_0000115 "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.7"^^xsd:string, "ICD9CM:495.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:48347002"^^xsd:string, "UMLS_CUI:C0155891"^^xsd:string ; oboInOwl:hasExactSynonym "Air-conditioner and humidifier lung"@en, "Humidifier lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11289"^^xsd:string ; a owl:Class ; rdfs:label "ventilation pneumonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_841 . obo:DOID_1129 oboInOwl:hasDbXref "MESH:D010899"^^xsd:string, "NCI:C26853"^^xsd:string, "SNOMEDCT_US_2021_03_01:237701005"^^xsd:string, "UMLS_CUI:C0032001"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary apoplexy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1129"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary apoplexy"^^xsd:string ; rdfs:subClassOf obo:DOID_1130 . obo:DOID_11294 obo:IAO_0000115 "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I77.0"^^xsd:string, "NCI:C2882"^^xsd:string, "SNOMEDCT_US_2021_03_01:403966009"^^xsd:string, "UMLS_CUI:C0334533"^^xsd:string ; oboInOwl:hasExactSynonym "Arteriovenous hemangioma"@en, "Cirsoid aneurysm"@en, "Racemose Angioma"@en, "Racemose aneurysm"@en, "Racemose hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11294"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arteriovenous malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_11295 oboInOwl:hasDbXref "ICD9CM:362.14"^^xsd:string, "MESH:D000071071"^^xsd:string, "SNOMEDCT_US_2021_03_01:34037000"^^xsd:string, "UMLS_CUI:C0154834"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11295"^^xsd:string ; a owl:Class ; rdfs:label "retinal microaneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_2462 . obo:DOID_11299 oboInOwl:hasDbXref "ICD10CM:I65.0"^^xsd:string, "ICD9CM:433.2"^^xsd:string, "UMLS_CUI:C0155724"^^xsd:string ; oboInOwl:hasExactSynonym "Occlusion and stenosis of vertebral artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11299"^^xsd:string ; a owl:Class ; rdfs:label "vertebral artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_5976 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5976 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001535 ] ) ] . obo:DOID_113 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pneumopericardium"^^xsd:string ; owl:deprecated true . obo:DOID_1130 oboInOwl:hasDbXref "NCI:C27117"^^xsd:string, "SNOMEDCT_US_2021_03_01:95830009"^^xsd:string, "UMLS_CUI:C0342405"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary infarct"^^xsd:string ; rdfs:subClassOf obo:DOID_3646 . obo:DOID_11302 obo:IAO_0000115 "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:9747"^^xsd:string, "ICD10CM:B65.3"^^xsd:string, "ICD9CM:120.3"^^xsd:string, "NCI:C34457"^^xsd:string, "SNOMEDCT_US_2021_03_01:187115002"^^xsd:string, "UMLS_CUI:C0546996"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous schistosomiasis"@en, "Sea bather's eruption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cercarial dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_11307 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic state latent schizophrenia with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_11308 oboInOwl:hasExactSynonym "Latent schizophrenia in remission (disorder)"@en, "Latent schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11308"^^xsd:string ; a owl:Class ; rdfs:label "obsolete latent schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11309 oboInOwl:hasExactSynonym "Latent chronic Schizophrenia"@en, "Latent schizophrenia, chronic state"@en, "chronic latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_11312 oboInOwl:hasDbXref "ICD9CM:426.12"^^xsd:string, "NCI:C62018"^^xsd:string, "SNOMEDCT_US_2021_03_01:28189009"^^xsd:string, "UMLS_CUI:C0155700"^^xsd:string ; oboInOwl:hasExactSynonym "Mobitz (type) II atrioventricular block"@en, "Mobitz II atrioventricular block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mobitz type II atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050822 . obo:DOID_11314 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma duboisii with retinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11314"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii retinitis"^^xsd:string ; owl:deprecated true . obo:DOID_11315 obo:IAO_0000115 "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:115.10"^^xsd:string, "UMLS_CUI:C0153270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11315"^^xsd:string ; a owl:Class ; rdfs:label "African histoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1731, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_11316 oboInOwl:hasDbXref "ICD9CM:115.92"^^xsd:string, "SNOMEDCT_US_2021_03_01:187058000"^^xsd:string, "UMLS_CUI:C0153278"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11316"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis retinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3612 . obo:DOID_11320 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems."^^xsd:string ; oboInOwl:hasDbXref "GARD:8257"^^xsd:string, "ICD10CM:A98.2"^^xsd:string, "ICD9CM:065.2"^^xsd:string, "MESH:D007733"^^xsd:string, "SNOMEDCT_US_2021_03_01:23097003"^^xsd:string, "UMLS_CUI:C0022810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11320"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Kyasanur forest disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_33743 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11327 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11327"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_11328 obo:IAO_0000115 "A psychotic disorder that involves schizophrenia symptoms over time period of one month."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F20.81"^^xsd:string, "ICD9CM:295.4"^^xsd:string, "MESH:D011618"^^xsd:string, "NCI:C94376"^^xsd:string, "SNOMEDCT_US_2021_03_01:88975006"^^xsd:string, "UMLS_CUI:C0036358"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizophreniform disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2468 . obo:DOID_11329 obo:IAO_0000115 "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later."^^xsd:string ; oboInOwl:hasDbXref "GARD:9512"^^xsd:string, "ICD10CM:L94.6"^^xsd:string, "ICD9CM:136.0"^^xsd:string, "MESH:D000387"^^xsd:string, "NCI:C84544"^^xsd:string, "OMIM:103400"^^xsd:string, "SNOMEDCT_US_2021_03_01:51404004"^^xsd:string, "UMLS_CUI:C0001860"^^xsd:string ; oboInOwl:hasExactSynonym "Ainhum"@en, "Dactylolysis spontanea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ainhum"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; skos:exactMatch "MESH:D000387"^^xsd:string . obo:DOID_11330 oboInOwl:hasDbXref "GARD:6370"^^xsd:string, "ICD10CM:A46"^^xsd:string, "ICD9CM:035"^^xsd:string, "MESH:D004886"^^xsd:string, "SNOMEDCT_US_2021_03_01:266005008"^^xsd:string, "UMLS_CUI:C0014733"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11330"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "erysipelas"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_11335 obo:IAO_0000115 "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7607"^^xsd:string, "ICD10CM:D86"^^xsd:string, "ICD9CM:135"^^xsd:string, "MESH:D012507"^^xsd:string, "NCI:C34995"^^xsd:string, "ORDO:797"^^xsd:string, "SNOMEDCT_US_2021_03_01:154425004"^^xsd:string, "UMLS_CUI:C0036202"^^xsd:string ; oboInOwl:hasExactSynonym "Boeck sarcoid"@en, "lymphogranulomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 ; skos:exactMatch "MESH:D012507"^^xsd:string . obo:DOID_11336 obo:IAO_0000115 "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:040.1"^^xsd:string, "MESH:D012226"^^xsd:string, "SNOMEDCT_US_2021_03_01:72409005"^^xsd:string, "UMLS_CUI:C0035468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11336"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "rhinoscleroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338 . obo:DOID_11337 obo:IAO_0000115 "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling."^^xsd:string ; oboInOwl:hasDbXref "GARD:6882"^^xsd:string, "ICD9CM:040.3"^^xsd:string, "MESH:D005674"^^xsd:string, "SNOMEDCT_US_2021_03_01:52542005"^^xsd:string, "UMLS_CUI:C0027537"^^xsd:string ; oboInOwl:hasExactSynonym "Lemierre syndrome"@en, "human necrobacillosis"@en, "postanginal sepsis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acute sore throat"@en ; oboInOwl:id "DOID:11337"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Lemierre's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000634 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11338 obo:IAO_0000115 "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli."^^xsd:string ; oboInOwl:hasDbXref "GARD:5144"^^xsd:string, "ICD10CM:A35"^^xsd:string, "ICD9CM:037"^^xsd:string, "MESH:D013742"^^xsd:string, "NCI:C85185"^^xsd:string, "SNOMEDCT_US_2021_03_01:154312006"^^xsd:string, "UMLS_CUI:C0039614"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Clostridium tetani"@en, "clostridial tetanus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11338"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tetanus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1513 ] . obo:DOID_11339 obo:IAO_0000115 "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever."^^xsd:string ; oboInOwl:hasDbXref "GARD:4386"^^xsd:string, "ICD10CM:B59"^^xsd:string, "ICD9CM:136.3"^^xsd:string, "MESH:D011020"^^xsd:string, "NCI:C3334"^^xsd:string, "SNOMEDCT_US_2021_03_01:57541005"^^xsd:string, "UMLS_CUI:C1535939"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumocystis carinii pneumonia"@en, "Pneumocystis jirovecii pneumonia"@en, "Pneumocystis pneumonia"@en, "Pneumocystosis"@en, "Pneumocystosis pneumonia"@en, "pulmonary pneumocystosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumocystosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_42068 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_1134 oboInOwl:hasAlternativeId "DOID:1133"^^xsd:string, "DOID:13280"^^xsd:string, "DOID:13901"^^xsd:string, "DOID:2405"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K06.0"^^xsd:string, "ICD10CM:K06.01"^^xsd:string, "ICD9CM:523.2"^^xsd:string, "ICD9CM:523.24"^^xsd:string, "MESH:D005889"^^xsd:string, "NCI:C82068"^^xsd:string, "SNOMEDCT_US_2021_03_01:155645006"^^xsd:string, "SNOMEDCT_US_2021_03_01:59898000"^^xsd:string, "UMLS_CUI:C0017572"^^xsd:string, "UMLS_CUI:C0266916"^^xsd:string ; oboInOwl:hasExactSynonym "Gingival recession"@en, "Gingival recession, localized"@en, "localized gingival recession"@en, "minimal gingival recession"@en, "moderate gingival recession"@en, "severe gingival recession"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gingival recession"^^xsd:string ; rdfs:subClassOf obo:DOID_1483 . obo:DOID_11340 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Pneumocystis carinii (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pneumocystis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11341 obo:IAO_0000115 "A lung disease that is a mycosis caused by fungal growth in the lungs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11341"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fungal lung infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11342 oboInOwl:hasDbXref "ICD10CM:H18.41"^^xsd:string, "MESH:D001112"^^xsd:string, "OMIM:107800"^^xsd:string, "SNOMEDCT_US_2021_03_01:155159000"^^xsd:string, "UMLS_CUI:C0003742"^^xsd:string ; oboInOwl:hasExactSynonym "Arcus of cornea"@en, "corneal arcus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11342"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "arcus senilis"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11343 obo:IAO_0000115 "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15"^^xsd:string, "MESH:D015422"^^xsd:string, "NCI:C79717"^^xsd:string, "SNOMEDCT_US_2021_03_01:33064008"^^xsd:string, "UMLS_CUI:C0036412"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11343"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scleral disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_11346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11346"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital osteodystrophy"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11347 oboInOwl:hasExactSynonym "Inactive Meniere's disease"@en, "Mnire's disease in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11347"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Meniere's disease in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11349 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11349"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epilepsia partialis continua"^^xsd:string ; owl:deprecated true . obo:DOID_11350 oboInOwl:hasExactSynonym "Grand mal status"@en, "Grand mal status (disorder)"@en, "Grand mal status, epileptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11350"^^xsd:string ; a owl:Class ; rdfs:label "obsolete grand mal status epilepticus"^^xsd:string ; owl:deprecated true . obo:DOID_11352 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11352"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epilepsia partialis continua with intractable epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_11353 oboInOwl:hasDbXref "ICD10CM:N32.3"^^xsd:string, "ICD9CM:596.3"^^xsd:string, "MESH:C562406"^^xsd:string, "NCI:C160155"^^xsd:string, "OMIM:109820"^^xsd:string, "SNOMEDCT_US_2021_03_01:268335001"^^xsd:string, "UMLS_CUI:C0156273"^^xsd:string ; oboInOwl:hasExactSynonym "Diverticulum - bladder"@en, "Diverticulum of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11353"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "bladder diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_11354 oboInOwl:hasDbXref "ICD10CM:N21.0"^^xsd:string, "ICD9CM:594.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:18109005"^^xsd:string, "UMLS_CUI:C0156265"^^xsd:string ; oboInOwl:hasExactSynonym "calculus in diverticulum of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11354"^^xsd:string ; a owl:Class ; rdfs:label "stone in bladder diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_11353 . obo:DOID_11355 oboInOwl:hasDbXref "ICD10CM:N21.0"^^xsd:string, "MESH:D001744"^^xsd:string, "SNOMEDCT_US_2021_03_01:155879005"^^xsd:string, "UMLS_CUI:C0005683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11355"^^xsd:string ; a owl:Class ; rdfs:label "bladder calculus"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_9590, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_11360 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A93.1"^^xsd:string, "ICD9CM:066.0"^^xsd:string, "MESH:D010217"^^xsd:string, "SNOMEDCT_US_2021_03_01:33670001"^^xsd:string, "UMLS_CUI:C0030372"^^xsd:string ; oboInOwl:hasExactSynonym "Sandfly fever"@en, "Sandfly-borne arboviral fever"@en, "Sandfly-borne bunyavirus fever"@en, "Sandfly-borne phleboviral disease"@en, "pappataci fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11360"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Phlebotomus fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_206160 obo:NCBITaxon_28292 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_29031 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ] . obo:DOID_11361 oboInOwl:hasExactSynonym "Tick-borne fever (disorder)"@en, "Tick-borne fever NOS (disorder)"@en, "pasture fever"@en, "tick-borne fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11361"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete tickborne fever"^^xsd:string ; owl:deprecated true . obo:DOID_11364 oboInOwl:hasDbXref "ICD10CM:H27.11"^^xsd:string, "ICD9CM:379.32"^^xsd:string, "MESH:D007906"^^xsd:string, "NCI:C34772"^^xsd:string, "SNOMEDCT_US_2021_03_01:155203002"^^xsd:string, "UMLS_CUI:C0023316"^^xsd:string ; oboInOwl:hasExactSynonym "Subluxation of lens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11364"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lens subluxation"^^xsd:string ; rdfs:subClassOf obo:DOID_110 ; skos:exactMatch "MESH:D007906"^^xsd:string . obo:DOID_11367 oboInOwl:hasDbXref "ICD10CM:Q12.3"^^xsd:string, "ICD9CM:743.35"^^xsd:string, "NCI:C35172"^^xsd:string, "OMIM:610256"^^xsd:string, "SNOMEDCT_US_2021_03_01:35387008"^^xsd:string, "UMLS_CUI:C0152422"^^xsd:string ; oboInOwl:hasExactSynonym "APHAKIA, CONGENITAL PRIMARY"@en, "Congenital absence of lens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11367"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital aphakia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_110, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_11371 oboInOwl:hasDbXref "ICD10CM:K59.1"^^xsd:string, "ICD9CM:564.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:47812002"^^xsd:string, "UMLS_CUI:C0156173"^^xsd:string ; oboInOwl:hasExactSynonym "Functional diarrhea"@en, "Functional diarrhoea"@en, "functional diarrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11371"^^xsd:string ; a owl:Class ; rdfs:label "functional diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_11372 obo:IAO_0000115 "A colonic disease that is characterized by an abnormal dilation of the colon."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1771"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K59.39"^^xsd:string, "MESH:D008531"^^xsd:string, "NCI:C34810"^^xsd:string, "SNOMEDCT_US_2021_03_01:33995003"^^xsd:string, "UMLS_CUI:C0025160"^^xsd:string ; oboInOwl:hasExactSynonym "Dilatation of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11372"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "megacolon"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_11374 oboInOwl:hasDbXref "ICD10CM:K59.4"^^xsd:string, "ICD9CM:564.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:197136003"^^xsd:string, "UMLS_CUI:C0152167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11374"^^xsd:string ; a owl:Class ; rdfs:label "anal spasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3128 . obo:DOID_11377 oboInOwl:hasAlternativeId "DOID:11376"^^xsd:string ; oboInOwl:hasExactSynonym "calculus of gallbladder and bile duct with acute cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11377"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder and bile duct with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11379 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9286"^^xsd:string, "ICD10CM:B83.1"^^xsd:string, "ICD9CM:128.1"^^xsd:string, "MESH:D058429"^^xsd:string, "NCI:C128395"^^xsd:string, "SNOMEDCT_US_2021_03_01:44086001"^^xsd:string, "UMLS_CUI:C0018013"^^xsd:string ; oboInOwl:hasExactSynonym "Gnathostomiasis"@en, "Infectious Disease by Gnathostoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gnathomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_61463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1138 oboInOwl:hasDbXref "GARD:10264"^^xsd:string, "MESH:D008579"^^xsd:string, "NCI:C6935"^^xsd:string, "SNOMEDCT_US_2021_03_01:189167009"^^xsd:string, "UMLS_CUI:C0347515"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal Cord meningioma"@en, "Spinal meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_11382 oboInOwl:hasDbXref "ICD10CM:H16.4"^^xsd:string, "ICD9CM:370.6"^^xsd:string, "MESH:D016510"^^xsd:string, "SNOMEDCT_US_2021_03_01:19161004"^^xsd:string, "UMLS_CUI:C0085109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11382"^^xsd:string ; a owl:Class ; rdfs:label "corneal neovascularization"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_11383 oboInOwl:hasDbXref "ICD10CM:Q53.9"^^xsd:string, "ICD9CM:752.51"^^xsd:string, "MESH:D003456"^^xsd:string, "NCI:C12326"^^xsd:string, "OMIM:219050"^^xsd:string, "SNOMEDCT_US_2021_03_01:204879009"^^xsd:string, "UMLS_CUI:C0010417"^^xsd:string ; oboInOwl:hasExactSynonym "Cryptorchism"@en, "Undescended testicle"@en, "Undescended testis"@en, "undescended testicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11383"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cryptorchidism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_11385 obo:IAO_0000115 "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.1"^^xsd:string, "ICD9CM:315.31"^^xsd:string, "NCI:C92562"^^xsd:string, "SNOMEDCT_US_2021_03_01:80360005"^^xsd:string, "UMLS_CUI:C0236826"^^xsd:string ; oboInOwl:hasExactSynonym "Developmental expressive language disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11385"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "expressive language disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_93 . obo:DOID_11387 obo:IAO_0000115 "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges)."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020802"^^xsd:string, "SNOMEDCT_US_2021_03_01:310671007"^^xsd:string, "UMLS_CUI:C0270629"^^xsd:string ; oboInOwl:hasExactSynonym "abscess epidural"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11387"^^xsd:string ; a owl:Class ; rdfs:label "epidural abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003691 ] ) ] . obo:DOID_11389 obo:IAO_0000115 "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013354"^^xsd:string, "SNOMEDCT_US_2021_03_01:37660004"^^xsd:string, "UMLS_CUI:C0038539"^^xsd:string ; oboInOwl:hasExactSynonym "Subdural abscess"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11389"^^xsd:string ; a owl:Class ; rdfs:label "subdural empyema"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_11390 oboInOwl:hasDbXref "ICD9CM:437.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:28366008"^^xsd:string, "UMLS_CUI:C0007773"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral arteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11390"^^xsd:string ; a owl:Class ; rdfs:label "cerebral arteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_11394 obo:IAO_0000115 "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia."^^xsd:string ; oboInOwl:hasDbXref "GARD:5698"^^xsd:string, "ICD10CM:J80"^^xsd:string, "MESH:D012128"^^xsd:string, "NCI:C3353"^^xsd:string, "SNOMEDCT_US_2021_03_01:155627006"^^xsd:string, "UMLS_CUI:C0035222"^^xsd:string ; oboInOwl:hasExactSynonym "ARDS"@en, "Non-cardiogenic pulmonary edema"@en, "Shock lung"@en, "acute respiratory distress syndrome"^^xsd:string, "adult RDS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "adult respiratory distress syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11162, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_11396 obo:IAO_0000115 "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13472"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J81"^^xsd:string, "MESH:D011654"^^xsd:string, "NCI:C26868"^^xsd:string, "SNOMEDCT_US_2021_03_01:19242006"^^xsd:string, "UMLS_CUI:C0034063"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11396"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_114 obo:IAO_0000115 "A cardiovascular system disease that involves the heart."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I51.9"^^xsd:string, "ICD9CM:429.9"^^xsd:string, "MESH:D006331"^^xsd:string, "NCI:C3079"^^xsd:string, "SNOMEDCT_US_2021_03_01:194707003"^^xsd:string, "UMLS_CUI:C0018799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:114"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_1140 oboInOwl:hasDbXref "NCI:C5134"^^xsd:string, "UMLS_CUI:C1334264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_11400 oboInOwl:hasDbXref "ICD10CM:N16"^^xsd:string, "ICD9CM:590.80"^^xsd:string, "MESH:D011704"^^xsd:string, "NCI:C34965"^^xsd:string, "SNOMEDCT_US_2021_03_01:45816000"^^xsd:string, "UMLS_CUI:C0034186"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2744 . obo:DOID_11401 oboInOwl:hasDbXref "MESH:D011705"^^xsd:string, "NCI:C123038"^^xsd:string, "SNOMEDCT_US_2021_03_01:197777006"^^xsd:string, "UMLS_CUI:C0034188"^^xsd:string ; oboInOwl:hasExactSynonym "Xanthogranulomatous pyelonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "xanthogranulomatous pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1076 . obo:DOID_11403 oboInOwl:hasExactSynonym "Drug-induced depressive state (disorder)"@en, "Drug-induced mood disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11403"^^xsd:string ; a owl:Class ; rdfs:label "obsolete depressive state induced by drug"^^xsd:string ; owl:deprecated true . obo:DOID_11404 obo:IAO_0000115 "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough."^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal Diphtheria"@en, "laryngeal diphtheria"@en, "laryngeal diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11404"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete diphtheritic laryngotracheitis"^^xsd:string ; owl:deprecated true . obo:DOID_11405 obo:IAO_0000115 "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4132"^^xsd:string ; oboInOwl:hasDbXref "GARD:1875"^^xsd:string, "MESH:D003354"^^xsd:string, "SNOMEDCT_US_2021_03_01:397434007"^^xsd:string, "UMLS_CUI:C0010153"^^xsd:string ; oboInOwl:hasExactSynonym "corynebacterium infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11405"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "diphtheria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1717 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 ) ] ] . obo:DOID_11406 oboInOwl:hasDbXref "GARD:6062"^^xsd:string, "ICD10CM:H30.9"^^xsd:string, "MESH:D002833"^^xsd:string, "NCI:C35111"^^xsd:string, "SNOMEDCT_US_2021_03_01:16553002"^^xsd:string, "UMLS_CUI:C0008526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1417 . obo:DOID_11409 oboInOwl:hasExactSynonym "Syphilitic disseminated retinochoroiditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11409"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic disseminated chorioretinitis"^^xsd:string ; owl:deprecated true . obo:DOID_1141 oboInOwl:hasExactSynonym "Alternating exotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1141"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alternating exotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11418 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal urethritis (disorder)"@en, "trichomonal urethritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11418"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_1142 oboInOwl:hasDbXref "ICD10CM:H50.15"^^xsd:string, "ICD9CM:378.15"^^xsd:string, "MESH:D005099"^^xsd:string, "SNOMEDCT_US_2021_03_01:194093000"^^xsd:string, "UMLS_CUI:C0152207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1142"^^xsd:string ; a owl:Class ; rdfs:label "alternating exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_1143 . obo:DOID_11421 oboInOwl:hasExactSynonym "Cavovarus deformity of foot, acquired"@en, "acquired cavovarus deformity of foot (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11421"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired cavovarus foot deformity"^^xsd:string ; owl:deprecated true . obo:DOID_11424 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.2"^^xsd:string, "ICD9CM:617.2"^^xsd:string, "NCI:C26763"^^xsd:string, "SNOMEDCT_US_2021_03_01:22611009"^^xsd:string, "UMLS_CUI:C0014177"^^xsd:string ; oboInOwl:hasExactSynonym "Endometriosis of fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11424"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube endometriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1962, obo:DOID_289 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_11427 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40121"^^xsd:string, "SNOMEDCT_US_2021_03_01:55850004"^^xsd:string, "UMLS_CUI:C0269106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endosalpingiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11428 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.5"^^xsd:string, "ICD9CM:617.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:5562006"^^xsd:string, "UMLS_CUI:C0156347"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11428"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of intestine"^^xsd:string ; rdfs:subClassOf obo:DOID_289, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_11429 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.3"^^xsd:string, "ICD9CM:617.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:198251001"^^xsd:string, "UMLS_CUI:C0156345"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11429"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of pelvic peritoneum"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_1143 oboInOwl:hasDbXref "ICD10CM:H50.1"^^xsd:string, "ICD9CM:378.1"^^xsd:string, "MESH:D005099"^^xsd:string, "NCI:C34601"^^xsd:string, "SNOMEDCT_US_2021_03_01:155194007"^^xsd:string, "UMLS_CUI:C0015310"^^xsd:string ; oboInOwl:hasExactSynonym "Divergent Strabismus"@en, "Divergent concomitant strabismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_11430 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.6"^^xsd:string, "ICD9CM:617.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:53913001"^^xsd:string, "UMLS_CUI:C0156348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11430"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis in scar of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11431 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.4"^^xsd:string, "ICD9CM:617.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:198253003"^^xsd:string, "UMLS_CUI:C0156346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11431"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of rectovaginal septum and vagina"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11432 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11426"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.1"^^xsd:string, "ICD9CM:617.1"^^xsd:string, "NCI:C27628"^^xsd:string, "SNOMEDCT_US_2021_03_01:198250000"^^xsd:string, "UMLS_CUI:C0156344"^^xsd:string ; oboInOwl:hasExactSynonym "ovarian endometriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometriosis of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_1100, obo:DOID_289 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_11436 oboInOwl:hasExactSynonym "recurrent cholesteatoma of postmastoidectomy cavity"@en, "recurrent cholesteatoma of postmastoidectomy cavity (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11436"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cholesteatoma post-mastoidectomy"^^xsd:string ; owl:deprecated true . obo:DOID_11441 oboInOwl:hasExactSynonym "Macrodactylia of toes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11441"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macrodactylia of toes"^^xsd:string ; owl:deprecated true . obo:DOID_11442 oboInOwl:hasExactSynonym "Mast cell malignancy of lymph nodes of head, face and neck (disorder)"@en, "malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)"@en, "malignant mast cell tumors involving lymph nodes of head, face, and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11442"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant mast cell tumors involving lymph node of head"^^xsd:string ; owl:deprecated true . obo:DOID_11446 oboInOwl:hasDbXref "MESH:D020426"^^xsd:string, "SNOMEDCT_US_2021_03_01:52585001"^^xsd:string, "UMLS_CUI:C0149940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11446"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "sciatic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12528 . obo:DOID_11450 obo:IAO_0000115 "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Allergic Cutaneous Angiitis"@en, "Autoimmune Hypersensitivity angiitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11450"^^xsd:string ; a owl:Class ; rdfs:label "allergic cutaneous vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_9809, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_11451 oboInOwl:hasExactSynonym "acute secondary syphilitic meningitis (disorder)"@en, "acute syphilitic meningitis (secondary)"@en, "secondary acute syphilitic meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11451"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11452 oboInOwl:hasDbXref "ICD9CM:774.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:206463003"^^xsd:string, "UMLS_CUI:C0158976"^^xsd:string ; oboInOwl:hasExactSynonym "Perinatal jaundice due to hepatocellular damage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11452"^^xsd:string ; a owl:Class ; rdfs:label "perinatal jaundice due to hepatocellular damage"^^xsd:string ; rdfs:subClassOf obo:DOID_2383 . obo:DOID_11457 obo:IAO_0000115 "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G93.5"^^xsd:string, "ICD9CM:348.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:46963008"^^xsd:string, "UMLS_CUI:C0009592"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11457"^^xsd:string ; a owl:Class ; rdfs:label "brain compression"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_11459 oboInOwl:hasDbXref "GARD:4561"^^xsd:string, "ICD10CM:G93.2"^^xsd:string, "ICD9CM:348.2"^^xsd:string, "MESH:D011559"^^xsd:string, "NCI:C85035"^^xsd:string, "OMIM:243200"^^xsd:string, "SNOMEDCT_US_2021_03_01:68267002"^^xsd:string, "UMLS_CUI:C0033845"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudotumor cerebri"@en, "benign intracran. hypt."@en, "benign intracranial hypertension"@en, "idiopathic intracranial hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudotumor cerebri"^^xsd:string ; rdfs:subClassOf obo:DOID_9428, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_11465 oboInOwl:hasDbXref "ICD9CM:337.1"^^xsd:string, "UMLS_CUI:C0154691"^^xsd:string ; oboInOwl:hasExactSynonym "autonomic nervous system disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11465"^^xsd:string ; a owl:Class ; rdfs:label "autonomic nervous system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002410 ] ) ] . obo:DOID_11472 oboInOwl:hasDbXref "ICD10CM:C32.2"^^xsd:string, "ICD9CM:161.2"^^xsd:string, "NCI:C3546"^^xsd:string, "SNOMEDCT_US_2021_03_01:94075002"^^xsd:string, "UMLS_CUI:C0153485"^^xsd:string ; oboInOwl:hasExactSynonym "Ca larynx - subglottis"@en, "malignant Subglottic tumor"@en, "malignant tumor of subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2596 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036068 ] ) ] . obo:DOID_11476 obo:IAO_0000115 "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003882"^^xsd:string, "ICD10CM:M81.0"^^xsd:string, "ICD9CM:733.0"^^xsd:string, "MESH:D010024"^^xsd:string, "NCI:C3298"^^xsd:string, "OMIM:166710"^^xsd:string, "SNOMEDCT_US_2021_03_01:156825006"^^xsd:string, "UMLS_CUI:C0029456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080011 . obo:DOID_1148 obo:IAO_0000115 "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14779"^^xsd:string ; oboInOwl:hasDbXref "GARD:4410"^^xsd:string, "ICD10CM:Q69"^^xsd:string, "ICD9CM:755.0"^^xsd:string, "MESH:C562429"^^xsd:string, "MESH:D017689"^^xsd:string, "NCI:C87110"^^xsd:string, "OMIM:174200"^^xsd:string, "OMIM:174500"^^xsd:string, "OMIM:174700"^^xsd:string, "OMIM:603596"^^xsd:string, "SNOMEDCT_US_2021_03_01:205119005"^^xsd:string, "UMLS_CUI:C0152427"^^xsd:string, "UMLS_CUI:C0220697"^^xsd:string ; oboInOwl:hasExactSynonym "postaxial polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Supernumerary digit"@en ; oboInOwl:id "DOID:1148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ] . obo:DOID_11481 oboInOwl:hasDbXref "ICD9CM:423.2"^^xsd:string, "MESH:D010494"^^xsd:string, "NCI:C78246"^^xsd:string, "SNOMEDCT_US_2021_03_01:155340008"^^xsd:string, "UMLS_CUI:C0031048"^^xsd:string ; oboInOwl:hasExactSynonym "Constrictive pericarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11481"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "constrictive pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_11482 obo:IAO_0000115 "A pericardial effusion that results from blood in the pericardial sac."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:423.0"^^xsd:string, "MESH:D010490"^^xsd:string, "NCI:C111644"^^xsd:string, "SNOMEDCT_US_2021_03_01:155339006"^^xsd:string, "UMLS_CUI:C0019064"^^xsd:string ; oboInOwl:hasExactSynonym "Haemopericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemopericardium"^^xsd:string ; rdfs:subClassOf obo:DOID_118 . obo:DOID_11486 oboInOwl:hasDbXref "GARD:6670"^^xsd:string, "ICD10CM:G90.2"^^xsd:string, "MESH:D006732"^^xsd:string, "NCI:C28155"^^xsd:string, "OMIM:143000"^^xsd:string, "SNOMEDCT_US_2021_03_01:192922002"^^xsd:string, "UMLS_CUI:C0019937"^^xsd:string ; oboInOwl:hasExactSynonym "Bernard Horner syndrome"@en, "Horner syndrome"@en, "cervical sympathetic paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Horner's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11504 . obo:DOID_11488 oboInOwl:hasDbXref "ICD10CM:G90.0"^^xsd:string, "ICD9CM:337.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:192914009"^^xsd:string, "UMLS_CUI:C0154690"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic peripheral autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11488"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic peripheral autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_11489 oboInOwl:hasExactSynonym "vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)"@en, "vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot"^^xsd:string ; owl:deprecated true . obo:DOID_11490 oboInOwl:hasExactSynonym "vitamin A deficiency with night blindness (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11490"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with night blindness"^^xsd:string ; owl:deprecated true . obo:DOID_11491 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.62"^^xsd:string, "ICD9CM:368.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:53808001"^^xsd:string, "UMLS_CUI:C0152202"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11491"^^xsd:string ; a owl:Class ; rdfs:label "acquired night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_115 obo:IAO_0000115 "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I31.4"^^xsd:string, "ICD9CM:423.3"^^xsd:string, "MESH:D002305"^^xsd:string, "NCI:C50481"^^xsd:string, "SNOMEDCT_US_2021_03_01:266295005"^^xsd:string, "UMLS_CUI:C0007177"^^xsd:string ; oboInOwl:hasExactSynonym "Rose's tamponade"@en, "pericardial tamponade"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:115"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac tamponade"^^xsd:string ; rdfs:subClassOf obo:DOID_118 . obo:DOID_1150 oboInOwl:hasAlternativeId "DOID:11173"^^xsd:string, "DOID:1149"^^xsd:string, "DOID:1292"^^xsd:string ; oboInOwl:hasExactSynonym "bone and joint disorder of back, pelvis and lower limbs of mother, antepartum"@en, "bone and joint disorder of back, pelvis and lower limbs of mother, postpartum"@en, "bone and joint disorder of back, pelvis and lower limbs of mother, with delivery"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_11502 oboInOwl:hasAlternativeId "DOID:11737"^^xsd:string, "DOID:13947"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q23.3"^^xsd:string, "ICD9CM:396.3"^^xsd:string, "ICD9CM:746.6"^^xsd:string, "MESH:D008944"^^xsd:string, "NCI:C50888"^^xsd:string, "SNOMEDCT_US_2021_03_01:194736003"^^xsd:string, "SNOMEDCT_US_2021_03_01:194977007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29928006"^^xsd:string, "UMLS_CUI:C0026266"^^xsd:string, "UMLS_CUI:C0158619"^^xsd:string, "UMLS_CUI:C0264774"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital insufficiency of mitral valve"@en, "Mitral valve incompetence"@en, "congenital mitral insufficiency"@en, "congenital mitral regurgitation"@en, "mitral regurgitation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11502"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitral valve insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_61 . obo:DOID_11503 oboInOwl:hasDbXref "MESH:D003929"^^xsd:string, "NCI:C27068"^^xsd:string, "SNOMEDCT_US_2021_03_01:50620007"^^xsd:string, "UMLS_CUI:C0271686"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetic autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11503"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11504 . obo:DOID_11504 oboInOwl:hasDbXref "NCI:C27033"^^xsd:string, "SNOMEDCT_US_2021_03_01:277879009"^^xsd:string, "UMLS_CUI:C0259749"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_11506 obo:IAO_0000115 "A otitis media which involves inflammation of the middle ear with infected effusion containing pus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.4"^^xsd:string, "ICD9CM:382.4"^^xsd:string, "MESH:D010035"^^xsd:string, "SNOMEDCT_US_2021_03_01:267758003"^^xsd:string, "UMLS_CUI:C0029888"^^xsd:string ; oboInOwl:hasExactSynonym "Otitis media with effusion - purulent"@en, "Purulent otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11506"^^xsd:string ; a owl:Class ; rdfs:label "suppurative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_11507 obo:IAO_0000115 "An eating disorder that is characterized by effortless regurgitation of most meals following consumption."^^xsd:string ; oboInOwl:hasDbXref "GARD:7594"^^xsd:string, "ICD9CM:307.53"^^xsd:string, "MESH:D000079562"^^xsd:string, "NCI:C92567"^^xsd:string, "SNOMEDCT_US_2021_03_01:37941009"^^xsd:string, "UMLS_CUI:C0154575"^^xsd:string ; oboInOwl:hasExactSynonym "Psychogenic rumination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11507"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rumination disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_11512 oboInOwl:hasDbXref "ICD10CM:I82.0"^^xsd:string, "MESH:D006502"^^xsd:string, "OMIM:600880"^^xsd:string, "SNOMEDCT_US_2021_03_01:195436007"^^xsd:string, "UMLS_CUI:C0019154"^^xsd:string ; oboInOwl:hasExactSynonym "hepatic vein thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11512"^^xsd:string ; a owl:Class ; rdfs:label "Budd-Chiari syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_11514 oboInOwl:hasDbXref "ICD10CM:K14.5"^^xsd:string, "ICD9CM:529.5"^^xsd:string, "MESH:D014063"^^xsd:string, "OMIM:137400"^^xsd:string, "SNOMEDCT_US_2021_03_01:52368004"^^xsd:string, "UMLS_CUI:C0040412"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital fissure of tongue"@en, "Congenital plicated tongue"@en, "Fissure of tongue"@en, "Fissure of tongue, congenital"@en, "Furrowed tongue"@en, "Plicated tongue"@en, "Tongue, Fissured"@en, "geographic tongue and fissured tongue"@en, "lingua plicata"@en, "scrotal tongue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11514"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fissured tongue"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 . obo:DOID_11516 obo:IAO_0000115 "A heart disease that is caused by high blood pressure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I11"^^xsd:string, "ICD9CM:402"^^xsd:string, "NCI:C157879"^^xsd:string, "SNOMEDCT_US_2021_03_01:155297007"^^xsd:string, "UMLS_CUI:C0152105"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11516"^^xsd:string ; a owl:Class ; rdfs:label "hypertensive heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_11518 oboInOwl:hasDbXref "ICD10CM:H57.09"^^xsd:string, "ICD9CM:379.49"^^xsd:string, "UMLS_CUI:C0155376"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11518"^^xsd:string ; a owl:Class ; rdfs:label "abnormal pupillary function"^^xsd:string ; rdfs:subClassOf obo:DOID_238 . obo:DOID_11520 oboInOwl:hasDbXref "ICD9CM:403.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:193003"^^xsd:string, "UMLS_CUI:C0155596"^^xsd:string ; oboInOwl:hasExactSynonym "hypertensive renal disease, benign"@en, "hypertensive renal disease, benign, without mention of renal failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11520"^^xsd:string ; a owl:Class ; rdfs:label "benign hypertensive renal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1073 . obo:DOID_11523 obo:IAO_0000115 "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas."^^xsd:string ; oboInOwl:hasExactSynonym "Clostridium perfringens food poisoning"@en, "Food poisoning due to C. welchii"@en, "Food poisoning due to Clostridium perfringens (disorder)"@en, "Food poisoning due to Clostridium perfringens [C. welchii]"@en, "food poisoning due to clostridium perfringens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11523"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Clostridium perfringens gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11524 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11524"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hyphema of iris and ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_11525 oboInOwl:hasExactSynonym "vascular disorder of iris and ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11525"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iris and ciliary body vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11527 oboInOwl:hasDbXref "ICD10CM:J38.6"^^xsd:string, "ICD9CM:478.74"^^xsd:string, "MESH:D007829"^^xsd:string, "NCI:C79608"^^xsd:string, "SNOMEDCT_US_2021_03_01:195864007"^^xsd:string, "UMLS_CUI:C0023075"^^xsd:string ; oboInOwl:hasExactSynonym "Stenosis of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11527"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngostenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_786 . obo:DOID_11535 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dysplasia of prostate"^^xsd:string ; owl:deprecated true . obo:DOID_11541 oboInOwl:hasDbXref "ICD10CM:H18.83"^^xsd:string, "ICD9CM:371.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:2055003"^^xsd:string, "UMLS_CUI:C0155119"^^xsd:string ; oboInOwl:hasExactSynonym "recurrent erosion of cornea"@en, "recurrent erosion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11541"^^xsd:string ; a owl:Class ; rdfs:label "recurrent corneal erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11543 oboInOwl:hasDbXref "ICD10CM:H16.31"^^xsd:string, "ICD9CM:370.55"^^xsd:string, "NCI:C26969"^^xsd:string, "SNOMEDCT_US_2021_03_01:64366002"^^xsd:string, "UMLS_CUI:C0155091"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11543"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_9858 . obo:DOID_11547 oboInOwl:hasDbXref "ICD10CM:H18.00"^^xsd:string, "ICD9CM:371.10"^^xsd:string, "SNOMEDCT_US_2021_03_01:74460005"^^xsd:string, "UMLS_CUI:C0162281"^^xsd:string ; oboInOwl:hasExactSynonym "Deposits - cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11547"^^xsd:string ; a owl:Class ; rdfs:label "corneal deposit"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11549 obo:IAO_0000115 "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon."^^xsd:string ; oboInOwl:hasDbXref "GARD:5749"^^xsd:string, "MESH:D000270"^^xsd:string, "NCI:C34357"^^xsd:string, "OMIM:103100"^^xsd:string, "SNOMEDCT_US_2021_03_01:123051004"^^xsd:string, "UMLS_CUI:C0001519"^^xsd:string ; oboInOwl:hasExactSynonym "Adie's pupil or syndrome"@en, "Adie's pupil syndrome"@en, "Adie's syndrome"@en, "Holmes-Adie syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11549"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Adie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:D000270"^^xsd:string . obo:DOID_11550 oboInOwl:hasDbXref "ICD10CM:H49.0"^^xsd:string, "MESH:D015840"^^xsd:string, "NCI:C27597"^^xsd:string, "SNOMEDCT_US_2021_03_01:12900003"^^xsd:string, "UMLS_CUI:C0028866"^^xsd:string ; oboInOwl:hasExactSynonym "III nerve palsy"@en, "IIIrd nerve Paralysis"@en, "Third cranial nerve paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11550"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oculomotor nerve paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_562 . obo:DOID_11552 oboInOwl:hasDbXref "ICD10CM:H18.31"^^xsd:string, "ICD9CM:371.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:45382000"^^xsd:string, "UMLS_CUI:C0155115"^^xsd:string ; oboInOwl:hasExactSynonym "Bowman membrane folds or rupture"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11552"^^xsd:string ; a owl:Class ; rdfs:label "Bowman's membrane folds or rupture"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11554 obo:IAO_0000115 "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.51"^^xsd:string, "ICD9CM:371.57"^^xsd:string, "MESH:D057129"^^xsd:string, "SNOMEDCT_US_2021_03_01:404632009"^^xsd:string, "UMLS_CUI:C0544008"^^xsd:string ; oboInOwl:hasExactSynonym "Chandler's syndrome"@en, "Dystrophy of corneal endothelium"@en, "Endothelial corneal dystrophy"@en, "Posterior membrane corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11554"^^xsd:string ; a owl:Class ; rdfs:label "Chandler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_11555 obo:IAO_0000115 "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003946"^^xsd:string, "GARD:10018"^^xsd:string, "ICD10CM:H18.51"^^xsd:string, "MESH:D005642"^^xsd:string, "NCI:C84721"^^xsd:string, "OMIM:136800"^^xsd:string, "OMIM:610158"^^xsd:string, "OMIM:613267"^^xsd:string, "OMIM:613268"^^xsd:string, "OMIM:613269"^^xsd:string, "OMIM:613270"^^xsd:string, "OMIM:613271"^^xsd:string, "OMIM:615523"^^xsd:string, "ORDO:98974"^^xsd:string, "SNOMEDCT_US_2021_03_01:16949007"^^xsd:string, "UMLS_CUI:C0016781"^^xsd:string ; oboInOwl:hasExactSynonym "FCED"@en, "Fuchs' corneal dystrophy"@en, "Fuchs' endothelial corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11555"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Fuchs' endothelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060443 . obo:DOID_11557 obo:IAO_0000115 "A acute transudative otitis media with thin, watery and sterile effusion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65.0"^^xsd:string, "ICD9CM:381.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:11957006"^^xsd:string, "UMLS_CUI:C0155415"^^xsd:string ; oboInOwl:hasExactSynonym "acute non-suppurative otitis media - serous"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11557"^^xsd:string ; a owl:Class ; rdfs:label "acute serous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_3697 . obo:DOID_11558 obo:IAO_0000115 "A acute serous otitis media caused by an allergen."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:194241005"^^xsd:string, "UMLS_CUI:C0155418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11558"^^xsd:string ; a owl:Class ; rdfs:label "acute allergic serous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11557, obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_1156 obo:IAO_0000115 "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11303"^^xsd:string, "DOID:1155"^^xsd:string, "DOID:12090"^^xsd:string, "DOID:12102"^^xsd:string, "DOID:12945"^^xsd:string, "DOID:13298"^^xsd:string, "DOID:13299"^^xsd:string, "DOID:13301"^^xsd:string, "DOID:13302"^^xsd:string, "DOID:13303"^^xsd:string, "DOID:13304"^^xsd:string, "DOID:14143"^^xsd:string, "DOID:14220"^^xsd:string, "DOID:14513"^^xsd:string, "DOID:1834"^^xsd:string, "DOID:1945"^^xsd:string, "DOID:2486"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:712.1"^^xsd:string, "NCI:C34955"^^xsd:string, "OMIM:118600"^^xsd:string, "OMIM:118610"^^xsd:string, "OMIM:600668"^^xsd:string, "ORDO:1416"^^xsd:string, "SNOMEDCT_US_2021_03_01:201624004"^^xsd:string, "SNOMEDCT_US_2021_03_01:201625003"^^xsd:string, "UMLS_CUI:C0033802"^^xsd:string, "UMLS_CUI:C0157852"^^xsd:string ; oboInOwl:hasExactSynonym "calcium pyrophosphate deposition disease"@en, "pseudogout"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1156"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "chondrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_11561 oboInOwl:hasDbXref "ICD10CM:H35.03"^^xsd:string, "ICD9CM:362.11"^^xsd:string, "MESH:D058437"^^xsd:string, "NCI:C3514"^^xsd:string, "SNOMEDCT_US_2021_03_01:422001004"^^xsd:string, "UMLS_CUI:C0152132"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11561"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertensive retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_11563 obo:IAO_0000115 "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.06"^^xsd:string, "ICD9CM:362.18"^^xsd:string, "MESH:D031300"^^xsd:string, "SNOMEDCT_US_2021_03_01:77628002"^^xsd:string, "UMLS_CUI:C0152026"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal vasculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11563"^^xsd:string ; a owl:Class ; rdfs:label "retinal vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_865 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_11569 obo:IAO_0000115 "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:306.2"^^xsd:string, "MESH:D009449"^^xsd:string, "SNOMEDCT_US_2021_03_01:46219009"^^xsd:string, "UMLS_CUI:C0027821"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular malfunction arising from mental factors"@en, "Cardiovascular neurosis"@en, "Da Costa's syndrome"@en, "Krishaber's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11569"^^xsd:string ; a owl:Class ; rdfs:label "neurocirculatory asthenia"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_11572 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008584"^^xsd:string, "SNOMEDCT_US_2021_03_01:230151007"^^xsd:string, "UMLS_CUI:C0025293"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11572"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Listeria meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_11573 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A32"^^xsd:string, "ICD9CM:027.0"^^xsd:string, "MESH:D008088"^^xsd:string, "NCI:C82994"^^xsd:string, "SNOMEDCT_US_2021_03_01:186315001"^^xsd:string, "UMLS_CUI:C0023860"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Listeria monocytogenes"@en, "Listeria infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "listeriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1637 obo:NCBITaxon_1639 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_11574 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in streptococcal bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G00.2"^^xsd:string, "ICD9CM:320.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:4510004"^^xsd:string, "UMLS_CUI:C0154639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11574"^^xsd:string ; a owl:Class ; rdfs:label "streptococcal meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_11575 oboInOwl:hasExactSynonym "Pneumococcal meningitis"@en, "Pneumococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11575"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11577 obo:IAO_0000115 "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord."^^xsd:string ; oboInOwl:hasDbXref "GARD:10987"^^xsd:string, "ICD10CM:G83.4"^^xsd:string, "ICD9CM:344.6"^^xsd:string, "MESH:D000077684"^^xsd:string, "NCI:C35436"^^xsd:string, "SNOMEDCT_US_2021_03_01:89356000"^^xsd:string, "UMLS_CUI:C0392548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cauda equina syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012337 ] ) ] . obo:DOID_11578 oboInOwl:hasExactSynonym "Escherichia coli meningitis (disorder)"@en, "Meningitis due to E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11578"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11581 oboInOwl:hasDbXref "ICD10CM:H16.25"^^xsd:string, "ICD9CM:370.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:193773009"^^xsd:string, "UMLS_CUI:C0155080"^^xsd:string ; oboInOwl:hasExactSynonym "Phlyctenular keratoconjunctivitis"@en, "Strumous ophthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11581"^^xsd:string ; a owl:Class ; rdfs:label "phlyctenulosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_11582 oboInOwl:hasExactSynonym "Syphilitic aortitis"@en, "Syphilitic aortitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11582"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic aortitis"^^xsd:string ; owl:deprecated true . obo:DOID_11584 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11584"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11589 oboInOwl:hasDbXref "ICD10CM:G90.1"^^xsd:string, "MESH:D004402"^^xsd:string, "NCI:C84706"^^xsd:string, "OMIM:223900"^^xsd:string, "SNOMEDCT_US_2021_03_01:204087006"^^xsd:string, "UMLS_CUI:C0013364"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN III"@en, "familial autonomic nervous dysfunction"@en, "familial dysautonomia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11589"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Riley-Day syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_1159 oboInOwl:hasDbXref "ICD9CM:536.8"^^xsd:string, "UMLS_CUI:C0013396"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1159"^^xsd:string ; a owl:Class ; rdfs:label "functional gastric disease"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_11593 oboInOwl:hasDbXref "ICD10CM:C67.2"^^xsd:string, "ICD9CM:188.2"^^xsd:string, "NCI:C12333"^^xsd:string, "SNOMEDCT_US_2021_03_01:93863000"^^xsd:string, "UMLS_CUI:C0496828"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral Wall of bladder"@en, "malignant neoplasm of lateral wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder lateral wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11594 oboInOwl:hasDbXref "ICD10CM:H15.85"^^xsd:string, "ICD9CM:379.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:5299007"^^xsd:string, "UMLS_CUI:C0155363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11594"^^xsd:string ; a owl:Class ; rdfs:label "ring staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11595 . obo:DOID_11595 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:111534007"^^xsd:string, "UMLS_CUI:C0155359"^^xsd:string ; oboInOwl:hasExactSynonym "Scleral ectasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11595"^^xsd:string ; a owl:Class ; rdfs:label "scleral staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11343 . obo:DOID_11597 oboInOwl:hasExactSynonym "Cold injury syndrome of newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11597"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cold injury syndrome of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11599 oboInOwl:hasDbXref "GARD:6467"^^xsd:string, "MESH:D013547"^^xsd:string, "OMIM:144100"^^xsd:string, "SNOMEDCT_US_2021_03_01:56046002"^^xsd:string, "UMLS_CUI:C0038994"^^xsd:string ; oboInOwl:hasExactSynonym "Baillarger syndrome"@en, "gustatory hyperhidrosis"@en, "gustatory sweating"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11599"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Frey syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_116 oboInOwl:hasAlternativeId "DOID:5780"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C38.0"^^xsd:string, "NCI:C4567"^^xsd:string, "NCI:C4651"^^xsd:string, "SNOMEDCT_US_2021_03_01:126734005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93957005"^^xsd:string, "UMLS_CUI:C0346609"^^xsd:string, "UMLS_CUI:C0349574"^^xsd:string ; oboInOwl:hasExactSynonym "Pericardial tumor"@en, "malignant neoplasm of pericardium"@en, "malignant tumor of Pericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:116"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829, obo:DOID_117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] ) ] . obo:DOID_11600 oboInOwl:hasExactSynonym "secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)"@en, "secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)"@en, "secondary and unspecified malignant neoplasm of lymph nodes of multiple sites"@en, "secondary malignant neoplasm of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of lymph nodes of multiple site"^^xsd:string ; owl:deprecated true . obo:DOID_11603 obo:IAO_0000115 "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P83.4"^^xsd:string, "ICD9CM:778.7"^^xsd:string, "MESH:D006177"^^xsd:string, "NCI:C117312"^^xsd:string, "SNOMEDCT_US_2021_03_01:34831003"^^xsd:string, "UMLS_CUI:C1449721"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal gynaecomastia"@en, "breast engorgement in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infant gynecomastia"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_11604 oboInOwl:hasExactSynonym "Hydrops fetalis not due to isoimmunization"@en, "Idiopathic hydrops fetalis (disorder)"@en, "Idiopathic hydrops fetalis (disorder) [Ambiguous]"@en, "Non-immune hydrops fetalis"@en, "Non-immune hydrops fetalis (disorder)"@en, "Perinatal skin prob. NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_11606 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11606"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ileal disease"^^xsd:string ; owl:deprecated true . obo:DOID_11607 obo:IAO_0000115 "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses."^^xsd:string ; oboInOwl:hasExactSynonym "Candida meningitis"@en, "Candidal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11607"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11608 obo:IAO_0000115 "A meningitis that has_material_basis_in a fungal infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016921"^^xsd:string, "SNOMEDCT_US_2021_03_01:24321005"^^xsd:string, "UMLS_CUI:C0085438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11608"^^xsd:string ; a owl:Class ; rdfs:label "fungal meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_11612 obo:IAO_0000115 "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000660"^^xsd:string, "ICD10CM:E28.2"^^xsd:string, "ICD9CM:256.4"^^xsd:string, "MESH:D011085"^^xsd:string, "NCI:C26862"^^xsd:string, "OMIM:184700"^^xsd:string, "SNOMEDCT_US_2021_03_01:69878008"^^xsd:string, "UMLS_CUI:C0032460"^^xsd:string ; oboInOwl:hasExactSynonym "Multicystic ovaries"@en, "PCOS"@en, "Polycystic Ovarian disease"@en, "Polycystic ovaries"@en, "Polycystic ovary syndrome"@en, "Stein-Leventhal synd."@en, "Stein-Leventhal syndrome"@en, "polycystic ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11612"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "polycystic ovary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1414 . obo:DOID_11613 oboInOwl:hasDbXref "MESH:D017588"^^xsd:string, "SNOMEDCT_US_2021_03_01:237793004"^^xsd:string, "UMLS_CUI:C0206081"^^xsd:string ; oboInOwl:hasExactSynonym "hyperandrogenization syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11613"^^xsd:string ; a owl:Class ; rdfs:label "hyperandrogenism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_11615 oboInOwl:hasAlternativeId "DOID:11614"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C60"^^xsd:string, "ICD10CM:C60.2"^^xsd:string, "ICD9CM:187.3"^^xsd:string, "ICD9CM:187.4"^^xsd:string, "MESH:D010412"^^xsd:string, "NCI:C7547"^^xsd:string, "SNOMEDCT_US_2021_03_01:93716006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93954003"^^xsd:string, "UMLS_CUI:C0153600"^^xsd:string, "UMLS_CUI:C0153601"^^xsd:string ; oboInOwl:hasExactSynonym "Ca penis"@en, "Penile Ca"@en, "malignant Penile tumor"@en, "malignant neoplasm of body of penis"@en, "penile neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "penile cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1529, obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_11623 oboInOwl:hasDbXref "ICD10CM:K04.1"^^xsd:string, "ICD9CM:522.1"^^xsd:string, "MESH:D003790"^^xsd:string, "SNOMEDCT_US_2021_03_01:196332000"^^xsd:string, "UMLS_CUI:C0011407"^^xsd:string ; oboInOwl:hasExactSynonym "necrosis of the pulp"@en, "necrotic pulp"@en, "pulp necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11623"^^xsd:string ; a owl:Class ; rdfs:label "dental pulp necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_11624 oboInOwl:hasDbXref "MESH:D010412"^^xsd:string, "NCI:C3317"^^xsd:string, "SNOMEDCT_US_2021_03_01:126896003"^^xsd:string, "UMLS_CUI:C0030849"^^xsd:string ; oboInOwl:hasExactSynonym "Penile tumor"@en, "neoplasm of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11624"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penile benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_1529 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_11629 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.84"^^xsd:string, "ICD9CM:618.83"^^xsd:string, "UMLS_CUI:C1456255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11629"^^xsd:string ; a owl:Class ; rdfs:label "pelvic muscle wasting"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_11633 oboInOwl:hasDbXref "MESH:D018382"^^xsd:string, "NCI:C85191"^^xsd:string, "OMIM:188570"^^xsd:string, "OMIM:274300"^^xsd:string, "SNOMEDCT_US_2021_03_01:50375007"^^xsd:string, "UMLS_CUI:C2940786"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized thyroid hormone resistance"@en, "Refetoff syndrome"@en, "Thyroid hormone resistance syndrome"@en, "Thyroid hormone responsiveness defect"@en, "thyroid hormone resistance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thyroid hormone resistance syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_11634 oboInOwl:hasDbXref "ICD10CM:E03.9"^^xsd:string, "MESH:D009230"^^xsd:string, "NCI:C34834"^^xsd:string, "OMIM:255900"^^xsd:string, "SNOMEDCT_US_2021_03_01:190274003"^^xsd:string, "UMLS_CUI:C0027145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myxedema"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_11637 oboInOwl:hasDbXref "ICD10CM:H52.53"^^xsd:string, "ICD9CM:367.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:30069002"^^xsd:string, "UMLS_CUI:C0152196"^^xsd:string ; oboInOwl:hasExactSynonym "Spasm of accommodation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11637"^^xsd:string ; a owl:Class ; rdfs:label "accommodative spasm"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_11638 oboInOwl:hasDbXref "ICD10CM:H52.4"^^xsd:string, "ICD9CM:367.4"^^xsd:string, "MESH:D011305"^^xsd:string, "SNOMEDCT_US_2021_03_01:155135005"^^xsd:string, "UMLS_CUI:C0033075"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11638"^^xsd:string ; a owl:Class ; rdfs:label "presbyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_11649 oboInOwl:hasExactSynonym "Idiopathic tachypnea of newborn"@en, "Transitory tachypnea of newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11649"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitory tachypnea of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11650 oboInOwl:hasAlternativeId "DOID:11651"^^xsd:string ; oboInOwl:hasExactSynonym "Bronchopulmonary dysplasia of newborn (disorder)"@en, "Perinatal bronchopulmonary dysplasia"@en, "neonatal chronic respiratory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11650"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bronchopulmonary dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_11653 oboInOwl:hasDbXref "ICD10CM:H11.11"^^xsd:string, "ICD9CM:372.56"^^xsd:string, "SNOMEDCT_US_2021_03_01:62660000"^^xsd:string, "UMLS_CUI:C0162280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11653"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival deposit"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_11654 oboInOwl:hasExactSynonym "Naevus fuscocerulophthalmomaxillaris"@en, "Naevus fusoceruleus ophthalmomaxillaris"@en, "Oculocutaneous melanocytic nevus"@en, "Oculodermal malanocytosis"@en, "nevus of Ota (disorder)"@en, "primary acquired melanosis"@en, "primary acquired melanosis of conjunctiva (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11654"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nevus of ota"^^xsd:string ; owl:deprecated true . obo:DOID_11656 obo:IAO_0000115 "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11655"^^xsd:string ; oboInOwl:hasDbXref "GARD:5913"^^xsd:string, "ICD10CM:L12.1"^^xsd:string, "ICD9CM:694.6"^^xsd:string, "ICD9CM:694.61"^^xsd:string, "MESH:D010390"^^xsd:string, "NCI:C34907"^^xsd:string, "OMIM:164185"^^xsd:string, "SNOMEDCT_US_2021_03_01:34250006"^^xsd:string, "SNOMEDCT_US_2021_03_01:76092003"^^xsd:string, "UMLS_CUI:C0030804"^^xsd:string, "UMLS_CUI:C0157721"^^xsd:string ; oboInOwl:hasExactSynonym "Cicatricial pemphigoid with ocular involvement"@en, "Ocular pemphigoid"@en, "benign mucous membrane pemphigoid"@en, "benign mucous membrane pemphigoid with ocular involvement"@en, "ocular pemphigus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cicatricial pemphigoid"^^xsd:string ; rdfs:subClassOf obo:DOID_0080841 . obo:DOID_1166 obo:IAO_0000115 "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1165"^^xsd:string, "DOID:1177"^^xsd:string, "DOID:1178"^^xsd:string, "DOID:1179"^^xsd:string, "DOID:12951"^^xsd:string, "DOID:13354"^^xsd:string, "DOID:13355"^^xsd:string, "DOID:13771"^^xsd:string ; oboInOwl:hasDbXref "GARD:7304"^^xsd:string, "ICD10CM:M12.3"^^xsd:string, "ICD9CM:719.3"^^xsd:string, "ICD9CM:719.31"^^xsd:string, "MESH:C538103"^^xsd:string, "SNOMEDCT_US_2021_03_01:202455001"^^xsd:string, "SNOMEDCT_US_2021_03_01:202457009"^^xsd:string, "UMLS_CUI:C0085574"^^xsd:string, "UMLS_CUI:C0158178"^^xsd:string ; oboInOwl:hasExactSynonym "Hench's syndrome"@en, "Hench-Rosenberg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1166"^^xsd:string ; a owl:Class ; rdfs:label "palindromic rheumatism"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_11661 obo:IAO_0000115 "A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.55"^^xsd:string, "ICD9CM:368.53"^^xsd:string, "MESH:D003117"^^xsd:string, "OMIM:190900"^^xsd:string, "SNOMEDCT_US_2021_03_01:51886007"^^xsd:string, "UMLS_CUI:C0155017"^^xsd:string ; oboInOwl:hasExactSynonym "Tritan defect"@en, "Tritanopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11661"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blue color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13399, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_11662 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11662"^^xsd:string ; a owl:Class ; rdfs:label "obsolete color vision defect"^^xsd:string ; owl:deprecated true . obo:DOID_11664 oboInOwl:hasDbXref "GARD:7179"^^xsd:string, "ICD10CM:I12"^^xsd:string, "ICD9CM:587"^^xsd:string, "MESH:D009400"^^xsd:string, "SNOMEDCT_US_2021_03_01:194773000"^^xsd:string, "UMLS_CUI:C0027719"^^xsd:string ; oboInOwl:hasExactSynonym "renal sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11664"^^xsd:string ; a owl:Class ; rdfs:label "nephrosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1073 . obo:DOID_11665 oboInOwl:hasDbXref "ICD10CM:Q91.7"^^xsd:string, "ICD9CM:758.1"^^xsd:string, "MESH:D000073839"^^xsd:string, "NCI:C101223"^^xsd:string, "SNOMEDCT_US_2021_03_01:21111006"^^xsd:string, "UMLS_CUI:C0152095"^^xsd:string ; oboInOwl:hasExactSynonym "D1 Trisomy"@en, "trisomy 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Patau's syndrome"@en ; oboInOwl:id "DOID:11665"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Patau syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 . obo:DOID_11668 obo:IAO_0000115 "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.73"^^xsd:string, "ICD9CM:374.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:193958004"^^xsd:string, "UMLS_CUI:C0155212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11668"^^xsd:string ; a owl:Class ; rdfs:label "hypopigmentation of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_10123, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11669 oboInOwl:hasDbXref "ICD10CM:H02.86"^^xsd:string, "ICD9CM:374.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:79830009"^^xsd:string, "UMLS_CUI:C0155213"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11669"^^xsd:string ; a owl:Class ; rdfs:label "hypertrichosis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_420, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11671 oboInOwl:hasDbXref "ICD10CM:H02.72"^^xsd:string, "ICD9CM:374.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:193959007"^^xsd:string, "UMLS_CUI:C0155214"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11671"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_4535, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11678 obo:IAO_0000115 "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "GARD:7252"^^xsd:string, "ICD10CM:B73"^^xsd:string, "ICD9CM:125.3"^^xsd:string, "MESH:D009855"^^xsd:string, "NCI:C34861"^^xsd:string, "SNOMEDCT_US_2021_03_01:38539003"^^xsd:string, "UMLS_CUI:C0029001"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Onchocerca volvulus"@en, "Onchocerca volvulus infection"@en, "volvulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "onchocerciasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6282 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000289 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000432 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_1168 oboInOwl:hasAlternativeId "DOID:3147"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.5"^^xsd:string, "MESH:D006949"^^xsd:string, "MESH:D006951"^^xsd:string, "NCI:C34707"^^xsd:string, "NCI:C34709"^^xsd:string, "SNOMEDCT_US_2021_03_01:154739000"^^xsd:string, "SNOMEDCT_US_2021_03_01:3744001"^^xsd:string, "UMLS_CUI:C0020473"^^xsd:string, "UMLS_CUI:C0020476"^^xsd:string ; oboInOwl:hasExactSynonym "familial hyperlipoproteinemia"@en, "hyperlipemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hyperlipidaemia"@en ; oboInOwl:id "DOID:1168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial hyperlipidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_11680 obo:IAO_0000115 "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness."^^xsd:string ; oboInOwl:hasExactSynonym "Ocular Onchocerciasis"@en, "Ocular onchocerciasis (disorder)"@en, "river blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ocular onchocerciasis"^^xsd:string ; owl:deprecated true . obo:DOID_11683 oboInOwl:hasExactSynonym "Glaucoma associated with systemic syndromes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11683"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with systemic syndromes"^^xsd:string ; owl:deprecated true . obo:DOID_11684 oboInOwl:hasDbXref "NCI:C27548"^^xsd:string, "SNOMEDCT_US_2021_03_01:201096007"^^xsd:string, "UMLS_CUI:C1321683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11684"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanoacanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6498 . obo:DOID_11685 oboInOwl:hasDbXref "ICD10CM:L82.0"^^xsd:string, "ICD9CM:702.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:442348004"^^xsd:string, "UMLS_CUI:C0376117"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11685"^^xsd:string ; a owl:Class ; rdfs:label "inflamed seborrheic keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6498 . obo:DOID_11693 oboInOwl:hasDbXref "ICD10CM:K04.4"^^xsd:string, "ICD9CM:522.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:88071000"^^xsd:string, "UMLS_CUI:C0155934"^^xsd:string ; oboInOwl:hasExactSynonym "acute apical periodontitis of pulpal origin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11693"^^xsd:string ; a owl:Class ; rdfs:label "acute apical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_11695 obo:IAO_0000115 "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I81"^^xsd:string, "ICD9CM:452"^^xsd:string, "NCI:C78565"^^xsd:string, "SNOMEDCT_US_2021_03_01:155455003"^^xsd:string, "UMLS_CUI:C0155773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11695"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "portal vein thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060903, obo:DOID_272, obo:DOID_866, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001638 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002017 ] ) ] . obo:DOID_11696 oboInOwl:hasExactSynonym "chronic hypomanic personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11696"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic hypomanic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11699 obo:IAO_0000115 "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe."^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of intrathoracic lymph nodes (disorder)"@en, "Tuberculosis of intrathoracic lymph nodes NOS (disorder)"@en, "Tuberculosis of intrathoracic lymph nodes, unspecified examination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11699"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete intrathoracic lymph node tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_117 obo:IAO_0000115 "A cardiovascular cancer located_in the heart."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9918"^^xsd:string ; oboInOwl:hasDbXref "GARD:2619"^^xsd:string, "ICD10CM:C38.0"^^xsd:string, "ICD9CM:164.1"^^xsd:string, "MESH:D006338"^^xsd:string, "NCI:C3081"^^xsd:string, "NCI:C3548"^^xsd:string, "SNOMEDCT_US_2021_03_01:126730001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93825008"^^xsd:string, "UMLS_CUI:C0018809"^^xsd:string, "UMLS_CUI:C0153500"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiac tumor"@en, "Tumour of heart"@en, "malignant Cardiac tumor"@en, "malignant neoplasm of heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_114, obo:DOID_176 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_11701 obo:IAO_0000115 "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017098"^^xsd:string, "SNOMEDCT_US_2021_03_01:29260007"^^xsd:string, "UMLS_CUI:C0162538"^^xsd:string ; oboInOwl:hasExactSynonym "Immunoglobulin A deficiency"@en, "Selective IgA Immunodeficiency"@en, "Selective IgA immunodeficiency"@en, "Selective immunoglobulin A deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11701"^^xsd:string ; a owl:Class ; rdfs:label "selective IgA deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_11702 obo:IAO_0000115 "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004406"^^xsd:string, "SNOMEDCT_US_2021_03_01:127389001"^^xsd:string, "UMLS_CUI:C0013374"^^xsd:string ; oboInOwl:hasExactSynonym "Dysgammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11702"^^xsd:string ; a owl:Class ; rdfs:label "dysgammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_6025 ; skos:exactMatch "MESH:D004406"^^xsd:string . obo:DOID_11705 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11705"^^xsd:string ; a owl:Class ; rdfs:label "obsolete impaired renal function disease"^^xsd:string ; owl:deprecated true . obo:DOID_1171 oboInOwl:hasDbXref "MESH:D006954"^^xsd:string, "NCI:C35645"^^xsd:string, "OMIM:144650"^^xsd:string, "SNOMEDCT_US_2021_03_01:34349009"^^xsd:string, "UMLS_CUI:C0020481"^^xsd:string ; oboInOwl:hasExactSynonym "Fredrickson type V lipaemia"@en, "familial hyperlipoproteinemia type V"@en, "familial type 5 hyperlipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1171"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperlipoproteinemia type V"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_11711 oboInOwl:hasExactSynonym "Diabetes in Pregnancy"@en, "Diabetes mellitus, antepartum"@en, "pregnancy diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11711"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pregnancy in Diabetics"^^xsd:string ; owl:deprecated true . obo:DOID_11712 obo:IAO_0000115 "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003923"^^xsd:string, "NCI:C34537"^^xsd:string, "OMIM:PS151660"^^xsd:string, "SNOMEDCT_US_2021_03_01:408543001"^^xsd:string, "UMLS_CUI:C0011859"^^xsd:string ; oboInOwl:hasExactSynonym "lipoatrophic diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11712"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoatrophic diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_9352 . obo:DOID_11713 obo:IAO_0000115 "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10182"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:250.7"^^xsd:string, "MESH:D003925"^^xsd:string, "NCI:C35610"^^xsd:string, "SNOMEDCT_US_2021_03_01:127014009"^^xsd:string, "UMLS_CUI:C0011871"^^xsd:string, "UMLS_CUI:C0011875"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetic vascular disorder"@en, "diabetic peripheral angiopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_341 . obo:DOID_11714 obo:IAO_0000115 "A diabetes mellitus that manifests during pregnancy."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004593"^^xsd:string, "ICD10CM:O24.4"^^xsd:string, "MESH:D016640"^^xsd:string, "NCI:C34942"^^xsd:string, "SNOMEDCT_US_2021_03_01:11687002"^^xsd:string, "UMLS_CUI:C0085207"^^xsd:string ; oboInOwl:hasExactSynonym "GDM"@en, "Gestational diabetes mellitus"@en, "Maternal gestational diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gestational diabetes"^^xsd:string ; rdfs:subClassOf obo:DOID_9351 . obo:DOID_11716 obo:IAO_0000115 "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R73.03"^^xsd:string, "MESH:D011236"^^xsd:string, "NCI:C122685"^^xsd:string, "SNOMEDCT_US_2021_03_01:15777000"^^xsd:string, "UMLS_CUI:C0362046"^^xsd:string ; oboInOwl:hasExactSynonym "Prediabetes"@en, "impaired glucose tolerance"^^xsd:string, "prediabetic state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prediabetes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4194 . obo:DOID_11717 obo:IAO_0000115 "A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P70.2"^^xsd:string, "ICD9CM:775.1"^^xsd:string, "NCI:C99248"^^xsd:string, "SNOMEDCT_US_2021_03_01:49817004"^^xsd:string, "UMLS_CUI:C0158981"^^xsd:string ; oboInOwl:hasExactSynonym "diabetes mellitus syndrome in newborn infant"@en, "neonatal diabetes mellitus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11717"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal diabetes"^^xsd:string ; rdfs:subClassOf obo:DOID_9351 . obo:DOID_11718 obo:IAO_0000115 "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:305.8"^^xsd:string, "UMLS_CUI:C0154540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11718"^^xsd:string ; a owl:Class ; rdfs:label "antidepressant type abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_11719 oboInOwl:hasDbXref "ICD10CM:G71.09"^^xsd:string, "MESH:D039141"^^xsd:string, "NCI:C84942"^^xsd:string, "OMIM:164300"^^xsd:string, "SNOMEDCT_US_2021_03_01:77097004"^^xsd:string, "UMLS_CUI:C0270952"^^xsd:string ; oboInOwl:hasExactSynonym "Muscular dystrophy, oculopharyngeal"@en, "Oculopharyngeal muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11719"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "oculopharyngeal muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_1172 oboInOwl:hasAlternativeId "DOID:0050527"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.1"^^xsd:string, "ICD9CM:272.1"^^xsd:string, "MESH:D006953"^^xsd:string, "NCI:C34711"^^xsd:string, "OMIM:144600"^^xsd:string, "OMIM:145750"^^xsd:string, "SNOMEDCT_US_2021_03_01:154741004"^^xsd:string, "UMLS_CUI:C0020480"^^xsd:string ; oboInOwl:hasExactSynonym "Endogenous hyperlipidaemia"@en, "Fredrickson type IV Lipidemia"@en, "Fredrickson type IV hyperlipoproteinemia"@en, "Fredrickson type IV lipidaemia"@en, "VLDL hyperlipoproteinemia"@en, "familial hypertriglyceridemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1172"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperlipoproteinemia type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_11720 obo:IAO_0000115 "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.09"^^xsd:string, "MESH:D049310"^^xsd:string, "NCI:C84675"^^xsd:string, "ORDO:399096"^^xsd:string, "ORDO:5448"^^xsd:string, "ORDO:59135"^^xsd:string, "SNOMEDCT_US_2021_03_01:58795000"^^xsd:string, "UMLS_CUI:C0751336"^^xsd:string ; oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy"@en, "distal muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11720"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "distal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_11721 oboInOwl:hasDbXref "ICD10CM:E74.09"^^xsd:string, "MESH:D006014"^^xsd:string, "NCI:C118437"^^xsd:string, "OMIM:232800"^^xsd:string, "SNOMEDCT_US_2021_03_01:89597008"^^xsd:string, "UMLS_CUI:C0017926"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease, type VII"@en, "Muscle phosphofructokinase deficiency"@en, "glycogen storage disease type VII"@en, "phosphofructokinase myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11721"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease VII"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_11722 obo:IAO_0000115 "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region."^^xsd:string ; oboInOwl:hasDbXref "GARD:8310"^^xsd:string, "ICD10CM:G71.11"^^xsd:string, "ICD9CM:359.21"^^xsd:string, "MESH:D009223"^^xsd:string, "NCI:C84914"^^xsd:string, "OMIM:160900"^^xsd:string, "SNOMEDCT_US_2021_03_01:77956009"^^xsd:string, "UMLS_CUI:C0027126"^^xsd:string ; oboInOwl:hasExactSynonym "Dystrophia myotonica"@en, "Steinert disease"@en, "congenital myotonic dystrophy"@en, "myotonic dystrophy of Steinert"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11722"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myotonic dystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_450, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_11723 obo:IAO_0000115 "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy."^^xsd:string ; oboInOwl:hasDbXref "GARD:6291"^^xsd:string, "MESH:D020388"^^xsd:string, "NCI:C75482"^^xsd:string, "OMIM:310200"^^xsd:string, "SNOMEDCT_US_2021_03_01:155095006"^^xsd:string, "UMLS_CUI:C0013264"^^xsd:string ; oboInOwl:hasExactSynonym "Muscular dystrophy, Duchenne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11723"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Duchenne muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_11724 obo:IAO_0000115 "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles."^^xsd:string ; oboInOwl:hasDbXref "GARD:6907"^^xsd:string, "ICD10CM:G71.09"^^xsd:string, "MESH:D049288"^^xsd:string, "NCI:C84828"^^xsd:string, "ORDO:263"^^xsd:string, "SNOMEDCT_US_2021_03_01:56096001"^^xsd:string, "UMLS_CUI:C0686353"^^xsd:string ; oboInOwl:hasExactSynonym "Erb's muscular dystrophy"@en, "Leyden-Mbius muscular dystrophy"@en, "limb girdle muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11724"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11725 obo:IAO_0000115 "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features."^^xsd:string ; oboInOwl:hasDbXref "GARD:10109"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:D003635"^^xsd:string, "NCI:C75016"^^xsd:string, "OMIM:PS122470"^^xsd:string, "ORDO:199"^^xsd:string, "SNOMEDCT_US_2021_03_01:40354009"^^xsd:string, "UMLS_CUI:C0270972"^^xsd:string ; oboInOwl:hasExactSynonym "Brachmann de Lange syndrome"@en, "De Lange syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11725"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Cornelia de Lange syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_11726 obo:IAO_0000115 "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:6329"^^xsd:string, "MESH:D020389"^^xsd:string, "NCI:C84685"^^xsd:string, "OMIM:PS310300"^^xsd:string, "ORDO:261"^^xsd:string, "SNOMEDCT_US_2021_03_01:129620000"^^xsd:string, "UMLS_CUI:C0410189"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11726"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Emery-Dreifuss muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11727 oboInOwl:hasDbXref "GARD:9941"^^xsd:string, "ICD10CM:G71.02"^^xsd:string, "MESH:D020391"^^xsd:string, "NCI:C84704"^^xsd:string, "SNOMEDCT_US_2021_03_01:56096001"^^xsd:string, "UMLS_CUI:C0238288"^^xsd:string ; oboInOwl:hasExactSynonym "Landouzy Dejerine muscular dystrophy"@en, "Landouzy-Dejerine muscular dystrophy"@en, "Muscular dystrophy, Landouzy-Dejerine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11727"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "facioscapulohumeral muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11729 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12233"^^xsd:string ; oboInOwl:hasDbXref "GARD:12073"^^xsd:string, "ICD10CM:A69.2"^^xsd:string, "ICD9CM:088.81"^^xsd:string, "MESH:D008193"^^xsd:string, "MESH:D020852"^^xsd:string, "NCI:C45161"^^xsd:string, "SNOMEDCT_US_2021_03_01:154376000"^^xsd:string, "SNOMEDCT_US_2021_03_01:715507005"^^xsd:string, "UMLS_CUI:C0024198"^^xsd:string, "UMLS_CUI:C0752235"^^xsd:string ; oboInOwl:hasExactSynonym "Bannwarth syndrome"@en, "Bannworth's syndrome"@en, "Lyme borreliosis"@en, "Neurological Lyme disease"@en, "lyme neuroborreliosis"@en, "neuroborreliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11729"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Lyme disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_139 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_29930 obo:NCBITaxon_6945 ) ] ] . obo:DOID_11730 oboInOwl:hasExactSynonym "Borreliosis (disorder)"@en, "Borreliosis, NOS"@en, "borreliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11730"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Borrelia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11732 oboInOwl:hasExactSynonym "Syphilitic myocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11732"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11733 oboInOwl:hasExactSynonym "Aneurysm of aorta, specified as syphilitic"@en, "Syphilitic aneurysm of aorta (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11733"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic aortic aneurysm"^^xsd:string ; owl:deprecated true . obo:DOID_11734 oboInOwl:hasExactSynonym "Syphilitic pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11734"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11735 oboInOwl:hasExactSynonym "Manic disorder, single episode, in full remission"@en, "Single manic episode in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11735"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single manic episode in full remission"^^xsd:string ; owl:deprecated true . obo:DOID_11736 oboInOwl:hasDbXref "ICD9CM:521.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:196305005"^^xsd:string, "UMLS_CUI:C0341004"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11736"^^xsd:string ; a owl:Class ; rdfs:label "odontoclasia"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_11741 obo:IAO_0000115 "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress."^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydial pneumonia (disorder)"@en, "Pneumonia due to Chlamydia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11741"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila pneumoniae pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_11746 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the parametrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.3"^^xsd:string, "ICD9CM:183.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:93942003"^^xsd:string, "UMLS_CUI:C0153581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11746"^^xsd:string ; a owl:Class ; rdfs:label "parametrium malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010391 ] ) ] . obo:DOID_11747 obo:IAO_0000115 "A uterine cancer that is located_in the adnexa."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9596"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.4"^^xsd:string, "ICD9CM:183"^^xsd:string, "ICD9CM:183.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:188201008"^^xsd:string, "SNOMEDCT_US_2021_03_01:94126000"^^xsd:string, "UMLS_CUI:C0153577"^^xsd:string, "UMLS_CUI:C0153584"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11747"^^xsd:string ; a owl:Class ; rdfs:label "uterine adnexa cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_363 . obo:DOID_11748 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the round ligament."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.2"^^xsd:string, "ICD9CM:183.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:188204000"^^xsd:string, "UMLS_CUI:C0346867"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of round ligament"@en, "malignant neoplasm of round ligament of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11748"^^xsd:string ; a owl:Class ; rdfs:label "round ligament malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006589 ] ) ] . obo:DOID_11750 obo:IAO_0000115 "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A37.1"^^xsd:string, "ICD9CM:033.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:77116006"^^xsd:string, "UMLS_CUI:C0275742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11750"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Bordetella parapertussis whooping cough"^^xsd:string ; rdfs:subClassOf obo:DOID_1116, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11752 oboInOwl:hasDbXref "ICD9CM:360.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:193268004"^^xsd:string, "UMLS_CUI:C0154773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11752"^^xsd:string ; a owl:Class ; rdfs:label "acute endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9724 . obo:DOID_11753 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete biliary calculus with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11754 obo:IAO_0000115 "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.32"^^xsd:string, "ICD9CM:360.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:25277000"^^xsd:string, "UMLS_CUI:C0271001"^^xsd:string ; oboInOwl:hasExactSynonym "Siderosis of globe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11754"^^xsd:string ; a owl:Class ; rdfs:label "siderosis of eye"^^xsd:string ; rdfs:subClassOf obo:DOID_9799 . obo:DOID_11755 oboInOwl:hasDbXref "MESH:D042883"^^xsd:string, "SNOMEDCT_US_2021_03_01:197397004"^^xsd:string, "UMLS_CUI:C0701818"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11755"^^xsd:string ; a owl:Class ; rdfs:label "choledocholithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4137 . obo:DOID_11756 oboInOwl:hasAlternativeId "DOID:13666"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct calculus with acute cholecystitis and obstruction"@en, "bile duct calculus with acute cholecystitis and obstruction (disorder)"@en, "bile duct calculus with acute cholecystitis and obstruction NOS (disorder)"@en, "calculus of bile duct with acute cholecystitis with obstruction (disorder)"@en, "calculus of bile duct with acute cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11756"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of bile duct with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11758 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:280.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:191129007"^^xsd:string, "UMLS_CUI:C0029810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11758"^^xsd:string ; a owl:Class ; rdfs:label "iron deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_11759 oboInOwl:hasDbXref "ICD10CM:D50"^^xsd:string, "MESH:D000747"^^xsd:string, "NCI:C34380"^^xsd:string, "SNOMEDCT_US_2021_03_01:44452003"^^xsd:string, "UMLS_CUI:C0002884"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA HYPOCHROMIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypochromic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_1176 obo:IAO_0000115 "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1175"^^xsd:string, "DOID:12322"^^xsd:string ; oboInOwl:hasDbXref "MESH:D001982"^^xsd:string, "SNOMEDCT_US_2021_03_01:41427001"^^xsd:string, "UMLS_CUI:C0006261"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1176"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "bronchial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050161 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_11760 obo:IAO_0000115 "An osteochondrosis that results_in death and collapse located_in navicular bone of foot."^^xsd:string ; oboInOwl:hasDbXref "GARD:6842"^^xsd:string, "ICD9CM:732.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:32491009"^^xsd:string, "UMLS_CUI:C0158444"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile osteochondrosis of foot"@en, "Kohler disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11760"^^xsd:string ; a owl:Class ; rdfs:label "Kohler's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8125 . obo:DOID_11766 oboInOwl:hasDbXref "ICD9CM:360.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:193291000"^^xsd:string, "UMLS_CUI:C0154788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11766"^^xsd:string ; a owl:Class ; rdfs:label "blind hypotensive eye"^^xsd:string ; rdfs:subClassOf obo:DOID_790 . obo:DOID_11770 oboInOwl:hasExactSynonym "testicular hyperfunction"@en, "testicular hyperfunction (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11770"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypersecretion of testicular hormones"^^xsd:string ; owl:deprecated true . obo:DOID_11771 oboInOwl:hasDbXref "ICD10CM:H55.03"^^xsd:string, "ICD9CM:379.53"^^xsd:string, "MESH:D009759"^^xsd:string, "SNOMEDCT_US_2021_03_01:39771000"^^xsd:string, "UMLS_CUI:C0271384"^^xsd:string ; oboInOwl:hasExactSynonym "Ocular nystagmus"@en, "Searching eye movements"@en, "visual deprivation nystagmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11771"^^xsd:string ; a owl:Class ; rdfs:label "spontaneous ocular nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_9650 . obo:DOID_11772 oboInOwl:hasDbXref "ICD10CM:H44.53"^^xsd:string, "ICD9CM:360.44"^^xsd:string, "SNOMEDCT_US_2021_03_01:193288000"^^xsd:string, "UMLS_CUI:C0152458"^^xsd:string ; oboInOwl:hasExactSynonym "Leucocoria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11772"^^xsd:string ; a owl:Class ; rdfs:label "leukocoria"^^xsd:string ; rdfs:subClassOf obo:DOID_9799 . obo:DOID_11775 oboInOwl:hasExactSynonym "Hereditary edema of legs"@en, "Hereditary edema of legs NOS (disorder)"@en, "Hereditary edema of legs [dup] (disorder)"@en, "Hereditary trophedema (disorder)"@en, "Hereditary trophoedeme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11775"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary trophedema"^^xsd:string ; owl:deprecated true . obo:DOID_11776 obo:IAO_0000115 "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:360.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:193286001"^^xsd:string, "UMLS_CUI:C0154789"^^xsd:string ; oboInOwl:hasExactSynonym "blind hypertensive eye"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11776"^^xsd:string ; a owl:Class ; rdfs:label "absolute glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_11781 oboInOwl:hasDbXref "ICD10CM:H52.22"^^xsd:string, "ICD9CM:367.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:68905002"^^xsd:string, "UMLS_CUI:C0152193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11781"^^xsd:string ; a owl:Class ; rdfs:label "regular astigmatism"^^xsd:string ; rdfs:subClassOf obo:DOID_11782 . obo:DOID_11782 obo:IAO_0000115 "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004222"^^xsd:string, "ICD10CM:H52.2"^^xsd:string, "ICD9CM:367.2"^^xsd:string, "MESH:D001251"^^xsd:string, "OMIM:603047"^^xsd:string, "SNOMEDCT_US_2021_03_01:155134009"^^xsd:string, "UMLS_CUI:C0004106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11782"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "astigmatism"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_11783 oboInOwl:hasDbXref "ICD9CM:385.24"^^xsd:string, "UMLS_CUI:C0155488"^^xsd:string ; oboInOwl:hasExactSynonym "partial loss or necrosis of ear ossicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11783"^^xsd:string ; a owl:Class ; rdfs:label "necrosis of ear ossicle"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_11786 oboInOwl:hasDbXref "ICD9CM:289.52"^^xsd:string, "UMLS_CUI:C1260402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11786"^^xsd:string ; a owl:Class ; rdfs:label "splenic sequestration"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_11787 oboInOwl:hasDbXref "ICD10CM:D73.2"^^xsd:string, "ICD9CM:289.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:191382009"^^xsd:string, "UMLS_CUI:C0398661"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11787"^^xsd:string ; a owl:Class ; rdfs:label "chronic congestive splenomegaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_11793 oboInOwl:hasDbXref "ICD9CM:371.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:193801004"^^xsd:string, "UMLS_CUI:C0155102"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11793"^^xsd:string ; a owl:Class ; rdfs:label "phthisical cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11797 obo:IAO_0000115 "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J37.0"^^xsd:string, "ICD9CM:476.0"^^xsd:string, "NCI:C26975"^^xsd:string, "SNOMEDCT_US_2021_03_01:155535001"^^xsd:string, "UMLS_CUI:C0155836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11797"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic laryngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3437 . obo:DOID_118 obo:IAO_0000115 "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010490"^^xsd:string, "NCI:C3319"^^xsd:string, "SNOMEDCT_US_2021_03_01:70370001"^^xsd:string, "UMLS_CUI:C0031039"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardial effusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829 . obo:DOID_11801 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E46"^^xsd:string, "ICD9CM:263.9"^^xsd:string, "MESH:D011502"^^xsd:string, "NCI:C34952"^^xsd:string, "SNOMEDCT_US_2021_03_01:72608005"^^xsd:string, "UMLS_CUI:C0033677"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "protein-energy malnutrition"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_11802 oboInOwl:hasExactSynonym "protein deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11802"^^xsd:string ; a owl:Class ; rdfs:label "obsolete protein deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_11806 oboInOwl:hasExactSynonym "Macrodactylia"@en, "Macrodactylia (fingers)"@en, "Macrodactylia of fingers (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11806"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macrodactylia of fingers"^^xsd:string ; owl:deprecated true . obo:DOID_11809 oboInOwl:hasDbXref "ICD10CM:C67.5"^^xsd:string, "ICD9CM:188.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:188244007"^^xsd:string, "UMLS_CUI:C0153613"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of urinary bladder neck"@en, "malignant tumor of bladder neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11809"^^xsd:string ; a owl:Class ; rdfs:label "bladder neck cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001258 ] ) ] . obo:DOID_11810 oboInOwl:hasExactSynonym "metastatic tumor to the urinary bladder"@en, "secondary malignant neoplasm of bladder (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm to the bladder"^^xsd:string ; owl:deprecated true . obo:DOID_11811 oboInOwl:hasDbXref "ICD10CM:C67.4"^^xsd:string, "ICD9CM:188.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:93972009"^^xsd:string, "UMLS_CUI:C0153612"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of posterior wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11811"^^xsd:string ; a owl:Class ; rdfs:label "urinary bladder posterior wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11812 obo:IAO_0000115 "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4669"^^xsd:string, "SNOMEDCT_US_2021_03_01:278046008"^^xsd:string, "UMLS_CUI:C0349666"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of bladder"@en, "sarcoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11054, obo:DOID_1115, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_11813 oboInOwl:hasDbXref "ICD10CM:C67.0"^^xsd:string, "ICD9CM:188.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:94109006"^^xsd:string, "UMLS_CUI:C0496826"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of trigone of urinary bladder"@en, "malignant tumor of trigone of bladder"@en, "malignant tumor of trigone of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11813"^^xsd:string ; a owl:Class ; rdfs:label "bladder trigone cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001257 ] ) ] . obo:DOID_11814 oboInOwl:hasDbXref "ICD10CM:C67.3"^^xsd:string, "ICD9CM:188.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93675008"^^xsd:string, "UMLS_CUI:C0153611"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of anterior wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11814"^^xsd:string ; a owl:Class ; rdfs:label "urinary bladder anterior wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11815 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant bladder neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_11816 oboInOwl:hasDbXref "ICD10CM:H43.81"^^xsd:string, "ICD9CM:379.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:60189009"^^xsd:string, "UMLS_CUI:C0155366"^^xsd:string ; oboInOwl:hasExactSynonym "Vitreous degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11816"^^xsd:string ; a owl:Class ; rdfs:label "vitreous syneresis"^^xsd:string ; rdfs:subClassOf obo:DOID_9720 . obo:DOID_11817 oboInOwl:hasDbXref "GARD:7836"^^xsd:string, "ICD10CM:C67.7"^^xsd:string, "ICD9CM:188.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:94120006"^^xsd:string, "UMLS_CUI:C0153615"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of urachus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11817"^^xsd:string ; a owl:Class ; rdfs:label "urachus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002068 ] ) ] . obo:DOID_11818 oboInOwl:hasDbXref "ICD10CM:C67.6"^^xsd:string, "ICD9CM:188.6"^^xsd:string, "NCI:C12337"^^xsd:string, "SNOMEDCT_US_2021_03_01:188245008"^^xsd:string, "UMLS_CUI:C0153614"^^xsd:string ; oboInOwl:hasExactSynonym "Orifice of the Ureter"@en, "malignant neoplasm of ureteric orifice of urinary bladder"@en, "malignant tumor of ureteric orifice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11818"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteric orifice cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012303 ] ) ] . obo:DOID_11819 obo:IAO_0000115 "A urinary system cancer that is located_in the ureter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C66"^^xsd:string, "ICD9CM:189.2"^^xsd:string, "MESH:D014516"^^xsd:string, "NCI:C7543"^^xsd:string, "OMIM:191600"^^xsd:string, "SNOMEDCT_US_2021_03_01:94121005"^^xsd:string, "UMLS_CUI:C0153619"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of ureter"@en, "malignant ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11819"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ureter cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_3996 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11820 oboInOwl:hasDbXref "ICD10CM:C67.1"^^xsd:string, "ICD9CM:188.1"^^xsd:string, "NCI:C12332"^^xsd:string, "SNOMEDCT_US_2021_03_01:93678005"^^xsd:string, "UMLS_CUI:C0496827"^^xsd:string ; oboInOwl:hasExactSynonym "Superior Surface of bladder"@en, "malignant neoplasm of apex of urinary bladder"@en, "malignant neoplasm of dome of urinary bladder"@en, "malignant tumor of vault of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder dome cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11821 oboInOwl:hasDbXref "NCI:C6164"^^xsd:string, "UMLS_CUI:C1332561"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11821"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11054, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11823 obo:IAO_0000115 "An acute kidney failure that is characterized by severe renal vasoconstriction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6610"^^xsd:string, "ICD10CM:K76.7"^^xsd:string, "ICD9CM:572.4"^^xsd:string, "MESH:D006530"^^xsd:string, "NCI:C113400"^^xsd:string, "SNOMEDCT_US_2021_03_01:51292008"^^xsd:string, "UMLS_CUI:C0019212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11823"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3021 . obo:DOID_11824 obo:IAO_0000115 "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7103"^^xsd:string, "ICD10CM:E78.81"^^xsd:string, "NCI:C27896"^^xsd:string, "ORDO:139436"^^xsd:string, "SNOMEDCT_US_2021_03_01:84241008"^^xsd:string, "UMLS_CUI:C0311284"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoid dermatoarthritis"@en, "Multicentric reticulohistiocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11824"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "multicentric reticulohistiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_11828 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11828"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual cortex disorder due to vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11829 oboInOwl:hasDbXref "EFO:0004207"^^xsd:string, "ICD10CM:H44.2"^^xsd:string, "ICD9CM:360.21"^^xsd:string, "MESH:D047728"^^xsd:string, "NCI:C157149"^^xsd:string, "SNOMEDCT_US_2021_03_01:32022003"^^xsd:string, "UMLS_CUI:C0154778"^^xsd:string ; oboInOwl:hasExactSynonym "degenerative progressive high myopia"@en, "pathological myopia"@en, "progressive high (degenerative) myopia"@en, "progressive high myopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11829"^^xsd:string ; a owl:Class ; rdfs:label "degenerative myopia"^^xsd:string ; rdfs:subClassOf obo:DOID_11830 . obo:DOID_1183 oboInOwl:hasExactSynonym "Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1183"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11830 obo:IAO_0000115 "A refractive error characterized by the inability to see farther objects clearly."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003927"^^xsd:string, "ICD10CM:H52.1"^^xsd:string, "ICD9CM:367.1"^^xsd:string, "MESH:D009216"^^xsd:string, "NCI:C102533"^^xsd:string, "OMIM:160700"^^xsd:string, "OMIM:255500"^^xsd:string, "OMIM:300613"^^xsd:string, "OMIM:310460"^^xsd:string, "OMIM:603221"^^xsd:string, "OMIM:608367"^^xsd:string, "OMIM:608474"^^xsd:string, "OMIM:608908"^^xsd:string, "OMIM:609256"^^xsd:string, "OMIM:609257"^^xsd:string, "OMIM:609258"^^xsd:string, "OMIM:609259"^^xsd:string, "OMIM:609994"^^xsd:string, "OMIM:609995"^^xsd:string, "OMIM:610320"^^xsd:string, "OMIM:612554"^^xsd:string, "OMIM:612717"^^xsd:string, "OMIM:613959"^^xsd:string, "OMIM:613969"^^xsd:string, "OMIM:614166"^^xsd:string, "OMIM:614167"^^xsd:string, "OMIM:615420"^^xsd:string, "OMIM:615431"^^xsd:string, "OMIM:615946"^^xsd:string, "SNOMEDCT_US_2021_03_01:155133003"^^xsd:string, "UMLS_CUI:C0027092"^^xsd:string ; oboInOwl:hasExactSynonym "near vision"@en, "near-sightedness"@en, "short-sightedness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11830"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "myopia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 ; skos:exactMatch "MESH:D009216"^^xsd:string . obo:DOID_11831 oboInOwl:hasDbXref "ICD10CM:H47.61"^^xsd:string, "ICD9CM:377.75"^^xsd:string, "MESH:D019575"^^xsd:string, "NCI:C118707"^^xsd:string, "SNOMEDCT_US_2021_03_01:68574006"^^xsd:string, "UMLS_CUI:C0155320"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11831"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortical blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5691 . obo:DOID_11832 oboInOwl:hasDbXref "MESH:D012640"^^xsd:string, "NCI:C3980"^^xsd:string, "SNOMEDCT_US_2021_03_01:39194005"^^xsd:string, "UMLS_CUI:C0270824"^^xsd:string ; oboInOwl:hasExactSynonym "epilepsy, visual"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11832"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "visual epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_11836 obo:IAO_0000115 "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0001874"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q66.89"^^xsd:string, "ICD9CM:754.51"^^xsd:string, "MESH:D003025"^^xsd:string, "NCI:C84641"^^xsd:string, "OMIM:119800"^^xsd:string, "SNOMEDCT_US_2021_03_01:33163000"^^xsd:string, "UMLS_CUI:C0009081"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital equinovarus"@en, "Equinovarus deformity of foot"@en, "congenital clubfoot"@en, "congenital talipes equinovarus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11836"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "clubfoot"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_11837 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of scapula and long bones of upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_11838 obo:IAO_0000115 "A sarcoma and malignant neoplasm of penis that is located_in the penis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7730"^^xsd:string, "UMLS_CUI:C0238352"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_11615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_11839 oboInOwl:hasDbXref "ICD10CM:C60.1"^^xsd:string, "ICD9CM:187.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93813005"^^xsd:string, "UMLS_CUI:C0153599"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of glans penis"@en, "malignant tumor of glans penis"@en, "malignant tumour of glans penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11839"^^xsd:string ; a owl:Class ; rdfs:label "glans penis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11615 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001299 ] ) ] . obo:DOID_1184 obo:IAO_0000115 "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04"^^xsd:string, "ICD9CM:581"^^xsd:string, "MESH:D009404"^^xsd:string, "NCI:C34845"^^xsd:string, "SNOMEDCT_US_2021_03_01:155851004"^^xsd:string, "UMLS_CUI:C0027726"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "nephrotic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2527 . obo:DOID_11840 oboInOwl:hasDbXref "MESH:D003329"^^xsd:string, "NCI:C34515"^^xsd:string, "SNOMEDCT_US_2021_03_01:23687008"^^xsd:string, "UMLS_CUI:C0010073"^^xsd:string ; oboInOwl:hasExactSynonym "Coronary Vasospasm"@en, "Coronary artery spasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "coronary artery vasospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_11843 oboInOwl:hasDbXref "GARD:1534"^^xsd:string, "ICD9CM:746.85"^^xsd:string, "SNOMEDCT_US_2021_03_01:28574005"^^xsd:string, "UMLS_CUI:C0158623"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomaly of coronary artery"@en, "Coronary artery abnormality"@en, "Coronary artery anomaly"@en, "Coronary artery anomaly, congenital"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11843"^^xsd:string ; a owl:Class ; rdfs:label "coronary artery anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_11847 oboInOwl:hasDbXref "ICD10CM:I22"^^xsd:string, "MESH:D003328"^^xsd:string, "SNOMEDCT_US_2021_03_01:66514008"^^xsd:string, "UMLS_CUI:C0010072"^^xsd:string ; oboInOwl:hasExactSynonym "Coronary artery thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11847"^^xsd:string ; a owl:Class ; rdfs:label "coronary thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060903, obo:DOID_3393 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001621 ] ) ] . obo:DOID_11849 oboInOwl:hasExactSynonym "Ciliary body degenerative changes (disorder)"@en, "degenerative changes of ciliary body (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11849"^^xsd:string ; a owl:Class ; rdfs:label "obsolete degenerative changes of ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_11850 oboInOwl:hasDbXref "ICD9CM:367.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:81519008"^^xsd:string, "UMLS_CUI:C0155000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11850"^^xsd:string ; a owl:Class ; rdfs:label "transient refractive change"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_11851 obo:IAO_0000115 "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.0"^^xsd:string, "ICD9CM:030.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:14386001"^^xsd:string, "UMLS_CUI:C0021192"^^xsd:string ; oboInOwl:hasExactSynonym "Indeterminate leprosy"@en, "Uncharacteristic leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11851"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "indeterminate leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_11852 oboInOwl:hasExactSynonym "Syphilitic endocarditis of aortic valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11852"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete aortic valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11853 oboInOwl:hasDbXref "ICD10CM:H50.11"^^xsd:string, "ICD9CM:378.11"^^xsd:string, "MESH:D005099"^^xsd:string, "SNOMEDCT_US_2021_03_01:194087008"^^xsd:string, "UMLS_CUI:C0152206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11853"^^xsd:string ; a owl:Class ; rdfs:label "monocular exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_1143 . obo:DOID_11854 oboInOwl:hasExactSynonym "Monocular exotropia with A pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11854"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular exotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11855 oboInOwl:hasExactSynonym "Intermittent exotropia, monocular"@en, "Intermittent monocular exotropia (disorder)"@en, "Monocular intermittent exotropia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11855"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent monocular exotropia"^^xsd:string ; owl:deprecated true . obo:DOID_11856 oboInOwl:hasExactSynonym "Monocular exotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11856"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular exotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11861 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11861"^^xsd:string ; a owl:Class ; rdfs:label "obsolete prolonged pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_11862 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11862"^^xsd:string ; a owl:Class ; rdfs:label "obsolete late pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_11864 oboInOwl:hasDbXref "ICD9CM:363.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:56787009"^^xsd:string, "UMLS_CUI:C0339394"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11864"^^xsd:string ; a owl:Class ; rdfs:label "peripheral focal chorioretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1979 . obo:DOID_11868 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11868"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic erythremia"^^xsd:string ; owl:deprecated true . obo:DOID_1187 oboInOwl:hasDbXref "MESH:D020429"^^xsd:string, "SNOMEDCT_US_2021_03_01:359842002"^^xsd:string, "UMLS_CUI:C0751932"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior tibial neuropathy"@en, "Tibial neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1187"^^xsd:string ; a owl:Class ; rdfs:label "tibial neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_11870 oboInOwl:hasDbXref "GARD:7392"^^xsd:string, "ICD10CM:G31.01"^^xsd:string, "ICD9CM:331.11"^^xsd:string, "MESH:D020774"^^xsd:string, "NCI:C85008"^^xsd:string, "OMIM:172700"^^xsd:string, "SNOMEDCT_US_2021_03_01:154998003"^^xsd:string, "UMLS_CUI:C0236642"^^xsd:string ; oboInOwl:hasExactSynonym "Dementia in Pick's disease"@en, "LOBAR ATROPHY OF BRAIN"@en, "PICK DISEASE OF BRAIN"@en, "Pick disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Pick's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 ; skos:exactMatch "MESH:D020774"^^xsd:string . obo:DOID_11871 oboInOwl:hasDbXref "ICD10CM:H16.11"^^xsd:string, "ICD9CM:370.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:2853006"^^xsd:string, "UMLS_CUI:C0155076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11871"^^xsd:string ; a owl:Class ; rdfs:label "macular keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_11872 oboInOwl:hasExactSynonym "Septicemia due to Staphylococcus aureus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11872"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11873 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11873"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11874 oboInOwl:hasDbXref "ICD10CM:H53.61"^^xsd:string, "ICD9CM:368.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:50455002"^^xsd:string, "UMLS_CUI:C0155019"^^xsd:string ; oboInOwl:hasExactSynonym "abnormal dark adaptation curve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11874"^^xsd:string ; a owl:Class ; rdfs:label "abnormal threshold of rods"^^xsd:string ; rdfs:subClassOf obo:DOID_8499 . obo:DOID_11875 oboInOwl:hasDbXref "ICD10CM:K12.1"^^xsd:string, "MESH:D013282"^^xsd:string, "SNOMEDCT_US_2021_03_01:196576008"^^xsd:string, "UMLS_CUI:C0038364"^^xsd:string ; oboInOwl:hasExactSynonym "Denture sore mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11875"^^xsd:string ; a owl:Class ; rdfs:label "denture stomatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9637 . obo:DOID_1188 obo:IAO_0000115 "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G58.9"^^xsd:string, "MESH:D020422"^^xsd:string, "SNOMEDCT_US_2021_03_01:304595001"^^xsd:string, "UMLS_CUI:C0494491"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1188"^^xsd:string ; a owl:Class ; rdfs:label "mononeuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_11885 oboInOwl:hasDbXref "MESH:D014516"^^xsd:string, "NCI:C3427"^^xsd:string, "SNOMEDCT_US_2021_03_01:126882009"^^xsd:string, "UMLS_CUI:C0041955"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of ureter"@en, "ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11885"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteral benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11887 obo:IAO_0000115 "An ureteral benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6161"^^xsd:string, "UMLS_CUI:C1336875"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11887"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11885, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_11888 oboInOwl:hasDbXref "NCI:C6162"^^xsd:string, "UMLS_CUI:C1336877"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11888"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schwannoma of ureter"^^xsd:string ; rdfs:subClassOf obo:DOID_11885, obo:DOID_956 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3192 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11889 obo:IAO_0000115 "A female breast cancer that is located_in the nipple and areola."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:174.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:188147009"^^xsd:string, "UMLS_CUI:C0024621"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of nipple and areola of female breast"@en, "malignant neoplasm of nipple or areola of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11889"^^xsd:string ; a owl:Class ; rdfs:label "female breast nipple and areola cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_11892 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "sarcodina"@en ; oboInOwl:id "DOID:11892"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Amoebozoa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11893 obo:IAO_0000115 "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body."^^xsd:string ; oboInOwl:hasExactSynonym "Amebic skin ulceration"@en, "Amebic ulcer of skin (disorder)"@en, "Amoebic skin ulceration"@en, "amebic ulcer of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11893"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous amebiasis"^^xsd:string ; owl:deprecated true . obo:DOID_11896 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye."^^xsd:string ; oboInOwl:hasExactSynonym "Acanthameba keratitis"@en, "Acanthamoeba keratitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11896"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthamoeba keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_11897 obo:IAO_0000115 "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11897"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Blastocystis hominis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_119 obo:IAO_0000115 "A female reproductive system cancer that is located_in the vagina."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1902"^^xsd:string ; oboInOwl:hasDbXref "GARD:9348"^^xsd:string, "ICD10CM:C52"^^xsd:string, "ICD9CM:184.0"^^xsd:string, "MESH:D014625"^^xsd:string, "NCI:C3437"^^xsd:string, "NCI:C7410"^^xsd:string, "SNOMEDCT_US_2021_03_01:126921000"^^xsd:string, "SNOMEDCT_US_2021_03_01:188210000"^^xsd:string, "UMLS_CUI:C0042237"^^xsd:string, "UMLS_CUI:C0042258"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of vagina"@en, "malignant tumor of vagina"@en, "malignant vaginal tumor"@en, "neoplasm of vagina"@en, "vagina neoplasm"@en, "vaginal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "vaginal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_121 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_11902 obo:IAO_0000115 "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses."^^xsd:string ; oboInOwl:hasExactSynonym "Amebic brain abscess"@en, "Amebic brain abscess (disorder)"@en, "amebic abscess of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11902"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral amebiasis"^^xsd:string ; owl:deprecated true . obo:DOID_11905 obo:IAO_0000115 "A vulva cancer that is located_in the labium majus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C51.0"^^xsd:string, "ICD9CM:184.1"^^xsd:string, "NCI:C7638"^^xsd:string, "SNOMEDCT_US_2021_03_01:93850006"^^xsd:string, "UMLS_CUI:C0496814"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of labia majora"@en, "malignant tumor of Labia Majora"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11905"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labium majus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_11907 oboInOwl:hasDbXref "MESH:D004473"^^xsd:string, "SNOMEDCT_US_2021_03_01:762694009"^^xsd:string, "UMLS_CUI:C0013568"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11907"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "ecthyma"^^xsd:string ; rdfs:subClassOf obo:DOID_8504 . obo:DOID_11914 oboInOwl:hasDbXref "ICD10CM:K31.84"^^xsd:string, "ICD9CM:536.3"^^xsd:string, "MESH:D018589"^^xsd:string, "NCI:C80512"^^xsd:string, "SNOMEDCT_US_2021_03_01:235675006"^^xsd:string, "UMLS_CUI:C0152020"^^xsd:string ; oboInOwl:hasExactSynonym "Gastroparalysis"@en, "Gastroparesis syndrome"@en, "gastric atonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11914"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastroparesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1159 . obo:DOID_11917 obo:IAO_0000115 "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:110.3"^^xsd:string, "NCI:C34535"^^xsd:string, "SNOMEDCT_US_2021_03_01:59089002"^^xsd:string, "UMLS_CUI:C0011638"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis of Groin and Perianal Area"@en, "Dermatophytosis of groin & perianal area"@en, "Dermatophytosis of groin and perianal area"@en, "Dhobie itch"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tinea cruris"^^xsd:string ; rdfs:subClassOf obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0002356 obo:UBERON_0008337 obo:UBERON_0012336 ) ] ] . obo:DOID_1192 obo:IAO_0000115 "A nervous system cancer that is located in the peripheral nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3194"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010524"^^xsd:string, "MESH:D018317"^^xsd:string, "NCI:C3321"^^xsd:string, "NCI:C4972"^^xsd:string, "SNOMEDCT_US_2021_03_01:126980002"^^xsd:string, "SNOMEDCT_US_2021_03_01:189946005"^^xsd:string, "UMLS_CUI:C0031118"^^xsd:string, "UMLS_CUI:C0206727"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of peripheral nerve"@en, "nerve sheath neoplasm"@en, "tumor of PNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "peripheral nervous system neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3093, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_11920 obo:IAO_0000115 "A respiratory system cancer that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C33"^^xsd:string, "ICD9CM:162.0"^^xsd:string, "NCI:C9346"^^xsd:string, "SNOMEDCT_US_2021_03_01:187855003"^^xsd:string, "UMLS_CUI:C0153489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11920"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "tracheal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_3225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] ) ] . obo:DOID_11934 obo:IAO_0000115 "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."^^xsd:string ; oboInOwl:hasDbXref "GARD:12425"^^xsd:string, "MESH:D006258"^^xsd:string, "NCI:C3077"^^xsd:string, "SNOMEDCT_US_2021_03_01:255055008"^^xsd:string, "UMLS_CUI:C0018671"^^xsd:string ; oboInOwl:hasExactSynonym "head and neck neoplasm"@en, "head and neck tumours"@en, "head/neck neoplasm"@en, "tumor of head and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11934"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "head and neck cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000033 obo:UBERON_0000974 ) ] ] ) ] . obo:DOID_11939 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11939"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_11943 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area."^^xsd:string ; oboInOwl:hasExactSynonym "Leukorrhoea vaginalis - trichomonal"@en, "Trichomonal leukorrhoea"@en, "Trichomonal vaginitis &/or vulvovaginitis"@en, "Trichomonal vaginitis (disorder)"@en, "Trichomonal vulvovaginitis"@en, "Trichomonal vulvovaginitis (disorder)"@en, "vaginal trichomoniasis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11943"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas vaginitis"^^xsd:string ; owl:deprecated true . obo:DOID_11944 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal prostatitis"@en, "Trichomonal prostatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11944"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas prostatitis"^^xsd:string ; owl:deprecated true . obo:DOID_11945 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal cystitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11945"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas cystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11946 oboInOwl:hasExactSynonym "Aborter - recurrent"@en, "Habitual aborter"@en, "Habitual aborter - unspecified (disorder)"@en, "Habitual aborter NOS (disorder)"@en, "chronic spontaneous abortion"@en, "recurrent abortion (disorder)"@en, "recurrent miscarriage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11946"^^xsd:string ; a owl:Class ; rdfs:label "obsolete habitual abortion"^^xsd:string ; owl:deprecated true . obo:DOID_11947 oboInOwl:hasExactSynonym "Major depressive disorder, recurrent episode, in full remission"@en, "recurrent major depression in complete remission (disorder)"@en, "recurrent major depressive episodes, in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11947"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent major depression in complete remission"^^xsd:string ; owl:deprecated true . obo:DOID_11949 oboInOwl:hasDbXref "EFO:0004226"^^xsd:string, "GARD:6956"^^xsd:string, "ICD10CM:A81.0"^^xsd:string, "ICD9CM:046.1"^^xsd:string, "MESH:D007562"^^xsd:string, "NCI:C26802"^^xsd:string, "OMIM:123400"^^xsd:string, "SNOMEDCT_US_2021_03_01:155061007"^^xsd:string, "UMLS_CUI:C0022336"^^xsd:string ; oboInOwl:hasExactSynonym "CJD"@en, "Creutzfeldt Jacob syndrome"@en, "Creutzfeldt Jakob disease"@en, "Creutzfeldt-Jacob disease"@en, "Jakob-Creutzfeldt disease"@en, "Subacute spongiform encephalopathy"@en, "Transmissible virus dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Creutzfeldt-Jakob disease"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_1195 oboInOwl:hasDbXref "NCI:C27025"^^xsd:string, "SNOMEDCT_US_2021_03_01:129611009"^^xsd:string, "UMLS_CUI:C0238309"^^xsd:string ; oboInOwl:hasExactSynonym "Ischemic peripheral neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ischemic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_11950 oboInOwl:hasAlternativeId "DOID:11951"^^xsd:string, "DOID:11953"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum congenital cardiovascular disorder of mother"@en, "postpartum congenital cardiovascular disorder of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11950"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11952 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11952"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital cardiovascular disorder of mother, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11954 oboInOwl:hasExactSynonym "Psychosexual Dysfunction with Inhibited Sexual Excitement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11954"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychosexual dysfunction with inhibited sexual excitement"^^xsd:string ; owl:deprecated true . obo:DOID_11955 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11955"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malnutrition of moderate degree"^^xsd:string ; owl:deprecated true . obo:DOID_11963 oboInOwl:hasAlternativeId "DOID:11962"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K20"^^xsd:string, "ICD9CM:530.1"^^xsd:string, "MESH:D004941"^^xsd:string, "NCI:C9224"^^xsd:string, "SNOMEDCT_US_2021_03_01:155673008"^^xsd:string, "UMLS_CUI:C0014868"^^xsd:string ; oboInOwl:hasExactSynonym "acute esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11963"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_11964 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum with retinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11964"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum retinitis"^^xsd:string ; owl:deprecated true . obo:DOID_11968 obo:IAO_0000115 "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N95.2"^^xsd:string, "ICD9CM:627.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:156054004"^^xsd:string, "UMLS_CUI:C0156409"^^xsd:string ; oboInOwl:hasExactSynonym "Senile vaginitis"@en, "atrophic vaginitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11968"^^xsd:string ; a owl:Class ; rdfs:label "postmenopausal atrophic vaginitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2170 . obo:DOID_11970 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11970"^^xsd:string ; a owl:Class ; rdfs:label "obsolete symptomatic menopausal or female climacteric state"^^xsd:string ; owl:deprecated true . obo:DOID_11971 obo:IAO_0000115 "A dysostosis that results_in abnormal fusing of adjacent bones."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013580"^^xsd:string, "UMLS_CUI:C0039093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11971"^^xsd:string ; a owl:Class ; rdfs:label "synostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_11975 oboInOwl:hasDbXref "GARD:13354"^^xsd:string, "GARD:8502"^^xsd:string, "ICD10CM:Q14.2"^^xsd:string, "ICD9CM:377.23"^^xsd:string, "MESH:C535970"^^xsd:string, "OMIM:120430"^^xsd:string, "SNOMEDCT_US_2021_03_01:44295002"^^xsd:string, "UMLS_CUI:C0155299"^^xsd:string ; oboInOwl:hasExactSynonym "Coloboma of optic disc"@en, "Morning glory syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11975"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "coloboma of optic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_1393 . obo:DOID_11976 obo:IAO_0000115 "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F."^^xsd:string ; oboInOwl:hasDbXref "GARD:943"^^xsd:string, "ICD10CM:A05.1"^^xsd:string, "MESH:D001906"^^xsd:string, "NCI:C84599"^^xsd:string, "SNOMEDCT_US_2021_03_01:154276003"^^xsd:string, "UMLS_CUI:C0006057"^^xsd:string ; oboInOwl:hasExactSynonym "Botulism poisoning"@en, "Food poisoning due to Clostridium botulinum"@en, "Foodborne botulism"@en, "Infection due to clostridium botulinum"@en, "Intoxication with Clostridium botulinum toxin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_36826 obo:NCBITaxon_36827 obo:NCBITaxon_36830 obo:NCBITaxon_36831 ) ] ] . obo:DOID_11977 oboInOwl:hasExactSynonym "Magnesium disorder"@en, "disorder of magnesium metabolism"@en, "disorder of magnesium metabolism (disorder)"@en, "disorder of magnesium metabolism NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11977"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of magnesium metabolism"^^xsd:string ; owl:deprecated true . obo:DOID_11978 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic pyelonephritis without lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_11981 oboInOwl:hasDbXref "ICD9CM:278.01"^^xsd:string, "MESH:D009767"^^xsd:string, "NCI:C34858"^^xsd:string, "SNOMEDCT_US_2021_03_01:389986000"^^xsd:string, "UMLS_CUI:C0028756"^^xsd:string ; oboInOwl:hasExactSynonym "Severe obesity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11981"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "morbid obesity"^^xsd:string ; rdfs:subClassOf obo:DOID_9970 . obo:DOID_11983 obo:IAO_0000115 "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity."^^xsd:string ; oboInOwl:hasDbXref "GARD:5575"^^xsd:string, "ICD10CM:Q87.11"^^xsd:string, "ICD9CM:759.81"^^xsd:string, "MESH:D011218"^^xsd:string, "NCI:C75463"^^xsd:string, "OMIM:176270"^^xsd:string, "ORDO:739"^^xsd:string, "SNOMEDCT_US_2021_03_01:205794007"^^xsd:string, "UMLS_CUI:C0032897"^^xsd:string ; oboInOwl:hasExactSynonym "Prader Willi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11983"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Prader-Willi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ], [ a owl:Restriction ; owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ; owl:onClass [ a owl:Class ; owl:unionOf ([ a owl:Class ; owl:intersectionOf (obo:SO_0001745 obo:SO_0002054 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0001776 obo:SO_0002054 obo:SO_1000029 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 obo:SO_1000044 ) ] ) ] ; owl:onProperty obo:IDO_0000664 ] . obo:DOID_11984 obo:IAO_0000115 "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11986"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:425.1"^^xsd:string, "KEGG:05410"^^xsd:string, "MESH:D002312"^^xsd:string, "MESH:D024741"^^xsd:string, "NCI:C34449"^^xsd:string, "NCI:C84773"^^xsd:string, "ORDO:217568"^^xsd:string, "SNOMEDCT_US_2021_03_01:389998005"^^xsd:string, "SNOMEDCT_US_2021_03_01:83978005"^^xsd:string, "UMLS_CUI:C0007194"^^xsd:string, "UMLS_CUI:C0949658"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypertrophic cardiomyopathy"@en, "hypertrophic obstructive cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11984"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypertrophic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_11987 oboInOwl:hasExactSynonym "gonococcal infectious disease of anus and rectum"@en, "gonococcal proctitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11987"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete anorectal gonorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_11988 oboInOwl:hasDbXref "ICD10CM:H11.12"^^xsd:string, "ICD9CM:372.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:13706005"^^xsd:string, "UMLS_CUI:C0155162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11988"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival concretion"^^xsd:string ; rdfs:subClassOf obo:DOID_11653 . obo:DOID_11990 obo:IAO_0000115 "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A21.0"^^xsd:string, "ICD9CM:021.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:37722001"^^xsd:string, "UMLS_CUI:C0152941"^^xsd:string ; oboInOwl:hasExactSynonym "Ulceroglandular tularemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11990"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "ulceroglandular tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123 . obo:DOID_11991 obo:IAO_0000115 "An osteosclerosis that results_in numerous bone islands located_in skeleton."^^xsd:string ; oboInOwl:hasDbXref "GARD:4158"^^xsd:string, "ICD10CM:Q78.8"^^xsd:string, "ICD9CM:756.53"^^xsd:string, "MESH:D010023"^^xsd:string, "NCI:C84985"^^xsd:string, "SNOMEDCT_US_2021_03_01:9147009"^^xsd:string, "UMLS_CUI:C0029455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11991"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteopoikilosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_11994 oboInOwl:hasDbXref "ICD10CM:N50.0"^^xsd:string, "ICD9CM:608.3"^^xsd:string, "NCI:C123259"^^xsd:string, "SNOMEDCT_US_2021_03_01:155938008"^^xsd:string, "UMLS_CUI:C0156312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11994"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrophy of testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_11996 oboInOwl:hasDbXref "ICD10CM:N44.02"^^xsd:string, "ICD9CM:608.2"^^xsd:string, "MESH:D013086"^^xsd:string, "NCI:C26885"^^xsd:string, "OMIM:187400"^^xsd:string, "SNOMEDCT_US_2021_03_01:198046000"^^xsd:string, "UMLS_CUI:C0037856"^^xsd:string ; oboInOwl:hasExactSynonym "Torsion of testicle"@en, "Torsion of testis"@en, "testicular Torsion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatic cord torsion"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_11997 oboInOwl:hasDbXref "ICD10CM:N43.4"^^xsd:string, "ICD9CM:608.1"^^xsd:string, "MESH:D013088"^^xsd:string, "NCI:C120909"^^xsd:string, "SNOMEDCT_US_2021_03_01:155936007"^^xsd:string, "UMLS_CUI:C0037859"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatocele"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_120 obo:IAO_0000115 "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1244"^^xsd:string, "DOID:1281"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57"^^xsd:string, "ICD9CM:184"^^xsd:string, "MESH:D005833"^^xsd:string, "NCI:C3053"^^xsd:string, "NCI:C4913"^^xsd:string, "SNOMEDCT_US_2021_03_01:126907002"^^xsd:string, "SNOMEDCT_US_2021_03_01:188207007"^^xsd:string, "UMLS_CUI:C0017416"^^xsd:string, "UMLS_CUI:C0153585"^^xsd:string, "UMLS_CUI:C0699889"^^xsd:string ; oboInOwl:hasExactSynonym "female reproductive cancer"@en, "malignant Gynecologic tumor"@en, "malignant neoplasm of female genital organ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:120"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "female reproductive organ cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_193, obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000474 ] ) ] . obo:DOID_12000 oboInOwl:hasExactSynonym "metastatic tumor to the Trachea"@en, "secondary malignant neoplasm of trachea (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of trachea"^^xsd:string ; owl:deprecated true . obo:DOID_12001 oboInOwl:hasDbXref "NCI:C6248"^^xsd:string, "UMLS_CUI:C1336773"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Trachea"@en, "lymphoma of the trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheal lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11920, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_12002 obo:IAO_0000115 "A sarcoma and malignant tumor of trachea that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6050"^^xsd:string, "UMLS_CUI:C1336774"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_11920, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_12003 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4448"^^xsd:string, "SNOMEDCT_US_2021_03_01:254620000"^^xsd:string, "UMLS_CUI:C0345946"^^xsd:string ; oboInOwl:hasExactSynonym "Tracheal Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4876, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_1201 oboInOwl:hasDbXref "NCI:C5122"^^xsd:string, "SNOMEDCT_US_2021_03_01:126971002"^^xsd:string, "UMLS_CUI:C1263897"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of trigeminal nerve"@en, "tumor of Trigeminal nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trigeminal nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_12010 oboInOwl:hasDbXref "GARD:9790"^^xsd:string, "ICD10CM:H47.01"^^xsd:string, "ICD9CM:377.41"^^xsd:string, "MESH:D018917"^^xsd:string, "SNOMEDCT_US_2021_03_01:14357004"^^xsd:string, "UMLS_CUI:C0155305"^^xsd:string ; oboInOwl:hasExactSynonym "Ischemic optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12010"^^xsd:string ; a owl:Class ; rdfs:label "anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_12016 oboInOwl:hasAlternativeId "DOID:12015"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.1"^^xsd:string, "ICD9CM:191.1"^^xsd:string, "NCI:C5572"^^xsd:string, "SNOMEDCT_US_2021_03_01:126954003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93807001"^^xsd:string, "UMLS_CUI:C0153635"^^xsd:string, "UMLS_CUI:C1263886"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of frontal lobe"@en, "neoplasm of frontal lobe"@en, "tumor of Frontal Lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal lobe neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016525 ] ) ] . obo:DOID_12017 obo:IAO_0000115 "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly."^^xsd:string ; oboInOwl:hasExactSynonym "Group B"@en, "Group B streptococcal pneumonia (disorder)"@en, "Pneumonia due to Streptococcus Group B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12017"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete group B streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12019 obo:IAO_0000115 "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst."^^xsd:string ; oboInOwl:hasExactSynonym "pneumonia due to streptococcus group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12019"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete group A streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12020 oboInOwl:hasExactSynonym "malignant neoplasm of corpus uteri, excluding isthmus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of corpus uteri, except isthmus"^^xsd:string ; owl:deprecated true . obo:DOID_12021 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving intrathoracic lymph nodes"@en, "Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)"@en, "Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12021"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_12022 oboInOwl:hasExactSynonym "spontaneous abortion, unspecified, complicated by genital tract and pelvic infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12028 obo:IAO_0000115 "An adrenal adenoma characterized by the over production of aldosterone."^^xsd:string ; oboInOwl:hasDbXref "GARD:7456"^^xsd:string, "ICD10CM:E26.01"^^xsd:string, "ICD9CM:255.12"^^xsd:string, "MESH:D006929"^^xsd:string, "NCI:C34510"^^xsd:string, "SNOMEDCT_US_2021_03_01:13536004"^^xsd:string, "UMLS_CUI:C1384514"^^xsd:string ; oboInOwl:hasExactSynonym "Conn syndrome"@en, "primary aldosteronism"@en, "primary hyperaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12028"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Conn's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_656 . obo:DOID_12029 obo:IAO_0000115 "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.13"^^xsd:string, "ICD9CM:360.11"^^xsd:string, "MESH:D009879"^^xsd:string, "SNOMEDCT_US_2021_03_01:75315001"^^xsd:string, "UMLS_CUI:C0029077"^^xsd:string ; oboInOwl:hasExactSynonym "Sympathetic uveitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12029"^^xsd:string ; a owl:Class ; rdfs:label "sympathetic ophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_12030 . obo:DOID_1203 oboInOwl:hasDbXref "ICD9CM:292.8"^^xsd:string, "UMLS_CUI:C0154325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1203"^^xsd:string ; a owl:Class ; rdfs:label "drug-induced mental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8646 . obo:DOID_12030 obo:IAO_0000115 "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid."^^xsd:string ; oboInOwl:hasDbXref "GARD:8577"^^xsd:string, "ICD10CM:H44.11"^^xsd:string, "ICD9CM:360.12"^^xsd:string, "MESH:D015864"^^xsd:string, "NCI:C84989"^^xsd:string, "SNOMEDCT_US_2021_03_01:75614007"^^xsd:string, "UMLS_CUI:C0030343"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse uveitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "panuveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13141, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1204 oboInOwl:hasExactSynonym "Arthropathy associated with a hypersensitivity reaction (disorder)"@en, "Arthropathy associated with hypersensitivity reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arthropathy due to hypersensitivity reaction"^^xsd:string ; owl:deprecated true . obo:DOID_12040 oboInOwl:hasExactSynonym "Hydrops fetalis - due to isoim"@en, "Hydrops fetalis due to isoimmunization"@en, "Hydrops fetalis due to isoimmunization (disorder)"@en, "Hydrops fetalis due to isoimmunization [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12040"^^xsd:string ; a owl:Class ; rdfs:label "obsolete immune hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_12043 oboInOwl:hasDbXref "ICD10CM:P57.0"^^xsd:string, "ICD9CM:773.4"^^xsd:string, "NCI:C101270"^^xsd:string, "SNOMEDCT_US_2021_03_01:206433007"^^xsd:string, "UMLS_CUI:C0270204"^^xsd:string ; oboInOwl:hasExactSynonym "Kernicterus due to isoimmunization"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kernicterus due to isoimmunization"^^xsd:string ; rdfs:subClassOf obo:DOID_2383 . obo:DOID_1205 obo:IAO_0000115 "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods."^^xsd:string ; obo:OBI_9991118 "allergic disease"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:T78.40"^^xsd:string, "MESH:D006967"^^xsd:string, "NCI:C3114"^^xsd:string, "SNOMEDCT_US_2021_03_01:257550005"^^xsd:string, "UMLS_CUI:C0020517"^^xsd:string ; oboInOwl:hasExactSynonym "allergic hypersensitivity disease"@en, "hypersensitivity"@en, "hypersensitivity reaction type I disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] ) ] . obo:DOID_12052 obo:IAO_0000115 "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion."^^xsd:string ; oboInOwl:hasExactSynonym "Cryptococcal meningitis"@en, "Cryptococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cryptococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12053 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii."^^xsd:string ; oboInOwl:hasDbXref "GARD:6218"^^xsd:string, "ICD10CM:B45"^^xsd:string, "ICD9CM:117.5"^^xsd:string, "MESH:D003453"^^xsd:string, "NCI:C2967"^^xsd:string, "SNOMEDCT_US_2021_03_01:42386007"^^xsd:string, "UMLS_CUI:C0010414"^^xsd:string ; oboInOwl:hasExactSynonym "Busse-Buschke's disease"@en, "European cryptococcosis"@en, "cryptococcal infection"@en, "torula"@en, "torulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cryptococcus neoformans infection"@en ; oboInOwl:id "DOID:12053"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cryptococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473 ; skos:exactMatch "MESH:D003453"^^xsd:string . obo:DOID_12054 obo:IAO_0000115 "A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species."^^xsd:string ; oboInOwl:hasExactSynonym "Meningitis due to trypanosomiasis"@en, "Trypanosomiasis with meningitis (disorder)"@en, "trypanosomiasis with meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12054"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12055 oboInOwl:hasDbXref "ICD10CM:D86.81"^^xsd:string, "ICD9CM:321.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:192673008"^^xsd:string, "UMLS_CUI:C0154648"^^xsd:string ; oboInOwl:hasExactSynonym "Meningitis in sarcoidosis"@en, "Sarcoid meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12055"^^xsd:string ; a owl:Class ; rdfs:label "sarcoid meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13403 . obo:DOID_12056 oboInOwl:hasExactSynonym "Non-pyogenic meningitis (disorder)"@en, "Nonpyogenic meningitis"@en, "Nonpyogenic meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12056"^^xsd:string ; a owl:Class ; rdfs:label "obsolete meningitis with clear cerebrospinal fluid"^^xsd:string ; owl:deprecated true . obo:DOID_12058 oboInOwl:hasAlternativeId "DOID:12059"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal-maternal hemorrhage, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12058"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fetal-maternal hemorrhage affecting management of mother"^^xsd:string ; owl:deprecated true . obo:DOID_1206 obo:IAO_0000115 "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:5696"^^xsd:string, "ICD10CM:F84.2"^^xsd:string, "MESH:D015518"^^xsd:string, "NCI:C75488"^^xsd:string, "OMIM:312750"^^xsd:string, "OMIM:613454"^^xsd:string, "SNOMEDCT_US_2021_03_01:192583003"^^xsd:string, "UMLS_CUI:C0035372"^^xsd:string ; oboInOwl:hasExactSynonym "Rett's disorder"@en, "cerebroatrophic hyperammonemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1206"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Rett syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060040 . obo:DOID_12061 oboInOwl:hasExactSynonym "Fetal blood loss (disorder)"@en, "Fetal blood loss NOS (disorder)"@en, "Fetal blood loss, unspecified (disorder)"@en, "Fetal haemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12061"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal blood loss"^^xsd:string ; owl:deprecated true . obo:DOID_12064 oboInOwl:hasDbXref "NCI:C6631"^^xsd:string, "UMLS_CUI:C1334674"^^xsd:string ; oboInOwl:hasExactSynonym "Neurofibroma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12064"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691, obo:DOID_962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_962 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] ) ] . obo:DOID_12065 oboInOwl:hasExactSynonym "Ganglioneuroma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12065"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ganglioneuroma of the mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_12070 oboInOwl:hasAlternativeId "DOID:11791"^^xsd:string ; oboInOwl:hasDbXref "GARD:10930"^^xsd:string, "ICD10CM:K31.82"^^xsd:string, "ICD9CM:537.84"^^xsd:string, "UMLS_CUI:C1135229"^^xsd:string ; oboInOwl:hasExactSynonym "Dieulafoy lesion (hemorrhagic) of intestine"@en, "dieulafoy lesion (hemorrhagic) of stomach and duodenum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12070"^^xsd:string ; a owl:Class ; rdfs:label "Dieulafoy lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12072 oboInOwl:hasDbXref "ICD9CM:537.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:335002"^^xsd:string, "UMLS_CUI:C0152163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12072"^^xsd:string ; a owl:Class ; rdfs:label "pylorospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12076 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12076"^^xsd:string ; a owl:Class ; rdfs:label "obsolete interstitial emphysema and related conditions of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12084 oboInOwl:hasAlternativeId "DOID:10502"^^xsd:string, "DOID:11494"^^xsd:string, "DOID:12080"^^xsd:string, "DOID:12081"^^xsd:string, "DOID:12083"^^xsd:string, "DOID:2091"^^xsd:string, "DOID:9424"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:716.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:201988000"^^xsd:string, "UMLS_CUI:C0158007"^^xsd:string ; oboInOwl:hasExactSynonym "Transient arthropathy involving forearm"@en, "Transient arthropathy involving hand"@en, "Transient arthropathy involving lower leg"@en, "Transient arthropathy involving multiple sites"@en, "Transient arthropathy involving pelvic region and thigh"@en, "Transient arthropathy involving shoulder region"@en, "Transient arthropathy involving upper arm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12084"^^xsd:string ; a owl:Class ; rdfs:label "transient arthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2092 . obo:DOID_12087 oboInOwl:hasDbXref "ICD10CM:H16.44"^^xsd:string, "ICD9CM:370.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:2102007"^^xsd:string, "UMLS_CUI:C0155095"^^xsd:string ; oboInOwl:hasExactSynonym "Deep vascularization of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12087"^^xsd:string ; a owl:Class ; rdfs:label "deep corneal vascularisation"^^xsd:string ; rdfs:subClassOf obo:DOID_11382 . obo:DOID_1209 obo:IAO_0000115 "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H46.2"^^xsd:string, "ICD9CM:377.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:82108004"^^xsd:string, "UMLS_CUI:C0155302"^^xsd:string ; oboInOwl:hasExactSynonym "Nutritional optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1209"^^xsd:string ; a owl:Class ; rdfs:label "nutritional optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_12091 oboInOwl:hasExactSynonym "vitamin A deficiency with corneal xerosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with corneal xerosis"^^xsd:string ; owl:deprecated true . obo:DOID_12092 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Galactorrhea associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_12096 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A25.0"^^xsd:string, "ICD9CM:026.0"^^xsd:string, "MESH:D011906"^^xsd:string, "SNOMEDCT_US_2021_03_01:19044004"^^xsd:string, "UMLS_CUI:C0152062"^^xsd:string ; oboInOwl:hasExactSynonym "Spirillary fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Spirillosis"@en ; oboInOwl:id "DOID:12096"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sodoku disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_12097 oboInOwl:hasExactSynonym "Rat bite fever (disorder)"@en, "Rat-bite fever"@en, "Rat-bite fever NOS (disorder)"@en, "Rat-bite fever, unspecified (disorder)"@en, "Unspecified rat-bite fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12097"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete rat-bite fever"^^xsd:string ; owl:deprecated true . obo:DOID_12098 oboInOwl:hasDbXref "GARD:7805"^^xsd:string, "ICD10CM:G50.0"^^xsd:string, "ICD9CM:350.1"^^xsd:string, "MESH:D014277"^^xsd:string, "OMIM:190400"^^xsd:string, "SNOMEDCT_US_2021_03_01:155066002"^^xsd:string, "UMLS_CUI:C0040997"^^xsd:string ; oboInOwl:hasExactSynonym "Trifacial neuralgia"@en, "Trigeminal neuralgia"@en, "trifocal neuralgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12098"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "trigeminal neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_561 . obo:DOID_121 obo:IAO_0000115 "A female reproductive system disease that is located_in the vagina."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014623"^^xsd:string, "NCI:C26910"^^xsd:string, "SNOMEDCT_US_2021_03_01:25658005"^^xsd:string, "UMLS_CUI:C0042251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:121"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_1210 obo:IAO_0000115 "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision."^^xsd:string ; oboInOwl:hasDbXref "GARD:7320"^^xsd:string, "ICD10CM:H46"^^xsd:string, "ICD9CM:377.3"^^xsd:string, "MESH:D009902"^^xsd:string, "NCI:C84950"^^xsd:string, "SNOMEDCT_US_2021_03_01:194051001"^^xsd:string, "UMLS_CUI:C0029134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_12104 oboInOwl:hasExactSynonym "vitamin A deficiency with corneal ulceration AND xerosis (disorder)"@en, "vitamin A deficiency with corneal ulceration and xerosis"@en, "vitamin A deficiency with corneal xerosis and ulcer (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with corneal xerosis and ulcer"^^xsd:string ; owl:deprecated true . obo:DOID_12105 oboInOwl:hasDbXref "ICD9CM:720.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:6963001"^^xsd:string, "UMLS_CUI:C0021396"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory spondylopathies in disease EC"@en, "Inflammatory spondylopathies in disease classified elsewhere"@en, "Inflammatory spondylopathy in disease classified elsewhere"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12105"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory spondylopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_6590 . obo:DOID_12106 oboInOwl:hasExactSynonym "Syphilitic endocarditis of tricuspid valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12106"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tricuspid valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_12107 oboInOwl:hasExactSynonym "primary retinal cyst (disorder)"@en, "primary retinal cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary retinal cyst"^^xsd:string ; owl:deprecated true . obo:DOID_12108 oboInOwl:hasDbXref "ICD9CM:361.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:65545003"^^xsd:string, "UMLS_CUI:C0344289"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12108"^^xsd:string ; a owl:Class ; rdfs:label "bullous retinoschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_8465 . obo:DOID_12111 oboInOwl:hasExactSynonym "vitamin A deficiency with xerophthalmic corneal scars (disorder)"@en, "vitamin A deficiency with xerophthalmic scars of cornea"@en, "vitamin A deficiency with xerophthalmic scars of cornea (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with xerophthalmic corneal scar"^^xsd:string ; owl:deprecated true . obo:DOID_12113 oboInOwl:hasExactSynonym "nerve conduction deafness"@en, "neural hearing loss"@en, "neural hearing loss (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nerve deafness"^^xsd:string ; owl:deprecated true . obo:DOID_12115 obo:IAO_0000115 "A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills."^^xsd:string ; oboInOwl:hasExactSynonym "Septic sore throat due to streptococcal infection"@en, "Strept throat"@en, "Streptococcal angina"@en, "Streptococcal sore throat"@en, "Streptococcal sore throat NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12115"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal pharyngitis"^^xsd:string ; owl:deprecated true . obo:DOID_12117 obo:IAO_0000115 "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:11894"^^xsd:string, "ICD10CM:J84.02"^^xsd:string, "ICD9CM:516.2"^^xsd:string, "MESH:C562405"^^xsd:string, "OMIM:265100"^^xsd:string, "SNOMEDCT_US_2021_03_01:196160008"^^xsd:string, "UMLS_CUI:C0155912"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12117"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pulmonary alveolar microlithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_12118 obo:IAO_0000115 "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050330"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.03"^^xsd:string, "ICD9CM:516.1"^^xsd:string, "MESH:C536281"^^xsd:string, "OMIM:178550"^^xsd:string, "OMIM:235500"^^xsd:string, "ORDO:99931"^^xsd:string, "SNOMEDCT_US_2021_03_01:190848001"^^xsd:string, "UMLS_CUI:C0020807"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic pulmonary hemosiderosis"@en, "brown induration"@en, "brown lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12118"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "pulmonary hemosiderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_12119, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_12119 obo:IAO_0000115 "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload."^^xsd:string ; oboInOwl:hasDbXref "GARD:6595"^^xsd:string, "MESH:D006486"^^xsd:string, "SNOMEDCT_US_2021_03_01:39011001"^^xsd:string, "UMLS_CUI:C0019114"^^xsd:string ; oboInOwl:hasExactSynonym "haemosiderosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemosiderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2351 . obo:DOID_12120 obo:IAO_0000115 "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.01"^^xsd:string, "ICD9CM:516.0"^^xsd:string, "MESH:D011649"^^xsd:string, "NCI:C85037"^^xsd:string, "OMIM:265120"^^xsd:string, "OMIM:300770"^^xsd:string, "OMIM:610913"^^xsd:string, "OMIM:610921"^^xsd:string, "OMIM:614370"^^xsd:string, "ORDO:264675"^^xsd:string, "SNOMEDCT_US_2021_03_01:10501004"^^xsd:string, "UMLS_CUI:C0034050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12120"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "pulmonary alveolar proteinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_12121 oboInOwl:hasExactSynonym "secondary syphilitic periostitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12121"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic periostitis"^^xsd:string ; owl:deprecated true . obo:DOID_12123 oboInOwl:hasDbXref "ICD10CM:J84.10"^^xsd:string, "ICD9CM:515"^^xsd:string, "SNOMEDCT_US_2021_03_01:266368002"^^xsd:string, "UMLS_CUI:C0175999"^^xsd:string ; oboInOwl:hasExactSynonym "Post-inflammatory pulmonary fibrosis"@en, "Postinflammatory pulmonary fibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12123"^^xsd:string ; a owl:Class ; rdfs:label "postinflammatory pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770 . obo:DOID_12124 obo:IAO_0000115 "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.11"^^xsd:string, "ICD9CM:379.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:194141004"^^xsd:string, "UMLS_CUI:C0155351"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12124"^^xsd:string ; a owl:Class ; rdfs:label "episcleritis periodica fugax"^^xsd:string ; rdfs:subClassOf obo:DOID_11343, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_12125 oboInOwl:hasDbXref "ICD10CM:H16.23"^^xsd:string, "ICD9CM:370.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:193777005"^^xsd:string, "UMLS_CUI:C0155084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12125"^^xsd:string ; a owl:Class ; rdfs:label "neurotrophic keratoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_12128 obo:IAO_0000115 "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:307.52"^^xsd:string, "MESH:D010842"^^xsd:string, "NCI:C92566"^^xsd:string, "SNOMEDCT_US_2021_03_01:14077003"^^xsd:string, "UMLS_CUI:C0031873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pica disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_12129 obo:IAO_0000115 "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F50.2"^^xsd:string, "MESH:D002032"^^xsd:string, "NCI:C97162"^^xsd:string, "SNOMEDCT_US_2021_03_01:78004001"^^xsd:string, "UMLS_CUI:C0006370"^^xsd:string ; oboInOwl:hasExactSynonym "hyperorexia nervosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12129"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "bulimia nervosa"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_1213 oboInOwl:hasExactSynonym "Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)"@en, "Tympanosclerosis involving tympanic membrane and ear ossicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1213"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tympanosclerosis of tympanic membrane and ossicles"^^xsd:string ; owl:deprecated true . obo:DOID_12132 obo:IAO_0000115 "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels."^^xsd:string ; oboInOwl:hasDbXref "GARD:7880"^^xsd:string, "ICD10CM:M31.3"^^xsd:string, "ICD9CM:446.4"^^xsd:string, "MESH:D014890"^^xsd:string, "NCI:C3444"^^xsd:string, "OMIM:608710"^^xsd:string, "SNOMEDCT_US_2021_03_01:195353004"^^xsd:string, "UMLS_CUI:C3495801"^^xsd:string ; oboInOwl:hasExactSynonym "Necrotizing respiratory granulomatosis"@en, "Wegener granulomatosis, formerly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatosis with polyangiitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060050, obo:DOID_37, obo:DOID_557, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000153 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000709 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_12133 obo:IAO_0000115 "A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children)."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Yersinia enterocolitica (disorder)"@en, "Yersinia enterocolitis"@en, "infectious disease by Yersinia enterocolitica"@en, "intestinal infection due to yersinia enterocolitica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12133"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia enterocolitica intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12134 obo:IAO_0000115 "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged."^^xsd:string ; oboInOwl:hasDbXref "GARD:6591"^^xsd:string, "ICD10CM:D66"^^xsd:string, "ICD9CM:286.0"^^xsd:string, "MESH:D006467"^^xsd:string, "NCI:C27146"^^xsd:string, "OMIM:306700"^^xsd:string, "ORDO:98878"^^xsd:string, "SNOMEDCT_US_2021_03_01:28293008"^^xsd:string, "UMLS_CUI:C0019069"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital factor VIII disorder"@en, "Hemophilia A"@en, "Subhemophilia"@en, "classic hemophilia A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor VIII deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D006467"^^xsd:string . obo:DOID_12135 oboInOwl:hasExactSynonym "acquired factor VIII deficiency disease (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12135"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired factor VIII deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12136 oboInOwl:hasExactSynonym "acquired coagulation factor deficiency"@en, "acquired coagulation factor deficiency (disorder)"@en, "acquired coagulation factor deficiency NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12136"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired coagulation factor deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12139 obo:IAO_0000115 "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F34.1"^^xsd:string, "ICD9CM:300.4"^^xsd:string, "MESH:D019263"^^xsd:string, "NCI:C34562"^^xsd:string, "SNOMEDCT_US_2021_03_01:192384008"^^xsd:string, "UMLS_CUI:C0013415"^^xsd:string ; oboInOwl:hasExactSynonym "dysthymia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysthymic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3324 . obo:DOID_1214 oboInOwl:hasDbXref "ICD9CM:385.09"^^xsd:string, "SNOMEDCT_US_2021_03_01:111540000"^^xsd:string, "UMLS_CUI:C0155477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1214"^^xsd:string ; a owl:Class ; rdfs:label "tympanosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_12140 obo:IAO_0000115 "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050016"^^xsd:string, "DOID:0050019"^^xsd:string, "DOID:0050020"^^xsd:string ; oboInOwl:hasDbXref "GARD:6030"^^xsd:string, "ICD9CM:086.2"^^xsd:string, "KEGG:05142"^^xsd:string, "SNOMEDCT_US_2021_03_01:186817003"^^xsd:string, "UMLS_CUI:C0007932"^^xsd:string ; oboInOwl:hasExactSynonym "Chagas' disease"@en, "chagas' disease with digestive system involvement"@en, "chagas' disease with nervous system involvement"@en, "chagas' disease with other organ involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "American trypanosomiasis"@en ; oboInOwl:id "DOID:12140"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Chagas disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10113, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5693 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12141 obo:IAO_0000115 "An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "non-arthropod-borne meningitis due to adenovirus"@en ; oboInOwl:id "DOID:12141"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12143 oboInOwl:hasDbXref "ICD9CM:596.54"^^xsd:string, "MESH:D001750"^^xsd:string, "NCI:C79696"^^xsd:string, "SNOMEDCT_US_2021_03_01:192972000"^^xsd:string, "UMLS_CUI:C0005697"^^xsd:string ; oboInOwl:hasExactSynonym "Neuropathic bladder"@en, "neurogenic dysfunction of the urinary bladder"@en, "neurogenic urinary bladder disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurogenic bladder"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12144 oboInOwl:hasDbXref "ICD9CM:596.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:9009001"^^xsd:string, "UMLS_CUI:C0489967"^^xsd:string ; oboInOwl:hasExactSynonym "Low bladder compliance"@en, "hyperactivity of bladder"@en, "hypertonic bladder"@en, "hypertonicity of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12144"^^xsd:string ; a owl:Class ; rdfs:label "low compliance bladder"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12145 oboInOwl:hasDbXref "ICD9CM:596.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:236655005"^^xsd:string, "UMLS_CUI:C0341747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12145"^^xsd:string ; a owl:Class ; rdfs:label "detrusor sphincter dyssynergia"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12148 obo:IAO_0000115 "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12147"^^xsd:string, "DOID:2774"^^xsd:string ; oboInOwl:hasDbXref "GARD:207"^^xsd:string, "ICD10CM:B67.7"^^xsd:string, "ICD9CM:122.7"^^xsd:string, "MESH:C536591"^^xsd:string, "SNOMEDCT_US_2021_03_01:21009004"^^xsd:string, "UMLS_CUI:C0152069"^^xsd:string ; oboInOwl:hasExactSynonym "Multilocular hydatid"@en, "alveolococcosis"@en, "small fox tapeworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "echinococcus multilocularis infection"@en ; oboInOwl:id "DOID:12148"^^xsd:string ; a owl:Class ; rdfs:label "alveolar echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1496, obo:DOID_409, obo:DOID_850, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_1215 oboInOwl:hasExactSynonym "Tympanosclerosis involving tympanic membrane only"@en, "Tympanosclerosis involving tympanic membrane only (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tympanosclerosis of tympanic membrane only"^^xsd:string ; owl:deprecated true . obo:DOID_12150 oboInOwl:hasExactSynonym "Cholelithiasis AND acute cholecystitis with obstruction (disorder)"@en, "gallbladder calculus with acute cholecystitis and obstruction (disorder)"@en, "gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder with acute cholecystitis, with obstruction"^^xsd:string ; owl:deprecated true . obo:DOID_12151 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12151"^^xsd:string ; a owl:Class ; rdfs:label "obsolete currently pregnant habitual aborter"^^xsd:string ; owl:deprecated true . obo:DOID_12155 obo:IAO_0000115 "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10662"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A87.2"^^xsd:string, "MESH:D008216"^^xsd:string, "NCI:C174114"^^xsd:string, "SNOMEDCT_US_2021_03_01:192668002"^^xsd:string, "UMLS_CUI:C0024266"^^xsd:string ; oboInOwl:hasExactSynonym "LCM"@en, "Lymphocytic choriomeningitis virus encephalomyelitis"@en, "Lymphocytic meningitis"@en, "Lymphocytic meningoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12155"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "lymphocytic choriomeningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11623 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_10090 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_12156 oboInOwl:hasDbXref "GARD:5839"^^xsd:string, "ICD10CM:G03"^^xsd:string, "MESH:D001100"^^xsd:string, "NCI:C37913"^^xsd:string, "SNOMEDCT_US_2021_03_01:154986008"^^xsd:string, "UMLS_CUI:C0003708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arachnoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471 . obo:DOID_12157 obo:IAO_0000115 "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G03.0"^^xsd:string, "MESH:D008582"^^xsd:string, "NCI:C118299"^^xsd:string, "SNOMEDCT_US_2021_03_01:186490006"^^xsd:string, "UMLS_CUI:C0025290"^^xsd:string ; oboInOwl:hasExactSynonym "acute aseptic meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aseptic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_12161 oboInOwl:hasDbXref "ICD10CM:H35.4"^^xsd:string, "ICD9CM:362.6"^^xsd:string, "NCI:C34919"^^xsd:string, "SNOMEDCT_US_2021_03_01:193393004"^^xsd:string, "UMLS_CUI:C1320640"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12161"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_12162 oboInOwl:hasDbXref "ICD10CM:H35.45"^^xsd:string, "ICD9CM:362.65"^^xsd:string, "SNOMEDCT_US_2021_03_01:35545005"^^xsd:string, "UMLS_CUI:C0154858"^^xsd:string ; oboInOwl:hasExactSynonym "secondary pigmentary degeneration of retina"@en, "secondary pigmentary retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12162"^^xsd:string ; a owl:Class ; rdfs:label "pseudoretinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12163 oboInOwl:hasDbXref "ICD9CM:362.64"^^xsd:string, "SNOMEDCT_US_2021_03_01:54184008"^^xsd:string, "UMLS_CUI:C0154857"^^xsd:string ; oboInOwl:hasExactSynonym "Senile reticular degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12163"^^xsd:string ; a owl:Class ; rdfs:label "senile reticular retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12164 oboInOwl:hasDbXref "ICD10CM:H35.42"^^xsd:string, "ICD9CM:362.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:37075008"^^xsd:string, "UMLS_CUI:C0154855"^^xsd:string ; oboInOwl:hasExactSynonym "Blessig cysts"@en, "Iwanoff's cysts"@en, "Microcystoid degeneration of retina"@en, "Microcystoid retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12164"^^xsd:string ; a owl:Class ; rdfs:label "Blessig's cysts"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12165 oboInOwl:hasDbXref "ICD10CM:H35.41"^^xsd:string, "ICD9CM:362.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:3577000"^^xsd:string, "UMLS_CUI:C0154856"^^xsd:string ; oboInOwl:hasExactSynonym "Palisade degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12165"^^xsd:string ; a owl:Class ; rdfs:label "retinal lattice degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12166 oboInOwl:hasDbXref "ICD10CM:H35.43"^^xsd:string, "ICD9CM:362.61"^^xsd:string, "SNOMEDCT_US_2021_03_01:69134001"^^xsd:string, "UMLS_CUI:C0154854"^^xsd:string ; oboInOwl:hasExactSynonym "Paving stone degeneration of retina"@en, "Paving stone retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12166"^^xsd:string ; a owl:Class ; rdfs:label "cobblestone retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12167 oboInOwl:hasDbXref "ICD10CM:H35.46"^^xsd:string, "ICD9CM:362.66"^^xsd:string, "SNOMEDCT_US_2021_03_01:193397003"^^xsd:string, "UMLS_CUI:C0154859"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12167"^^xsd:string ; a owl:Class ; rdfs:label "secondary vitreoretinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12168 oboInOwl:hasDbXref "ICD10CM:G56.2"^^xsd:string, "ICD9CM:354.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:55802003"^^xsd:string, "UMLS_CUI:C1288279"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of ulnar nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12168"^^xsd:string ; a owl:Class ; rdfs:label "ulnar nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_572 . obo:DOID_12169 oboInOwl:hasDbXref "ICD10CM:G56.0"^^xsd:string, "ICD9CM:354.0"^^xsd:string, "MESH:D002349"^^xsd:string, "NCI:C34450"^^xsd:string, "OMIM:115430"^^xsd:string, "SNOMEDCT_US_2021_03_01:193126005"^^xsd:string, "UMLS_CUI:C0007286"^^xsd:string ; oboInOwl:hasExactSynonym "CTS - Carpal tunnel syndrome"@en, "Carpal tunnel syndrome"@en, "Median nerve entrapment"@en, "carpal tunnel median neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "carpal tunnel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_573 . obo:DOID_1217 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005213"^^xsd:string, "SNOMEDCT_US_2021_03_01:69550000"^^xsd:string, "UMLS_CUI:C0015655"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1217"^^xsd:string ; a owl:Class ; rdfs:label "fascioloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_12170 oboInOwl:hasDbXref "ICD10CM:G56.3"^^xsd:string, "ICD9CM:354.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:16644004"^^xsd:string, "UMLS_CUI:C0154744"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of radial nerve"@en, "Radial nerve lesion"@en, "Radial nerve lesions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12170"^^xsd:string ; a owl:Class ; rdfs:label "radial nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_12171 . obo:DOID_12171 oboInOwl:hasDbXref "MESH:D020425"^^xsd:string, "SNOMEDCT_US_2021_03_01:16644004"^^xsd:string, "UMLS_CUI:C0748226"^^xsd:string ; oboInOwl:hasExactSynonym "Radial neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12171"^^xsd:string ; a owl:Class ; rdfs:label "radial neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_12175 oboInOwl:hasDbXref "ICD10CM:E07.1"^^xsd:string, "ICD9CM:246.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:190304001"^^xsd:string, "UMLS_CUI:C0152077"^^xsd:string ; oboInOwl:hasExactSynonym "Dyshormonogenic goiter"@en, "Dyshormonogenic goitre"@en, "dyshormonogenic goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12175"^^xsd:string ; a owl:Class ; rdfs:label "dyshormonogenic goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_12176 obo:IAO_0000115 "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E04.9"^^xsd:string, "ICD9CM:240.9"^^xsd:string, "MESH:D006042"^^xsd:string, "NCI:C26785"^^xsd:string, "SNOMEDCT_US_2021_03_01:237568003"^^xsd:string, "UMLS_CUI:C0018021"^^xsd:string ; oboInOwl:hasExactSynonym "goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12176"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_50 ; skos:exactMatch "MESH:D006042"^^xsd:string . obo:DOID_12177 obo:IAO_0000115 "An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6140"^^xsd:string, "ICD10CM:D83"^^xsd:string, "ICD9CM:279.06"^^xsd:string, "MESH:D017074"^^xsd:string, "OMIM:240500"^^xsd:string, "OMIM:607594"^^xsd:string, "OMIM:613493"^^xsd:string, "OMIM:613494"^^xsd:string, "OMIM:613495"^^xsd:string, "OMIM:613496"^^xsd:string, "OMIM:614699"^^xsd:string, "OMIM:614700"^^xsd:string, "OMIM:615577"^^xsd:string, "OMIM:615767"^^xsd:string, "ORDO:1572"^^xsd:string, "SNOMEDCT_US_2021_03_01:191010004"^^xsd:string, "UMLS_CUI:C0009447"^^xsd:string ; oboInOwl:hasExactSynonym "CVID"@en, "acquired agammaglobulinemia"@en, "acquired hypogammaglobulinemia"@en, "common variable agammaglobulinemia"@en, "sporadic hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12177"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "common variable immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2583, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004313 ] . obo:DOID_12179 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:110.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:186994008"^^xsd:string, "UMLS_CUI:C0546826"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis of the body"@en, "Dermatophytosis of the trunk"@en, "dermatophytosis of the body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12179"^^xsd:string ; a owl:Class ; rdfs:label "tinea corporis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002027 ] . obo:DOID_1218 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.8"^^xsd:string, "MESH:D004451"^^xsd:string, "SNOMEDCT_US_2021_03_01:52918004"^^xsd:string, "UMLS_CUI:C0013514"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Echinochasmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1218"^^xsd:string ; a owl:Class ; rdfs:label "echinostomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_27847 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12180 oboInOwl:hasExactSynonym "fetal macrosomia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12180"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fetal Macrosomia"^^xsd:string ; owl:deprecated true . obo:DOID_12185 obo:IAO_0000115 "An otitis interna characterized by an abnormal bone growth in the middle ear."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004213"^^xsd:string, "ICD10CM:H80.80"^^xsd:string, "ICD9CM:387.8"^^xsd:string, "OMIM:166800"^^xsd:string, "OMIM:605727"^^xsd:string, "OMIM:608244"^^xsd:string, "OMIM:608484"^^xsd:string, "OMIM:611571"^^xsd:string, "OMIM:611572"^^xsd:string, "OMIM:612096"^^xsd:string, "OMIM:615589"^^xsd:string, "ORDO:2794"^^xsd:string, "SNOMEDCT_US_2021_03_01:194382008"^^xsd:string, "UMLS_CUI:C0029696"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12185"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "otosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 ; skos:exactMatch "MESH:D010040"^^xsd:string . obo:DOID_12189 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12189"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the colon"^^xsd:string ; owl:deprecated true . obo:DOID_1219 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.2"^^xsd:string, "MESH:D004011"^^xsd:string, "SNOMEDCT_US_2021_03_01:8410006"^^xsd:string, "UMLS_CUI:C0012102"^^xsd:string ; oboInOwl:hasExactSynonym "disease due to Dicrocoeliidae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1219"^^xsd:string ; a owl:Class ; rdfs:label "dicrocoeliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_12190 oboInOwl:hasDbXref "ICD10CM:C18.6"^^xsd:string, "ICD9CM:153.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93771007"^^xsd:string, "UMLS_CUI:C0153435"^^xsd:string ; oboInOwl:hasExactSynonym "Ca descending colon"@en, "malignant neoplasm of left colon"@en, "malignant tumor of descending colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12190"^^xsd:string ; a owl:Class ; rdfs:label "descending colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001158 ] ) ] . obo:DOID_12191 oboInOwl:hasDbXref "ICD10CM:C18.5"^^xsd:string, "ICD9CM:153.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:94072004"^^xsd:string, "UMLS_CUI:C0153440"^^xsd:string ; oboInOwl:hasExactSynonym "Ca splenic flexure - colon"@en, "malignant neoplasm of splenic flexure"@en, "malignant tumor of splenic flexure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12191"^^xsd:string ; a owl:Class ; rdfs:label "splenic flexure cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_12190 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0022276 ] ) ] . obo:DOID_12192 oboInOwl:hasDbXref "ICD10CM:C18.7"^^xsd:string, "ICD9CM:153.3"^^xsd:string, "MESH:D012811"^^xsd:string, "SNOMEDCT_US_2021_03_01:94006002"^^xsd:string, "UMLS_CUI:C0153436"^^xsd:string ; oboInOwl:hasExactSynonym "Ca sigmoid colon"@en, "malignant tumor of sigmoid colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12192"^^xsd:string ; a owl:Class ; rdfs:label "sigmoid colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001159 ] ) ] . obo:DOID_12196 oboInOwl:hasDbXref "ICD10CM:H16.10"^^xsd:string, "ICD9CM:370.20"^^xsd:string, "SNOMEDCT_US_2021_03_01:27019000"^^xsd:string, "UMLS_CUI:C0155074"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12196"^^xsd:string ; a owl:Class ; rdfs:label "superficial keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_12197 oboInOwl:hasDbXref "ICD10CM:H16.14"^^xsd:string, "ICD9CM:370.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193767008"^^xsd:string, "UMLS_CUI:C0259799"^^xsd:string ; oboInOwl:hasExactSynonym "Punctate keratitis"@en, "Thygeson superficial punctate keratitis"@en, "Thygeson's superficial punctate keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12197"^^xsd:string ; a owl:Class ; rdfs:label "punctate epithelial keratoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_122 obo:IAO_0000115 "A cancer by anatomical entitiy that affects the organs in the abdominal cavity."^^xsd:string ; oboInOwl:hasExactSynonym "abdomen neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:122"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abdominal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_12204 oboInOwl:hasExactSynonym "Catatonic schizophrenia in remission (disorder)"@en, "Catatonic type schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12205 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050142"^^xsd:string ; oboInOwl:hasDbXref "GARD:6254"^^xsd:string, "ICD10CM:A90"^^xsd:string, "ICD9CM:061"^^xsd:string, "MESH:D003715"^^xsd:string, "NCI:C34528"^^xsd:string, "SNOMEDCT_US_2021_03_01:38362002"^^xsd:string, "UMLS_CUI:C0011311"^^xsd:string ; oboInOwl:hasExactSynonym "Dengue Fever"@en, "breakbone fever"@en, "classic dengue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "classical dengue"@en ; oboInOwl:id "DOID:12205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11053 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_12206 obo:IAO_0000115 "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A91"^^xsd:string, "MESH:D019595"^^xsd:string, "NCI:C34683"^^xsd:string, "SNOMEDCT_US_2021_03_01:20927009"^^xsd:string, "UMLS_CUI:C0019100"^^xsd:string ; oboInOwl:hasExactSynonym "DHF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Dengue haemorrhagic fever"@en ; oboInOwl:id "DOID:12206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_12205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ] . obo:DOID_1221 obo:IAO_0000115 "A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1221"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete infiltrative lung tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_12210 obo:IAO_0000115 "A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis."^^xsd:string ; oboInOwl:hasExactSynonym "Bancroftian filariasis"@en, "Infection by Wuchereria bancrofti (disorder)"@en, "Infection due to Wuchereria bancrofti"@en, "Wuchereria bancrofti infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Wuchereria bancrofti filariasis"^^xsd:string ; owl:deprecated true . obo:DOID_12211 obo:IAO_0000115 "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13433"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004605"^^xsd:string, "NCI:C128360"^^xsd:string, "SNOMEDCT_US_2021_03_01:240820001"^^xsd:string, "UMLS_CUI:C0013884"^^xsd:string ; oboInOwl:hasExactSynonym "Bancroftian elephantiasis"@en, "Bancroftian filarial chyluria"@en, "Elephantiasis of eyelid"@en, "Lymphatic filariasis"@en, "elephantiasis of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "filarial elephantiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000962 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000263 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019155 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_12215 obo:IAO_0000115 "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12595"^^xsd:string, "DOID:12596"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O41.0"^^xsd:string, "ICD9CM:658.0"^^xsd:string, "MESH:D016104"^^xsd:string, "NCI:C92839"^^xsd:string, "SNOMEDCT_US_2021_03_01:157051001"^^xsd:string, "UMLS_CUI:C0079924"^^xsd:string ; oboInOwl:hasExactSynonym "Oligohydramnios - delivered"@en, "antepartum oligohydramnios"@en, "delivered oligohydramnios"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12215"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oligohydramnios"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_12217 obo:IAO_0000115 "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities."^^xsd:string ; oboInOwl:hasDbXref "GARD:3243"^^xsd:string, "ICD10CM:G31.83"^^xsd:string, "ICD9CM:331.82"^^xsd:string, "MESH:D020961"^^xsd:string, "NCI:C84826"^^xsd:string, "OMIM:127750"^^xsd:string, "SNOMEDCT_US_2021_03_01:192808003"^^xsd:string, "UMLS_CUI:C0752347"^^xsd:string ; oboInOwl:hasExactSynonym "Dementia with Lewy bodies"@en, "Diffuse Lewy body disease"@en, "Lewy body disease"@en, "Senile dementia of the Lewy body type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12217"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Lewy body dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_1307 . obo:DOID_1222 obo:IAO_0000115 "A connective tissue disease that is located_in cartilage."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M94.9"^^xsd:string, "MESH:D002357"^^xsd:string, "SNOMEDCT_US_2021_03_01:50927007"^^xsd:string, "UMLS_CUI:C0007302"^^xsd:string ; oboInOwl:hasExactSynonym "Cartilage disorder"@en, "Chondropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1222"^^xsd:string ; a owl:Class ; rdfs:label "cartilage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002418 ] ) ] . obo:DOID_12221 oboInOwl:hasExactSynonym "Synovial, tendon or bursa disorder NOS (disorder)"@en, "Unspecified disorder of synovium, tendon, and bursa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12221"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Synovial, tendon or bursa disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12223 oboInOwl:hasDbXref "ICD9CM:727.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:42812006"^^xsd:string, "UMLS_CUI:C0158332"^^xsd:string ; oboInOwl:hasExactSynonym "Specific bursitides often of occupational origin"@en, "Specific bursitis often of occupational origin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12223"^^xsd:string ; a owl:Class ; rdfs:label "specific bursitis often of occupational origin"^^xsd:string ; rdfs:subClassOf obo:DOID_2965 . obo:DOID_12224 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12224"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calcium deposits in tendon and bursa"^^xsd:string ; owl:deprecated true . obo:DOID_12225 oboInOwl:hasDbXref "ICD10CM:M67.5"^^xsd:string, "ICD9CM:727.83"^^xsd:string, "MESH:D013585"^^xsd:string, "UMLS_CUI:C0878705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12225"^^xsd:string ; a owl:Class ; rdfs:label "Plica syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_12226 oboInOwl:hasExactSynonym "Auditory dysfunction (disorder)"@en, "Hearing disorder"@en, "Hearing disorder (finding)"@en, "Hearing problem (finding)"@en, "disorder of auditory system (disorder)"@en, "hearing disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12226"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hearing disease"^^xsd:string ; owl:deprecated true . obo:DOID_12228 oboInOwl:hasExactSynonym "secondary malignant neoplasm of large intestine and rectum (disorder)"@en, "secondary malignant neoplasm of large intestine or rectum NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of large intestine and rectum"^^xsd:string ; owl:deprecated true . obo:DOID_12234 oboInOwl:hasDbXref "ICD10CM:K31.2"^^xsd:string, "ICD9CM:537.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:54051005"^^xsd:string, "UMLS_CUI:C0267183"^^xsd:string ; oboInOwl:hasExactSynonym "Hourglass stricture or stenosis of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12234"^^xsd:string ; a owl:Class ; rdfs:label "cascade stomach"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12236 obo:IAO_0000115 "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1851"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004267"^^xsd:string, "GARD:7459"^^xsd:string, "ICD10CM:K74.3"^^xsd:string, "ICD10CM:K74.5"^^xsd:string, "ICD9CM:571.6"^^xsd:string, "MESH:D008105"^^xsd:string, "NCI:C27167"^^xsd:string, "NCI:C51225"^^xsd:string, "OMIM:109720"^^xsd:string, "OMIM:613007"^^xsd:string, "OMIM:613008"^^xsd:string, "OMIM:614220"^^xsd:string, "OMIM:614221"^^xsd:string, "ORDO:186"^^xsd:string, "SNOMEDCT_US_2021_03_01:1761006"^^xsd:string, "SNOMEDCT_US_2021_03_01:31712002"^^xsd:string, "UMLS_CUI:C0008312"^^xsd:string, "UMLS_CUI:C0023892"^^xsd:string ; oboInOwl:hasExactSynonym "biliary liver cirrhosis"@en, "cholestatic cirrhosis"@en, "chronic nonsuppurative destructive cholangitis"@en, "primary biliary cirrhosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12236"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary biliary cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, obo:DOID_5082, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_12237 oboInOwl:hasDbXref "MESH:D001655"^^xsd:string, "UMLS_CUI:C0005403"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12237"^^xsd:string ; a owl:Class ; rdfs:label "bile reflux"^^xsd:string ; rdfs:subClassOf obo:DOID_9741 . obo:DOID_12239 oboInOwl:hasDbXref "ICD10CM:C44.520"^^xsd:string, "NCI:C6925"^^xsd:string, "SNOMEDCT_US_2021_03_01:255084004"^^xsd:string, "UMLS_CUI:C1412037"^^xsd:string ; oboInOwl:hasExactSynonym "Perianal skin squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal margin squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4284, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_12241 obo:IAO_0000115 "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin."^^xsd:string ; oboInOwl:hasDbXref "GARD:871"^^xsd:string, "ICD10CM:D56.1"^^xsd:string, "ICD9CM:282.44"^^xsd:string, "MESH:D017086"^^xsd:string, "NCI:C34375"^^xsd:string, "OMIM:613985"^^xsd:string, "ORDO:848"^^xsd:string, "SNOMEDCT_US_2021_03_01:65959000"^^xsd:string, "UMLS_CUI:C0005283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12241"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "beta thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10241 ; skos:narrowMatch "MESH:D017086"^^xsd:string . obo:DOID_12245 obo:IAO_0000115 "A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum endocarditis"@en, "Histoplasma capsulatum with endocarditis (disorder)"@en, "Histoplasmosis with endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete histoplasmosis endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_12246 oboInOwl:hasDbXref "ICD9CM:115.91"^^xsd:string, "SNOMEDCT_US_2021_03_01:187057005"^^xsd:string, "UMLS_CUI:C0153277"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12246"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11608 . obo:DOID_12251 oboInOwl:hasExactSynonym "Aldosterone deficiency (disorder)"@en, "hypoaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12251"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypoaldosteronism"^^xsd:string ; owl:deprecated true . obo:DOID_12252 obo:IAO_0000115 "An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cushing's syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12253 oboInOwl:hasDbXref "NCI:C6810"^^xsd:string, "SNOMEDCT_US_2021_03_01:277664004"^^xsd:string, "UMLS_CUI:C0349644"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoma of the testis"@en, "malignant lymphoma of testis"@en, "testicular Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_2998, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_12254 oboInOwl:hasExactSynonym "metastatic neoplasm to the testis"@en, "secondary malignant neoplasm of testis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12254"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the testis"^^xsd:string ; owl:deprecated true . obo:DOID_12255 oboInOwl:hasExactSynonym "Congenital Adrenal hyperplasia"@en, "Congenital adrenal hyperplasia (disorder)"@en, "Congenital adrenal hyperplasia, NOS"@en, "congenital adrenal hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_12256 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenogenital disease"^^xsd:string ; owl:deprecated true . obo:DOID_12257 oboInOwl:hasDbXref "ICD10CM:E27.5"^^xsd:string, "ICD9CM:255.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:111565003"^^xsd:string, "UMLS_CUI:C0154206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12257"^^xsd:string ; a owl:Class ; rdfs:label "medulloadrenal hyperfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_9553 . obo:DOID_12258 oboInOwl:hasExactSynonym "acquired factor IX deficiency disease (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12258"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired factor IX deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12259 obo:IAO_0000115 "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."^^xsd:string ; oboInOwl:hasDbXref "GARD:8732"^^xsd:string, "ICD10CM:D67"^^xsd:string, "ICD9CM:286.1"^^xsd:string, "MESH:D002836"^^xsd:string, "NCI:C26721"^^xsd:string, "OMIM:306900"^^xsd:string, "SNOMEDCT_US_2021_03_01:41788008"^^xsd:string, "UMLS_CUI:C0008533"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital factor IX deficiency"@en, "Congenital factor IX disorder"@en, "deficiency, functional factor IX"@en, "factor IX deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hemophilia B"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_12265 oboInOwl:hasDbXref "ICD10CM:N70.1"^^xsd:string, "ICD9CM:614.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:198142001"^^xsd:string, "UMLS_CUI:C0156328"^^xsd:string ; oboInOwl:hasExactSynonym "chronic salpingitis and oophoritis"@en, "chronic salpingitis/oophoritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12265"^^xsd:string ; a owl:Class ; rdfs:label "chronic salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10972 . obo:DOID_12268 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eclampsia with delivery"^^xsd:string ; owl:deprecated true . obo:DOID_12269 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12269"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_1227 oboInOwl:hasDbXref "ICD10CM:D70"^^xsd:string, "ICD9CM:288.0"^^xsd:string, "MESH:D009503"^^xsd:string, "SNOMEDCT_US_2021_03_01:191336001"^^xsd:string, "UMLS_CUI:C0027947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1227"^^xsd:string ; a owl:Class ; rdfs:label "neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_12987 . obo:DOID_12270 obo:IAO_0000115 "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc."^^xsd:string ; oboInOwl:hasDbXref "GARD:1433"^^xsd:string, "ICD10CM:Q13.0"^^xsd:string, "MESH:D003103"^^xsd:string, "NCI:C98877"^^xsd:string, "OMIM:120200"^^xsd:string, "OMIM:120300"^^xsd:string, "OMIM:216820"^^xsd:string, "ORDO:194"^^xsd:string, "ORDO:98945"^^xsd:string, "SNOMEDCT_US_2021_03_01:93390002"^^xsd:string, "UMLS_CUI:C0009363"^^xsd:string ; oboInOwl:hasExactSynonym "coloboma of eye"@en, "coloboma of macula"@en, "congenital ocular coloboma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "coloboma"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_12271 obo:IAO_0000115 "An iris disease that is characterized by a complete or partial absence of the colored part of the eye."^^xsd:string ; oboInOwl:hasDbXref "GARD:5816"^^xsd:string, "ICD10CM:Q13.1"^^xsd:string, "ICD9CM:743.45"^^xsd:string, "MESH:D015783"^^xsd:string, "NCI:C84563"^^xsd:string, "OMIM:106210"^^xsd:string, "SNOMEDCT_US_2021_03_01:69278003"^^xsd:string, "UMLS_CUI:C0003076"^^xsd:string ; oboInOwl:hasExactSynonym "Aplasia of iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aniridia"^^xsd:string ; rdfs:subClassOf obo:DOID_240 . obo:DOID_12273 oboInOwl:hasDbXref "ICD10CM:H52.31"^^xsd:string, "ICD9CM:367.31"^^xsd:string, "MESH:D015858"^^xsd:string, "SNOMEDCT_US_2021_03_01:3289004"^^xsd:string, "UMLS_CUI:C0003081"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12273"^^xsd:string ; a owl:Class ; rdfs:label "anisometropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 ; skos:exactMatch "MESH:D015858"^^xsd:string . obo:DOID_12274 oboInOwl:hasExactSynonym "Anisometropia and aniseikonia (disorder)"@en, "Anisometropia or aniseikonia NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anisometropia and aniseikonia"^^xsd:string ; owl:deprecated true . obo:DOID_12275 obo:IAO_0000115 "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A36.3"^^xsd:string, "ICD9CM:032.85"^^xsd:string, "NCI:C34544"^^xsd:string, "SNOMEDCT_US_2021_03_01:18901009"^^xsd:string, "UMLS_CUI:C0012555"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Diphtheria"@en, "Cutaneous diphtheria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous diphtheria"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 . obo:DOID_12276 oboInOwl:hasDbXref "ICD10CM:C62.0"^^xsd:string, "ICD9CM:186.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:188219004"^^xsd:string, "UMLS_CUI:C0153595"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of retained testis"@en, "malignant neoplasm of undescended testis"@en, "malignant tumor of retained testis"@en, "malignant tumour of retained testis"@en, "malignant tumour of undescended testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12276"^^xsd:string ; a owl:Class ; rdfs:label "malignant tumor of undescended testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_1228 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid type schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12282 oboInOwl:hasDbXref "ICD10CM:I80.1"^^xsd:string, "ICD9CM:451.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:195410000"^^xsd:string, "UMLS_CUI:C0265066"^^xsd:string ; oboInOwl:hasExactSynonym "Phlebitis and thrombophlebitis of femoral vein"@en, "Thrombophlebitis of deep femoral vein"@en, "Thrombophlebitis of the femoral vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12282"^^xsd:string ; a owl:Class ; rdfs:label "femoral vein thrombophlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3875, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3875 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001361 ] ) ] . obo:DOID_12284 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete maternal pyrexia in labor"^^xsd:string ; owl:deprecated true . obo:DOID_12286 oboInOwl:hasDbXref "NCI:C9277"^^xsd:string, "UMLS_CUI:C1336711"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12286"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_12287 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A98.0"^^xsd:string, "ICD9CM:065.0"^^xsd:string, "MESH:D006479"^^xsd:string, "NCI:C34682"^^xsd:string, "SNOMEDCT_US_2021_03_01:43489008"^^xsd:string, "UMLS_CUI:C0019099"^^xsd:string ; oboInOwl:hasExactSynonym "CHF Congo virus"@en, "Congo-Crimean Hemorrhagic Fever"@en, "Crimean hemorrhagic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Crimean-Congo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1980519 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34625 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000760 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_1229 obo:IAO_0000115 "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11238"^^xsd:string, "DOID:1230"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F20.0"^^xsd:string, "ICD9CM:295.3"^^xsd:string, "ICD9CM:295.32"^^xsd:string, "MESH:D012563"^^xsd:string, "NCI:C35006"^^xsd:string, "SNOMEDCT_US_2021_03_01:154865007"^^xsd:string, "SNOMEDCT_US_2021_03_01:191553009"^^xsd:string, "UMLS_CUI:C0036349"^^xsd:string, "UMLS_CUI:C0270398"^^xsd:string ; oboInOwl:hasExactSynonym "Paranoid type schizophrenia"@en, "Paraphrenia - late"@en, "Paraphrenic schizophrenia"@en, "chronic paranoid schizophrenia"@en, "paranoid type schizophrenia subchronic state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1229"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranoid schizophrenia"^^xsd:string ; rdfs:subClassOf obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_12292 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12292"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant endocervical neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_12294 obo:IAO_0000115 "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F32.89"^^xsd:string, "ICD9CM:296.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:277538003"^^xsd:string, "UMLS_CUI:C0154437"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12294"^^xsd:string ; a owl:Class ; rdfs:label "atypical depressive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3324, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000582 ] . obo:DOID_12297 obo:IAO_0000115 "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7862"^^xsd:string, "ICD10CM:H20.82"^^xsd:string, "ICD9CM:364.24"^^xsd:string, "MESH:D014607"^^xsd:string, "NCI:C85218"^^xsd:string, "SNOMEDCT_US_2021_03_01:44923005"^^xsd:string, "UMLS_CUI:C0042170"^^xsd:string ; oboInOwl:hasExactSynonym "Harada's disease"@en, "Vogt-Koyanagi syndrome"@en, "uveomeningoencephalitic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vogt-Koyanagi-Harada disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_12298 oboInOwl:hasDbXref "ICD9CM:155.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:187777008"^^xsd:string, "UMLS_CUI:C0546835"^^xsd:string ; oboInOwl:hasExactSynonym "Ca intrahepatic bile ducts"@en, "malignant neoplasm of intrahepatic bile ducts"@en, "malignant neoplasm of intrahepatic biliary passages"@en, "malignant neoplasm of intrahepatic gall duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12298"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic gall duct cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3121 . obo:DOID_12301 oboInOwl:hasExactSynonym "Naevus spilus"@en, "Speckled lentiginous naevus"@en, "nevus spilus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete speckled lentiginous nevus"^^xsd:string ; owl:deprecated true . obo:DOID_12302 obo:IAO_0000115 "A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils."^^xsd:string ; oboInOwl:hasExactSynonym "Faucial Diphtheria"@en, "Faucial diphtheria"@en, "Faucial diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12302"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete diphtheritic membranous angina"^^xsd:string ; owl:deprecated true . obo:DOID_12304 oboInOwl:hasDbXref "ICD10CM:H11.13"^^xsd:string, "ICD9CM:372.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:267645009"^^xsd:string, "UMLS_CUI:C0155163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12304"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12305 oboInOwl:hasDbXref "ICD10CM:Q82.3"^^xsd:string, "MESH:D007184"^^xsd:string, "NCI:C84787"^^xsd:string, "OMIM:308300"^^xsd:string, "SNOMEDCT_US_2021_03_01:205567005"^^xsd:string, "UMLS_CUI:C0021171"^^xsd:string ; oboInOwl:hasExactSynonym "Incontinentia pigmenti"@en, "Incontinentia pigmenti syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bloch-Sulzberger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12306 obo:IAO_0000115 "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004208"^^xsd:string, "GARD:10751"^^xsd:string, "ICD10CM:L80"^^xsd:string, "ICD9CM:709.01"^^xsd:string, "MESH:D014820"^^xsd:string, "NCI:C26915"^^xsd:string, "OMIM:193200"^^xsd:string, "SNOMEDCT_US_2021_03_01:156437000"^^xsd:string, "UMLS_CUI:C0042900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12306"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "vitiligo"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_12307 oboInOwl:hasDbXref "ICD10CM:H18.01"^^xsd:string, "ICD9CM:371.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:18377001"^^xsd:string, "UMLS_CUI:C0155104"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior corneal pigmentations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12307"^^xsd:string ; a owl:Class ; rdfs:label "anterior corneal pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_11547 . obo:DOID_12308 obo:IAO_0000115 "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile."^^xsd:string ; oboInOwl:hasDbXref "GARD:6289"^^xsd:string, "ICD10CM:E80.6"^^xsd:string, "MESH:D007566"^^xsd:string, "NCI:C34741"^^xsd:string, "OMIM:237500"^^xsd:string, "SNOMEDCT_US_2021_03_01:44553005"^^xsd:string, "UMLS_CUI:C0022350"^^xsd:string ; oboInOwl:hasExactSynonym "Dubin Johnson syndrome"@en, "chronic idiopathic jaundice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12308"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Dubin-Johnson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2741 . obo:DOID_12309 oboInOwl:hasDbXref "ICD10CM:D47.01"^^xsd:string, "MESH:D014582"^^xsd:string, "NCI:C3433"^^xsd:string, "SNOMEDCT_US_2021_03_01:205566001"^^xsd:string, "UMLS_CUI:C0042111"^^xsd:string ; oboInOwl:hasExactSynonym "UP/MPCM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12309"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "urticaria pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_3663 ; skos:exactMatch "MESH:D014582"^^xsd:string . obo:DOID_1231 oboInOwl:hasExactSynonym "chronic Schizophrenia"@en, "chronic schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_12311 oboInOwl:hasDbXref "ICD10CM:H18.06"^^xsd:string, "ICD9CM:371.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:55031000"^^xsd:string, "UMLS_CUI:C0155105"^^xsd:string ; oboInOwl:hasExactSynonym "Stromal corneal pigmentations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12311"^^xsd:string ; a owl:Class ; rdfs:label "stromal corneal pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12318 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.53"^^xsd:string, "ICD9CM:371.53"^^xsd:string, "MESH:D003317"^^xsd:string, "NCI:C34651"^^xsd:string, "SNOMEDCT_US_2021_03_01:45283008"^^xsd:string, "UMLS_CUI:C0018179"^^xsd:string ; oboInOwl:hasExactSynonym "granular corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12318"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granular corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060441, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1232 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12323 obo:IAO_0000115 "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J45.991"^^xsd:string, "ICD9CM:493.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:409663006"^^xsd:string, "UMLS_CUI:C0694548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12323"^^xsd:string ; a owl:Class ; rdfs:label "cough variant asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_12324 oboInOwl:hasExactSynonym "Trans-sexualism with homosexual history"@en, "Transsexuality with homosexual history (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexuality with homosexual history"^^xsd:string ; owl:deprecated true . obo:DOID_12325 oboInOwl:hasDbXref "ICD10CM:I27.1"^^xsd:string, "ICD9CM:416.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:194886003"^^xsd:string, "UMLS_CUI:C0152102"^^xsd:string ; oboInOwl:hasExactSynonym "Kyphoscoliotic heart disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12325"^^xsd:string ; a owl:Class ; rdfs:label "kyphoscoliotic heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_12326 . obo:DOID_12326 oboInOwl:hasDbXref "ICD9CM:416.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:194887007"^^xsd:string, "UMLS_CUI:C0155673"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12326"^^xsd:string ; a owl:Class ; rdfs:label "chronic pulmonary heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8515 . obo:DOID_12328 obo:IAO_0000115 "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E41"^^xsd:string, "ICD9CM:261"^^xsd:string, "MESH:D011502"^^xsd:string, "SNOMEDCT_US_2021_03_01:154730001"^^xsd:string, "UMLS_CUI:C0086588"^^xsd:string ; oboInOwl:hasExactSynonym "Nutritional atrophy"@en, "Nutritional marasmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12328"^^xsd:string ; a owl:Class ; rdfs:label "marasmus"^^xsd:string ; rdfs:subClassOf obo:DOID_11801, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_1233 oboInOwl:hasDbXref "ICD10CM:F64.1"^^xsd:string, "ICD9CM:302.3"^^xsd:string, "MESH:D014190"^^xsd:string, "NCI:C94359"^^xsd:string, "SNOMEDCT_US_2021_03_01:472948001"^^xsd:string, "UMLS_CUI:C0040774"^^xsd:string ; oboInOwl:hasExactSynonym "Dual-role transvestism"@en, "Fetishistic transvestism"@en, "Transvestic fetishism"@en, "cross dresser"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1233"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transvestism"^^xsd:string ; rdfs:subClassOf obo:DOID_1235 . obo:DOID_12332 oboInOwl:hasDbXref "MESH:D006398"^^xsd:string, "SNOMEDCT_US_2021_03_01:66259004"^^xsd:string, "UMLS_CUI:C0018931"^^xsd:string ; oboInOwl:hasExactSynonym "Hematocele"@en, "male hematocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12332"^^xsd:string ; a owl:Class ; rdfs:label "hematocele of tunica vaginalis testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_12333 oboInOwl:hasDbXref "ICD9CM:608.85"^^xsd:string, "SNOMEDCT_US_2021_03_01:198064007"^^xsd:string, "UMLS_CUI:C0156316"^^xsd:string ; oboInOwl:hasExactSynonym "Stricture of male genital organs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12333"^^xsd:string ; a owl:Class ; rdfs:label "male genital organ stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12335 oboInOwl:hasDbXref "ICD10CM:N50.1"^^xsd:string, "ICD9CM:608.83"^^xsd:string, "SNOMEDCT_US_2021_03_01:198057005"^^xsd:string, "UMLS_CUI:C0042374"^^xsd:string ; oboInOwl:hasExactSynonym "vascular disorder of male genital organs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12335"^^xsd:string ; a owl:Class ; rdfs:label "male genital organ vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12336 oboInOwl:hasDbXref "ICD10CM:N46"^^xsd:string, "ICD9CM:606"^^xsd:string, "MESH:D007248"^^xsd:string, "SNOMEDCT_US_2021_03_01:155924001"^^xsd:string, "UMLS_CUI:C0021364"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12336"^^xsd:string ; a owl:Class ; rdfs:label "male infertility"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12337 oboInOwl:hasDbXref "ICD10CM:I86.1"^^xsd:string, "ICD9CM:456.4"^^xsd:string, "MESH:D014646"^^xsd:string, "SNOMEDCT_US_2021_03_01:195480007"^^xsd:string, "UMLS_CUI:C0042341"^^xsd:string ; oboInOwl:hasExactSynonym "Scrotal varices"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12337"^^xsd:string ; a owl:Class ; rdfs:label "varicocele"^^xsd:string ; rdfs:subClassOf obo:DOID_9742, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005352 ] . obo:DOID_12338 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete redundant prepuce and phimosis"^^xsd:string ; owl:deprecated true . obo:DOID_12339 oboInOwl:hasDbXref "NCI:C7353"^^xsd:string, "UMLS_CUI:C1335779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1234 obo:IAO_0000115 "A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F64.2"^^xsd:string, "ICD9CM:302.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:5095008"^^xsd:string, "UMLS_CUI:C0236802"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1234"^^xsd:string ; a owl:Class ; rdfs:label "gender identity disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_12341 obo:IAO_0000115 "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4832"^^xsd:string, "SNOMEDCT_US_2021_03_01:307219002"^^xsd:string, "UMLS_CUI:C0585129"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12341"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5875 . obo:DOID_12342 oboInOwl:hasDbXref "NCI:C7352"^^xsd:string, "UMLS_CUI:C0948749"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of Retroperitoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of the retroperitoneum"@en ; oboInOwl:id "DOID:12342"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneum carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5875, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_12346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hyperkinetic heart disease"@en ; oboInOwl:id "DOID:12346"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperkinetic heart syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12347 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14708"^^xsd:string ; oboInOwl:hasDbXref "GARD:1017"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "ICD9CM:756.51"^^xsd:string, "MESH:D010013"^^xsd:string, "NCI:C26837"^^xsd:string, "OMIM:PS166200"^^xsd:string, "ORDO:666"^^xsd:string, "SNOMEDCT_US_2021_03_01:254109004"^^xsd:string, "UMLS_CUI:C0029434"^^xsd:string ; oboInOwl:hasExactSynonym "Lobstein's syndrome"@en, "Osteopsathyrosis"@en, "Vrolik's disease"@en, "brittle bone disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Fragilitas ossium"@en ; oboInOwl:id "DOID:12347"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "osteogenesis imperfecta"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_12349 oboInOwl:hasDbXref "ICD10CM:H44.44"^^xsd:string, "ICD9CM:360.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:2251002"^^xsd:string, "UMLS_CUI:C0154782"^^xsd:string ; oboInOwl:hasExactSynonym "primary hypotony of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12349"^^xsd:string ; a owl:Class ; rdfs:label "primary eye hypotony"^^xsd:string ; rdfs:subClassOf obo:DOID_790 . obo:DOID_1235 oboInOwl:hasDbXref "ICD10CM:F65.0"^^xsd:string, "ICD9CM:302.81"^^xsd:string, "MESH:D005329"^^xsd:string, "NCI:C94353"^^xsd:string, "SNOMEDCT_US_2021_03_01:192513009"^^xsd:string, "UMLS_CUI:C0015957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetishism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_12351 oboInOwl:hasAlternativeId "DOID:12350"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:571.1"^^xsd:string, "NCI:C34352"^^xsd:string, "SNOMEDCT_US_2021_03_01:9953008"^^xsd:string, "UMLS_CUI:C0001306"^^xsd:string ; oboInOwl:hasExactSynonym "Alcoholic Hepatitis"@en, "Alcoholic hepatitis"@en, "acute Alcoholic Hepatitis"@en, "acute alcoholic hepatitis"@en, "acute alcoholic liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2237, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_12355 oboInOwl:hasDbXref "ICD10CM:N41.3"^^xsd:string, "ICD9CM:601.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:67685000"^^xsd:string, "UMLS_CUI:C0156291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12355"^^xsd:string ; a owl:Class ; rdfs:label "prostatocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_12356 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12356"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bacterial prostatitis"^^xsd:string ; owl:deprecated true . obo:DOID_12357 obo:IAO_0000115 "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:34243007"^^xsd:string, "UMLS_CUI:C0155508"^^xsd:string ; oboInOwl:hasExactSynonym "Epidemic vertigo"@en, "Viral labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12357"^^xsd:string ; a owl:Class ; rdfs:label "viral labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12358 obo:IAO_0000115 "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:10812"^^xsd:string, "ICD10CM:H69.0"^^xsd:string, "ICD9CM:381.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:30280005"^^xsd:string, "UMLS_CUI:C0155434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12358"^^xsd:string ; a owl:Class ; rdfs:label "patulous eustachian tube"^^xsd:string ; rdfs:subClassOf obo:DOID_9739 . obo:DOID_12359 oboInOwl:hasDbXref "ICD9CM:376.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:53061005"^^xsd:string, "UMLS_CUI:C0155264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12359"^^xsd:string ; a owl:Class ; rdfs:label "endocrine exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12360 oboInOwl:hasDbXref "ICD10CM:H05.21"^^xsd:string, "ICD9CM:376.36"^^xsd:string, "SNOMEDCT_US_2021_03_01:48747004"^^xsd:string, "UMLS_CUI:C0155272"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral displacement of globe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12360"^^xsd:string ; a owl:Class ; rdfs:label "lateral displacement of eye"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12361 obo:IAO_0000115 "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004237"^^xsd:string, "ICD10CM:E05.0"^^xsd:string, "MESH:D006111"^^xsd:string, "NCI:C3071"^^xsd:string, "SNOMEDCT_US_2021_03_01:154655004"^^xsd:string, "UMLS_CUI:C0018213"^^xsd:string ; oboInOwl:hasExactSynonym "Grave's disease"@en, "Graves disease"@en, "exophthalmic goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Basedow's disease"@en ; oboInOwl:id "DOID:12361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Graves' disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_12362 oboInOwl:hasDbXref "ICD9CM:376.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:19885005"^^xsd:string, "UMLS_CUI:C0155265"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12362"^^xsd:string ; a owl:Class ; rdfs:label "thyrotoxic exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_12359 . obo:DOID_12363 oboInOwl:hasDbXref "ICD10CM:H05.25"^^xsd:string, "ICD9CM:376.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:49774006"^^xsd:string, "UMLS_CUI:C0155270"^^xsd:string ; oboInOwl:hasExactSynonym "Intermittent exophthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12363"^^xsd:string ; a owl:Class ; rdfs:label "intermittent proptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12364 oboInOwl:hasDbXref "ICD10CM:H05.26"^^xsd:string, "ICD9CM:376.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:2284002"^^xsd:string, "UMLS_CUI:C0155271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12364"^^xsd:string ; a owl:Class ; rdfs:label "pulsating exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12365 obo:IAO_0000115 "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12552"^^xsd:string ; oboInOwl:hasDbXref "EFO:0001068"^^xsd:string, "GARD:6961"^^xsd:string, "ICD10CM:B54"^^xsd:string, "ICD9CM:084"^^xsd:string, "MESH:D008288"^^xsd:string, "NCI:C34797"^^xsd:string, "SNOMEDCT_US_2021_03_01:154374002"^^xsd:string, "UMLS_CUI:C0024530"^^xsd:string ; oboInOwl:hasExactSynonym "induced malaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12365"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2789 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5820 ] ) ] . obo:DOID_12369 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.0"^^xsd:string, "ICD9CM:618.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:12068006"^^xsd:string, "UMLS_CUI:C0238502"^^xsd:string ; oboInOwl:hasExactSynonym "Urethrocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12369"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prolapse of urethra"^^xsd:string ; rdfs:subClassOf obo:DOID_1284, obo:DOID_732, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_1237 oboInOwl:hasDbXref "ICD10CM:H18.4"^^xsd:string, "ICD9CM:371.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:111521006"^^xsd:string, "UMLS_CUI:C0155118"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1237"^^xsd:string ; a owl:Class ; rdfs:label "corneal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_10124, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_12375 obo:IAO_0000115 "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J18.0"^^xsd:string, "ICD9CM:485"^^xsd:string, "MESH:D001996"^^xsd:string, "NCI:C26710"^^xsd:string, "SNOMEDCT_US_2021_03_01:155551009"^^xsd:string, "UMLS_CUI:C0006285"^^xsd:string ; oboInOwl:hasExactSynonym "Chest infection - bronchopneumonia"@en, "bronchial pneumonia"@en, "lobular pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12375"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchopneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_12376 obo:IAO_0000115 "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13161"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:335.11"^^xsd:string, "MESH:D014897"^^xsd:string, "NCI:C118847"^^xsd:string, "OMIM:253400"^^xsd:string, "SNOMEDCT_US_2021_03_01:54280009"^^xsd:string, "UMLS_CUI:C0152109"^^xsd:string ; oboInOwl:hasExactSynonym "Kugelberg-Welander disease"@en, "SMA3"@en, "Spinal Muscular Atrophy Type 3"^^xsd:string, "Type III Spinal Muscular Atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "juvenile spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_12377 obo:IAO_0000115 "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy."^^xsd:string ; oboInOwl:hasDbXref "GARD:7674"^^xsd:string, "ICD10CM:G12.9"^^xsd:string, "ICD9CM:335.1"^^xsd:string, "MESH:D009134"^^xsd:string, "NCI:C85075"^^xsd:string, "SNOMEDCT_US_2021_03_01:5262007"^^xsd:string, "UMLS_CUI:C0026847"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12377"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_231, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_12378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12378"^^xsd:string ; a owl:Class ; rdfs:label "obsolete predominant psychomotor disturbance"^^xsd:string ; owl:deprecated true . obo:DOID_12379 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12379"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed disorder as reaction to stress"^^xsd:string ; owl:deprecated true . obo:DOID_1238 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute erythremia and erythroleukemia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12380 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12380"^^xsd:string ; a owl:Class ; rdfs:label "obsolete predominant disturbance of consciousness"^^xsd:string ; owl:deprecated true . obo:DOID_12382 oboInOwl:hasDbXref "MESH:D017029"^^xsd:string, "SNOMEDCT_US_2021_03_01:307358009"^^xsd:string, "UMLS_CUI:C0085417"^^xsd:string ; oboInOwl:hasExactSynonym "Complex partial epileptic seizure"@en, "Psychomotor epilepsy"@en, "epilepsy, psychomotor"@en, "psychomotor epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12382"^^xsd:string ; a owl:Class ; rdfs:label "complex partial epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 . obo:DOID_12384 obo:IAO_0000115 "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:009.2"^^xsd:string, "MESH:D004403"^^xsd:string, "SNOMEDCT_US_2021_03_01:154268000"^^xsd:string, "UMLS_CUI:C0013369"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12384"^^xsd:string ; a owl:Class ; rdfs:label "dysentery"^^xsd:string ; rdfs:subClassOf obo:DOID_100, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_12385 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11378"^^xsd:string, "DOID:12950"^^xsd:string, "DOID:2041"^^xsd:string, "DOID:924"^^xsd:string, "DOID:925"^^xsd:string ; oboInOwl:hasDbXref "GARD:4818"^^xsd:string, "ICD10CM:A03"^^xsd:string, "ICD10CM:A03.0"^^xsd:string, "ICD10CM:A03.1"^^xsd:string, "ICD10CM:A03.2"^^xsd:string, "ICD9CM:004"^^xsd:string, "ICD9CM:004.0"^^xsd:string, "ICD9CM:004.1"^^xsd:string, "ICD9CM:004.2"^^xsd:string, "KEGG:05131"^^xsd:string, "MESH:D004405"^^xsd:string, "NCI:C157978"^^xsd:string, "SNOMEDCT_US_2021_03_01:111817006"^^xsd:string, "SNOMEDCT_US_2021_03_01:34335000"^^xsd:string, "SNOMEDCT_US_2021_03_01:55760004"^^xsd:string, "SNOMEDCT_US_2021_03_01:66301008"^^xsd:string, "UMLS_CUI:C0013371"^^xsd:string, "UMLS_CUI:C0302358"^^xsd:string, "UMLS_CUI:C0302359"^^xsd:string, "UMLS_CUI:C0302360"^^xsd:string ; oboInOwl:hasExactSynonym "Shigella boydii infectious disease"@en, "Shigella flexneri infectious disease"@en, "Shigella gastroenteritis"@en, "Shigella sonnei infectious disease"@en, "bacillary dysentery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12385"^^xsd:string ; a owl:Class ; rdfs:label "shigellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_104 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_12386 obo:IAO_0000115 "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath."^^xsd:string ; oboInOwl:hasDbXref "GARD:809"^^xsd:string, "ICD10CM:A07.0"^^xsd:string, "ICD9CM:007.0"^^xsd:string, "MESH:D001447"^^xsd:string, "NCI:C84583"^^xsd:string, "SNOMEDCT_US_2021_03_01:57725006"^^xsd:string, "UMLS_CUI:C0004692"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12386"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balantidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D001447"^^xsd:string . obo:DOID_12387 obo:IAO_0000115 "A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)."^^xsd:string ; oboInOwl:hasDbXref "GARD:7178"^^xsd:string, "ICD10CM:N25.1"^^xsd:string, "ICD9CM:588.1"^^xsd:string, "MESH:D018500"^^xsd:string, "NCI:C84919"^^xsd:string, "OMIM:125800"^^xsd:string, "OMIM:304800"^^xsd:string, "ORDO:223"^^xsd:string, "SNOMEDCT_US_2021_03_01:123294004"^^xsd:string, "UMLS_CUI:C0162283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "vasopressin-resistant diabetes insipidus"@en ; oboInOwl:id "DOID:12387"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "nephrogenic diabetes insipidus"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12388 oboInOwl:hasDbXref "MESH:D020790"^^xsd:string, "NCI:C84933"^^xsd:string, "OMIM:125700"^^xsd:string, "OMIM:304900"^^xsd:string, "SNOMEDCT_US_2021_03_01:267393007"^^xsd:string, "UMLS_CUI:C0687720"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary diabetes insipidus"@en, "Vasopressin deficiency"@en, "central diabetes insipidus"@en, "vasopressin defective diabetes insipidus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "neurohypophyseal diabetes insipidus"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_1239 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute erythremia and erythroleukemia"^^xsd:string ; owl:deprecated true . obo:DOID_12392 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck"@en, "Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)"@en, "Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12392"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck"^^xsd:string ; owl:deprecated true . obo:DOID_12395 oboInOwl:hasDbXref "ICD9CM:374.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:20828000"^^xsd:string, "UMLS_CUI:C0155190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12395"^^xsd:string ; a owl:Class ; rdfs:label "spastic entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_12396 oboInOwl:hasExactSynonym "Entropion and trichiasis of eyelid (disorder)"@en, "Entropion or trichiasis of eyelid NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12396"^^xsd:string ; a owl:Class ; rdfs:label "obsolete entropion and trichiasis of eyelid"^^xsd:string ; owl:deprecated true . obo:DOID_12397 oboInOwl:hasAlternativeId "DOID:14446"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:374.00"^^xsd:string, "MESH:D004774"^^xsd:string, "SNOMEDCT_US_2021_03_01:246821008"^^xsd:string, "UMLS_CUI:C0014390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12397"^^xsd:string ; a owl:Class ; rdfs:label "entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_12399 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.0"^^xsd:string, "ICD9CM:312.31"^^xsd:string, "MESH:D005715"^^xsd:string, "NCI:C94335"^^xsd:string, "OMIM:606349"^^xsd:string, "SNOMEDCT_US_2021_03_01:18085000"^^xsd:string, "UMLS_CUI:C0030662"^^xsd:string ; oboInOwl:hasExactSynonym "Compulsive gambling"@en, "Pathological gambling"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12399"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pathological gambling"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_1240 obo:IAO_0000115 "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9145"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C95.90"^^xsd:string, "ICD9CM:208"^^xsd:string, "ICDO:9800/3"^^xsd:string, "MESH:D007938"^^xsd:string, "NCI:C3161"^^xsd:string, "SNOMEDCT_US_2021_03_01:255049003"^^xsd:string, "UMLS_CUI:C0023418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1240"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2531 . obo:DOID_12400 obo:IAO_0000115 "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.2"^^xsd:string, "ICD9CM:312.32"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C94333"^^xsd:string, "SNOMEDCT_US_2021_03_01:69361009"^^xsd:string, "UMLS_CUI:C0022734"^^xsd:string ; oboInOwl:hasExactSynonym "Pathological stealing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kleptomania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12401 obo:IAO_0000115 "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9404"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.3"^^xsd:string, "ICD10CM:F63.81"^^xsd:string, "ICD9CM:301.3"^^xsd:string, "ICD9CM:312.34"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C94332"^^xsd:string, "SNOMEDCT_US_2021_03_01:192096007"^^xsd:string, "SNOMEDCT_US_2021_03_01:268757006"^^xsd:string, "UMLS_CUI:C0021776"^^xsd:string, "UMLS_CUI:C0152183"^^xsd:string ; oboInOwl:hasExactSynonym "explosive personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermittent explosive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12402 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.1"^^xsd:string, "ICD9CM:312.33"^^xsd:string, "MESH:D005391"^^xsd:string, "NCI:C94334"^^xsd:string, "SNOMEDCT_US_2021_03_01:600009"^^xsd:string, "UMLS_CUI:C0016142"^^xsd:string ; oboInOwl:hasExactSynonym "Pathological firesetting"@en, "firesetting behavior"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12402"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyromania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12403 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B35.3"^^xsd:string, "ICD9CM:110.4"^^xsd:string, "MESH:D014008"^^xsd:string, "SNOMEDCT_US_2021_03_01:186993002"^^xsd:string, "UMLS_CUI:C0040259"^^xsd:string ; oboInOwl:hasExactSynonym "Athlete's foot"@en, "Dermatophytosis of foot"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ringworm of foot"@en ; oboInOwl:id "DOID:12403"^^xsd:string ; a owl:Class ; rdfs:label "tinea pedis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_34390 obo:NCBITaxon_5550 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_12404 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis-tinea/ringworm"@en, "Microsporic tinea, NOS"@en, "ringworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12404"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tinea"^^xsd:string ; owl:deprecated true . obo:DOID_1241 oboInOwl:hasDbXref "ICD10CM:H44.82"^^xsd:string, "ICD9CM:360.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:20842008"^^xsd:string, "UMLS_CUI:C0154806"^^xsd:string ; oboInOwl:hasExactSynonym "Luxation of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1241"^^xsd:string ; a owl:Class ; rdfs:label "luxation of globe"^^xsd:string ; rdfs:subClassOf obo:DOID_1242 . obo:DOID_12417 oboInOwl:hasExactSynonym "Psychogenic dysmenorrhea"@en, "Psychogenic dysmenorrhea (finding)"@en, "Psychogenic dysmenorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12417"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychogenic dysmenorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_1242 obo:IAO_0000115 "An eye disease that involves the globe of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.39"^^xsd:string, "ICD9CM:360.29"^^xsd:string, "SNOMEDCT_US_2021_03_01:194638007"^^xsd:string, "UMLS_CUI:C0154780"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1242"^^xsd:string ; a owl:Class ; rdfs:label "globe disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_12424 oboInOwl:hasDbXref "ICD9CM:246.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:190303007"^^xsd:string, "UMLS_CUI:C0701822"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of thyrocalcitonin secretion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12424"^^xsd:string ; a owl:Class ; rdfs:label "thyrocalcitonin secretion disease"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_1243 obo:IAO_0000115 "A vulva cancer that is located_in the labium minora."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C51.1"^^xsd:string, "ICD9CM:184.2"^^xsd:string, "NCI:C7637"^^xsd:string, "SNOMEDCT_US_2021_03_01:93851005"^^xsd:string, "UMLS_CUI:C0496815"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of labia minora"@en, "malignant neoplasm of labium minus"@en, "malignant tumor of Labia Minora"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labia minora cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245, obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004014 ] ) ] . obo:DOID_12445 oboInOwl:hasDbXref "ICD9CM:378.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:1534008"^^xsd:string, "UMLS_CUI:C0702143"^^xsd:string ; oboInOwl:hasExactSynonym "Palsy of conjugate gaze"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12445"^^xsd:string ; a owl:Class ; rdfs:label "conjugate gaze palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12448 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12448"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hematologic pregnancy complication"^^xsd:string ; owl:deprecated true . obo:DOID_12449 obo:IAO_0000115 "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow."^^xsd:string ; oboInOwl:hasDbXref "GARD:5836"^^xsd:string, "ICD10CM:D61.9"^^xsd:string, "ICD9CM:284.9"^^xsd:string, "MESH:D000741"^^xsd:string, "NCI:C2870"^^xsd:string, "OMIM:609135"^^xsd:string, "SNOMEDCT_US_2021_03_01:154807001"^^xsd:string, "UMLS_CUI:C0002874"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aplastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_1245 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the vulva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1282"^^xsd:string ; oboInOwl:hasDbXref "GARD:9349"^^xsd:string, "ICD10CM:C51"^^xsd:string, "ICD9CM:184.4"^^xsd:string, "MESH:D014846"^^xsd:string, "NCI:C3443"^^xsd:string, "NCI:C7502"^^xsd:string, "SNOMEDCT_US_2021_03_01:126922007"^^xsd:string, "SNOMEDCT_US_2021_03_01:94143002"^^xsd:string, "UMLS_CUI:C0042995"^^xsd:string, "UMLS_CUI:C0375071"^^xsd:string ; oboInOwl:hasExactSynonym "Ca vulva"@en, "Vulvar tumor"@en, "malignant Vulvar tumor"@en, "malignant neoplasm of vulva"@en, "malignant tumor of vulva"@en, "neoplasm of vulva"@en, "vulval cancer"@en, "vulval neoplasm"@en, "vulvar neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1245"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "vulva cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_2059 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_12450 obo:IAO_0000115 "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D61.81"^^xsd:string, "ICD9CM:284.1"^^xsd:string, "MESH:D010198"^^xsd:string, "NCI:C34889"^^xsd:string, "SNOMEDCT_US_2021_03_01:127034005"^^xsd:string, "UMLS_CUI:C0030312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 ; skos:exactMatch "MESH:D010198"^^xsd:string . obo:DOID_12451 oboInOwl:hasDbXref "MESH:D013436"^^xsd:string, "SNOMEDCT_US_2021_03_01:32117000"^^xsd:string, "UMLS_CUI:C0038732"^^xsd:string ; oboInOwl:hasExactSynonym "Sulfemoglobinemia"@en, "Sulfhemoglobinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12451"^^xsd:string ; a owl:Class ; rdfs:label "sulfhemoglobinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_620 . obo:DOID_12465 oboInOwl:hasDbXref "ICD10CM:N25.81"^^xsd:string, "ICD9CM:588.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:19034001"^^xsd:string, "UMLS_CUI:C0271847"^^xsd:string ; oboInOwl:hasExactSynonym "hyperparathyroidism due to renal insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12465"^^xsd:string ; a owl:Class ; rdfs:label "secondary hyperparathyroidism of renal origin"^^xsd:string ; rdfs:subClassOf obo:DOID_12466, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_12466 oboInOwl:hasDbXref "MESH:D006962"^^xsd:string, "NCI:C113335"^^xsd:string, "SNOMEDCT_US_2021_03_01:91478007"^^xsd:string, "UMLS_CUI:C0020503"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12466"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secondary hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_13543 . obo:DOID_1247 obo:IAO_0000115 "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13997"^^xsd:string, "DOID:2212"^^xsd:string, "DOID:9474"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.9"^^xsd:string, "ICD9CM:286"^^xsd:string, "MESH:D001778"^^xsd:string, "NCI:C2902"^^xsd:string, "SNOMEDCT_US_2021_03_01:64779008"^^xsd:string, "UMLS_CUI:C0005779"^^xsd:string ; oboInOwl:hasExactSynonym "coagulation protein disease"^^xsd:string, "postpartum coagulation defect"@en, "postpartum coagulation defect with delivery"@en ; oboInOwl:hasNarrowSynonym "inherited blood coagulation disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1247"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "blood coagulation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_74 . obo:DOID_12474 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B81.1"^^xsd:string, "ICD9CM:127.5"^^xsd:string, "MESH:D017189"^^xsd:string, "SNOMEDCT_US_2021_03_01:52979002"^^xsd:string, "UMLS_CUI:C0006897"^^xsd:string ; oboInOwl:hasExactSynonym "Capillaria infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12474"^^xsd:string ; a owl:Class ; rdfs:label "capillariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_409, obo:DOID_5295, obo:DOID_850, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_119095 ] . obo:DOID_12475 oboInOwl:hasDbXref "ICD9CM:726.61"^^xsd:string, "UMLS_CUI:C0158314"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12475"^^xsd:string ; a owl:Class ; rdfs:label "pes anserinus tendinitis or bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204 . obo:DOID_1248 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:359610006"^^xsd:string, "UMLS_CUI:C0155169"^^xsd:string ; oboInOwl:hasExactSynonym "hyperEMIA eye"@en, "hyperemia of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1248"^^xsd:string ; a owl:Class ; rdfs:label "ocular hyperemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_1249 oboInOwl:hasExactSynonym "Conjunctival vascular disorder and cysts (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1249"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Conjunctival vascular disorder and cysts"^^xsd:string ; owl:deprecated true . obo:DOID_12491 oboInOwl:hasDbXref "ICD10CM:G52.2"^^xsd:string, "ICD9CM:352.3"^^xsd:string, "MESH:D020421"^^xsd:string, "NCI:C27591"^^xsd:string, "SNOMEDCT_US_2021_03_01:73765005"^^xsd:string, "UMLS_CUI:C0152179"^^xsd:string ; oboInOwl:hasExactSynonym "Vagus nerve disorder"@en, "disorder of pneumogastric [10th] nerve"@en, "disorder of vagal nerve"@en, "disorder of vagus nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vagus nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001759 ] ) ] . obo:DOID_125 obo:IAO_0000115 "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6373"^^xsd:string, "UMLS_CUI:C1336939"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagina leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] . obo:DOID_12506 obo:IAO_0000115 "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)."^^xsd:string ; oboInOwl:hasDbXref "GARD:5906"^^xsd:string, "ICD10CM:G51.0"^^xsd:string, "ICD9CM:351.0"^^xsd:string, "MESH:D020330"^^xsd:string, "SNOMEDCT_US_2021_03_01:193093009"^^xsd:string, "UMLS_CUI:C0376175"^^xsd:string ; oboInOwl:hasExactSynonym "Bell palsy"@en, "Bell's (facial) palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12506"^^xsd:string ; a owl:Class ; rdfs:label "Bell's palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_13934 . obo:DOID_12508 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12508"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1251 obo:IAO_0000115 "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:016.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:83652003"^^xsd:string, "UMLS_CUI:C0152814"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1251"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous epididymitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080373, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] . obo:DOID_12510 obo:IAO_0000115 "An ischemia that is characterized by restriction in blood supply to the retina."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.82"^^xsd:string, "ICD9CM:362.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:193427006"^^xsd:string, "UMLS_CUI:C0162291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12510"^^xsd:string ; a owl:Class ; rdfs:label "retinal ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, obo:DOID_326, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] . obo:DOID_12514 oboInOwl:hasDbXref "MESH:D012167"^^xsd:string, "NCI:C50732"^^xsd:string, "SNOMEDCT_US_2021_03_01:40024006"^^xsd:string, "UMLS_CUI:C0035321"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal break"@en, "Retinal dialysis"@en, "Retinal tear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal perforation"^^xsd:string ; rdfs:subClassOf obo:DOID_5327 . obo:DOID_1252 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:10720"^^xsd:string, "ICD10CM:B79"^^xsd:string, "ICD9CM:127.3"^^xsd:string, "MESH:D014257"^^xsd:string, "NCI:C128399"^^xsd:string, "SNOMEDCT_US_2021_03_01:60570001"^^xsd:string, "UMLS_CUI:C0040954"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Trichuris trichura"@en, "Trichuriasis infection"@en, "Whipworm disease"@en, "trichuris trichiura infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trichuriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_36087 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_12522 obo:IAO_0000115 "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.1"^^xsd:string, "ICD9CM:495.1"^^xsd:string, "MESH:D011009"^^xsd:string, "NCI:C34409"^^xsd:string, "SNOMEDCT_US_2021_03_01:67242002"^^xsd:string, "UMLS_CUI:C0004681"^^xsd:string ; oboInOwl:hasExactSynonym "sugar cane worker pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bagassosis"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_12524 oboInOwl:hasDbXref "ICD10CM:G57.6"^^xsd:string, "ICD9CM:355.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:193148004"^^xsd:string, "UMLS_CUI:C0154752"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of plantar nerve"@en, "Plantar nerve lesion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12524"^^xsd:string ; a owl:Class ; rdfs:label "plantar nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 . obo:DOID_12525 oboInOwl:hasExactSynonym "Meralgia paraesthetica"@en, "Meralgia paresthetica"@en, "Meralgia paresthetica (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12525"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12526 oboInOwl:hasDbXref "GARD:7733"^^xsd:string, "ICD10CM:G57.5"^^xsd:string, "ICD9CM:355.5"^^xsd:string, "MESH:D013641"^^xsd:string, "NCI:C85183"^^xsd:string, "SNOMEDCT_US_2021_03_01:155077008"^^xsd:string, "UMLS_CUI:C0039319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12526"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tarsal tunnel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1187 . obo:DOID_12527 oboInOwl:hasDbXref "ICD10CM:G57.3"^^xsd:string, "ICD9CM:355.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:399107008"^^xsd:string, "UMLS_CUI:C0270909"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12527"^^xsd:string ; a owl:Class ; rdfs:label "common peroneal nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 . obo:DOID_12528 oboInOwl:hasDbXref "ICD10CM:G57.0"^^xsd:string, "ICD9CM:355.0"^^xsd:string, "MESH:D020426"^^xsd:string, "SNOMEDCT_US_2021_03_01:52585001"^^xsd:string, "UMLS_CUI:C0154748"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12528"^^xsd:string ; a owl:Class ; rdfs:label "lesion of sciatic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001322 ] ) ] . obo:DOID_12529 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:359842002"^^xsd:string, "UMLS_CUI:C0154751"^^xsd:string ; oboInOwl:hasExactSynonym "Tibial nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12529"^^xsd:string ; a owl:Class ; rdfs:label "tibial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001323 ] ) ] . obo:DOID_1253 obo:IAO_0000115 "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands."^^xsd:string ; oboInOwl:hasExactSynonym "enoplida infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1253"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enoplea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12531 obo:IAO_0000115 "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion."^^xsd:string ; oboInOwl:hasDbXref "GARD:7867"^^xsd:string, "ICD10CM:D68.0"^^xsd:string, "ICD9CM:286.4"^^xsd:string, "MESH:D014842"^^xsd:string, "NCI:C68677"^^xsd:string, "SNOMEDCT_US_2021_03_01:11093006"^^xsd:string, "UMLS_CUI:C0042974"^^xsd:string ; oboInOwl:hasExactSynonym "vascular hemophilia"@en, "vascular pseudohemophilia"@en, "von Willebrand disease"@en, "von Willebrand disorder"@en, "von Willebrand's-Jurgens' disease"@en, "von Willebrand-Jrgens disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "von Willebrand's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 . obo:DOID_12537 oboInOwl:hasDbXref "ICD9CM:724.71"^^xsd:string, "SNOMEDCT_US_2021_03_01:202809009"^^xsd:string, "UMLS_CUI:C0158295"^^xsd:string ; oboInOwl:hasExactSynonym "Coccygeal hypermobility syndrome"@en, "hypermobility of the coccyx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12537"^^xsd:string ; a owl:Class ; rdfs:label "hypermobility of coccyx"^^xsd:string ; rdfs:subClassOf obo:DOID_1123 . obo:DOID_12538 oboInOwl:hasExactSynonym "venereal disease of pharynx due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12538"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis pharyngitis"^^xsd:string ; owl:deprecated true . obo:DOID_12539 oboInOwl:hasExactSynonym "Chlamydial infection of anus and rectum (disorder)"@en, "Venereal disease of the anus and rectum due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12539"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis proctitis"^^xsd:string ; owl:deprecated true . obo:DOID_1254 obo:IAO_0000115 "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B81.2"^^xsd:string, "ICD9CM:127.6"^^xsd:string, "MESH:D014253"^^xsd:string, "SNOMEDCT_US_2021_03_01:33710003"^^xsd:string, "UMLS_CUI:C0040948"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Trichostrongylus"@en, "Infection by Trichostrongylus species"@en, "Trichostrongyliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1254"^^xsd:string ; a owl:Class ; rdfs:label "trichostrongylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1255, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D014253"^^xsd:string . obo:DOID_12541 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12541"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_12542 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12542"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12543 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12543"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12546 oboInOwl:hasDbXref "ICD10CM:H73.82"^^xsd:string, "ICD9CM:384.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:194323000"^^xsd:string, "UMLS_CUI:C0155471"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12546"^^xsd:string ; a owl:Class ; rdfs:label "atrophic nonflaccid tympanic membrane"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_12549 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12547"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006506"^^xsd:string, "NCI:C3096"^^xsd:string, "SNOMEDCT_US_2021_03_01:40468003"^^xsd:string, "UMLS_CUI:C0019159"^^xsd:string ; oboInOwl:hasExactSynonym "Viral hepatitis, type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Viral hepatitis A"@en ; oboInOwl:id "DOID:12549"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatitis A"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_12092 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_1255 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014252"^^xsd:string, "UMLS_CUI:C0040947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1255"^^xsd:string ; a owl:Class ; rdfs:label "trichostrongyloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_12550 oboInOwl:hasDbXref "ICD10CM:K72.91"^^xsd:string, "MESH:D006501"^^xsd:string, "SNOMEDCT_US_2021_03_01:197332007"^^xsd:string, "UMLS_CUI:C0019147"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatocerebral intoxication"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12550"^^xsd:string ; a owl:Class ; rdfs:label "hepatic coma"^^xsd:string ; rdfs:subClassOf obo:DOID_13413 . obo:DOID_12551 oboInOwl:hasExactSynonym "Septicemia due to E. Coli (disorder)"@en, "Septicemia due to escherichia coli"@en, "Septicemia due to escherichia coli [E. coli]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12551"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_12554 obo:IAO_0000115 "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:6588"^^xsd:string, "ICD10CM:D59.3"^^xsd:string, "ICD9CM:283.11"^^xsd:string, "MESH:D006463"^^xsd:string, "NCI:C75545"^^xsd:string, "ORDO:2134"^^xsd:string, "SNOMEDCT_US_2021_03_01:123308008"^^xsd:string, "UMLS_CUI:C0019061"^^xsd:string ; oboInOwl:hasExactSynonym "haemolytic-uraemic syndrome"@en, "hemolytic uremic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12554"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hemolytic-uremic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12555 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12555"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute renal failure with lesion of renal cortical necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_12556 obo:IAO_0000115 "An acute kidney failure that is characterized by necrosis of epithelial tubule cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N17.0"^^xsd:string, "MESH:D007683"^^xsd:string, "NCI:C34749"^^xsd:string, "SNOMEDCT_US_2021_03_01:23697004"^^xsd:string, "UMLS_CUI:C0022672"^^xsd:string ; oboInOwl:hasExactSynonym "ATN - acute tubular necrosis"@en, "acute renal Failure with tubular necrosis"@en, "acute renal failure with lesion of tubular necrosis"@en, "acute tubular necrosis"@en, "acute tubule necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12556"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute kidney tubular necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3021, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_12557 oboInOwl:hasDbXref "ICD10CM:H50.81"^^xsd:string, "ICD9CM:378.71"^^xsd:string, "MESH:D004370"^^xsd:string, "NCI:C84678"^^xsd:string, "OMIM:126800"^^xsd:string, "OMIM:604356"^^xsd:string, "ORDO:233"^^xsd:string, "SNOMEDCT_US_2021_03_01:60318001"^^xsd:string, "UMLS_CUI:C0013261"^^xsd:string ; oboInOwl:hasExactSynonym "Duane's syndrome"@en, "Stilling-Turk-Duane syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12557"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Duane retraction syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12558 oboInOwl:hasDbXref "GARD:4503"^^xsd:string, "ICD10CM:H49.4"^^xsd:string, "ICD9CM:378.72"^^xsd:string, "MESH:D017246"^^xsd:string, "OMIM:PS157640"^^xsd:string, "SNOMEDCT_US_2021_03_01:194126004"^^xsd:string, "UMLS_CUI:C0162674"^^xsd:string ; oboInOwl:hasExactSynonym "progressive external ophthalmoplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12558"^^xsd:string ; a owl:Class ; rdfs:label "chronic progressive external ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_699 . obo:DOID_12559 obo:IAO_0000115 "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:733.02"^^xsd:string, "OMIM:259750"^^xsd:string, "SNOMEDCT_US_2021_03_01:3345002"^^xsd:string, "UMLS_CUI:C0158447"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic osteoporosis"@en, "juvenile osteoporosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12559"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic juvenile osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11476, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_12566 obo:IAO_0000115 "A vulvar disease that is characterized by the presence of ulcers."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N77.0"^^xsd:string, "ICD9CM:616.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:198230004"^^xsd:string, "UMLS_CUI:C0156340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12566"^^xsd:string ; a owl:Class ; rdfs:label "ulceration of vulva"^^xsd:string ; rdfs:subClassOf obo:DOID_2059 . obo:DOID_12568 obo:IAO_0000115 "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060705"^^xsd:string ; oboInOwl:hasExactSynonym "Mathematics disorder"@en, "disorder of arithmetical skills"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12568"^^xsd:string ; a owl:Class ; rdfs:label "dyscalculia"^^xsd:string ; rdfs:subClassOf obo:DOID_8927 . obo:DOID_12569 obo:IAO_0000115 "A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050017"^^xsd:string, "DOID:0050018"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular Trypanosomiasis"@en, "Chagas' cardiomyopathy"@en, "Chagas' disease cardiomyopathy"@en, "Chagas' disease with heart involvement"@en, "Chagas' disease with heart involvement (disorder)"@en, "acute chagas' disease with heart involvement"@en, "chronic chagas' disease with heart involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12569"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chagas cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_1257 oboInOwl:hasAlternativeId "DOID:1256"^^xsd:string, "DOID:12946"^^xsd:string, "DOID:2259"^^xsd:string ; oboInOwl:hasExactSynonym "Transient hypertension of pregnancy, with delivery"@en, "antepartum transient hypertension of pregnancy"@en, "postpartum transient hypertension of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Transient hypertension of pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_12570 obo:IAO_0000115 "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:32893002"^^xsd:string, "UMLS_CUI:C0152137"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12570"^^xsd:string ; a owl:Class ; rdfs:label "phacolytic glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_12571 . obo:DOID_12571 obo:IAO_0000115 "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.59"^^xsd:string, "SNOMEDCT_US_2021_03_01:84333006"^^xsd:string, "UMLS_CUI:C0154959"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12571"^^xsd:string ; a owl:Class ; rdfs:label "phacogenic glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_12573 oboInOwl:hasDbXref "ICD10CM:P72.1"^^xsd:string, "ICD9CM:775.3"^^xsd:string, "NCI:C114906"^^xsd:string, "SNOMEDCT_US_2021_03_01:13795004"^^xsd:string, "UMLS_CUI:C0158983"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal thyrotoxicosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal thyrotoxicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_7997 . obo:DOID_12574 oboInOwl:hasDbXref "GARD:4457"^^xsd:string, "MESH:D015866"^^xsd:string, "NCI:C35111"^^xsd:string, "SNOMEDCT_US_2021_03_01:46627006"^^xsd:string, "UMLS_CUI:C0042167"^^xsd:string ; oboInOwl:hasExactSynonym "Uveitis, posterior"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12574"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_12030 . obo:DOID_12577 oboInOwl:hasDbXref "MESH:D014524"^^xsd:string, "NCI:C79804"^^xsd:string, "SNOMEDCT_US_2021_03_01:95588004"^^xsd:string, "UMLS_CUI:C0041972"^^xsd:string ; oboInOwl:hasExactSynonym "Obstruction of urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_12580 obo:IAO_0000115 "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat."^^xsd:string ; oboInOwl:hasDbXref "GARD:6213"^^xsd:string, "ICD10CM:Q93.4"^^xsd:string, "ICD9CM:758.31"^^xsd:string, "MESH:D003410"^^xsd:string, "NCI:C34518"^^xsd:string, "OMIM:123450"^^xsd:string, "SNOMEDCT_US_2021_03_01:70173007"^^xsd:string, "UMLS_CUI:C0010314"^^xsd:string ; oboInOwl:hasExactSynonym "5p deletion syndrome"@en, "5p partial monosomy syndrome"@en, "Cri-du-chat syndrome"@en, "chromosome 5 short arm deletion syndrome"@en, "chromosome 5p deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Cri-Du-Chat syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_12581 oboInOwl:hasDbXref "ICD10CM:M70.2"^^xsd:string, "ICD9CM:726.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:425940002"^^xsd:string, "UMLS_CUI:C0263962"^^xsd:string ; oboInOwl:hasExactSynonym "Bursitis of elbow"@en, "Bursitis of elbow region"@en, "Capped elbow"@en, "Elbow bursitis"@en, "Miner's elbow"@en, "Miners' elbow"@en, "Shoe boil"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12581"^^xsd:string ; a owl:Class ; rdfs:label "olecranon bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204, obo:DOID_2965 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2965 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006810 ] ) ] . obo:DOID_12582 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12582"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enthesopathy of elbow"^^xsd:string ; owl:deprecated true . obo:DOID_12583 obo:IAO_0000115 "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.81"^^xsd:string, "ICD9CM:758.32"^^xsd:string, "MESH:D004062"^^xsd:string, "OMIM:192430"^^xsd:string, "SNOMEDCT_US_2021_03_01:205642004"^^xsd:string, "UMLS_CUI:C0220704"^^xsd:string ; oboInOwl:hasExactSynonym "Shprintzen syndrome"@en, "VCF-Velocardiofacial syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12583"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "velocardiofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_12584 oboInOwl:hasExactSynonym "Diabetes mellitus during pregnancy - baby delivered (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12584"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Diabetes mellitus of mother, with delivery"^^xsd:string ; owl:deprecated true . obo:DOID_12594 obo:IAO_0000115 "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus."^^xsd:string ; oboInOwl:hasDbXref "GARD:4462"^^xsd:string, "ICD10CM:Q60.6"^^xsd:string, "NCI:C40435"^^xsd:string, "SNOMEDCT_US_2021_03_01:41962002"^^xsd:string, "UMLS_CUI:C0178426"^^xsd:string ; oboInOwl:hasExactSynonym "Potter sequence"@en, "Potter syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Potter's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_14766 . obo:DOID_1260 oboInOwl:hasDbXref "MESH:D010249"^^xsd:string, "SNOMEDCT_US_2021_03_01:280483007"^^xsd:string, "UMLS_CUI:C0030455"^^xsd:string ; oboInOwl:hasExactSynonym "pelvic cellulitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1260"^^xsd:string ; a owl:Class ; rdfs:label "parametritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1003 . obo:DOID_12603 obo:IAO_0000115 "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12621"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C95.00"^^xsd:string, "ICD9CM:208.0"^^xsd:string, "NCI:C9300"^^xsd:string, "OMIM:308960"^^xsd:string, "SNOMEDCT_US_2021_03_01:24072005"^^xsd:string, "UMLS_CUI:C0085669"^^xsd:string, "UMLS_CUI:C1378511"^^xsd:string ; oboInOwl:hasExactSynonym "Stem cell Leukemia"@en, "Stem cell leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12603"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1037 . obo:DOID_12604 oboInOwl:hasExactSynonym "secondary malignant neoplasm of adrenal gland"@en, "secondary malignant neoplasm of adrenal gland (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of suprarenal gland"^^xsd:string ; owl:deprecated true . obo:DOID_12605 oboInOwl:hasExactSynonym "metastatic tumor to the Adrenals"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12605"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to adrenals"^^xsd:string ; owl:deprecated true . obo:DOID_12608 obo:IAO_0000115 "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12607"^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcus aureus pneumonia"@en, "pneumonia due to staphylococcus aureus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12608"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1261 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1261"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related pelvic inflammatory disease"^^xsd:string ; owl:deprecated true . obo:DOID_12610 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12610"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenal hemorrhage of fetus or newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12612 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12612"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal hemorrhage of fetus or newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12633 obo:IAO_0000115 "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene."^^xsd:string ; oboInOwl:hasExactSynonym "Cervicofacial actinomycotic infection"@en, "Lumpy jaw"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12633"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cervicofacial actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_12634 obo:IAO_0000115 "An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12634"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_12637 obo:IAO_0000115 "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.81"^^xsd:string, "ICD9CM:618.05"^^xsd:string, "UMLS_CUI:C1456251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12637"^^xsd:string ; a owl:Class ; rdfs:label "perineocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_12638 obo:IAO_0000115 "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q40.0"^^xsd:string, "ICD9CM:750.5"^^xsd:string, "MESH:D046248"^^xsd:string, "NCI:C98952"^^xsd:string, "OMIM:179010"^^xsd:string, "OMIM:300711"^^xsd:string, "OMIM:610260"^^xsd:string, "OMIM:612017"^^xsd:string, "OMIM:612525"^^xsd:string, "SNOMEDCT_US_2021_03_01:48644003"^^xsd:string, "UMLS_CUI:C0700639"^^xsd:string ; oboInOwl:hasExactSynonym "congenital hypertrophic pyloric stenosis"@en, "congenital or infantile stricture of pylorus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12638"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypertrophic pyloric stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_12639, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12639 oboInOwl:hasDbXref "ICD10CM:K31.1"^^xsd:string, "MESH:D011707"^^xsd:string, "NCI:C34966"^^xsd:string, "SNOMEDCT_US_2021_03_01:367403001"^^xsd:string, "UMLS_CUI:C0034194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyloric stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3122 . obo:DOID_12641 oboInOwl:hasDbXref "ICD10CM:Q40.1"^^xsd:string, "ICD9CM:750.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:47028006"^^xsd:string, "UMLS_CUI:C0158674"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital hiatus hernia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12641"^^xsd:string ; a owl:Class ; rdfs:label "displacement of cardia through esophageal hiatus"^^xsd:string ; rdfs:subClassOf obo:DOID_12642 . obo:DOID_12642 oboInOwl:hasDbXref "ICD10CM:K44"^^xsd:string, "MESH:D006551"^^xsd:string, "NCI:C98945"^^xsd:string, "OMIM:142400"^^xsd:string, "SNOMEDCT_US_2021_03_01:236053002"^^xsd:string, "SNOMEDCT_US_2021_03_01:3662000"^^xsd:string, "SNOMEDCT_US_2021_03_01:84089009"^^xsd:string, "UMLS_CUI:C0267725"^^xsd:string, "UMLS_CUI:C0376710"^^xsd:string, "UMLS_CUI:C3489393"^^xsd:string ; oboInOwl:hasExactSynonym "Diaphragmatic - hiatus -hernia"@en, "hiatal hernia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12642"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hiatus hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12647 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12647"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vulva, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_1265 obo:IAO_0000115 "An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete genitourinary cancer"^^xsd:string ; owl:deprecated true . obo:DOID_12651 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12651"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm associated with inflammatory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12657 oboInOwl:hasDbXref "ICD10CM:H93.3"^^xsd:string, "ICD9CM:388.5"^^xsd:string, "MESH:D000160"^^xsd:string, "NCI:C27207"^^xsd:string, "SNOMEDCT_US_2021_03_01:77949003"^^xsd:string, "UMLS_CUI:C0001163"^^xsd:string ; oboInOwl:hasExactSynonym "acoustic nerve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vestibulocochlear nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2889, obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001648 ] ) ] . obo:DOID_12661 oboInOwl:hasDbXref "GARD:701"^^xsd:string, "ICD10CM:K03.5"^^xsd:string, "ICD9CM:521.6"^^xsd:string, "MESH:D020254"^^xsd:string, "OMIM:157950"^^xsd:string, "SNOMEDCT_US_2021_03_01:14901003"^^xsd:string, "UMLS_CUI:C0155930"^^xsd:string ; oboInOwl:hasExactSynonym "Ankylosis of teeth"@en, "Ankylosis of tooth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12661"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tooth ankylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_214, obo:DOID_227 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_227 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001091 ] ) ] . obo:DOID_12662 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7323"^^xsd:string, "ICD10CM:B41"^^xsd:string, "ICD9CM:116.1"^^xsd:string, "MESH:D010229"^^xsd:string, "NCI:C34891"^^xsd:string, "SNOMEDCT_US_2021_03_01:59925007"^^xsd:string, "UMLS_CUI:C0030409"^^xsd:string ; oboInOwl:hasExactSynonym "Mucocutaneous-lymphangitic paracoccidioidomycosis"@en, "Paracoccidioidomycosis"@en, "paracoccidioidal mycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12662"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paracoccidioidomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_121759 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050292 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0000029 obo:UBERON_0000344 obo:UBERON_0001474 obo:UBERON_0002048 ) ] ] ) ] . obo:DOID_12663 obo:IAO_0000115 "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13067"^^xsd:string ; oboInOwl:hasDbXref "GARD:5931"^^xsd:string, "ICD10CM:B40"^^xsd:string, "ICD9CM:116.0"^^xsd:string, "MESH:D001759"^^xsd:string, "NCI:C34428"^^xsd:string, "SNOMEDCT_US_2021_03_01:266217003"^^xsd:string, "UMLS_CUI:C0005716"^^xsd:string ; oboInOwl:hasExactSynonym "Blastomyces Dermatitidis Infection"@en, "Blastomycotic infection"@en, "Chicago disease"@en, "Gilchrist's disease"@en, "Infection by Blastomyces dermatitidis"@en, "North American blastomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12663"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blastomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5039 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_12667 oboInOwl:hasAlternativeId "DOID:12671"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.30"^^xsd:string, "ICD9CM:368.30"^^xsd:string, "NCI:C34422"^^xsd:string, "SNOMEDCT_US_2021_03_01:83275001"^^xsd:string, "UMLS_CUI:C0005461"^^xsd:string ; oboInOwl:hasExactSynonym "simultaneous visual perception without fusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12667"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "binocular vision disease"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12668 oboInOwl:hasDbXref "ICD10CM:H53.31"^^xsd:string, "ICD9CM:368.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:79195003"^^xsd:string, "UMLS_CUI:C0155010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12668"^^xsd:string ; a owl:Class ; rdfs:label "abnormal retinal correspondence"^^xsd:string ; rdfs:subClassOf obo:DOID_12667 . obo:DOID_12670 oboInOwl:hasExactSynonym "Fusion with defective stereopsis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12670"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fusion with defective stereopsis"^^xsd:string ; owl:deprecated true . obo:DOID_12678 oboInOwl:hasDbXref "ICD10CM:E83.52"^^xsd:string, "ICD9CM:275.42"^^xsd:string, "MESH:D006934"^^xsd:string, "NCI:C3112"^^xsd:string, "SNOMEDCT_US_2021_03_01:154752005"^^xsd:string, "UMLS_CUI:C0020437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypercalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10575 . obo:DOID_12679 oboInOwl:hasDbXref "GARD:7177"^^xsd:string, "MESH:D009397"^^xsd:string, "NCI:C84918"^^xsd:string, "SNOMEDCT_US_2021_03_01:154752005"^^xsd:string, "UMLS_CUI:C0027709"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12680 obo:IAO_0000115 "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom abnormal bulbar reflexes, and has_symptom emotional outbursts."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:335.23"^^xsd:string, "MESH:D020828"^^xsd:string, "NCI:C129934"^^xsd:string, "SNOMEDCT_US_2021_03_01:7379000"^^xsd:string, "UMLS_CUI:C0033790"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudobulbar palsy"@en, "pseudobulbar paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudobulbar palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_12683 obo:IAO_0000115 "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H81.2"^^xsd:string, "ICD9CM:386.12"^^xsd:string, "MESH:D020338"^^xsd:string, "SNOMEDCT_US_2021_03_01:232293008"^^xsd:string, "UMLS_CUI:C0751908"^^xsd:string ; oboInOwl:hasExactSynonym "Epidemic neurolabyrinthitis"@en, "Vestibular neuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12683"^^xsd:string ; a owl:Class ; rdfs:label "vestibular neuronitis"^^xsd:string ; rdfs:subClassOf obo:DOID_12657, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12685 obo:IAO_0000115 "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.2"^^xsd:string, "ICD9CM:315.32"^^xsd:string, "NCI:C92563"^^xsd:string, "SNOMEDCT_US_2021_03_01:25766007"^^xsd:string, "UMLS_CUI:C0236827"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed receptive-expressive language disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2033 . obo:DOID_12689 oboInOwl:hasDbXref "GARD:223"^^xsd:string, "MESH:D009464"^^xsd:string, "NCI:C3276"^^xsd:string, "SNOMEDCT_US_2021_03_01:269643009"^^xsd:string, "UMLS_CUI:C0027859"^^xsd:string ; oboInOwl:hasExactSynonym "Vestibular Neurilemmoma"@en, "Vestibular schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12689"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acoustic neuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_1269 oboInOwl:hasExactSynonym "tuberculosis of thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1269"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete thyroid gland tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_12694 oboInOwl:hasAlternativeId "DOID:12695"^^xsd:string, "DOID:12696"^^xsd:string ; oboInOwl:hasExactSynonym "hyperemesis gravidarum with metabolic disturbance - delivered (disorder)"@en, "hyperemesis gravidarum with metabolic disturbance, antepartum"@en, "hyperemesis gravidarum with metabolic disturbance, delivered"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12694"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperemesis gravidarum with metabolic disturbance"^^xsd:string ; owl:deprecated true . obo:DOID_12697 obo:IAO_0000115 "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes."^^xsd:string ; oboInOwl:hasDbXref "GARD:6919"^^xsd:string, "ICD10CM:G83.5"^^xsd:string, "ICD9CM:344.81"^^xsd:string, "MESH:D000080422"^^xsd:string, "SNOMEDCT_US_2021_03_01:38023001"^^xsd:string, "UMLS_CUI:C0023944"^^xsd:string ; oboInOwl:hasExactSynonym "Locked in syndrome"@en, "Locked-in state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12697"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "locked-in syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_12698 obo:IAO_0000115 "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N62"^^xsd:string, "MESH:D006177"^^xsd:string, "NCI:C3073"^^xsd:string, "SNOMEDCT_US_2021_03_01:155963008"^^xsd:string, "UMLS_CUI:C0018418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gynecomastia"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_127 obo:IAO_0000115 "A cell type benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007889"^^xsd:string, "NCI:C3157"^^xsd:string, "SNOMEDCT_US_2021_03_01:702978006"^^xsd:string, "UMLS_CUI:C0023267"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyomatous neoplasm"@en, "leiomyomatous tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] ) ] . obo:DOID_1270 obo:IAO_0000115 "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins."^^xsd:string ; oboInOwl:hasDbXref "GARD:6626"^^xsd:string, "ICD10CM:I78.0"^^xsd:string, "ICD9CM:448.0"^^xsd:string, "MESH:D013683"^^xsd:string, "NCI:C35064"^^xsd:string, "OMIM:187300"^^xsd:string, "OMIM:600376"^^xsd:string, "OMIM:601101"^^xsd:string, "OMIM:615506"^^xsd:string, "ORDO:774"^^xsd:string, "SNOMEDCT_US_2021_03_01:266324004"^^xsd:string, "UMLS_CUI:C0039445"^^xsd:string ; oboInOwl:hasExactSynonym "Osler hemorrhagic telangiectasia syndrome"@en, "Osler-Weber-Rendu disease"@en, "Rendu-Osler-Weber disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary hemorrhagic telangiectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_12700 obo:IAO_0000115 "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12699"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E22.1"^^xsd:string, "MESH:D002640"^^xsd:string, "MESH:D006966"^^xsd:string, "SNOMEDCT_US_2021_03_01:190468001"^^xsd:string, "SNOMEDCT_US_2021_03_01:85039006"^^xsd:string, "UMLS_CUI:C0008043"^^xsd:string, "UMLS_CUI:C0020514"^^xsd:string ; oboInOwl:hasExactSynonym "Chiari-Frommel syndrome"@en, "Pregnancy-related A-G syndrome"@en, "hyperprolactinaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperprolactinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_12702 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rotator cuff shoulder syndrome and allied disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12704 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5862"^^xsd:string, "MESH:D001260"^^xsd:string, "NCI:C2887"^^xsd:string, "OMIM:208900"^^xsd:string, "SNOMEDCT_US_2021_03_01:68504005"^^xsd:string, "UMLS_CUI:C0004135"^^xsd:string ; oboInOwl:hasExactSynonym "Boder-Sedgwick syndrome"@en, "Louis Bar syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12704"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ataxia telangiectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 ; skos:exactMatch "MESH:D001260"^^xsd:string . obo:DOID_12705 oboInOwl:hasAlternativeId "DOID:0050555"^^xsd:string ; oboInOwl:hasDbXref "GARD:6468"^^xsd:string, "ICD10CM:G11.11"^^xsd:string, "ICD9CM:334.0"^^xsd:string, "MESH:D005621"^^xsd:string, "NCI:C84718"^^xsd:string, "SNOMEDCT_US_2021_03_01:155011003"^^xsd:string, "UMLS_CUI:C0016719"^^xsd:string ; oboInOwl:hasExactSynonym "Friedreich ataxia 1"@en, "Friedreich's ataxia"@en, "Friedreich's tabes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12705"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Friedreich ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 ; skos:exactMatch "MESH:D005621"^^xsd:string . obo:DOID_12707 oboInOwl:hasDbXref "GARD:9256"^^xsd:string, "MESH:D002527"^^xsd:string, "OMIM:213400"^^xsd:string, "SNOMEDCT_US_2021_03_01:41009006"^^xsd:string, "UMLS_CUI:C0007761"^^xsd:string ; oboInOwl:hasExactSynonym "Dyssynergia cerebellaris myoclonica"@en, "progressive cerebellar tremor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12707"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myoclonic cerebellar dyssynergia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_1271 obo:IAO_0000115 "A vascular disease that is located_in the capillaries."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I78"^^xsd:string, "ICD9CM:448"^^xsd:string, "SNOMEDCT_US_2021_03_01:58729003"^^xsd:string, "UMLS_CUI:C0155765"^^xsd:string ; oboInOwl:hasExactSynonym "disease of capillaries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1271"^^xsd:string ; a owl:Class ; rdfs:label "capillary disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001982 ] ) ] . obo:DOID_12710 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary African histoplasmosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12710"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12711 obo:IAO_0000115 "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.3"^^xsd:string, "ICD9CM:111.3"^^xsd:string, "MESH:D010854"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "SNOMEDCT_US_2021_03_01:33666009"^^xsd:string, "UMLS_CUI:C0031898"^^xsd:string, "UMLS_CUI:C0153249"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12711"^^xsd:string ; a owl:Class ; rdfs:comment """Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases."""^^xsd:string ; rdfs:label "black piedra"^^xsd:string ; rdfs:subClassOf obo:DOID_0050133 . obo:DOID_12712 obo:IAO_0000115 "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)."^^xsd:string ; oboInOwl:hasDbXref "GARD:206"^^xsd:string, "ICD10CM:Q61.5"^^xsd:string, "NCI:C123200"^^xsd:string, "OMIM:PS256100"^^xsd:string, "ORDO:655"^^xsd:string, "SNOMEDCT_US_2021_03_01:204958008"^^xsd:string, "UMLS_CUI:C0687120"^^xsd:string ; oboInOwl:hasExactSynonym "medullary cystic disease"@en, "medullary cystic kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12712"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "nephronophthisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_12713 oboInOwl:hasExactSynonym "Medullary Sponge kidney"@en, "Medullary sponge kidney (disorder)"@en, "Sponge kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12713"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medullary sponge kidney"^^xsd:string ; owl:deprecated true . obo:DOID_12714 obo:IAO_0000115 "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:1301"^^xsd:string, "ICD10CM:Q77.6"^^xsd:string, "ICD9CM:756.55"^^xsd:string, "MESH:D004613"^^xsd:string, "NCI:C84684"^^xsd:string, "OMIM:225500"^^xsd:string, "SNOMEDCT_US_2021_03_01:62501005"^^xsd:string, "UMLS_CUI:C0013903"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroectodermal dysplasia"@en, "Ellis-van Creveld syndrome"@en, "mesoectodermal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ellis-Van Creveld syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_12715 oboInOwl:hasExactSynonym "Infective Myositis"@en, "Infective myositis"@en, "Infective myositis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12715"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious myositis"^^xsd:string ; owl:deprecated true . obo:DOID_12716 obo:IAO_0000115 "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11395"^^xsd:string, "DOID:13859"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P22.0"^^xsd:string, "MESH:D006819"^^xsd:string, "OMIM:267450"^^xsd:string, "SNOMEDCT_US_2021_03_01:26168007"^^xsd:string, "UMLS_CUI:C0020192"^^xsd:string ; oboInOwl:hasExactSynonym "HMD - Hyaline membrane disease"@en, "Neonatal respiratory Distress syndrome"@en, "hyaline membrane disease"@en, "pulmonary hyaline membrane disease"@en, "pulmonary hypoperfusion syndrome of newborn"@en, "respiratory distress syndrome of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12716"^^xsd:string ; a owl:Class ; rdfs:label "newborn respiratory distress syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_12718 obo:IAO_0000115 "A chronic salpingitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.37"^^xsd:string, "SNOMEDCT_US_2021_03_01:53529004"^^xsd:string, "UMLS_CUI:C0153208"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12718"^^xsd:string ; a owl:Class ; rdfs:label "chronic gonococcal salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5731 . obo:DOID_1272 oboInOwl:hasDbXref "MESH:D013684"^^xsd:string, "NCI:C28194"^^xsd:string, "SNOMEDCT_US_2021_03_01:112641009"^^xsd:string, "UMLS_CUI:C0039446"^^xsd:string ; oboInOwl:hasExactSynonym "telangiectasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "telangiectasis"^^xsd:string ; rdfs:subClassOf obo:DOID_341 . obo:DOID_12720 oboInOwl:hasDbXref "ICD10CM:I67.2"^^xsd:string, "ICD9CM:437.0"^^xsd:string, "MESH:D002537"^^xsd:string, "NCI:C34459"^^xsd:string, "SNOMEDCT_US_2021_03_01:266258005"^^xsd:string, "UMLS_CUI:C0007775"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral atherosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12720"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1936 . obo:DOID_12721 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "GARD:10756"^^xsd:string, "ICD9CM:756.56"^^xsd:string, "MESH:D010009"^^xsd:string, "ORDO:251"^^xsd:string, "SNOMEDCT_US_2021_03_01:59708000"^^xsd:string, "UMLS_CUI:C0026760"^^xsd:string ; oboInOwl:hasExactSynonym "polyepiphyseal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12721"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "multiple epiphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_12722 oboInOwl:hasExactSynonym "malignant neoplasm of liver, specified as secondary"@en, "metastasis to liver"@en, "metastatic tumor to the Liver"@en, "secondary malignant neoplasm of liver (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12722"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liver metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_12723 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12723"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung carcinoma metastatic to the liver"^^xsd:string ; owl:deprecated true . obo:DOID_12724 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12724"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast arcinoma metastatic to the liver"^^xsd:string ; owl:deprecated true . obo:DOID_12727 oboInOwl:hasAlternativeId "DOID:12728"^^xsd:string, "DOID:12729"^^xsd:string, "DOID:12730"^^xsd:string ; oboInOwl:hasExactSynonym "Retroverted and incarcerated gravid uterus, delivered"@en, "Retroverted incarcerated gravid uterus - delivered"@en, "Retroverted incarcerated gravid uterus - delivered (disorder)"@en, "antepartum retroverted and incarcerated gravid uterus"@en, "postpartum retroverted and incarcerated gravid uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12727"^^xsd:string ; a owl:Class ; rdfs:label "obsolete retroverted incarcerated gravid uterus"^^xsd:string ; owl:deprecated true . obo:DOID_1273 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018357"^^xsd:string, "NCI:C3354"^^xsd:string, "SNOMEDCT_US_2021_03_01:186750007"^^xsd:string, "UMLS_CUI:C0035235"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1273"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "respiratory syncytial virus infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11250 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_12731 oboInOwl:hasDbXref "GARD:7339"^^xsd:string, "ICD10CM:H30.2"^^xsd:string, "ICD9CM:363.21"^^xsd:string, "MESH:D015868"^^xsd:string, "NCI:C34903"^^xsd:string, "OMIM:606177"^^xsd:string, "SNOMEDCT_US_2021_03_01:193452008"^^xsd:string, "UMLS_CUI:C0030593"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior cyclitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pars planitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8886 . obo:DOID_12732 oboInOwl:hasDbXref "MESH:D015867"^^xsd:string, "NCI:C35110"^^xsd:string, "SNOMEDCT_US_2021_03_01:314429009"^^xsd:string, "UMLS_CUI:C0042166"^^xsd:string ; oboInOwl:hasExactSynonym "chronic cyclitis"@en, "peripheral uveoretinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12732"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13141 . obo:DOID_12733 oboInOwl:hasDbXref "ICD10CM:K03.4"^^xsd:string, "ICD9CM:521.5"^^xsd:string, "MESH:D006936"^^xsd:string, "SNOMEDCT_US_2021_03_01:78537008"^^xsd:string, "UMLS_CUI:C0020441"^^xsd:string ; oboInOwl:hasExactSynonym "Cementation hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12733"^^xsd:string ; a owl:Class ; rdfs:label "hypercementosis"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_12735 obo:IAO_0000115 "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abominal wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N83.4"^^xsd:string, "ICD9CM:620.4"^^xsd:string, "UMLS_CUI:C0495094"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12735"^^xsd:string ; a owl:Class ; rdfs:label "hernia of ovary and fallopian tube"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_12739 obo:IAO_0000115 "A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12739"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete bronchial tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_1275 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1275"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pneumovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12750 obo:IAO_0000115 "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue."^^xsd:string ; oboInOwl:hasDbXref "GARD:9528"^^xsd:string, "ICD10CM:A07.4"^^xsd:string, "ICD9CM:007.5"^^xsd:string, "MESH:D021866"^^xsd:string, "NCI:C128409"^^xsd:string, "SNOMEDCT_US_2021_03_01:240372001"^^xsd:string, "UMLS_CUI:C0343398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cyclosporiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12753 oboInOwl:hasDbXref "ICD10CM:H18.72"^^xsd:string, "ICD9CM:371.73"^^xsd:string, "SNOMEDCT_US_2021_03_01:193849005"^^xsd:string, "UMLS_CUI:C0152440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12753"^^xsd:string ; a owl:Class ; rdfs:label "corneal staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_12756 oboInOwl:hasDbXref "ICD9CM:190.7"^^xsd:string, "NCI:C3567"^^xsd:string, "SNOMEDCT_US_2021_03_01:93852003"^^xsd:string, "UMLS_CUI:C0153631"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lacrimal duct"@en, "malignant tumor of lacrimal duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal duct cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_292 . obo:DOID_12758 oboInOwl:hasExactSynonym "malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)"@en, "malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12758"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid"^^xsd:string ; owl:deprecated true . obo:DOID_12759 oboInOwl:hasAlternativeId "DOID:12760"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.3"^^xsd:string, "ICD9CM:190.6"^^xsd:string, "MESH:D002830"^^xsd:string, "NCI:C2949"^^xsd:string, "NCI:C3566"^^xsd:string, "SNOMEDCT_US_2021_03_01:127001008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93755007"^^xsd:string, "UMLS_CUI:C0008523"^^xsd:string, "UMLS_CUI:C0153630"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal tumor"@en, "choroid neoplasm"@en, "malignant tumor of choroid"@en, "malignant tumor of the Choroid"@en, "neoplasm of choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1417, obo:DOID_3479 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] ) ] . obo:DOID_12763 obo:IAO_0000115 "A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet."^^xsd:string ; oboInOwl:hasExactSynonym "Kaposi's sarcoma Classical type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12763"^^xsd:string ; a owl:Class ; rdfs:label "obsolete classic Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_12765 obo:IAO_0000115 "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common."^^xsd:string ; oboInOwl:hasExactSynonym "Peritonsillar abscess"@en, "Peritonsillar abscess (disorder)"@en, "Quinsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12765"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peritonsillar abscess"^^xsd:string ; owl:deprecated true . obo:DOID_12773 obo:IAO_0000115 "A Kaposi's sarcoma that is located_in black Africans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12773"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endemic African Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_12779 obo:IAO_0000115 "A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes."^^xsd:string ; oboInOwl:hasExactSynonym "recurrent Multiple Hemorrhagic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12779"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_1278 oboInOwl:hasDbXref "GARD:7777"^^xsd:string, "MESH:D020333"^^xsd:string, "NCI:C85193"^^xsd:string, "SNOMEDCT_US_2021_03_01:75111000"^^xsd:string, "UMLS_CUI:C0040381"^^xsd:string ; oboInOwl:hasExactSynonym "Tolosa-Hunt syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tolosa-hunt syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1279 . obo:DOID_12782 oboInOwl:hasDbXref "ICD9CM:374.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:28914006"^^xsd:string, "UMLS_CUI:C0155196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12782"^^xsd:string ; a owl:Class ; rdfs:label "cicatricial ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_1570 . obo:DOID_12783 obo:IAO_0000115 "A migraine that is characterized by migraine headaches that are not accompanied by an aura."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G43.0"^^xsd:string, "ICD9CM:346.1"^^xsd:string, "MESH:D020326"^^xsd:string, "NCI:C117004"^^xsd:string, "OMIM:607501"^^xsd:string, "SNOMEDCT_US_2021_03_01:56097005"^^xsd:string, "UMLS_CUI:C0338480"^^xsd:string ; oboInOwl:hasExactSynonym "common migraine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12783"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "migraine without aura"^^xsd:string ; rdfs:subClassOf obo:DOID_6364 . obo:DOID_12784 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12784"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_12785 oboInOwl:hasDbXref "ICD9CM:357.2"^^xsd:string, "MESH:D003929"^^xsd:string, "SNOMEDCT_US_2021_03_01:49455004"^^xsd:string, "UMLS_CUI:C0271680"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetes mellitus with polyneuropathy"@en, "Diabetic polyneuropathy"@en, "Polyneuropathy in diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12785"^^xsd:string ; a owl:Class ; rdfs:label "diabetic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9743 . obo:DOID_1279 oboInOwl:hasDbXref "GARD:7061"^^xsd:string, "GARD:7237"^^xsd:string, "ICD9CM:378.9"^^xsd:string, "MESH:D015835"^^xsd:string, "SNOMEDCT_US_2021_03_01:45030009"^^xsd:string, "UMLS_CUI:C0028850"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of eye movements"@en, "eye movement disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1279"^^xsd:string ; a owl:Class ; rdfs:label "ocular motility disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614, obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5656 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] . obo:DOID_12796 oboInOwl:hasExactSynonym "Posterior synechiae (disorder)"@en, "Posterior synechiae of iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12796"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Posterior synechiae"^^xsd:string ; owl:deprecated true . obo:DOID_12797 obo:IAO_0000115 "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F16.1"^^xsd:string, "ICD9CM:305.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:74851005"^^xsd:string, "UMLS_CUI:C0018526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12797"^^xsd:string ; a owl:Class ; rdfs:label "hallucinogen abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_12798 obo:IAO_0000115 "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14716"^^xsd:string ; oboInOwl:hasDbXref "GARD:7065"^^xsd:string, "ICD10CM:E76.3"^^xsd:string, "ICD9CM:277.5"^^xsd:string, "MESH:D009083"^^xsd:string, "NCI:C61259"^^xsd:string, "OMIM:252700"^^xsd:string, "OMIM:PS607014"^^xsd:string, "ORDO:79213"^^xsd:string, "SNOMEDCT_US_2021_03_01:267452003"^^xsd:string, "UMLS_CUI:C0026703"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12798"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "mucopolysaccharidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_12799 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."^^xsd:string ; oboInOwl:hasDbXref "GARD:6675"^^xsd:string, "ICD10CM:E76.1"^^xsd:string, "MESH:D016532"^^xsd:string, "NCI:C61260"^^xsd:string, "OMIM:309900"^^xsd:string, "SNOMEDCT_US_2021_03_01:190936000"^^xsd:string, "UMLS_CUI:C0026705"^^xsd:string ; oboInOwl:hasExactSynonym "Hunter syndrome"@en, "Hunter's syndrome"@en, "MPS II - Hunter syndrome"@en, "Mucopolysaccharidosis, MPS-II"@en, "deficiency of iduronate-2-sulphatase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "mucopolysaccharidosis II"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_128 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:128"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vaginal soft tissue tumor"^^xsd:string ; owl:deprecated true . obo:DOID_12800 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase."^^xsd:string ; oboInOwl:hasDbXref "GARD:7095"^^xsd:string, "MESH:D009087"^^xsd:string, "NCI:C61264"^^xsd:string, "OMIM:253200"^^xsd:string, "SNOMEDCT_US_2021_03_01:69463008"^^xsd:string, "UMLS_CUI:C0026709"^^xsd:string ; oboInOwl:hasExactSynonym "MPS VI - Maroteaux-Lamy syndrome"@en, "Maroteaux - Lamy syndrome"@en, "Maroteaux-Lamy syndrome"@en, "arylsulfatase B deficiency"@en, "deficiency of N-acetylgalactosamine-4-sulfatase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis VI"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12801 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14729"^^xsd:string, "DOID:14788"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009084"^^xsd:string, "NCI:C61262"^^xsd:string, "OMIM:252940"^^xsd:string, "ORDO:581"^^xsd:string, "SNOMEDCT_US_2021_03_01:190936000"^^xsd:string, "UMLS_CUI:C0026706"^^xsd:string ; oboInOwl:hasExactSynonym "Mucopolysaccharidosis, MPS-III"@en, "N-sulphoglucosamine sulphohydrolase deficiency"@en, "Sanfilippo's syndrome"@en, "heparan sulfate sulfatase deficiency"@en ; oboInOwl:hasNarrowSynonym "naglu deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis III"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12802 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase."^^xsd:string ; oboInOwl:hasDbXref "GARD:10335"^^xsd:string, "ICD10CM:E76.0"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C85053"^^xsd:string, "SNOMEDCT_US_2021_03_01:267453008"^^xsd:string, "UMLS_CUI:C0023786"^^xsd:string ; oboInOwl:hasExactSynonym "Hurler syndrome"@en, "Hurler-Scheie syndrome"@en, "Lipochondrodystrophy"@en, "MPS I - Hurler syndrome"@en, "Mucopolysaccharidosis, MPS-I"@en, "Mucopolysaccharidosis, type 1"@en, "iduronidase deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12802"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucopolysaccharidosis I"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12803 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.29"^^xsd:string, "MESH:D016538"^^xsd:string, "NCI:C84903"^^xsd:string, "OMIM:253220"^^xsd:string, "SNOMEDCT_US_2021_03_01:43916004"^^xsd:string, "UMLS_CUI:C0085132"^^xsd:string ; oboInOwl:hasExactSynonym "MPS VII - Sly syndrome"@en, "beta-glucuronidase deficiency"@en, "deficiency of beta-glucuronidase"@en, "mucopolysaccharidosis VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12803"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Sly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12804 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050808"^^xsd:string, "DOID:14767"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.219"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C61263"^^xsd:string, "SNOMEDCT_US_2021_03_01:378007"^^xsd:string, "UMLS_CUI:C0026707"^^xsd:string ; oboInOwl:hasExactSynonym "Mucopolysaccharidosis, MPS-IV"@en, "deficiency of N-acetylgalactosamine-6-sulphatase"@en, "deficiency of chondroitinsulphatase"@en, "galactosamine-6-sulfatase deficiency"@en ; oboInOwl:hasNarrowSynonym "Osteochondrodystrophy"@en, "chondroosteodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12804"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis IV"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12809 oboInOwl:hasDbXref "ICD10CM:H04.03"^^xsd:string, "ICD9CM:375.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:4839005"^^xsd:string, "UMLS_CUI:C1300133"^^xsd:string ; oboInOwl:hasExactSynonym "chronic enlargement of lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12809"^^xsd:string ; a owl:Class ; rdfs:label "chronic lacrimal gland enlargement"^^xsd:string ; rdfs:subClassOf obo:DOID_950, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_12819 obo:IAO_0000115 "A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to clostridium difficile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12819"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Clostridium difficile intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1283 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K46"^^xsd:string, "ICD9CM:618.6"^^xsd:string, "MESH:D006547"^^xsd:string, "SNOMEDCT_US_2021_03_01:47671001"^^xsd:string, "UMLS_CUI:C0205792"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal enterocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1283"^^xsd:string ; a owl:Class ; rdfs:label "enterocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_12835 oboInOwl:hasDbXref "ICD10CM:G82.5"^^xsd:string, "ICD9CM:344.00"^^xsd:string, "MESH:D011782"^^xsd:string, "NCI:C50721"^^xsd:string, "SNOMEDCT_US_2021_03_01:11538006"^^xsd:string, "UMLS_CUI:C0034372"^^xsd:string ; oboInOwl:hasExactSynonym "tetraplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12835"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "quadriplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_12836 oboInOwl:hasDbXref "ICD9CM:374.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:55408009"^^xsd:string, "UMLS_CUI:C0155188"^^xsd:string ; oboInOwl:hasExactSynonym "Involutional entropion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12836"^^xsd:string ; a owl:Class ; rdfs:label "senile entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_12837 oboInOwl:hasDbXref "MESH:D013958"^^xsd:string, "NCI:C112836"^^xsd:string, "SNOMEDCT_US_2021_03_01:190262002"^^xsd:string, "UMLS_CUI:C0040127"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid crisis"@en, "Thyrotoxic crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12837"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid crisis"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_12838 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12838"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary thyroid hyperplasia"^^xsd:string ; owl:deprecated true . obo:DOID_12839 oboInOwl:hasAlternativeId "DOID:12943"^^xsd:string, "DOID:12944"^^xsd:string ; oboInOwl:hasExactSynonym "Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm"@en, "Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm"@en, "hyperthyroidism due to ectopic thyroid nodule (disorder)"@en, "thyrotoxicosis from ectopic thyroid nodule with crisis"@en, "thyrotoxicosis from ectopic thyroid nodule with no crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12839"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyrotoxicosis from ectopic thyroid nodule"^^xsd:string ; owl:deprecated true . obo:DOID_1284 obo:IAO_0000115 "A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:618.8"^^xsd:string, "UMLS_CUI:C0029801"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1284"^^xsd:string ; a owl:Class ; rdfs:label "prolapse of female genital organ"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_12840 obo:IAO_0000115 "An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine."^^xsd:string ; oboInOwl:hasExactSynonym "Ancylostomiasis due to Ancylostoma ceylonicum (disorder)"@en, "Ancylostomiasis due to ancylostoma ceylanicum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12840"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma ceylanicum ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_12841 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition."^^xsd:string ; oboInOwl:hasDbXref "GARD:9742"^^xsd:string, "ICD10CM:B76.0"^^xsd:string, "MESH:D000724"^^xsd:string, "NCI:C35805"^^xsd:string, "SNOMEDCT_US_2021_03_01:85807000"^^xsd:string, "UMLS_CUI:C0002831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ancylostomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_5614, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002075 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29169 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000208 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D000724"^^xsd:string . obo:DOID_12842 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:6554"^^xsd:string, "ICD10CM:G61.0"^^xsd:string, "MESH:D020275"^^xsd:string, "NCI:C116345"^^xsd:string, "OMIM:139393"^^xsd:string, "SNOMEDCT_US_2021_03_01:155082001"^^xsd:string, "UMLS_CUI:C0018378"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious neuronitis"@en, "Post-infectious polyneuritis"@en, "Postinfectious polyneuritis"@en, "acute infective polyneuritis"@en, "acute inflammatory demyelinating polyradiculopathy"^^xsd:string, "acute postinfectious polyneuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12842"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Guillain-Barre syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_12843 oboInOwl:hasExactSynonym "Polyneuritis (disorder)"@en, "multiple peripheral neuritis"@en, "polyneuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12843"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyneuritis"^^xsd:string ; owl:deprecated true . obo:DOID_12849 obo:IAO_0000115 "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003758"^^xsd:string, "ICD10CM:F84.0"^^xsd:string, "ICD9CM:299.0"^^xsd:string, "MESH:D001321"^^xsd:string, "NCI:C97161"^^xsd:string, "OMIM:209850"^^xsd:string, "ORDO:106"^^xsd:string, "SNOMEDCT_US_2021_03_01:38763009"^^xsd:string, "UMLS_CUI:C0004352"^^xsd:string ; oboInOwl:hasExactSynonym "Kanner's syndrome"@en, "autism"@en, "autistic disorder of childhood onset"@en, "childhood autism"@en, "infantile autism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12849"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "autistic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000750 ] . obo:DOID_1285 oboInOwl:hasDbXref "MESH:D012002"^^xsd:string, "SNOMEDCT_US_2021_03_01:5964004"^^xsd:string, "UMLS_CUI:C0034882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1285"^^xsd:string ; a owl:Class ; rdfs:label "rectal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_12852 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12852"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to incus"^^xsd:string ; owl:deprecated true . obo:DOID_12853 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12853"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to promontorium"^^xsd:string ; owl:deprecated true . obo:DOID_12854 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12854"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to stapes"^^xsd:string ; owl:deprecated true . obo:DOID_12857 oboInOwl:hasDbXref "ICD10CM:M76.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:202879008"^^xsd:string, "UMLS_CUI:C0149846"^^xsd:string ; oboInOwl:hasExactSynonym "Achilles bursitis or tendinitis"@en, "Capped hock"@en, "Haglund's deformity"@en, "Haglund's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12857"^^xsd:string ; a owl:Class ; rdfs:label "Achilles bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2965 . obo:DOID_12858 obo:IAO_0000115 "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities."^^xsd:string ; oboInOwl:hasDbXref "GARD:6677"^^xsd:string, "ICD10CM:G10"^^xsd:string, "ICD9CM:333.4"^^xsd:string, "KEGG:05016"^^xsd:string, "MESH:D006816"^^xsd:string, "NCI:C82342"^^xsd:string, "OMIM:143100"^^xsd:string, "SNOMEDCT_US_2021_03_01:58756001"^^xsd:string, "UMLS_CUI:C0020179"^^xsd:string ; oboInOwl:hasExactSynonym "HD"@en, "Huntington disease"@en, "Huntington's chorea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12858"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Huntington's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_12859 obo:IAO_0000115 "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.5"^^xsd:string, "OMIM:118700"^^xsd:string, "OMIM:215450"^^xsd:string, "ORDO:1429"^^xsd:string ; oboInOwl:hasExactSynonym "chorea"@en, "hereditary chorea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12859"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "choreatic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_12860 oboInOwl:hasExactSynonym "Non-neoplastic nevus"@en, "Non-neoplastic nevus (disorder)"@en, "Non-neoplastic nevus NOS (disorder)"@en, "Non-neoplastic nevus of skin (disorder)"@en, "Non-neoplastic nevus of skin (disorder) [Ambiguous]"@en, "nevus, non-neoplastic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12860"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-neoplastic nevus of skin"^^xsd:string ; owl:deprecated true . obo:DOID_12863 oboInOwl:hasExactSynonym "Senile naevus"@en, "Senile nevus"@en, "Senile nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12863"^^xsd:string ; a owl:Class ; rdfs:label "obsolete senile nevus"^^xsd:string ; owl:deprecated true . obo:DOID_12864 oboInOwl:hasExactSynonym "Acrosyringeal nevus"@en, "Acrosyringeal nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12864"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acrosyringeal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_1287 obo:IAO_0000115 "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:73"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:429.2"^^xsd:string, "MESH:D002318"^^xsd:string, "NCI:C2931"^^xsd:string, "SNOMEDCT_US_2021_03_01:266275004"^^xsd:string, "UMLS_CUI:C0007222"^^xsd:string ; oboInOwl:hasExactSynonym "disease of subdivision of hemolymphoid system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1287"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiovascular system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_12879 oboInOwl:hasExactSynonym "Exudative cyst of pars plana"@en, "Exudative cyst of pars plana (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12879"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pars plana exudative cyst"^^xsd:string ; owl:deprecated true . obo:DOID_12881 oboInOwl:hasExactSynonym "Idiopathic urticaria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12881"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic urticaria"^^xsd:string ; owl:deprecated true . obo:DOID_12883 obo:IAO_0000115 "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F45.21"^^xsd:string, "ICD9CM:300.7"^^xsd:string, "MESH:D006998"^^xsd:string, "NCI:C9493"^^xsd:string, "SNOMEDCT_US_2021_03_01:18193002"^^xsd:string, "UMLS_CUI:C0020604"^^xsd:string ; oboInOwl:hasExactSynonym "Hypochondria"@en, "Hypochondriacal disorder"@en, "hypochondriacal neurosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12883"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypochondriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_12888 obo:IAO_0000115 "An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum."^^xsd:string ; oboInOwl:hasExactSynonym "Ornithosis with pneumonia"@en, "Ornithosis with pneumonia (disorder)"@en, "louisiana pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12888"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila psittaci pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12889 obo:IAO_0000115 "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia."^^xsd:string ; oboInOwl:hasDbXref "GARD:3668"^^xsd:string, "ICD10CM:G61.0"^^xsd:string, "MESH:D019846"^^xsd:string, "NCI:C116958"^^xsd:string, "SNOMEDCT_US_2021_03_01:1767005"^^xsd:string, "UMLS_CUI:C0393799"^^xsd:string ; oboInOwl:hasExactSynonym "Fisher's syndrome"@en, "Miller-Fisher variant of Guillain-Barre syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12889"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Miller Fisher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12842 . obo:DOID_1289 obo:IAO_0000115 "A central nervous system disease that results in the progressive deterioration of function or structure of neurons."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4874"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G31.9"^^xsd:string, "MESH:D019636"^^xsd:string, "NCI:C27090"^^xsd:string, "SNOMEDCT_US_2021_03_01:362975008"^^xsd:string, "UMLS_CUI:C0524851"^^xsd:string, "UMLS_CUI:C1285162"^^xsd:string ; oboInOwl:hasExactSynonym "Neurodegenerative disease"@en, "degenerative disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1289"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurodegenerative disease"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_12894 obo:IAO_0000115 "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:416"^^xsd:string ; oboInOwl:hasDbXref "GARD:10252"^^xsd:string, "ICD10CM:M35.0"^^xsd:string, "ICD10CM:M35.00"^^xsd:string, "ICD9CM:710.2"^^xsd:string, "MESH:D012859"^^xsd:string, "NCI:C26883"^^xsd:string, "NCI:C70647"^^xsd:string, "OMIM:270150"^^xsd:string, "SNOMEDCT_US_2021_03_01:267875002"^^xsd:string, "SNOMEDCT_US_2021_03_01:83901003"^^xsd:string, "UMLS_CUI:C0086981"^^xsd:string, "UMLS_CUI:C1527336"^^xsd:string ; oboInOwl:hasExactSynonym "Sicca syndrome"@en, "Sjogren syndrome"@en, "xerodermosteosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12894"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Sjogren's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060029, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002330 ] . obo:DOID_12895 oboInOwl:hasDbXref "GARD:8444"^^xsd:string, "MESH:D007638"^^xsd:string, "SNOMEDCT_US_2021_03_01:78946008"^^xsd:string, "UMLS_CUI:C0022575"^^xsd:string ; oboInOwl:hasExactSynonym "KCS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12895"^^xsd:string ; a owl:Class ; rdfs:label "keratoconjunctivitis sicca"^^xsd:string ; rdfs:subClassOf obo:DOID_10140 . obo:DOID_12897 oboInOwl:hasDbXref "MESH:D013364"^^xsd:string, "UMLS_CUI:C0038557"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12897"^^xsd:string ; a owl:Class ; rdfs:label "submandibular gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001736 ] ) ] . obo:DOID_12899 oboInOwl:hasDbXref "ICD10CM:K11.8"^^xsd:string, "NCI:C3949"^^xsd:string, "SNOMEDCT_US_2021_03_01:45517002"^^xsd:string, "UMLS_CUI:C0266995"^^xsd:string ; oboInOwl:hasExactSynonym "Godwin tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12899"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign lymphoepithelial lesion of salivary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12900 obo:IAO_0000115 "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:7043"^^xsd:string, "ICD10CM:K11.8"^^xsd:string, "MESH:D008882"^^xsd:string, "NCI:C34819"^^xsd:string, "SNOMEDCT_US_2021_03_01:7826003"^^xsd:string, "UMLS_CUI:C0026103"^^xsd:string ; oboInOwl:hasExactSynonym "IgG4-related dacryoadenitis and sialadenitis"@en, "Mikulicz's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12900"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mikulicz disease"^^xsd:string ; rdfs:subClassOf obo:DOID_417 . obo:DOID_12901 oboInOwl:hasDbXref "ICD10CM:K11.8"^^xsd:string, "MESH:D012797"^^xsd:string, "SNOMEDCT_US_2021_03_01:109769000"^^xsd:string, "UMLS_CUI:C0037033"^^xsd:string ; oboInOwl:hasExactSynonym "Necrotizing sialometaplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12901"^^xsd:string ; a owl:Class ; rdfs:label "necrotizing sialometaplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12904 oboInOwl:hasDbXref "ICD10CM:K11.6"^^xsd:string, "ICD9CM:527.6"^^xsd:string, "NCI:C27649"^^xsd:string, "SNOMEDCT_US_2021_03_01:196508008"^^xsd:string, "UMLS_CUI:C0026686"^^xsd:string ; oboInOwl:hasExactSynonym "Mucous retention cyst of salivary gland"@en, "Ranula"@en, "Salivary Cyst"@en, "Salivary gland mucocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12904"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucocele of salivary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12905 oboInOwl:hasDbXref "ICD10CM:K11.5"^^xsd:string, "ICD9CM:527.5"^^xsd:string, "MESH:D015494"^^xsd:string, "SNOMEDCT_US_2021_03_01:155656006"^^xsd:string, "UMLS_CUI:C0036091"^^xsd:string ; oboInOwl:hasExactSynonym "Salivary gland Stone"@en, "Sialolith"@en, "Stone of salivary gland or duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12905"^^xsd:string ; a owl:Class ; rdfs:label "sialolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12910 oboInOwl:hasExactSynonym "Sickle cell-hemoglobin C disease with crisis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12910"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sickle-cell/Hb-C disease with crisis"^^xsd:string ; owl:deprecated true . obo:DOID_12918 oboInOwl:hasDbXref "ICD10CM:I73.1"^^xsd:string, "ICD9CM:443.1"^^xsd:string, "MESH:D013919"^^xsd:string, "NCI:C35070"^^xsd:string, "OMIM:211480"^^xsd:string, "SNOMEDCT_US_2021_03_01:195298008"^^xsd:string, "UMLS_CUI:C0040021"^^xsd:string ; oboInOwl:hasExactSynonym "Buerger's disease"@en, "Presenile gangrene"@en, "Thromboangiitis obliterans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12918"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thromboangiitis obliterans"^^xsd:string ; rdfs:subClassOf obo:DOID_341, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000593 ] . obo:DOID_12919 obo:IAO_0000115 "A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B53.0"^^xsd:string, "ICD9CM:084.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:19341001"^^xsd:string, "UMLS_CUI:C0152072"^^xsd:string ; oboInOwl:hasExactSynonym "Malariaby Plasmodium ovale"@en, "Ovale malaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12919"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Plasmodium ovale malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_36330 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_12365 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_36330 ] ) ] . obo:DOID_12921 oboInOwl:hasExactSynonym "Schizophrenic syndrome of childhood NOS"@en, "childhood Schizophrenia"@en, "childhood schizophrenia"@en, "childhood schizophrenia NOS"@en, "childhood schizophrenia NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12921"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_12922 oboInOwl:hasExactSynonym "acute schizophrenic episode"@en, "acute schizophrenic episode (disorder)"@en, "acute schizophrenic episode, unspecified state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12922"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute undifferentiated schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_12923 oboInOwl:hasExactSynonym "Unspecified schizophrenia, chronic state"@en, "chronic undifferentiated schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12923"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic undifferentiated schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_12926 obo:IAO_0000115 "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful."^^xsd:string ; oboInOwl:hasDbXref "GARD:2883"^^xsd:string, "MESH:D007000"^^xsd:string, "UMLS_CUI:C0020607"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12926"^^xsd:string ; a owl:Class ; rdfs:label "hypodermyiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_11080 . obo:DOID_12927 obo:IAO_0000115 "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012610"^^xsd:string, "UMLS_CUI:C0036465"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12927"^^xsd:string ; a owl:Class ; rdfs:label "screw worm infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11080 . obo:DOID_12928 oboInOwl:hasExactSynonym "Nutritional and metabolic cardiomyopathies (disorder)"@en, "Nutritional and metabolic cardiomyopathy NOS"@en, "Nutritional and metabolic cardiomyopathy NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12928"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nutritional cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_12929 obo:IAO_0000115 "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers."^^xsd:string ; oboInOwl:hasDbXref "GARD:2121"^^xsd:string, "GARD:6336"^^xsd:string, "ICD10CM:I42.4"^^xsd:string, "ICD9CM:425.3"^^xsd:string, "MESH:D004695"^^xsd:string, "NCI:C98922"^^xsd:string, "OMIM:226000"^^xsd:string, "SNOMEDCT_US_2021_03_01:65457005"^^xsd:string, "UMLS_CUI:C0014117"^^xsd:string ; oboInOwl:hasExactSynonym "Elastomyofibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "endocardial fibroelastosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050825 ; skos:exactMatch "MESH:D004695"^^xsd:string . obo:DOID_1293 obo:IAO_0000115 "A vulva carcinoma that is located_in the labia minora."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9364"^^xsd:string, "UMLS_CUI:C1334357"^^xsd:string ; oboInOwl:hasExactSynonym "Labia Minora cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of labia minora"@en ; oboInOwl:id "DOID:1293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labia minora carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294 . obo:DOID_12930 obo:IAO_0000115 "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000407"^^xsd:string, "GARD:221"^^xsd:string, "ICD10CM:I42.0"^^xsd:string, "KEGG:05414"^^xsd:string, "MESH:D002311"^^xsd:string, "NCI:C84673"^^xsd:string, "OMIM:PS115200"^^xsd:string, "ORDO:217604"^^xsd:string, "SNOMEDCT_US_2021_03_01:74368002"^^xsd:string, "UMLS_CUI:C0007193"^^xsd:string ; oboInOwl:hasExactSynonym "primary dilated cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Congestive cardiomyopathy"@en, "Familial dilated cardiomyopathy"^^xsd:string, "Familial dilated cardiomyopathy"@en, "Idiopathic dilation cardiomyopathy"^^xsd:string, "Idiopathic dilation cardiomyopathy"@en ; oboInOwl:id "DOID:12930"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "dilated cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_12932 oboInOwl:hasDbXref "GARD:6340"^^xsd:string, "ICD9CM:425.0"^^xsd:string, "MESH:D004719"^^xsd:string, "NCI:C34585"^^xsd:string, "SNOMEDCT_US_2021_03_01:111507009"^^xsd:string, "UMLS_CUI:C0553980"^^xsd:string ; oboInOwl:hasExactSynonym "African endomyocardial fibrosis"@en, "Becker's disease"@en, "Endomyocardial sclerosis"@en, "Obscure African cardiomyopathy"@en, "obscure African cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12932"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endomyocardial fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_12934 oboInOwl:hasDbXref "GARD:6817"^^xsd:string, "ICD10CM:H49.81"^^xsd:string, "MESH:D007625"^^xsd:string, "NCI:C84798"^^xsd:string, "OMIM:530000"^^xsd:string, "SNOMEDCT_US_2021_03_01:25792000"^^xsd:string, "UMLS_CUI:C0022541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Kearns-Sayre syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12558 . obo:DOID_12935 oboInOwl:hasDbXref "ICD10CM:I42.6"^^xsd:string, "ICD9CM:425.5"^^xsd:string, "MESH:D002310"^^xsd:string, "NCI:C53653"^^xsd:string, "SNOMEDCT_US_2021_03_01:83521008"^^xsd:string, "UMLS_CUI:C0007192"^^xsd:string ; oboInOwl:hasExactSynonym "Alcohol-induced heart muscle disease"@en, "Alcoholic cardiomyopathy"@en, "Dilated cardiomyopathy secondary to alcohol"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12935"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_3978, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_12936 oboInOwl:hasExactSynonym "secondary cardiomyopathy (disorder)"@en, "secondary cardiomyopathy NOS"@en, "secondary cardiomyopathy NOS (disorder)"@en, "secondary cardiomyopathy, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12936"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_1294 obo:IAO_0000115 "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4866"^^xsd:string, "UMLS_CUI:C0677055"^^xsd:string ; oboInOwl:hasExactSynonym "Vulvar carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of vulva"@en ; oboInOwl:id "DOID:1294"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1245, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_12958 oboInOwl:hasDbXref "ICD10CM:H02.23"^^xsd:string, "ICD9CM:374.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193938000"^^xsd:string, "UMLS_CUI:C0155197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12958"^^xsd:string ; a owl:Class ; rdfs:label "paralytic lagophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_12959 . obo:DOID_12959 oboInOwl:hasDbXref "ICD10CM:H02.2"^^xsd:string, "ICD9CM:374.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:193936001"^^xsd:string, "UMLS_CUI:C0152226"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12959"^^xsd:string ; a owl:Class ; rdfs:label "lagophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_12960 obo:IAO_0000115 "A synostosis that results_in craniosynostosis and syndactyly."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080004"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:755.55"^^xsd:string, "MESH:D000168"^^xsd:string, "NCI:C34348"^^xsd:string, "OMIM:101200"^^xsd:string, "SNOMEDCT_US_2021_03_01:63661009"^^xsd:string, "UMLS_CUI:C1510455"^^xsd:string ; oboInOwl:hasExactSynonym "Apert syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12960"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrocephalosyndactylia"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 ; skos:exactMatch "MESH:D000168"^^xsd:string . obo:DOID_12961 oboInOwl:hasDbXref "GARD:7412"^^xsd:string, "ICD10CM:Q79.8"^^xsd:string, "MESH:D011045"^^xsd:string, "NCI:C85017"^^xsd:string, "OMIM:173800"^^xsd:string, "SNOMEDCT_US_2021_03_01:205524002"^^xsd:string, "UMLS_CUI:C0032357"^^xsd:string ; oboInOwl:hasExactSynonym "Poland's syndactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12961"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Poland syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_12965 obo:IAO_0000115 "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12965"^^xsd:string ; a owl:Class ; rdfs:label "subleukemic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_12969 obo:IAO_0000115 "A hematologic cancer located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5440"^^xsd:string, "UMLS_CUI:C1332884"^^xsd:string ; oboInOwl:hasExactSynonym "Leukemia of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12969"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_3620, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000081 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_12971 obo:IAO_0000115 "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape."^^xsd:string ; oboInOwl:hasDbXref "GARD:6639"^^xsd:string, "ICD10CM:D58.0"^^xsd:string, "ICD9CM:282.0"^^xsd:string, "MESH:D013103"^^xsd:string, "NCI:C97074"^^xsd:string, "ORDO:822"^^xsd:string, "SNOMEDCT_US_2021_03_01:154795009"^^xsd:string, "UMLS_CUI:C0037889"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital spherocytic hemolytic anemia"@en, "Minkowski Chauffard syndrome"@en, "spherocytic anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12971"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hereditary spherocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_589 . obo:DOID_12972 oboInOwl:hasDbXref "ICD9CM:202.46"^^xsd:string, "SNOMEDCT_US_2021_03_01:188650008"^^xsd:string, "UMLS_CUI:C0153831"^^xsd:string ; oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving intrapelvic lymph nodes"@en, "Leukemic reticuloendotheliosis of intrapelvic lymph nodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12972"^^xsd:string ; a owl:Class ; rdfs:label "intrapelvic lymph node leukemic reticuloendotheliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10619 . obo:DOID_12973 oboInOwl:hasExactSynonym "metastasis to intrapelvic lymph node"@en, "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes"@en, "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder)"@en, "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder)"@en, "secondary malignant neoplasm of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12973"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of intrapelvic lymph node"^^xsd:string ; owl:deprecated true . obo:DOID_12978 obo:IAO_0000115 "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B51"^^xsd:string, "ICD9CM:084.1"^^xsd:string, "MESH:D016780"^^xsd:string, "NCI:C34800"^^xsd:string, "SNOMEDCT_US_2021_03_01:27052006"^^xsd:string, "UMLS_CUI:C0024537"^^xsd:string ; oboInOwl:hasExactSynonym "Malaria by Plasmodium vivax"@en, "Vivax Malaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12978"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Plasmodium vivax malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5855 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_12365 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5855 ] ) ] . obo:DOID_12983 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12983"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transient disorder of initiating or maintaining sleep"^^xsd:string ; owl:deprecated true . obo:DOID_12984 oboInOwl:hasDbXref "NCI:C5831"^^xsd:string, "SNOMEDCT_US_2021_03_01:126976007"^^xsd:string, "UMLS_CUI:C1263901"^^xsd:string ; oboInOwl:hasExactSynonym "Vagus nerve tumors"@en, "neoplasm of vagus nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12984"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagus nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_12985 oboInOwl:hasExactSynonym "Functional disorder of polymorphonuclear neutrophils (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12985"^^xsd:string ; a owl:Class ; rdfs:label "obsolete functional disorder of polymorphonuclear neutrophils"^^xsd:string ; owl:deprecated true . obo:DOID_12986 oboInOwl:hasDbXref "MESH:D018921"^^xsd:string, "NCI:C4062"^^xsd:string, "SNOMEDCT_US_2021_03_01:30419000"^^xsd:string, "UMLS_CUI:C0282548"^^xsd:string ; oboInOwl:hasExactSynonym "Leukostasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12986"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukostasis"^^xsd:string ; rdfs:subClassOf obo:DOID_9500 . obo:DOID_12987 obo:IAO_0000115 "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D70"^^xsd:string, "MESH:D000380"^^xsd:string, "SNOMEDCT_US_2021_03_01:154830007"^^xsd:string, "UMLS_CUI:C0001824"^^xsd:string ; oboInOwl:hasExactSynonym "Granulocytopenic disorder"@en, "Granulopenia"@en, "granulocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12987"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "agranulocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_615, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001911 ] ; skos:exactMatch "MESH:D000380"^^xsd:string . obo:DOID_12995 obo:IAO_0000115 "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004216"^^xsd:string, "ICD10CM:F91"^^xsd:string, "ICD9CM:312.9"^^xsd:string, "MESH:D019955"^^xsd:string, "NCI:C89329"^^xsd:string, "SNOMEDCT_US_2021_03_01:430909002"^^xsd:string, "UMLS_CUI:C0149654"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12995"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conduct disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_12996 oboInOwl:hasDbXref "ICD10CM:H04.32"^^xsd:string, "ICD9CM:375.32"^^xsd:string, "SNOMEDCT_US_2021_03_01:193986007"^^xsd:string, "UMLS_CUI:C0155237"^^xsd:string ; oboInOwl:hasExactSynonym "Dacryocystitis - acute"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12996"^^xsd:string ; a owl:Class ; rdfs:label "acute dacryocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9938 . obo:DOID_12997 oboInOwl:hasDbXref "ICD10CM:H04.31"^^xsd:string, "ICD9CM:375.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:193988008"^^xsd:string, "UMLS_CUI:C0155238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12997"^^xsd:string ; a owl:Class ; rdfs:label "Phlegmonous dacryocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9938 . obo:DOID_130 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:130"^^xsd:string ; a owl:Class ; rdfs:label "obsolete female genitalia nevus"^^xsd:string ; owl:deprecated true . obo:DOID_13001 oboInOwl:hasDbXref "MESH:D016893"^^xsd:string, "NCI:C95804"^^xsd:string, "SNOMEDCT_US_2021_03_01:195181000"^^xsd:string, "UMLS_CUI:C0007282"^^xsd:string ; oboInOwl:hasExactSynonym "Carotid artery stenosis"@en, "Stenosis, carotid artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carotid stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3407 . obo:DOID_13002 oboInOwl:hasDbXref "ICD9CM:435.2"^^xsd:string, "MESH:D013349"^^xsd:string, "NCI:C35044"^^xsd:string, "SNOMEDCT_US_2021_03_01:15258001"^^xsd:string, "UMLS_CUI:C0038531"^^xsd:string ; oboInOwl:hasExactSynonym "Subclavian artery stenosis"@en, "subclavian steal phenomenon"@en, "subclavian steal steno-occlusive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subclavian steal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_13003 oboInOwl:hasDbXref "ICD10CM:G45.0"^^xsd:string, "ICD9CM:435.3"^^xsd:string, "MESH:D014715"^^xsd:string, "SNOMEDCT_US_2021_03_01:195196001"^^xsd:string, "UMLS_CUI:C0042568"^^xsd:string ; oboInOwl:hasExactSynonym "Vertebro-basilar insufficiency"@en, "Vertebrobasilar arterial insufficiency"@en, "Vertebrobasilar artery syndrome"@en, "Vertebrobasilar insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13003"^^xsd:string ; a owl:Class ; rdfs:label "vertebrobasilar insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_224 ; skos:exactMatch "MESH:D014715"^^xsd:string . obo:DOID_13005 oboInOwl:hasDbXref "ICD9CM:202.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:188664008"^^xsd:string, "UMLS_CUI:C0153844"^^xsd:string ; oboInOwl:hasExactSynonym "Mast cell malignancy of intra-abdominal lymph nodes"@en, "malignant mast cell tumors involving intra-abdominal lymph nodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13005"^^xsd:string ; a owl:Class ; rdfs:label "intra-abdominal lymph node mast cell malignancy"^^xsd:string ; rdfs:subClassOf obo:DOID_10619, obo:DOID_3664, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] . obo:DOID_1301 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1330"^^xsd:string, "DOID:1337"^^xsd:string, "DOID:14084"^^xsd:string, "DOID:1892"^^xsd:string, "DOID:2872"^^xsd:string, "DOID:995"^^xsd:string ; oboInOwl:hasExactSynonym "Hemorrhagic Fever"@en, "Mite-Born Hemorrhagic Fever"@en, "Mite-borne hemorrhagic fever (disorder)"@en, "Mosquito-borne haemorrhagic fever"@en, "Mosquito-borne hemorrhagic fever"@en, "Mosquito-borne hemorrhagic fever (disorder)"@en, "Rodent-borne hemorrhagic fever (disorder)"@en, "Unspecified viral haemorrhagic fever"@en, "Unspecified viral hemorrhagic fever (disorder)"@en, "Viral Hemorrhagic Fever"@en, "Viral hemorrhagic fever (disorder)"@en, "arbovirus hemorrhagic fever"@en, "hemorrhagic fever"@en, "mite-borne hemorrhagic fever"@en, "mosquito-borne hemorrhagic fever"@en, "rodent-borne hemorrhagic fever"@en, "tick-borne hemorrhagic fever"@en, "viral hemorrhagic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete RNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13014 oboInOwl:hasDbXref "ICD10CM:B30.0"^^xsd:string, "ICD9CM:077.1"^^xsd:string, "NCI:C34590"^^xsd:string, "SNOMEDCT_US_2021_03_01:60548004"^^xsd:string, "UMLS_CUI:C0014493"^^xsd:string ; oboInOwl:hasExactSynonym "EKC"@en, "Epidemic keratoconjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13014"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "shipyard eye"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_13019 obo:IAO_0000115 "A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain."^^xsd:string ; oboInOwl:hasExactSynonym "Cryptococcal Gastroenteritis"@en, "Cryptococcal gastroenteritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cryptococcal gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_13020 obo:IAO_0000115 "A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing."^^xsd:string ; oboInOwl:hasExactSynonym "Cryptococcal Pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary cryptococcosis"^^xsd:string ; owl:deprecated true . obo:DOID_13021 obo:IAO_0000115 "A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13021"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cryptococcosis"^^xsd:string ; owl:deprecated true . obo:DOID_13023 oboInOwl:hasExactSynonym "Haemoglobin S trait"@en, "Hb-S trait"@en, "Sickle cell trait (disorder)"@en, "Sickle-cell trait"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13023"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sickle cell trait"^^xsd:string ; owl:deprecated true . obo:DOID_13025 oboInOwl:hasDbXref "GARD:5695"^^xsd:string, "ICD10CM:H35.1"^^xsd:string, "ICD9CM:362.21"^^xsd:string, "MESH:D012178"^^xsd:string, "NCI:C34982"^^xsd:string, "SNOMEDCT_US_2021_03_01:155110004"^^xsd:string, "UMLS_CUI:C0035344"^^xsd:string ; oboInOwl:hasExactSynonym "Retrolental fibroplasia"@en, "premature retinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13025"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinopathy of prematurity"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_13026 obo:IAO_0000115 "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B48.0"^^xsd:string, "ICD9CM:116.2"^^xsd:string, "MESH:D060368"^^xsd:string, "SNOMEDCT_US_2021_03_01:47306003"^^xsd:string, "UMLS_CUI:C0152066"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous lobomycosis"@en, "infection by Loboa loboi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Cutaneous blastomycosis"@en ; oboInOwl:id "DOID:13026"^^xsd:string ; a owl:Class ; rdfs:label "lobomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_121752 ] . obo:DOID_13027 obo:IAO_0000115 "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories."^^xsd:string ; oboInOwl:hasDbXref "GARD:8172"^^xsd:string, "ICD10CM:G45.4"^^xsd:string, "ICD9CM:437.7"^^xsd:string, "MESH:D020236"^^xsd:string, "NCI:C85198"^^xsd:string, "SNOMEDCT_US_2021_03_01:366963000"^^xsd:string, "UMLS_CUI:C0338591"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13027"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient global amnesia"^^xsd:string ; rdfs:subClassOf obo:DOID_10914 . obo:DOID_13031 oboInOwl:hasDbXref "ICD10CM:N47.6"^^xsd:string, "ICD9CM:607.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:198020004"^^xsd:string, "UMLS_CUI:C0004691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13031"^^xsd:string ; a owl:Class ; rdfs:label "balanoposthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1529 . obo:DOID_13032 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal balanoposthitis (disorder)"@en, "Trichomonal balanoposthitis [Ambiguous]"@en, "Trichomonas Balanoposthitis"@en, "trichomonal balanoposthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13032"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas balanoposthitis"^^xsd:string ; owl:deprecated true . obo:DOID_13033 oboInOwl:hasDbXref "ICD10CM:N48.1"^^xsd:string, "MESH:D001446"^^xsd:string, "NCI:C26705"^^xsd:string, "SNOMEDCT_US_2021_03_01:155928003"^^xsd:string, "UMLS_CUI:C0004690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13033"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balanitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1529 . obo:DOID_13034 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A68"^^xsd:string, "ICD9CM:087"^^xsd:string, "MESH:D012061"^^xsd:string, "SNOMEDCT_US_2021_03_01:186820006"^^xsd:string, "UMLS_CUI:C0035021"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13034"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "relapsing fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_138 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_13035 obo:IAO_0000115 "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A68.0"^^xsd:string, "ICD9CM:087.0"^^xsd:string, "MESH:D012061"^^xsd:string, "NCI:C128426"^^xsd:string, "SNOMEDCT_US_2021_03_01:14683004"^^xsd:string, "UMLS_CUI:C0152061"^^xsd:string ; oboInOwl:hasExactSynonym "Louse-borne relapsing fever"@en, "Relapsing fever, louse-borne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13035"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "louse-borne relapsing fever"^^xsd:string ; rdfs:subClassOf obo:DOID_13034, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_121225 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_13036 obo:IAO_0000115 "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A68.1"^^xsd:string, "ICD9CM:087.1"^^xsd:string, "NCI:C34976"^^xsd:string, "SNOMEDCT_US_2021_03_01:10301003"^^xsd:string, "UMLS_CUI:C0035022"^^xsd:string ; oboInOwl:hasExactSynonym "Relapsing fever, tick-borne"@en, "Tick-borne relapsing fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13036"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "tick-borne relapsing fever"^^xsd:string ; rdfs:subClassOf obo:DOID_13034, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_140564 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_13037 oboInOwl:hasDbXref "ICD10CM:H02.22"^^xsd:string, "ICD9CM:374.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:193939008"^^xsd:string, "UMLS_CUI:C0155198"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13037"^^xsd:string ; a owl:Class ; rdfs:label "mechanical lagophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_12959 . obo:DOID_13038 oboInOwl:hasDbXref "ICD10CM:H02.21"^^xsd:string, "ICD9CM:374.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:193940005"^^xsd:string, "UMLS_CUI:C0155199"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13038"^^xsd:string ; a owl:Class ; rdfs:label "cicatricial lagophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_12959 . obo:DOID_13040 oboInOwl:hasExactSynonym "Syphilitic optic atrophy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13040"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic optic atrophy"^^xsd:string ; owl:deprecated true . obo:DOID_13042 oboInOwl:hasDbXref "ICD10CM:P29.3"^^xsd:string, "ICD9CM:747.83"^^xsd:string, "MESH:D010547"^^xsd:string, "NCI:C85006"^^xsd:string, "OMIM:265380"^^xsd:string, "SNOMEDCT_US_2021_03_01:35604006"^^xsd:string, "UMLS_CUI:C0031190"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal circulation"@en, "Persistent fetal circulation"@en, "Persistent fetal circulation syndrome"@en, "Persistent foetal circulation"@en, "Persistent foetal circulation syndrome"@en, "Persistent pulmonary hypertension of the newborn"@en, "congenital alveolar capillary dysplasia with misalignment of pulmonary veins"@en, "persistent foetal circulation syndrome"@en, "persistent pulmonary hypertension of the newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "persistent fetal circulation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_6432 . obo:DOID_13046 obo:IAO_0000115 "A sphenoid sinusitis which lasts for less than 4 weeks."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01.3"^^xsd:string, "ICD9CM:461.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:77919000"^^xsd:string, "UMLS_CUI:C0155807"^^xsd:string ; oboInOwl:hasExactSynonym "Sphenoidal sinus -acute"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13046"^^xsd:string ; a owl:Class ; rdfs:label "acute sphenoidal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10794 . obo:DOID_13047 obo:IAO_0000115 "An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions."^^xsd:string ; oboInOwl:hasExactSynonym "Ancylostomiasis due to Ancylostoma Braziliense"@en, "Ancylostomiasis due to Ancylostoma braziliense (disorder)"@en, "Ancylostomiasis due to ancylostoma braziliense"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13047"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma braziliense ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_13049 obo:IAO_0000115 "An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia."^^xsd:string ; oboInOwl:hasExactSynonym "Ancylostomiasis due to Ancylostoma Duodenale"@en, "Ancylostomiasis due to Ancylostoma duodenale"@en, "Ancylostomiasis due to Ancylostoma duodenale (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13049"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma duodenale ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_1305 obo:IAO_0000115 "A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS Dementia"@en, "HIV associated cognitive and motor complex"@en, "HIV-associated dementia"@en, "acquired immune deficiency syndrome dementia complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1305"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete AIDS dementia complex"^^xsd:string ; owl:deprecated true . obo:DOID_13050 obo:IAO_0000115 "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:620.1"^^xsd:string, "UMLS_CUI:C0156361"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13050"^^xsd:string ; a owl:Class ; rdfs:label "corpus luteum cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_5119 . obo:DOID_1306 obo:IAO_0000115 "An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS Encephalopathy"@en, "Human immunodefiency virus encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1306"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV encephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_13060 obo:IAO_0000115 "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.65"^^xsd:string, "SNOMEDCT_US_2021_03_01:68241007"^^xsd:string, "UMLS_CUI:C0339594"^^xsd:string ; oboInOwl:hasExactSynonym "Glaucoma associated with ocular trauma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13060"^^xsd:string ; a owl:Class ; rdfs:label "traumatic glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_13063 oboInOwl:hasExactSynonym "Major depressive disorder, recurrent episode, moderate degree"@en, "Moderate recurrent major depression (disorder)"@en, "recurrent depressive disorder, current episode moderate (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13063"^^xsd:string ; a owl:Class ; rdfs:label "obsolete moderate recurrent major depression"^^xsd:string ; owl:deprecated true . obo:DOID_13068 oboInOwl:hasDbXref "ICD10CM:N25.0"^^xsd:string, "ICD9CM:588.0"^^xsd:string, "MESH:D012080"^^xsd:string, "NCI:C114827"^^xsd:string, "SNOMEDCT_US_2021_03_01:266617009"^^xsd:string, "UMLS_CUI:C0035086"^^xsd:string ; oboInOwl:hasExactSynonym "renal rickets"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13068"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal osteodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_1307 obo:IAO_0000115 "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:290.8"^^xsd:string, "UMLS_CUI:C0154319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1307"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_13072 oboInOwl:hasDbXref "ICD9CM:701.1"^^xsd:string, "NCI:C34746"^^xsd:string, "SNOMEDCT_US_2021_03_01:20637002"^^xsd:string, "UMLS_CUI:C0022581"^^xsd:string ; oboInOwl:hasExactSynonym "Keratoderma - acquired"@en, "Keratoderma, acquired"@en, "acquired Keratoderma"@en, "acquired keratoderma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acquired hyperkeratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_13074 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10462"^^xsd:string, "DOID:11399"^^xsd:string, "DOID:11761"^^xsd:string, "DOID:12844"^^xsd:string, "DOID:12845"^^xsd:string, "DOID:12846"^^xsd:string, "DOID:12847"^^xsd:string, "DOID:12848"^^xsd:string, "DOID:13119"^^xsd:string, "DOID:9412"^^xsd:string, "DOID:9690"^^xsd:string, "DOID:9691"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:681.9"^^xsd:string, "UMLS_CUI:C0007644"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytic onychia"@en, "Dermatophytosis of nail"@en, "Onychomycosis due to dermatophyte"@en, "cellulitis and abscess of buttock"@en, "cellulitis and abscess of face"@en, "cellulitis and abscess of finger"@en, "cellulitis and abscess of finger and toe"@en, "cellulitis and abscess of gluteal region"@en, "cellulitis and abscess of trunk"@en, "cellulitis and abscess of upper arm and forearm"@en, "dermatophytic onychomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tinea unguium"@en, "cellulitis and abscess"@en ; oboInOwl:id "DOID:13074"^^xsd:string ; a owl:Class ; rdfs:label "tinea unguium"^^xsd:string ; rdfs:subClassOf obo:DOID_4123, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] . obo:DOID_13076 obo:IAO_0000115 "An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13076"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete abdominal actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_13077 obo:IAO_0000115 "An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13077"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_13078 obo:IAO_0000115 "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B47"^^xsd:string, "MESH:D008271"^^xsd:string, "NCI:C85505"^^xsd:string, "SNOMEDCT_US_2021_03_01:410039003"^^xsd:string, "UMLS_CUI:C0024449"^^xsd:string ; oboInOwl:hasExactSynonym "Madura foot"@en, "Maduromycosis, mycotic"@en, "Mycotic mycetoma"@en, "eumycetoma"@en, "maduromycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13078"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eumycotic mycetoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1563 . obo:DOID_1308 obo:IAO_0000115 "A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS-like syndrome"@en, "acquired immune deficiency syndrome (& [ARC])"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1308"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete AIDS related complex"^^xsd:string ; owl:deprecated true . obo:DOID_13080 obo:IAO_0000115 "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M12.0"^^xsd:string, "ICD9CM:714.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:84801008"^^xsd:string, "UMLS_CUI:C0152084"^^xsd:string ; oboInOwl:hasExactSynonym "Jaccoud syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13080"^^xsd:string ; a owl:Class ; rdfs:label "Jaccoud's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_417 . obo:DOID_13081 oboInOwl:hasDbXref "NCI:C8540"^^xsd:string, "SNOMEDCT_US_2021_03_01:93473009"^^xsd:string, "UMLS_CUI:C0685200"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of the Subcutaneous tissue"@en, "Subcutaneous haemangioma"@en, "Subcutaneous hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of subcutaneous tissue"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011818 ] . obo:DOID_13087 obo:IAO_0000115 "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.6"^^xsd:string, "ICD9CM:426.81"^^xsd:string, "MESH:D008151"^^xsd:string, "OMIM:108950"^^xsd:string, "ORDO:844"^^xsd:string, "SNOMEDCT_US_2021_03_01:55475008"^^xsd:string, "UMLS_CUI:C0024054"^^xsd:string ; oboInOwl:hasExactSynonym "atrial tachyarrhythmia with short PR interval"@en, "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13087"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Lown-Ganong-Levine syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_13088 oboInOwl:hasDbXref "GARD:10285"^^xsd:string, "ICD10CM:P91.2"^^xsd:string, "ICD9CM:779.7"^^xsd:string, "MESH:D007969"^^xsd:string, "NCI:C99013"^^xsd:string, "SNOMEDCT_US_2021_03_01:230769007"^^xsd:string, "UMLS_CUI:C0023529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13088"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periventricular leukomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_2034 . obo:DOID_13089 oboInOwl:hasDbXref "MESH:D020765"^^xsd:string, "UMLS_CUI:C0752138"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13089"^^xsd:string ; a owl:Class ; rdfs:label "intracranial arterial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 . obo:DOID_13094 oboInOwl:hasDbXref "ICD10CM:H34.23"^^xsd:string, "ICD9CM:362.32"^^xsd:string, "MESH:D015356"^^xsd:string, "NCI:C34436"^^xsd:string, "SNOMEDCT_US_2021_03_01:50821009"^^xsd:string, "UMLS_CUI:C0006123"^^xsd:string ; oboInOwl:hasExactSynonym "Arterial retinal branch occlusion"@en, "Retinal Arterial Branch Occlusion"@en, "Retinal arterial branch occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13094"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "branch retinal artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_8483 . obo:DOID_13095 oboInOwl:hasDbXref "MESH:D014715"^^xsd:string, "UMLS_CUI:C0042560"^^xsd:string ; oboInOwl:hasExactSynonym "Vertebral artery syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13095"^^xsd:string ; a owl:Class ; rdfs:label "vertebral artery insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_224, obo:DOID_225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001535 ] ) ] . obo:DOID_13096 oboInOwl:hasDbXref "GARD:7664"^^xsd:string, "MESH:D018860"^^xsd:string, "OMIM:182410"^^xsd:string, "SNOMEDCT_US_2021_03_01:716745004"^^xsd:string, "UMLS_CUI:C0282492"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic livedo reticularis with systemic involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13096"^^xsd:string ; a owl:Class ; rdfs:label "Sneddon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_13097 oboInOwl:hasDbXref "MESH:D002537"^^xsd:string, "UMLS_CUI:C0007771"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13097"^^xsd:string ; a owl:Class ; rdfs:label "intracranial arteriosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 . obo:DOID_13098 obo:IAO_0000115 "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H34.1"^^xsd:string, "ICD9CM:362.31"^^xsd:string, "MESH:D015356"^^xsd:string, "NCI:C34456"^^xsd:string, "SNOMEDCT_US_2021_03_01:38742007"^^xsd:string, "UMLS_CUI:C0007688"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central retinal artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_8483 . obo:DOID_13099 obo:IAO_0000115 "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots."^^xsd:string ; oboInOwl:hasDbXref "GARD:7064"^^xsd:string, "ICD10CM:I67.5"^^xsd:string, "ICD9CM:437.5"^^xsd:string, "MESH:D009072"^^xsd:string, "NCI:C84895"^^xsd:string, "OMIM:252350"^^xsd:string, "OMIM:300845"^^xsd:string, "OMIM:607151"^^xsd:string, "OMIM:608796"^^xsd:string, "OMIM:614042"^^xsd:string, "OMIM:615750"^^xsd:string, "ORDO:2573"^^xsd:string, "ORDO:280679"^^xsd:string, "ORDO:401945"^^xsd:string, "SNOMEDCT_US_2021_03_01:69116000"^^xsd:string, "UMLS_CUI:C0026654"^^xsd:string ; oboInOwl:hasExactSynonym "progressive intracranial arterial occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13099"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Moyamoya disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3527 ; skos:exactMatch "MESH:D009072"^^xsd:string . obo:DOID_13100 oboInOwl:hasDbXref "MESH:D020301"^^xsd:string, "UMLS_CUI:C0751895"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13100"^^xsd:string ; a owl:Class ; rdfs:label "intracranial vasospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 . obo:DOID_13109 obo:IAO_0000115 "A bladder benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6178"^^xsd:string, "UMLS_CUI:C1332560"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13109"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_1311 obo:IAO_0000115 "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS nephropathy"@en, "AIDS-Related nephropathy"@en, "AIDS-associated nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1311"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV-associated nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_13110 oboInOwl:hasDbXref "NCI:C39834"^^xsd:string, "UMLS_CUI:C1511199"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623 . obo:DOID_13112 oboInOwl:hasDbXref "ICD9CM:374.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:38683003"^^xsd:string, "UMLS_CUI:C0155189"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13112"^^xsd:string ; a owl:Class ; rdfs:label "mechanical entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_13113 oboInOwl:hasDbXref "ICD9CM:374.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:67383002"^^xsd:string, "UMLS_CUI:C0155191"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13113"^^xsd:string ; a owl:Class ; rdfs:label "cicatricial entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_13117 obo:IAO_0000115 "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11398"^^xsd:string, "DOID:9689"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L03.0"^^xsd:string, "MESH:D010304"^^xsd:string, "NCI:C79702"^^xsd:string, "SNOMEDCT_US_2021_03_01:267830000"^^xsd:string, "UMLS_CUI:C0030578"^^xsd:string ; oboInOwl:hasExactSynonym "Infected nailfold"@en, "Onychia and paronychia of finger"@en, "Onychia and paronychia of toe"@en, "fungal nail infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "paronychia inflammation"@en ; oboInOwl:id "DOID:13117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paronychia"^^xsd:string ; rdfs:subClassOf obo:DOID_4123 . obo:DOID_1312 oboInOwl:hasAlternativeId "DOID:3945"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004236"^^xsd:string, "GARD:6517"^^xsd:string, "MESH:D005923"^^xsd:string, "NCI:C37308"^^xsd:string, "OMIM:PS603278"^^xsd:string, "SNOMEDCT_US_2021_03_01:25821008"^^xsd:string, "UMLS_CUI:C0017668"^^xsd:string ; oboInOwl:hasExactSynonym "FGS"@en, "FSGS"@en, "focal glomerular sclerosis"@en, "focal glomerulosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "focal segmental glomerulosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050851 . obo:DOID_13120 oboInOwl:hasDbXref "ICD10CM:D53.0"^^xsd:string, "ICD9CM:281.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:85746008"^^xsd:string, "UMLS_CUI:C0154290"^^xsd:string ; oboInOwl:hasExactSynonym "Anemia due to protein deficiency"@en, "Protein-deficiency anaemia"@en, "Protein-deficiency anemia"@en, "protein-deficiency anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13120"^^xsd:string ; a owl:Class ; rdfs:label "protein-deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_13121 . obo:DOID_13121 oboInOwl:hasDbXref "ICD9CM:281.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:191125001"^^xsd:string, "UMLS_CUI:C0041782"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency anemias"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13121"^^xsd:string ; a owl:Class ; rdfs:label "deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_13127 oboInOwl:hasDbXref "ICD9CM:098.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:186929006"^^xsd:string, "UMLS_CUI:C0153219"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal spondylitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13127"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal spondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6590, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_13129 obo:IAO_0000115 "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13130"^^xsd:string, "DOID:13131"^^xsd:string, "DOID:13132"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:642.50"^^xsd:string, "UMLS_CUI:C0156669"^^xsd:string ; oboInOwl:hasExactSynonym "Severe pre-eclampsia, with delivery"@en, "antepartum severe pre-eclampsia"@en, "postpartum severe pre-eclampsia"@en, "severe preeclampsia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13129"^^xsd:string ; a owl:Class ; rdfs:label "severe pre-eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10591 . obo:DOID_1313 obo:IAO_0000115 "An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2."^^xsd:string ; oboInOwl:hasExactSynonym "Human immunodeficiency virus infection wasting syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "AIDS wasting syndrome"@en ; oboInOwl:id "DOID:1313"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV wasting syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_13133 obo:IAO_0000115 "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count."^^xsd:string ; oboInOwl:hasDbXref "GARD:8528"^^xsd:string, "ICD10CM:O14.2"^^xsd:string, "MESH:D017359"^^xsd:string, "NCI:C84750"^^xsd:string, "SNOMEDCT_US_2021_03_01:95605009"^^xsd:string, "UMLS_CUI:C0162739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13133"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "HELLP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_13129 . obo:DOID_13134 obo:IAO_0000115 "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H00.01"^^xsd:string, "ICD9CM:373.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:1489008"^^xsd:string, "UMLS_CUI:C0019919"^^xsd:string ; oboInOwl:hasExactSynonym "external stye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13134"^^xsd:string ; a owl:Class ; rdfs:label "hordeolum externum"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_13135 oboInOwl:hasDbXref "ICD9CM:376.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:69763009"^^xsd:string, "UMLS_CUI:C0152135"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13135"^^xsd:string ; a owl:Class ; rdfs:label "exophthalmic ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_539 . obo:DOID_13137 obo:IAO_0000115 "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted."^^xsd:string ; oboInOwl:hasDbXref "GARD:7883"^^xsd:string, "ICD10CM:G12.0"^^xsd:string, "ICD9CM:335.0"^^xsd:string, "MESH:D014897"^^xsd:string, "NCI:C98670"^^xsd:string, "OMIM:253300"^^xsd:string, "SNOMEDCT_US_2021_03_01:64383006"^^xsd:string, "UMLS_CUI:C0043116"^^xsd:string ; oboInOwl:hasExactSynonym "HMN (Hereditary motor Neuropathy) Proximal type I"@en, "SMA1"@en, "Spinal muscular atrophy 1"@en, "hereditary motor neuropathy proximal type I"@en, "infantile muscular atrophy"@en, "progressive muscular atrophy of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13137"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Werdnig-Hoffmann disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_13138 oboInOwl:hasDbXref "ICD9CM:580.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:197579006"^^xsd:string, "UMLS_CUI:C0341692"^^xsd:string ; oboInOwl:hasExactSynonym "acute glomerulonephritis with lesion of proliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13138"^^xsd:string ; a owl:Class ; rdfs:label "acute proliferative glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_13139 oboInOwl:hasDbXref "NCI:C128143"^^xsd:string, "SNOMEDCT_US_2021_03_01:45406000"^^xsd:string, "UMLS_CUI:C0403416"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "crescentic glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_13138 . obo:DOID_1314 oboInOwl:hasExactSynonym "Wasting disease"@en, "Wasting disease (context-dependent category)"@en, "Wasting disease (disorder)"@en, "Wasting disease, NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1314"^^xsd:string ; a owl:Class ; rdfs:label "obsolete wasting syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_13140 obo:IAO_0000115 "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015829"^^xsd:string, "UMLS_CUI:C0042168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13140"^^xsd:string ; a owl:Class ; rdfs:label "suppurative uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13141, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13141 obo:IAO_0000115 "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H20.9"^^xsd:string, "MESH:D014605"^^xsd:string, "NCI:C26909"^^xsd:string, "SNOMEDCT_US_2021_03_01:267719008"^^xsd:string, "UMLS_CUI:C0042164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13141"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3480, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13143 oboInOwl:hasDbXref "ICD9CM:405.1"^^xsd:string, "NCI:C3658"^^xsd:string, "SNOMEDCT_US_2021_03_01:44111003"^^xsd:string, "UMLS_CUI:C0155620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign secondary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_11130 . obo:DOID_13145 obo:IAO_0000115 "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:405.11"^^xsd:string, "UMLS_CUI:C0155621"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13145"^^xsd:string ; a owl:Class ; rdfs:label "benign renovascular hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_1073, obo:DOID_13143 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_13143 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_13146 obo:IAO_0000115 "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B37.81"^^xsd:string, "ICD9CM:112.84"^^xsd:string, "NCI:C27027"^^xsd:string, "SNOMEDCT_US_2021_03_01:20639004"^^xsd:string, "UMLS_CUI:C0239295"^^xsd:string ; oboInOwl:hasExactSynonym "Candida Esophagitis"@en, "Candidal esophagitis"@en, "Candidiasis of the esophagus"@en, "esophageal moniliasis"@en, "esophageal thrush"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1508, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_13147 oboInOwl:hasDbXref "NCI:C27107"^^xsd:string, "SNOMEDCT_US_2021_03_01:235602008"^^xsd:string, "UMLS_CUI:C0341109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13147"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fungal esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11963, obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_13148 obo:IAO_0000115 "A cystitis characterized by a sudden onset or severe symptoms."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N30.0"^^xsd:string, "ICD9CM:595.0"^^xsd:string, "NCI:C26934"^^xsd:string, "SNOMEDCT_US_2021_03_01:197833009"^^xsd:string, "UMLS_CUI:C0149523"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_13149 obo:IAO_0000115 "A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred)."^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculous Fibrosis of lung"@en, "Tuberculous fibrosis of lung (disorder)"@en, "Tuberculous fibrosis of lung, unspecified examination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13149"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous lung fibrosis"^^xsd:string ; owl:deprecated true . obo:DOID_13157 oboInOwl:hasExactSynonym "Sensory disorder of eyelid"@en, "Sensory disorder of eyelid (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sensory disorder of eyelid"^^xsd:string ; owl:deprecated true . obo:DOID_13159 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the scrotum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4643"^^xsd:string, "SNOMEDCT_US_2021_03_01:276860003"^^xsd:string, "UMLS_CUI:C0349551"^^xsd:string ; oboInOwl:hasExactSynonym "Scrotal squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13159"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotum squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3445, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_13160 oboInOwl:hasDbXref "NCI:C7361"^^xsd:string, "UMLS_CUI:C1331544"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of scrotum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13160"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotum melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_518, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001300 ] . obo:DOID_13164 obo:IAO_0000115 "A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing."^^xsd:string ; oboInOwl:hasExactSynonym "Pertussis pneumonia"@en, "Pneumonia in whooping cough"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13164"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bordetella pertussis pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13165 obo:IAO_0000115 "An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia in aspergillosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13165"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Aspergillus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13166 obo:IAO_0000115 "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever."^^xsd:string ; oboInOwl:hasDbXref "GARD:602"^^xsd:string, "ICD10CM:B44.81"^^xsd:string, "ICD9CM:518.6"^^xsd:string, "MESH:D001229"^^xsd:string, "NCI:C84547"^^xsd:string, "OMIM:103920"^^xsd:string, "SNOMEDCT_US_2021_03_01:37981002"^^xsd:string, "UMLS_CUI:C0004031"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary aspergillus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "allergic bronchopulmonary aspergillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_13564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000604 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000613 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] . obo:DOID_13168 oboInOwl:hasDbXref "ICD10CM:C60.0"^^xsd:string, "ICD9CM:187.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:93805009"^^xsd:string, "UMLS_CUI:C0153598"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of foreskin"@en, "malignant tumor of foreskin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13168"^^xsd:string ; a owl:Class ; rdfs:label "prepuce cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011374 ] ) ] . obo:DOID_13169 oboInOwl:hasDbXref "ICD10CM:C63.1"^^xsd:string, "ICD9CM:187.6"^^xsd:string, "NCI:C3559"^^xsd:string, "SNOMEDCT_US_2021_03_01:94065000"^^xsd:string, "UMLS_CUI:C0153603"^^xsd:string ; oboInOwl:hasExactSynonym "Spermatic cord Ca"@en, "malignant tumor of spermatic cord"@en, "malignant tumor of the Spermatic Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatic cord cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005352 ] ) ] . obo:DOID_13174 oboInOwl:hasDbXref "ICD10CM:H55.04"^^xsd:string, "ICD9CM:379.55"^^xsd:string, "MESH:D009759"^^xsd:string, "SNOMEDCT_US_2021_03_01:9520006"^^xsd:string, "UMLS_CUI:C0155380"^^xsd:string ; oboInOwl:hasExactSynonym "Dissociated nystagmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13174"^^xsd:string ; a owl:Class ; rdfs:label "dissociated nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_9650 . obo:DOID_13175 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tuberculosis of female genital organs"@en ; oboInOwl:id "DOID:13175"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete female genital tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_13177 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13177"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic erythremia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_13185 oboInOwl:hasDbXref "MESH:D045723"^^xsd:string, "UMLS_CUI:C0917875"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13185"^^xsd:string ; a owl:Class ; rdfs:label "esophageal diverticulosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_13186 oboInOwl:hasDbXref "MESH:D004931"^^xsd:string, "NCI:C34811"^^xsd:string, "SNOMEDCT_US_2021_03_01:70667005"^^xsd:string, "UMLS_CUI:C0025164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13186"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "megaesophagus"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_13189 obo:IAO_0000115 "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14144"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004274"^^xsd:string, "ICD10CM:M10"^^xsd:string, "ICD9CM:274"^^xsd:string, "ICD9CM:274.0"^^xsd:string, "MESH:D006073"^^xsd:string, "MESH:D015210"^^xsd:string, "NCI:C34650"^^xsd:string, "SNOMEDCT_US_2021_03_01:201661008"^^xsd:string, "SNOMEDCT_US_2021_03_01:90560007"^^xsd:string, "UMLS_CUI:C0003868"^^xsd:string, "UMLS_CUI:C0018099"^^xsd:string ; oboInOwl:hasExactSynonym "Articular gout"@en, "Gouty arthropathy"@en, "gouty arthritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gout"^^xsd:string ; rdfs:subClassOf obo:DOID_848 . obo:DOID_1319 obo:IAO_0000115 "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2125"^^xsd:string, "DOID:2126"^^xsd:string, "DOID:3543"^^xsd:string, "DOID:6649"^^xsd:string, "DOID:911"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71"^^xsd:string, "ICD9CM:191"^^xsd:string, "ICD9CM:239.6"^^xsd:string, "MESH:D001932"^^xsd:string, "NCI:C170814"^^xsd:string, "NCI:C2907"^^xsd:string, "NCI:C3568"^^xsd:string, "NCI:C5115"^^xsd:string, "NCI:C7710"^^xsd:string, "SNOMEDCT_US_2021_03_01:126952004"^^xsd:string, "SNOMEDCT_US_2021_03_01:428061005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93727008"^^xsd:string, "UMLS_CUI:C0006118"^^xsd:string, "UMLS_CUI:C0153633"^^xsd:string, "UMLS_CUI:C0220624"^^xsd:string, "UMLS_CUI:C0750974"^^xsd:string, "UMLS_CUI:C0750979"^^xsd:string, "UMLS_CUI:C1334557"^^xsd:string ; oboInOwl:hasExactSynonym "BT - Brain tumour"@en, "adult brain tumor"@en, "adult malignant brain neoplasm"@en, "brain neoplasm"@en, "brain neoplasm, adult"@en, "malignant brain tumour"@en, "malignant primary brain neoplasm"@en, "malignant primary brain tumor"@en, "malignant tumor of Brain"@en, "malignant tumor of adult brain"@en, "neoplasm of brain"@en, "primary brain neoplasm"@en, "primary brain tumor"@en, "primary malignant neoplasm of brain"@en, "tumor of the Brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1319"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "brain cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3620, obo:DOID_936 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_13192 oboInOwl:hasExactSynonym "pulmonary congestion and hypostasis (disorder)"@en, "pulmonary congestion and hypostasis NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13192"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary congestion and hypostasis"^^xsd:string ; owl:deprecated true . obo:DOID_13194 oboInOwl:hasExactSynonym "Non-toxic nodular Goiter"@en, "Non-toxic nodular goiter (disorder)"@en, "Non-toxic nodular goiter NOS (disorder)"@en, "Non-toxic nodular goitre"@en, "Nontoxic nodular goiter"@en, "Nontoxic nodular goiter NOS"@en, "Nontoxic nodular goitre NOS"@en, "Unspecified nontoxic nodular goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13194"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-toxic nodular goiter"^^xsd:string ; owl:deprecated true . obo:DOID_13195 oboInOwl:hasDbXref "ICD10CM:E04.9"^^xsd:string, "NCI:C35271"^^xsd:string, "SNOMEDCT_US_2021_03_01:267369002"^^xsd:string, "UMLS_CUI:C0221777"^^xsd:string ; oboInOwl:hasExactSynonym "Goiter, non-toxic"@en, "Goitre, non-toxic"@en, "Nodule-thyroid, non tox"@en, "Non-toxic goitre"@en, "Non-toxic simple goitre"@en, "Nontoxic Goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nontoxic goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_13196 oboInOwl:hasDbXref "MESH:D047268"^^xsd:string, "SNOMEDCT_US_2021_03_01:75667007"^^xsd:string, "UMLS_CUI:C0271760"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13196"^^xsd:string ; a owl:Class ; rdfs:label "lingual goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_13197 oboInOwl:hasDbXref "MESH:D006044"^^xsd:string, "NCI:C131437"^^xsd:string, "SNOMEDCT_US_2021_03_01:237570007"^^xsd:string, "UMLS_CUI:C0018023"^^xsd:string ; oboInOwl:hasExactSynonym "Goiter, nodular"@en, "nodular goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13197"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_13198 obo:IAO_0000115 "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E01.2"^^xsd:string, "ICD9CM:240.0"^^xsd:string, "MESH:D006043"^^xsd:string, "NCI:C35023"^^xsd:string, "SNOMEDCT_US_2021_03_01:271949009"^^xsd:string, "UMLS_CUI:C0018022"^^xsd:string ; oboInOwl:hasExactSynonym "Iodine-deficiency-related endemic goitre"@en, "simple goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endemic goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_13200 oboInOwl:hasDbXref "MESH:D006045"^^xsd:string, "SNOMEDCT_US_2021_03_01:66392007"^^xsd:string, "UMLS_CUI:C0018024"^^xsd:string ; oboInOwl:hasExactSynonym "Retrosternal thyroid goiter"@en, "Retrosternal thyroid goitre"@en, "Substernal goiter"@en, "Substernal goitre"@en, "substernal goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13200"^^xsd:string ; a owl:Class ; rdfs:label "substernal goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_13202 oboInOwl:hasExactSynonym "Syphilitic iridocyclitis (secondary)"@en, "secondary syphilitic iridocyclitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13202"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic iridocyclitis"^^xsd:string ; owl:deprecated true . obo:DOID_13206 oboInOwl:hasAlternativeId "DOID:13220"^^xsd:string, "DOID:13225"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N40"^^xsd:string, "ICD9CM:600.1"^^xsd:string, "UMLS_CUI:C0748012"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13206"^^xsd:string ; a owl:Class ; rdfs:label "nodular prostate"^^xsd:string ; rdfs:subClassOf obo:DOID_11132 . obo:DOID_13207 oboInOwl:hasDbXref "ICD9CM:362.02"^^xsd:string, "NCI:C84457"^^xsd:string, "SNOMEDCT_US_2021_03_01:154679002"^^xsd:string, "UMLS_CUI:C0154830"^^xsd:string ; oboInOwl:hasExactSynonym "PDR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proliferative diabetic retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_8947 . obo:DOID_13208 oboInOwl:hasDbXref "ICD9CM:362.03"^^xsd:string, "NCI:C35668"^^xsd:string, "SNOMEDCT_US_2021_03_01:390834004"^^xsd:string, "UMLS_CUI:C0004606"^^xsd:string ; oboInOwl:hasExactSynonym "Non proliferative diabetic retinopathy"@en, "Non-Proliferative Diabetic Retinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "background diabetic retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_8947 . obo:DOID_13209 oboInOwl:hasDbXref "ICD9CM:426.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:46319007"^^xsd:string, "UMLS_CUI:C0155704"^^xsd:string ; oboInOwl:hasExactSynonym "Right bundle branch block with left posterior fascicular block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13209"^^xsd:string ; a owl:Class ; rdfs:label "right bundle branch block"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 . obo:DOID_13211 oboInOwl:hasExactSynonym "secondary malignant neoplasm of brain and spinal cord (disorder)"@en, "secondary malignant neoplasm of brain or spinal cord NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13211"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of brain and spinal cord"^^xsd:string ; owl:deprecated true . obo:DOID_13212 oboInOwl:hasExactSynonym "metastasis to skin"@en, "metastatic skin carcinoma"@en, "metastatic tumor to the skin"@en, "secondary malignant neoplasm of skin"@en, "secondary malignant neoplasm of skin (disorder)"@en, "secondary malignant neoplasm of skin NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13212"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to skin"^^xsd:string ; owl:deprecated true . obo:DOID_13213 oboInOwl:hasExactSynonym "metastatic tumor to the breast"@en, "secondary malignant neoplasm of breast"@en, "secondary malignant neoplasm of female breast (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13213"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic cancer to the breast"^^xsd:string ; owl:deprecated true . obo:DOID_13214 oboInOwl:hasDbXref "ICD10CM:H35.34"^^xsd:string, "ICD9CM:362.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:193388002"^^xsd:string, "UMLS_CUI:C1261331"^^xsd:string ; oboInOwl:hasExactSynonym "Macular cyst or hole"@en, "Macular cyst, hole, or pseudohole of retina"@en, "Macular pseudohole retinal cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13214"^^xsd:string ; a owl:Class ; rdfs:label "hole retinal cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_13219 oboInOwl:hasExactSynonym "Trans-sexualism with heterosexual history"@en, "Transsexuality with heterosexual history (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13219"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexuality with heterosexual history"^^xsd:string ; owl:deprecated true . obo:DOID_13222 obo:IAO_0000115 "An uterine fibroid that is located adjacent to the lining of the uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D25.0"^^xsd:string, "ICD9CM:218.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:95279007"^^xsd:string, "UMLS_CUI:C0153993"^^xsd:string ; oboInOwl:hasExactSynonym "Submucous leiomyoma of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13222"^^xsd:string ; a owl:Class ; rdfs:label "submucous uterine fibroid"^^xsd:string ; rdfs:subClassOf obo:DOID_13223 . obo:DOID_13223 obo:IAO_0000115 "An uterine benign neoplasm derived from the smooth muscle layer of the uterus."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000731"^^xsd:string, "ICD10CM:D25"^^xsd:string, "ICD9CM:218"^^xsd:string, "MESH:D007889"^^xsd:string, "NCI:C3434"^^xsd:string, "OMIM:150699"^^xsd:string, "SNOMEDCT_US_2021_03_01:95315005"^^xsd:string, "UMLS_CUI:C0042133"^^xsd:string ; oboInOwl:hasExactSynonym "Plexiform leiomyoma"@en, "UTERUS FIBROMA"@en, "leiomyoma of Corpus Uteri"@en, "uterine leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "uterine fibroid"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095 . obo:DOID_13224 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13224"^^xsd:string ; a owl:Class ; rdfs:label "obsolete introverted personality"^^xsd:string ; owl:deprecated true . obo:DOID_13226 obo:IAO_0000115 "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A21.1"^^xsd:string, "ICD9CM:021.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:73363000"^^xsd:string, "UMLS_CUI:C0152944"^^xsd:string ; oboInOwl:hasExactSynonym "Oculoglandular tularemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13226"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "oculoglandular tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123 . obo:DOID_13227 oboInOwl:hasDbXref "ICD9CM:362.77"^^xsd:string, "UMLS_CUI:C0154866"^^xsd:string ; oboInOwl:hasExactSynonym "retinal dystrophies primarily involving Bruch membrane"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13227"^^xsd:string ; a owl:Class ; rdfs:label "retinal dystrophies primarily involving Bruch's membrane"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_1323 oboInOwl:hasExactSynonym "malignant neoplasm of trachea, bronchus and lung (disorder)"@en, "malignant neoplasm of trachea, bronchus, and lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1323"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of trachea, bronchus and lung"^^xsd:string ; owl:deprecated true . obo:DOID_13232 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Diffuse cholesteatosis of middle ear and mastoid"^^xsd:string ; owl:deprecated true . obo:DOID_13238 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A25.1"^^xsd:string, "ICD9CM:026.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:52138004"^^xsd:string, "UMLS_CUI:C0152063"^^xsd:string ; oboInOwl:hasExactSynonym "Streptobacillary fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Streptobacillary rat-bite fever"@en, "Streptobacillosis"@en ; oboInOwl:id "DOID:13238"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Haverhill fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_34105 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_13239 oboInOwl:hasDbXref "ICD9CM:521.41"^^xsd:string, "UMLS_CUI:C1456167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13239"^^xsd:string ; a owl:Class ; rdfs:label "internal pathological resorption"^^xsd:string ; rdfs:subClassOf obo:DOID_13240 . obo:DOID_1324 obo:IAO_0000115 "A respiratory system cancer that is located_in the lung."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13075"^^xsd:string, "DOID:1322"^^xsd:string, "DOID:9881"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C34.1"^^xsd:string, "ICD10CM:C34.2"^^xsd:string, "ICD10CM:C34.3"^^xsd:string, "ICD9CM:162.3"^^xsd:string, "ICD9CM:162.4"^^xsd:string, "ICD9CM:162.5"^^xsd:string, "ICD9CM:162.8"^^xsd:string, "OMIM:211980"^^xsd:string, "OMIM:608935"^^xsd:string, "OMIM:612571"^^xsd:string, "OMIM:612593"^^xsd:string, "OMIM:614210"^^xsd:string, "SNOMEDCT_US_2021_03_01:187860004"^^xsd:string, "SNOMEDCT_US_2021_03_01:187864008"^^xsd:string, "SNOMEDCT_US_2021_03_01:187868006"^^xsd:string, "SNOMEDCT_US_2021_03_01:187874006"^^xsd:string, "UMLS_CUI:C0024624"^^xsd:string, "UMLS_CUI:C0153491"^^xsd:string, "UMLS_CUI:C0153492"^^xsd:string, "UMLS_CUI:C0153493"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "lung neoplasm"@en ; oboInOwl:id "DOID:1324"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "lung cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_13240 oboInOwl:hasDbXref "ICD10CM:K03.3"^^xsd:string, "ICD9CM:521.4"^^xsd:string, "MESH:D014091"^^xsd:string, "SNOMEDCT_US_2021_03_01:70931000"^^xsd:string, "UMLS_CUI:C0040451"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13240"^^xsd:string ; a owl:Class ; rdfs:label "tooth resorption"^^xsd:string ; rdfs:subClassOf obo:DOID_214 ; skos:exactMatch "MESH:D014091"^^xsd:string . obo:DOID_13241 obo:IAO_0000115 "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003780"^^xsd:string, "GARD:848"^^xsd:string, "ICD10CM:M35.2"^^xsd:string, "ICD9CM:136.1"^^xsd:string, "MESH:D001528"^^xsd:string, "NCI:C34416"^^xsd:string, "OMIM:109650"^^xsd:string, "SNOMEDCT_US_2021_03_01:310701003"^^xsd:string, "UMLS_CUI:C0004943"^^xsd:string ; oboInOwl:hasExactSynonym "Adamantiades-Behcet disease"@en, "Behcet syndrome"@en, "Behet's syndrome"@en, "triple symptom complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Behcet's syndrome"@en ; oboInOwl:id "DOID:13241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Behcet's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13248 oboInOwl:hasDbXref "NCI:C3241"^^xsd:string, "SNOMEDCT_US_2021_03_01:53773002"^^xsd:string, "UMLS_CUI:C0026684"^^xsd:string ; oboInOwl:hasExactSynonym "Appendicele Mucocele"@en, "Mucocele of appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13248"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucocele of appendix"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_13249 oboInOwl:hasDbXref "MESH:D011006"^^xsd:string, "SNOMEDCT_US_2021_03_01:17465007"^^xsd:string, "UMLS_CUI:C0032266"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumatosis cystoides intestinalis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13249"^^xsd:string ; a owl:Class ; rdfs:label "pneumatosis cystoides intestinalis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_1325 obo:IAO_0000115 "A respiratory system cancer that is located_in the bronchus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C34"^^xsd:string, "ICD9CM:162.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:187875007"^^xsd:string, "UMLS_CUI:C0348343"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of bronchus and lung"@en, "malignant neoplasm of bronchus or lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1325"^^xsd:string ; a owl:Class ; rdfs:label "bronchus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_1176 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_13250 obo:IAO_0000115 "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050006"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:009.2"^^xsd:string, "MESH:D004403"^^xsd:string, "SNOMEDCT_US_2021_03_01:154268000"^^xsd:string, "UMLS_CUI:C0013369"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "diarrhea of presumed infectious origin"@en, "diarrhoea"@en ; oboInOwl:id "DOID:13250"^^xsd:string ; oboInOwl:inSubset doid:GOLD ; a owl:Class ; rdfs:comment "diarrhea is both a disease and a symptom [ms]"^^xsd:string ; rdfs:label "diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_77 . obo:DOID_13251 obo:IAO_0000115 "A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13251"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV enteropathy"^^xsd:string ; owl:deprecated true . obo:DOID_13252 oboInOwl:hasDbXref "MESH:D008641"^^xsd:string, "UMLS_CUI:C0025472"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13252"^^xsd:string ; a owl:Class ; rdfs:label "mesenteric vascular occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_341 . obo:DOID_13253 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13253"^^xsd:string ; a owl:Class ; rdfs:label "obsolete jejunal disease"^^xsd:string ; owl:deprecated true . obo:DOID_13254 obo:IAO_0000115 "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10757"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004239"^^xsd:string, "SNOMEDCT_US_2021_03_01:111359004"^^xsd:string, "UMLS_CUI:C0012814"^^xsd:string ; oboInOwl:hasExactSynonym "colonic diverticular disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13254"^^xsd:string ; a owl:Class ; rdfs:label "diverticulitis of colon"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, obo:DOID_7475, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7475 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_13257 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma duboisii with endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_13258 obo:IAO_0000115 "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3054"^^xsd:string ; oboInOwl:hasDbXref "GARD:9564"^^xsd:string, "ICD10CM:A01.0"^^xsd:string, "ICD9CM:002.0"^^xsd:string, "MESH:D014435"^^xsd:string, "NCI:C35089"^^xsd:string, "SNOMEDCT_US_2021_03_01:186091002"^^xsd:string, "UMLS_CUI:C0041466"^^xsd:string ; oboInOwl:hasExactSynonym "Typhoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "typhoid fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_59201 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000116 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000317 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000531 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_13262 oboInOwl:hasExactSynonym "Drug-induced hallucinatory state"@en, "Drug-induced hallucinosis (disorder)"@en, "Drug-induced psychotic disorder with hallucinations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13262"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hallucinatory state induced by drug"^^xsd:string ; owl:deprecated true . obo:DOID_13268 obo:IAO_0000115 "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins."^^xsd:string ; oboInOwl:hasDbXref "GARD:10353"^^xsd:string, "ICD10CM:E80.20"^^xsd:string, "ICD9CM:277.1"^^xsd:string, "MESH:D011164"^^xsd:string, "NCI:C97096"^^xsd:string, "SNOMEDCT_US_2021_03_01:190912004"^^xsd:string, "UMLS_CUI:C0032708"^^xsd:string ; oboInOwl:hasExactSynonym "Hematoporphyria"@en, "Porphyrinopathy"@en, "disorder of porphyrin and hem metabolism"@en, "disorder of porphyrin metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13268"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_13269 oboInOwl:hasDbXref "GARD:6619"^^xsd:string, "ICD10CM:E80.29"^^xsd:string, "MESH:D046349"^^xsd:string, "NCI:C84759"^^xsd:string, "OMIM:121300"^^xsd:string, "SNOMEDCT_US_2021_03_01:7425008"^^xsd:string, "UMLS_CUI:C0162531"^^xsd:string ; oboInOwl:hasExactSynonym "Coproporphyrinogen oxidase deficiency"@en, "Hereditary coproporphyria"@en, "hereditary coproporphyria porphyria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13269"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hereditary coproporphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_13270 obo:IAO_0000115 "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:4527"^^xsd:string, "ICD10CM:E80.0"^^xsd:string, "MESH:D046351"^^xsd:string, "NCI:C84698"^^xsd:string, "OMIM:177000"^^xsd:string, "OMIM:300752"^^xsd:string, "ORDO:79278"^^xsd:string, "SNOMEDCT_US_2021_03_01:51022005"^^xsd:string, "UMLS_CUI:C0162568"^^xsd:string ; oboInOwl:hasExactSynonym "EPP"@en, "Erythropoietic protoporphyria"@en, "Protoporphyria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "erythropoietic protoporphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_13271 oboInOwl:hasDbXref "GARD:4446"^^xsd:string, "ICD10CM:E80.0"^^xsd:string, "MESH:D017092"^^xsd:string, "NCI:C84697"^^xsd:string, "OMIM:263700"^^xsd:string, "SNOMEDCT_US_2021_03_01:67312003"^^xsd:string, "UMLS_CUI:C0162530"^^xsd:string ; oboInOwl:hasExactSynonym "Erythropoietic porphyria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cutaneous porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_13268, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_13268 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_13272 obo:IAO_0000115 "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J15.0"^^xsd:string, "ICD9CM:482.0"^^xsd:string, "MESH:D007710"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to Klebsiella pneumoniae"@en, "Pneumonia due to Klebsiella pneumoniae (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13272"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Klebsiella pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_573 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_13273 obo:IAO_0000115 "A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to Escherichia coli (disorder)"@en, "Pneumonia due to escherichia coli"@en, "Pneumonia due to escherichia coli [E. coli]"@en, "pneumonia due to escherichia coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13273"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13274 obo:IAO_0000115 "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms."^^xsd:string ; oboInOwl:hasExactSynonym "Enzootic pneumonia of calves (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enzootic pneumonia of calves"^^xsd:string ; owl:deprecated true . obo:DOID_13275 obo:IAO_0000115 "A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema."^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsial pneumonia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13275"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rickettsial pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13276 obo:IAO_0000115 "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J15.7"^^xsd:string, "ICD9CM:483.0"^^xsd:string, "MESH:D011019"^^xsd:string ; oboInOwl:hasExactSynonym "Mycoplasma pneumonia"@en, "Mycoplasmal pneumonia"@en, "Pneumonia due to Eaton's agent"@en, "Pneumonia due to Mycoplasma pneumoniae"@en, "Pneumonia due to Mycoplasma pneumoniae (disorder)"@en, "cold agglutinin positive pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13276"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Mycoplasma pneumoniae pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2104 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_13277 obo:IAO_0000115 "A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough."^^xsd:string ; oboInOwl:hasExactSynonym "mycoplasmal pneumonia of swine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13277"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycoplasma hyopneumoniae pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13278 obo:IAO_0000115 "A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation."^^xsd:string ; oboInOwl:hasExactSynonym "Salmonella pneumonia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13278"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1328 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A92.4"^^xsd:string, "MESH:D012295"^^xsd:string, "NCI:C128419"^^xsd:string, "SNOMEDCT_US_2021_03_01:7077006"^^xsd:string, "UMLS_CUI:C0035613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Rift Valley fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11588 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000756 ] . obo:DOID_13282 obo:IAO_0000115 "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:014.8"^^xsd:string, "UMLS_CUI:C0152724"^^xsd:string ; oboInOwl:hasExactSynonym "tuberculosis of intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13282"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "intestinal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_404, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000867 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_13285 obo:IAO_0000115 "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever."^^xsd:string ; oboInOwl:hasExactSynonym "Enteroinvasive Escherichia coli gastrointestinal tract infection"@en, "Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder)"@en, "intestinal infectious disease due to enteroinvasive E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13285"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete enteroinvasive Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13295 oboInOwl:hasDbXref "ICD9CM:377.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:19148004"^^xsd:string, "UMLS_CUI:C0155298"^^xsd:string ; oboInOwl:hasExactSynonym "Crater-like optic disc holes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13295"^^xsd:string ; a owl:Class ; rdfs:label "crater-like holes of optic disc"^^xsd:string ; rdfs:subClassOf obo:DOID_1393 . obo:DOID_133 obo:IAO_0000115 "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40255"^^xsd:string, "UMLS_CUI:C1519926"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal Muellerian papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:133"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal Mullerian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114 . obo:DOID_13300 obo:IAO_0000115 "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column."^^xsd:string ; oboInOwl:hasDbXref "GARD:7610"^^xsd:string, "ICD10CM:M42.0"^^xsd:string, "ICD9CM:732.0"^^xsd:string, "MESH:D012544"^^xsd:string, "NCI:C34999"^^xsd:string, "OMIM:181440"^^xsd:string, "SNOMEDCT_US_2021_03_01:53406005"^^xsd:string, "UMLS_CUI:C0036310"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile osteochondritis of the spine"@en, "Juvenile osteochondrosis of Scheurermann"@en, "Juvenile osteochondrosis of spine"@en, "Scheuermann's kyphosis"@en, "Sherman's Disease"@en ; oboInOwl:hasNarrowSynonym "Scheuermann disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13300"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Scheuermann's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_8125, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_13305 obo:IAO_0000115 "A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy."^^xsd:string ; oboInOwl:hasExactSynonym "Anterior nasal diphtheria"@en, "Anterior nasal diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13305"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete anterior nasal diphtheria"^^xsd:string ; owl:deprecated true . obo:DOID_13306 obo:IAO_0000115 "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A36.85"^^xsd:string, "ICD9CM:032.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:197847008"^^xsd:string, "UMLS_CUI:C0152954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13306"^^xsd:string ; a owl:Class ; rdfs:label "diphtheritic cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_13307 obo:IAO_0000115 "A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane."^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival diphtheria"@en, "Conjunctival diphtheria (disorder)"@en, "Pseudomembranous Diphtheritic Conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pseudomembranous diphtheritic conjunctivitis"^^xsd:string ; owl:deprecated true . obo:DOID_13308 obo:IAO_0000115 "A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae."^^xsd:string ; oboInOwl:hasExactSynonym "Diphtheritic myocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13308"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diphtheritic myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_13309 obo:IAO_0000115 "A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance."^^xsd:string ; oboInOwl:hasExactSynonym "Nasopharyngeal Diphtheria"@en, "Nasopharyngeal diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13309"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete nasopharyngeal diphtheria"^^xsd:string ; owl:deprecated true . obo:DOID_13310 obo:IAO_0000115 "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A36.89"^^xsd:string, "ICD9CM:032.83"^^xsd:string, "SNOMEDCT_US_2021_03_01:13596001"^^xsd:string, "UMLS_CUI:C0152953"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13310"^^xsd:string ; a owl:Class ; rdfs:label "diphtheritic peritonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8283 . obo:DOID_13313 oboInOwl:hasDbXref "NCI:C5717"^^xsd:string, "UMLS_CUI:C1335310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic mucinous ductal ectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_13315 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13315"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsing pancreatitis"^^xsd:string ; owl:deprecated true . obo:DOID_13316 oboInOwl:hasDbXref "ICD10CM:K86.81"^^xsd:string, "MESH:D010188"^^xsd:string, "NCI:C84316"^^xsd:string, "SNOMEDCT_US_2021_03_01:47367009"^^xsd:string, "UMLS_CUI:C0267963"^^xsd:string ; oboInOwl:hasExactSynonym "Exocrine pancreatic insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13316"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exocrine pancreatic insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_13317 obo:IAO_0000115 "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9996"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E16.9"^^xsd:string, "MESH:D046768"^^xsd:string, "NCI:C4375"^^xsd:string, "SNOMEDCT_US_2021_03_01:42681006"^^xsd:string, "UMLS_CUI:C0027773"^^xsd:string ; oboInOwl:hasExactSynonym "Islet cell hyperplasia"@en, "nesidioblastosis"@en, "persistent hyperinsulinemia hypoglycemia of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13317"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperinsulinemic hypoglycemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_13319 oboInOwl:hasExactSynonym "Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder)"@en, "malignant mast cell tumors involving lymph nodes of inguinal region and lower limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13319"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lower limb lymph node mast cell malignancy"^^xsd:string ; owl:deprecated true . obo:DOID_1332 obo:IAO_0000115 "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1332"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Bunyaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13326 oboInOwl:hasDbXref "ICD10CM:H10.43"^^xsd:string, "ICD9CM:372.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:39429002"^^xsd:string, "UMLS_CUI:C0155147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13326"^^xsd:string ; a owl:Class ; rdfs:label "chronic follicular conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2475 . obo:DOID_13327 obo:IAO_0000115 "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.02"^^xsd:string, "UMLS_CUI:C0154941"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13327"^^xsd:string ; a owl:Class ; rdfs:label "anatomical narrow angle borderline glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9283 . obo:DOID_13328 obo:IAO_0000115 "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:43959009"^^xsd:string, "UMLS_CUI:C0011876"^^xsd:string ; oboInOwl:hasExactSynonym "Cataract - diabetic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13328"^^xsd:string ; a owl:Class ; rdfs:label "diabetic cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_13329 oboInOwl:hasDbXref "ICD10CM:H46.3"^^xsd:string, "ICD9CM:377.34"^^xsd:string, "MESH:D000081028"^^xsd:string, "SNOMEDCT_US_2021_03_01:194053003"^^xsd:string, "UMLS_CUI:C0155303"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13329"^^xsd:string ; a owl:Class ; rdfs:label "toxic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_1333 obo:IAO_0000115 "A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1333"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete african horse sickness"^^xsd:string ; owl:deprecated true . obo:DOID_13333 oboInOwl:hasDbXref "ICD10CM:K14.3"^^xsd:string, "ICD9CM:529.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:6971002"^^xsd:string, "UMLS_CUI:C0392494"^^xsd:string ; oboInOwl:hasExactSynonym "Tongue papillary hypertrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13333"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophy of tongue papillae"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 . obo:DOID_13335 obo:IAO_0000115 "A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice."^^xsd:string ; oboInOwl:hasExactSynonym "Hepatitis due to toxoplasmosis"@en, "Toxoplasma hepatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13335"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Toxoplasma hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_13336 obo:IAO_0000115 "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur."^^xsd:string ; oboInOwl:hasDbXref "GARD:10326"^^xsd:string, "ICD10CM:P37.1"^^xsd:string, "MESH:D014125"^^xsd:string, "NCI:C50503"^^xsd:string, "SNOMEDCT_US_2021_03_01:268875000"^^xsd:string, "UMLS_CUI:C0040560"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital toxoplasmosis"@en, "Toxoplasmosis - congen."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13336"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital toxoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_9965, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_13338 obo:IAO_0000115 "A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "Myocarditis due to acquired toxoplasmosis (disorder)"@en, "Myocarditis due to toxoplasmosis"@en, "Toxoplasma myocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Toxoplasma myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_1334 obo:IAO_0000115 "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses."^^xsd:string ; oboInOwl:hasExactSynonym "Reoviridae disease"@en, "disease due to Orthoreovirus"@en, "disease due to Reoviridae (disorder)"@en, "disease due to Reovirus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Reoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13341 oboInOwl:hasDbXref "ICD9CM:372.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:13816006"^^xsd:string, "UMLS_CUI:C0155148"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13341"^^xsd:string ; a owl:Class ; rdfs:label "parasitic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2475 . obo:DOID_13342 obo:IAO_0000115 "A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonitis due to toxoplasmosis"@en, "Toxoplasma pneumonitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13342"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Toxoplasma pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13343 obo:IAO_0000115 "A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13337"^^xsd:string, "DOID:13340"^^xsd:string ; oboInOwl:hasExactSynonym "Chorioretinitis due to toxoplasmosis"@en, "Conjunctivitis due to acquired toxoplasmosis (disorder)"@en, "Conjunctivitis due to toxoplasmosis"@en, "Ocular toxoplasmosis (disorder)"@en, "Toxoplasma chorioretinitis"@en, "Toxoplasma conjunctivitis"@en, "Toxoplasmosis chorioretinitis (disorder)"@en, "ocular toxoplasmosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13343"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ocular toxoplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_13348 oboInOwl:hasDbXref "ICD10CM:C32.3"^^xsd:string, "ICD9CM:161.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:109370001"^^xsd:string, "UMLS_CUI:C0153486"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of laryngeal cartilage"@en, "malignant neoplasm of laryngeal cartilages"@en, "malignant tumor of laryngeal cartilage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13348"^^xsd:string ; a owl:Class ; rdfs:label "laryngeal cartilage cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2596 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001739 ] ) ] . obo:DOID_1335 obo:IAO_0000115 "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Soremuzzle"@en ; oboInOwl:id "DOID:1335"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bluetongue"^^xsd:string ; owl:deprecated true . obo:DOID_13350 oboInOwl:hasExactSynonym "Gender identity disorder of childhood (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13350"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gender identity disorder in children"^^xsd:string ; owl:deprecated true . obo:DOID_13351 oboInOwl:hasDbXref "ICD10CM:F65.4"^^xsd:string, "ICD9CM:302.2"^^xsd:string, "MESH:D010378"^^xsd:string, "NCI:C94355"^^xsd:string, "SNOMEDCT_US_2021_03_01:192516001"^^xsd:string, "UMLS_CUI:C0030764"^^xsd:string ; oboInOwl:hasExactSynonym "Paedophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pedophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_13352 obo:IAO_0000115 "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:302.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:52813007"^^xsd:string, "UMLS_CUI:C0233880"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13352"^^xsd:string ; a owl:Class ; rdfs:label "ego-dystonic sexual orientation"^^xsd:string ; rdfs:subClassOf obo:DOID_1234, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000412 ] . obo:DOID_13353 oboInOwl:hasDbXref "ICD10CM:H16.32"^^xsd:string, "ICD9CM:370.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:193785001"^^xsd:string, "UMLS_CUI:C0155089"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13353"^^xsd:string ; a owl:Class ; rdfs:label "diffuse interstitial keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9857 . obo:DOID_13356 oboInOwl:hasDbXref "ICD9CM:374.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:71659009"^^xsd:string, "UMLS_CUI:C0155193"^^xsd:string ; oboInOwl:hasExactSynonym "Involutional ectropion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13356"^^xsd:string ; a owl:Class ; rdfs:label "senile ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_1570 . obo:DOID_13357 oboInOwl:hasDbXref "ICD10CM:M22.4"^^xsd:string, "ICD9CM:717.7"^^xsd:string, "MESH:D046789"^^xsd:string, "OMIM:168900"^^xsd:string, "SNOMEDCT_US_2021_03_01:156521009"^^xsd:string, "UMLS_CUI:C0008475"^^xsd:string ; oboInOwl:hasExactSynonym "Chondromalacia of patella"@en, "Chondromalacia patellae"@en, "softening of articular cartilage of patella"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13357"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "chondromalacia patellae"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, obo:DOID_2557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2557 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002446 ] ) ] . obo:DOID_13359 obo:IAO_0000115 "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14696"^^xsd:string ; oboInOwl:hasDbXref "GARD:6322"^^xsd:string, "ICD10CM:Q79.6"^^xsd:string, "ICD9CM:756.83"^^xsd:string, "MESH:D004535"^^xsd:string, "NCI:C34568"^^xsd:string, "OMIM:PS130000"^^xsd:string, "SNOMEDCT_US_2021_03_01:268352002"^^xsd:string, "UMLS_CUI:C0013720"^^xsd:string ; oboInOwl:hasExactSynonym "Cutis hyperelastica"@en, "elastic skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13359"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "Ehlers-Danlos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_854 . obo:DOID_1336 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration."^^xsd:string ; oboInOwl:hasExactSynonym "Nairobi sheep virus disease (disorder)"@en, "Nairobi sheep virus gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1336"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete Nairobi sheep disease"^^xsd:string ; owl:deprecated true . obo:DOID_13361 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13361"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_13364 oboInOwl:hasDbXref "MESH:D021081"^^xsd:string, "UMLS_CUI:C0236811"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13364"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronobiology disease"^^xsd:string ; owl:deprecated true . obo:DOID_13365 obo:IAO_0000115 "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:315.09"^^xsd:string, "UMLS_CUI:C0154631"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13365"^^xsd:string ; a owl:Class ; rdfs:label "reading disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8927 . obo:DOID_13366 obo:IAO_0000115 "A movement disease that is of unknown etiology characterized by progressive rigidity."^^xsd:string ; oboInOwl:hasDbXref "GARD:5023"^^xsd:string, "ICD10CM:G25.82"^^xsd:string, "ICD9CM:333.91"^^xsd:string, "MESH:D016750"^^xsd:string, "NCI:C85170"^^xsd:string, "OMIM:184850"^^xsd:string, "SNOMEDCT_US_2021_03_01:5217008"^^xsd:string, "UMLS_CUI:C0085292"^^xsd:string ; oboInOwl:hasExactSynonym "Stiff-man syndrome"@en, "stiff man syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13366"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Stiff-Person syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_13368 obo:IAO_0000115 "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:58950002"^^xsd:string, "UMLS_CUI:C1279621"^^xsd:string ; oboInOwl:hasExactSynonym "Deep seated dermatophytosis"@en, "Granuloma trichophyticum"@en, "Majocchi's granuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13368"^^xsd:string ; a owl:Class ; rdfs:label "tinea profunda"^^xsd:string ; rdfs:subClassOf obo:DOID_12179, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_523103 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_13369 obo:IAO_0000115 "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B35.2"^^xsd:string, "ICD9CM:110.2"^^xsd:string, "MESH:C000656824"^^xsd:string, "SNOMEDCT_US_2021_03_01:48971001"^^xsd:string, "UMLS_CUI:C0153246"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis of hand"@en, "Tinea manus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13369"^^xsd:string ; a owl:Class ; rdfs:label "tinea manuum"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_13371 obo:IAO_0000115 "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A75.3"^^xsd:string, "ICD9CM:081.2"^^xsd:string, "MESH:D012612"^^xsd:string, "SNOMEDCT_US_2021_03_01:73911003"^^xsd:string, "UMLS_CUI:C0036472"^^xsd:string ; oboInOwl:hasExactSynonym "Japanese river fever"@en, "Kedani fever"@en, "Scrub mite-borne typhus"@en, "Tsutsugamushi"@en, "Tsutsugamushi disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Chigger-borne rickettsiosis"@en, "Chigger-borne typhus"@en, "Mite-borne rickettsiosis"@en, "Mite-borne typhus"@en, "Scrub (mite-borne) typhus"@en, "Tropical typhus"@en, "Tsutsugamushi fever"@en, "Typhus fever due to Rickettsia tsutsugamushi"@en ; oboInOwl:id "DOID:13371"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "scrub typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_784 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_299467 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_13372 obo:IAO_0000115 "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:5784"^^xsd:string, "ICD10CM:E88.01"^^xsd:string, "ICD9CM:273.4"^^xsd:string, "MESH:D019896"^^xsd:string, "NCI:C84397"^^xsd:string, "OMIM:613490"^^xsd:string, "SNOMEDCT_US_2021_03_01:30188007"^^xsd:string, "UMLS_CUI:C0221757"^^xsd:string ; oboInOwl:hasExactSynonym "AAT deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13372"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alpha 1-antitrypsin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2345, [ a owl:Restriction ; owl:onClass [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 [ a owl:Restriction ; owl:onClass obo:SO_0000704 ; owl:onProperty obo:RO_0004026 ; owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ] ) ] ; owl:onProperty obo:IDO_0000664 ; owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ] ; skos:exactMatch "MESH:D019896"^^xsd:string . obo:DOID_13374 obo:IAO_0000115 "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:6445"^^xsd:string, "ICD10CM:M61.1"^^xsd:string, "ICD9CM:728.11"^^xsd:string, "MESH:D009221"^^xsd:string, "NCI:C3040"^^xsd:string, "OMIM:135100"^^xsd:string, "ORDO:337"^^xsd:string, "SNOMEDCT_US_2021_03_01:82725007"^^xsd:string, "UMLS_CUI:C0016037"^^xsd:string ; oboInOwl:hasExactSynonym "Stone Man Syndrome"@en, "myositis ossificans progressiva"@en, "progressive myositis ossificans"@en, "progressive ossifying myositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13374"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fibrodysplasia ossificans progressiva"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_13375 obo:IAO_0000115 "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:446.5"^^xsd:string, "MESH:D013700"^^xsd:string, "NCI:C35065"^^xsd:string, "OMIM:187360"^^xsd:string, "ORDO:397"^^xsd:string, "SNOMEDCT_US_2021_03_01:195354005"^^xsd:string, "UMLS_CUI:C0039483"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell Arteritis"@en, "Giant cell arteritis"@en, "Horton's disease"@en, "Temporal arteritis"@en, "giant cell arteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13375"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "temporal arteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_438, obo:DOID_525, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_13376 oboInOwl:hasExactSynonym "Congenital aortic valve insufficiency (disorder)"@en, "Congenital aortic valve insufficiency NOS (disorder)"@en, "Congenital aortic valve insufficiency, unspecified (disorder)"@en, "Congenital bicuspid aortic valve insufficiency"@en, "Congenital insufficiency of aortic valve"@en, "Congenital insufficiency of aortic valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13376"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital aortic insufficiency"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_13378 obo:IAO_0000115 "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004246"^^xsd:string, "GARD:6816"^^xsd:string, "ICD10CM:M30.3"^^xsd:string, "ICD9CM:446.1"^^xsd:string, "MESH:D009080"^^xsd:string, "NCI:C34825"^^xsd:string, "OMIM:611775"^^xsd:string, "SNOMEDCT_US_2021_03_01:75053002"^^xsd:string, "UMLS_CUI:C0026691"^^xsd:string ; oboInOwl:hasExactSynonym "Kawasaki's disease"@en, "MLNS"@en, "acute febrile MCLS"@en, "acute febrile mucocutaneous lymph node syndrome"@en, "mucocutaneous lymph node syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13378"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Kawasaki disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1602, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1338 obo:IAO_0000115 "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:1999"^^xsd:string, "ICD10CM:D64.4"^^xsd:string, "MESH:D000742"^^xsd:string, "NCI:C84646"^^xsd:string, "OMIM:PS224120"^^xsd:string, "ORDO:85"^^xsd:string, "SNOMEDCT_US_2021_03_01:191272005"^^xsd:string, "UMLS_CUI:C0002876"^^xsd:string ; oboInOwl:hasExactSynonym "congenital dyshaematopoietic anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1338"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital dyserythropoietic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_13380 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13380"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute pyelonephritis with lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_13381 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors."^^xsd:string ; oboInOwl:hasDbXref "GARD:12671"^^xsd:string, "ICD10CM:D51.0"^^xsd:string, "ICD9CM:281.0"^^xsd:string, "MESH:D000752"^^xsd:string, "NCI:C2871"^^xsd:string, "OMIM:170900"^^xsd:string, "SNOMEDCT_US_2021_03_01:191139001"^^xsd:string, "UMLS_CUI:C0002892"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA PERNICIOUS"@en, "Addison's anaemia"@en, "Biermer's anaemia"@en, "Biermer's anemia"@en, "pernicious anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pernicious anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_13382 obo:IAO_0000115 "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D53.1"^^xsd:string, "MESH:D000749"^^xsd:string, "NCI:C34382"^^xsd:string, "OMIM:261100"^^xsd:string, "OMIM:613839"^^xsd:string, "SNOMEDCT_US_2021_03_01:191138009"^^xsd:string, "UMLS_CUI:C0002888"^^xsd:string ; oboInOwl:hasExactSynonym "Grasbeck-Imerslund syndrome"@en, "Imerslund-Grasbeck syndrome"@en, "MGA1 Norwegian type"@en, "RH-MGA1"@en, "megaloblastic anaemia"@en, "recessive hereditary megaloblastic anaemia 1"@en, "recessive hereditary megaloblastic anemia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "IGS"@en ; oboInOwl:id "DOID:13382"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "megaloblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2361 . obo:DOID_13386 obo:IAO_0000115 "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A22.2"^^xsd:string, "ICD9CM:022.2"^^xsd:string, "MESH:C571911"^^xsd:string, "SNOMEDCT_US_2021_03_01:186302005"^^xsd:string, "UMLS_CUI:C0152945"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13386"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "gastrointestinal anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_7427, obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7427 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_13387 oboInOwl:hasExactSynonym "malignant neoplasm of upper limb"@en, "malignant neoplasm of upper limb NOS (disorder)"@en, "malignant neoplasm of upper limb, NOS"@en, "malignant tumor of upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13387"^^xsd:string ; a owl:Class ; rdfs:label "obsolete upper limb cancer"^^xsd:string ; owl:deprecated true . obo:DOID_13389 obo:IAO_0000115 "A vulva carcinoma that is located_in the labia majora."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9363"^^xsd:string, "UMLS_CUI:C1334356"^^xsd:string ; oboInOwl:hasExactSynonym "Labia Majora cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of labia majora"@en ; oboInOwl:id "DOID:13389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labia majora carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294, obo:DOID_4159, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004085 ] . obo:DOID_1339 obo:IAO_0000115 "A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6274"^^xsd:string, "ICD10CM:D61.01"^^xsd:string, "MESH:D029503"^^xsd:string, "NCI:C61236"^^xsd:string, "OMIM:PS105650"^^xsd:string, "ORDO:124"^^xsd:string, "SNOMEDCT_US_2020_03_01:188588001"^^xsd:string ; oboInOwl:hasExactSynonym "Blackfan - Diamond syndrome"@en, "chronic constitutional pure red cell anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1339"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Diamond-Blackfan anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1342 . obo:DOID_13397 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13397"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atypical manic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_13398 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13398"^^xsd:string ; a owl:Class ; rdfs:label "obsolete open angle with borderline glaucoma findings"^^xsd:string ; owl:deprecated true . obo:DOID_13399 obo:IAO_0000115 "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.5"^^xsd:string, "ICD9CM:368.5"^^xsd:string, "MESH:D003117"^^xsd:string, "NCI:C3891"^^xsd:string, "SNOMEDCT_US_2021_03_01:193683001"^^xsd:string, "UMLS_CUI:C0242225"^^xsd:string ; oboInOwl:hasExactSynonym "BLINDNESS COLOR"@en, "Colour blindness"@en, "Colour vision deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13399"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_1432 . obo:DOID_134 obo:IAO_0000115 "A vaginal cancer that has_material_basis in glandular tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40250"^^xsd:string, "UMLS_CUI:C1519921"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal glandular tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_119 . obo:DOID_1340 oboInOwl:hasDbXref "GARD:7504"^^xsd:string, "MESH:D012010"^^xsd:string, "NCI:C34974"^^xsd:string, "SNOMEDCT_US_2021_03_01:191252000"^^xsd:string, "UMLS_CUI:C0034902"^^xsd:string ; oboInOwl:hasExactSynonym "Pure Red cell Aplasia"@en, "Pure red cell aplasia"@en, "Red cell hypoplasia"@en, "primary red cell aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1340"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pure red-cell aplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_12449 . obo:DOID_13401 oboInOwl:hasDbXref "MESH:D000793"^^xsd:string, "OMIM:607140"^^xsd:string, "UMLS_CUI:C0002982"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13401"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "angioid streaks"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_13402 oboInOwl:hasDbXref "ICD10CM:D86.3"^^xsd:string, "NCI:C34996"^^xsd:string, "SNOMEDCT_US_2021_03_01:55941000"^^xsd:string, "UMLS_CUI:C0036203"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Sarcoidosis"@en, "Cutaneous sarcoid"@en, "Cutaneous sarcoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13402"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11335, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_11335 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_13403 obo:IAO_0000115 "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35441"^^xsd:string, "SNOMEDCT_US_2021_03_01:111936002"^^xsd:string, "UMLS_CUI:C0398676"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral Sarcoidosis"@en, "Cerebral sarcoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13403"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurosarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11335 . obo:DOID_13404 obo:IAO_0000115 "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D86.89"^^xsd:string, "MESH:D014608"^^xsd:string, "SNOMEDCT_US_2021_03_01:31541009"^^xsd:string, "UMLS_CUI:C0042171"^^xsd:string ; oboInOwl:hasExactSynonym "Heerfordt's syndrome"@en, "Uveoparotid fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13404"^^xsd:string ; a owl:Class ; rdfs:label "uveoparotid fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11335 . obo:DOID_13405 obo:IAO_0000115 "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35589"^^xsd:string, "SNOMEDCT_US_2021_03_01:75403004"^^xsd:string, "UMLS_CUI:C0392077"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiac sarcoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13405"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11335, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_13406 obo:IAO_0000115 "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D86.0"^^xsd:string, "MEDDRA:10037430"^^xsd:string, "MESH:D017565"^^xsd:string, "NCI:C34997"^^xsd:string, "SNOMEDCT_US_2021_03_01:187230004"^^xsd:string, "UMLS_CUI:C0036205"^^xsd:string ; oboInOwl:hasExactSynonym "lung Sarcoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11335, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_13407 oboInOwl:hasDbXref "NCI:C35807"^^xsd:string, "UMLS_CUI:C1334067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13407"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypercalcemic sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11335 . obo:DOID_13408 oboInOwl:hasExactSynonym "metastatic tumor to the Pleura"@en, "secondary malignant neoplasm of pleura"@en, "secondary malignant neoplasm of pleura (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13408"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to pleura"^^xsd:string ; owl:deprecated true . obo:DOID_13409 oboInOwl:hasDbXref "ICD10CM:K83.2"^^xsd:string, "ICD9CM:576.3"^^xsd:string, "NCI:C78528"^^xsd:string, "SNOMEDCT_US_2021_03_01:37439003"^^xsd:string, "UMLS_CUI:C0156218"^^xsd:string ; oboInOwl:hasExactSynonym "Perforation of bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13409"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perforation of bile duct"^^xsd:string ; rdfs:subClassOf obo:DOID_9741 . obo:DOID_1341 oboInOwl:hasExactSynonym "Congenital anemia"@en, "Congenital anemia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1341"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital anemia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_13413 obo:IAO_0000115 "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:10452"^^xsd:string, "ICD10CM:K72"^^xsd:string, "ICD9CM:572.2"^^xsd:string, "MESH:D006501"^^xsd:string, "NCI:C79596"^^xsd:string, "SNOMEDCT_US_2021_03_01:197332007"^^xsd:string, "UMLS_CUI:C0019151"^^xsd:string ; oboInOwl:hasExactSynonym "Portal-systemic encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13413"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_13416 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13416"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_13417 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize text."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4427"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:315.01"^^xsd:string, "MESH:D004410"^^xsd:string, "MESH:D004411"^^xsd:string, "SNOMEDCT_US_2021_03_01:9236007"^^xsd:string, "UMLS_CUI:C0002018"^^xsd:string, "UMLS_CUI:C0013388"^^xsd:string ; oboInOwl:hasExactSynonym "Aphemesthaesia"@en, "acquired dyslexia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13417"^^xsd:string ; a owl:Class ; rdfs:label "alexia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_13419 oboInOwl:hasDbXref "ICD9CM:564.81"^^xsd:string, "MESH:D055496"^^xsd:string, "SNOMEDCT_US_2021_03_01:425671009"^^xsd:string, "UMLS_CUI:C0695242"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13419"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic bowel"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_1342 oboInOwl:hasAlternativeId "DOID:13639"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D61.0"^^xsd:string, "ICD10CM:D61.01"^^xsd:string, "ICD9CM:284.0"^^xsd:string, "MESH:D029502"^^xsd:string, "SNOMEDCT_US_2021_03_01:191236003"^^xsd:string, "SNOMEDCT_US_2021_03_01:267523003"^^xsd:string, "UMLS_CUI:C0702159"^^xsd:string, "UMLS_CUI:C0949116"^^xsd:string ; oboInOwl:hasExactSynonym "congenital aplastic anaemia"@en, "congenital aplastic anemia"@en, "congenital hypoplastic anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Constitutional aplastic anaemia"@en ; oboInOwl:id "DOID:1342"^^xsd:string ; a owl:Class ; rdfs:label "congenital hypoplastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_12449, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_1343 oboInOwl:hasAlternativeId "DOID:2863"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N34.2"^^xsd:string, "ICD9CM:597.80"^^xsd:string, "MESH:D014526"^^xsd:string, "NCI:C26904"^^xsd:string, "SNOMEDCT_US_2021_03_01:154388003"^^xsd:string, "SNOMEDCT_US_2021_03_01:31822004"^^xsd:string, "UMLS_CUI:C0041976"^^xsd:string, "UMLS_CUI:C0311389"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Gonococcal Urethritis"@en, "Nongonococcal urethritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1343"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethritis"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_13431 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face."^^xsd:string ; oboInOwl:hasDbXref "GARD:5905"^^xsd:string, "MESH:D014211"^^xsd:string, "SNOMEDCT_US_2021_03_01:186978001"^^xsd:string, "UMLS_CUI:C0004945"^^xsd:string ; oboInOwl:hasExactSynonym "Njovera"@en, "Nonvenereal endemic syphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13431"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "bejel"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ] . obo:DOID_13444 obo:IAO_0000115 "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:9536"^^xsd:string, "ICD10CM:A24.0"^^xsd:string, "ICD9CM:024"^^xsd:string, "MESH:D005896"^^xsd:string, "NCI:C34638"^^xsd:string, "SNOMEDCT_US_2021_03_01:4639008"^^xsd:string, "UMLS_CUI:C0017589"^^xsd:string ; oboInOwl:hasExactSynonym "Farcy pipes"@en, "Infection due to Pseudomonas mallei"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13444"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "glanders"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_13446 oboInOwl:hasDbXref "ICD10CM:I65.1"^^xsd:string, "ICD9CM:433.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:78658006"^^xsd:string, "UMLS_CUI:C0265098"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13446"^^xsd:string ; a owl:Class ; rdfs:label "basilar artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_5976 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5976 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001633 ] ) ] . obo:DOID_13447 oboInOwl:hasDbXref "ICD10CM:H18.02"^^xsd:string, "ICD9CM:371.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:21328003"^^xsd:string, "UMLS_CUI:C0155108"^^xsd:string ; oboInOwl:hasExactSynonym "Argentous corneal deposits"@en, "Argyrosis of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13447"^^xsd:string ; a owl:Class ; rdfs:label "corneal argyrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_13448 oboInOwl:hasDbXref "ICD10CM:H18.05"^^xsd:string, "ICD9CM:371.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:11293004"^^xsd:string, "UMLS_CUI:C0155106"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior corneal pigmentations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13448"^^xsd:string ; a owl:Class ; rdfs:label "posterior corneal pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_11547 . obo:DOID_13450 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13981"^^xsd:string ; oboInOwl:hasDbXref "GARD:9525"^^xsd:string, "ICD10CM:B38"^^xsd:string, "ICD9CM:114"^^xsd:string, "MESH:D003047"^^xsd:string, "NCI:C84642"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "UMLS_CUI:C0009186"^^xsd:string ; oboInOwl:hasExactSynonym "primary extrapulmonary coccidioidomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "coccidioidomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5501 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000128 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_13452 oboInOwl:hasDbXref "GARD:12911"^^xsd:string, "ICD10CM:H15.0"^^xsd:string, "ICD9CM:379.00"^^xsd:string, "MESH:D015423"^^xsd:string, "NCI:C119046"^^xsd:string, "SNOMEDCT_US_2021_03_01:155201000"^^xsd:string, "UMLS_CUI:C0036416"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scleritis"^^xsd:string ; rdfs:subClassOf obo:DOID_11343 . obo:DOID_13453 oboInOwl:hasDbXref "ICD10CM:A54.49"^^xsd:string, "ICD9CM:098.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:186928003"^^xsd:string, "UMLS_CUI:C0153218"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal bursitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13453"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2965, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_13454 oboInOwl:hasDbXref "ICD9CM:098.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:186927008"^^xsd:string, "UMLS_CUI:C0343714"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal synovitis &/or tenosynovitis"@en, "Gonococcal synovitis and tenosynovitis"@en, "Gonococcal synovitis or tenosynovitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13454"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal synovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2703, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_13459 obo:IAO_0000115 "A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13458"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatitis in secondary syphilis (disorder)"@en, "Syphilis of liver (disorder)"@en, "secondary syphilis of liver"@en, "secondary syphilis of liver (disorder)"@en, "secondary syphilitic hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13459"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_13461 oboInOwl:hasDbXref "ICD10CM:N36.42"^^xsd:string, "ICD9CM:599.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:16031000119101"^^xsd:string, "UMLS_CUI:C0375381"^^xsd:string ; oboInOwl:hasExactSynonym "Intrinsic (urethral) sphincter deficiency [ISD]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13461"^^xsd:string ; a owl:Class ; rdfs:label "urethral intrinsic sphincter deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_13468 oboInOwl:hasExactSynonym "Genital syphilis"@en, "Genital syphilis (primary)"@en, "primary genital syphilis (disorder)"@en, "primary genital syphilis (disorder) [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13468"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary genital syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_13469 oboInOwl:hasExactSynonym "secondary syphilis of skin and mucous membrane (disorder)"@en, "secondary syphilis of skin or mucous membranes"@en, "secondary syphilis of skin or mucus membranes NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13469"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary cutaneous syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_13470 obo:IAO_0000115 "A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum."^^xsd:string ; oboInOwl:hasExactSynonym "primary anal syphilis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13470"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary anal syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_13471 oboInOwl:hasExactSynonym "Adenopathy due to secondary syphilis"@en, "secondary syphilitic adenopathy (disorder)"@en, "secondary syphilitic lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13471"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic lymphadenitis"^^xsd:string ; owl:deprecated true . obo:DOID_13473 obo:IAO_0000115 "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H11.02"^^xsd:string, "ICD9CM:372.43"^^xsd:string, "SNOMEDCT_US_2021_03_01:193882008"^^xsd:string, "UMLS_CUI:C0155156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13473"^^xsd:string ; a owl:Class ; rdfs:label "central pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_13474 . obo:DOID_13474 obo:IAO_0000115 "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:372.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:193881001"^^xsd:string, "UMLS_CUI:C0155155"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13474"^^xsd:string ; a owl:Class ; rdfs:label "progressive peripheral pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_10526 . obo:DOID_13476 oboInOwl:hasDbXref "ICD10CM:C32.1"^^xsd:string, "ICD9CM:161.1"^^xsd:string, "NCI:C3545"^^xsd:string, "SNOMEDCT_US_2021_03_01:187842004"^^xsd:string, "UMLS_CUI:C0153484"^^xsd:string ; oboInOwl:hasExactSynonym "Ca larynx - supraglottis"@en, "malignant Supraglottic tumor"@en, "malignant neoplasm of extrinsic larynx"@en, "malignant neoplasm of supraglottis"@en, "malignant tumor of supraglottis"@en, "supraglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supraglottis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2596 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036263 ] ) ] . obo:DOID_13477 obo:IAO_0000115 "A balantitis characterized by white plaques or patches on genitals."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:607.81"^^xsd:string, "NCI:C3523"^^xsd:string, "SNOMEDCT_US_2021_03_01:198028006"^^xsd:string, "UMLS_CUI:C0152460"^^xsd:string ; oboInOwl:hasExactSynonym "Penile Lichen Sclerosus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balanitis xerotica obliterans"^^xsd:string ; rdfs:subClassOf obo:DOID_13033 ; skos:exactMatch "MESH:D052798"^^xsd:string . obo:DOID_13480 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13480"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_13481 obo:IAO_0000115 "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:85"^^xsd:string, "ICD10CM:Q77.1"^^xsd:string, "MESH:D013796"^^xsd:string, "NCI:C85187"^^xsd:string, "OMIM:187600"^^xsd:string, "OMIM:187601"^^xsd:string, "OMIM:273680"^^xsd:string, "ORDO:1860"^^xsd:string, "ORDO:2655"^^xsd:string, "ORDO:93274"^^xsd:string, "ORDO:93275"^^xsd:string, "SNOMEDCT_US_2021_03_01:29352008"^^xsd:string, "UMLS_CUI:C0039743"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13481"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "thanatophoric dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 ; skos:exactMatch "MESH:D013796"^^xsd:string . obo:DOID_13482 obo:IAO_0000115 "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues."^^xsd:string ; oboInOwl:hasDbXref "GARD:7475"^^xsd:string, "MESH:D016715"^^xsd:string, "NCI:C85032"^^xsd:string, "OMIM:176920"^^xsd:string, "SNOMEDCT_US_2021_03_01:394527003"^^xsd:string, "UMLS_CUI:C0085261"^^xsd:string ; oboInOwl:hasExactSynonym "Wiedemann's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Proteus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080191 . obo:DOID_13484 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13484"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized type schizophrenia chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13487 obo:IAO_0000115 "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress."^^xsd:string ; oboInOwl:hasDbXref "GARD:6040"^^xsd:string, "ICD10CM:F84.3"^^xsd:string, "ICD9CM:299.1"^^xsd:string, "NCI:C97164"^^xsd:string, "SNOMEDCT_US_2021_03_01:71961003"^^xsd:string, "UMLS_CUI:C0236791"^^xsd:string ; oboInOwl:hasExactSynonym "Disintegrative psychosis"@en, "Heller's syndrome"@en, "Symbiotic psychosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13487"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood disintegrative disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060040, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_13490 oboInOwl:hasDbXref "ICD9CM:386.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:194348002"^^xsd:string, "UMLS_CUI:C0155496"^^xsd:string ; oboInOwl:hasExactSynonym "Cochleovestibular active Mnire's disease"@en, "active Meniere's disease, cochleovestibular"@en, "active cochleovestibular Meniere disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13490"^^xsd:string ; a owl:Class ; rdfs:label "active cochleovestibular Meniere's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9849 . obo:DOID_13491 oboInOwl:hasDbXref "ICD9CM:386.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:194350005"^^xsd:string, "UMLS_CUI:C0155498"^^xsd:string ; oboInOwl:hasExactSynonym "Vestibular active Mnire's disease"@en, "active Meniere's disease, vestibular"@en, "active vestibular Meniere disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13491"^^xsd:string ; a owl:Class ; rdfs:label "active vestibular Meniere's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9849 . obo:DOID_13492 oboInOwl:hasDbXref "ICD9CM:386.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:194349005"^^xsd:string, "UMLS_CUI:C0155497"^^xsd:string ; oboInOwl:hasExactSynonym "Cochlear active Mnire's disease"@en, "active Meniere's disease, cochlear"@en, "active cochlear Meniere disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13492"^^xsd:string ; a owl:Class ; rdfs:label "active cochlear Meniere's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9849 . obo:DOID_13498 oboInOwl:hasDbXref "ICD10CM:N34.3"^^xsd:string, "ICD9CM:597.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:31273004"^^xsd:string, "UMLS_CUI:C0156279"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13498"^^xsd:string ; a owl:Class ; rdfs:label "urethral syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_13499 oboInOwl:hasDbXref "ICD10CM:C17.1"^^xsd:string, "ICD9CM:152.1"^^xsd:string, "MESH:D007580"^^xsd:string, "NCI:C170919"^^xsd:string, "SNOMEDCT_US_2021_03_01:93846004"^^xsd:string, "UMLS_CUI:C0153427"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of jejunum"@en, "malignant tumor of jejunum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13499"^^xsd:string ; oboInOwl:inSubset doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "jejunal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002115 ] ) ] . obo:DOID_135 obo:IAO_0000115 "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40275"^^xsd:string, "UMLS_CUI:C1511106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:135"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign vaginal carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114 . obo:DOID_1350 oboInOwl:hasDbXref "MESH:D010255"^^xsd:string, "NCI:C7488"^^xsd:string, "SNOMEDCT_US_2021_03_01:126675008"^^xsd:string, "UMLS_CUI:C0030470"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of accessory sinus"@en, "tumor of Accessory sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_1352 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ) ] . obo:DOID_13500 oboInOwl:hasDbXref "MESH:D014064"^^xsd:string, "NCI:C35075"^^xsd:string, "SNOMEDCT_US_2021_03_01:81934005"^^xsd:string, "UMLS_CUI:C0040414"^^xsd:string ; oboInOwl:hasExactSynonym "Hairy Tongue"@en, "Overgrowth of filiform papillae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hairy tongue"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 . obo:DOID_13501 obo:IAO_0000115 "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)."^^xsd:string ; oboInOwl:hasDbXref "GARD:8549"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:D020331"^^xsd:string, "NCI:C84893"^^xsd:string, "OMIM:157900"^^xsd:string, "SNOMEDCT_US_2021_03_01:89444000"^^xsd:string, "UMLS_CUI:C0221060"^^xsd:string ; oboInOwl:hasExactSynonym "Moebius congenital oculofacial paralysis"@en, "Oromandibular-limb hypogenesis spectrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Mobius syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1756, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_13507 oboInOwl:hasDbXref "ICD10CM:N30.3"^^xsd:string, "ICD9CM:595.3"^^xsd:string, "NCI:C123175"^^xsd:string, "SNOMEDCT_US_2021_03_01:155885003"^^xsd:string, "UMLS_CUI:C1261278"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13507"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trigonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_13514 oboInOwl:hasDbXref "ICD9CM:362.36"^^xsd:string, "UMLS_CUI:C0154842"^^xsd:string ; oboInOwl:hasExactSynonym "Venous tributary (branch) occlusion of retina"@en, "Venous tributary branch occlusion of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13514"^^xsd:string ; a owl:Class ; rdfs:label "venous tributary occlusion of retina"^^xsd:string ; rdfs:subClassOf obo:DOID_1729 . obo:DOID_13515 obo:IAO_0000115 "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:7830"^^xsd:string, "ICD10CM:Q85.1"^^xsd:string, "ICD9CM:759.5"^^xsd:string, "MESH:D014402"^^xsd:string, "NCI:C3424"^^xsd:string, "OMIM:PS191100"^^xsd:string, "SNOMEDCT_US_2021_03_01:157033002"^^xsd:string, "UMLS_CUI:C0041341"^^xsd:string ; oboInOwl:hasExactSynonym "Bourneville's disease"@en, "Epiloia"@en, "Tuberose sclerosis"@en, "Tuberous sclerosis syndrome"@en, "cerebral sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13515"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tuberous sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 [ a owl:Restriction ; owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ; owl:onClass obo:SO_0000704 ; owl:onProperty obo:RO_0004026 ] ) ] ] . obo:DOID_13518 oboInOwl:hasAlternativeId "DOID:13885"^^xsd:string, "DOID:14206"^^xsd:string, "DOID:14207"^^xsd:string, "DOID:14208"^^xsd:string, "DOID:14209"^^xsd:string, "DOID:14211"^^xsd:string, "DOID:14212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13518"^^xsd:string ; a owl:Class ; rdfs:label "obsolete stiffness of joint"^^xsd:string ; owl:deprecated true . obo:DOID_1352 oboInOwl:hasDbXref "MESH:D010254"^^xsd:string, "NCI:C26843"^^xsd:string, "SNOMEDCT_US_2021_03_01:7393007"^^xsd:string, "UMLS_CUI:C0030469"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of nasal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1352"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2825 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ) ] . obo:DOID_13520 oboInOwl:hasDbXref "ICD10CM:P39.0"^^xsd:string, "ICD9CM:771.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:3468005"^^xsd:string, "UMLS_CUI:C0158948"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13520"^^xsd:string ; a owl:Class ; rdfs:label "neonatal infective mastitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10690 . obo:DOID_13521 obo:IAO_0000115 "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A33"^^xsd:string, "ICD9CM:771.3"^^xsd:string, "NCI:C116814"^^xsd:string, "SNOMEDCT_US_2021_03_01:43424001"^^xsd:string, "UMLS_CUI:C0343312"^^xsd:string ; oboInOwl:hasExactSynonym "Tetanus neonatorum"@en, "neonatal tetanus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tetanus neonatorum"^^xsd:string ; rdfs:subClassOf obo:DOID_11338 . obo:DOID_13523 obo:IAO_0000115 "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:3283"^^xsd:string, "ICD10CM:B74.3"^^xsd:string, "ICD9CM:125.2"^^xsd:string, "MESH:D008118"^^xsd:string, "NCI:C34784"^^xsd:string, "SNOMEDCT_US_2021_03_01:44250009"^^xsd:string, "UMLS_CUI:C0023968"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13523"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "loiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, obo:DOID_5614, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_13526 obo:IAO_0000115 "A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly."^^xsd:string ; oboInOwl:hasExactSynonym "Candidal endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13526"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_13527 obo:IAO_0000115 "A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis."^^xsd:string ; oboInOwl:hasExactSynonym "Candidal otitis externa (disorder)"@en, "Candidal: [otitis externa] or [otomycosis]"@en, "otomycosis in moniliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13527"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal otitis externa"^^xsd:string ; owl:deprecated true . obo:DOID_13528 obo:IAO_0000115 "A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration."^^xsd:string ; oboInOwl:hasExactSynonym "gastrointestinal candidiasis (disorder)"@en, "intestinal moniliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13528"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal enteritis"^^xsd:string ; owl:deprecated true . obo:DOID_13533 obo:IAO_0000115 "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones."^^xsd:string ; oboInOwl:hasDbXref "GARD:4155"^^xsd:string, "ICD10CM:Q78.2"^^xsd:string, "ICD9CM:756.52"^^xsd:string, "MESH:D010022"^^xsd:string, "NCI:C26840"^^xsd:string, "OMIM:PS259700"^^xsd:string, "OMIM:PS607634"^^xsd:string, "ORDO:667"^^xsd:string, "SNOMEDCT_US_2021_03_01:205500005"^^xsd:string, "UMLS_CUI:C0029454"^^xsd:string ; oboInOwl:hasExactSynonym "Albers-Schonberg disease"@en, "marble bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13533"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "osteopetrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4254 . obo:DOID_13534 obo:IAO_0000115 "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:24817009"^^xsd:string, "UMLS_CUI:C0155506"^^xsd:string ; oboInOwl:hasExactSynonym "Suppurative labyrinthitis"@en, "bacterial labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acute suppurative labyrinthitis"@en ; oboInOwl:id "DOID:13534"^^xsd:string ; a owl:Class ; rdfs:label "purulent labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468 . obo:DOID_13535 oboInOwl:hasExactSynonym "Mast cell malignancy of intrapelvic lymph nodes (disorder)"@en, "malignant mast cell tumors involving intrapelvic lymph nodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intrapelvic lymph node mast cell malignancy"^^xsd:string ; owl:deprecated true . obo:DOID_13538 oboInOwl:hasDbXref "NCI:C4552"^^xsd:string, "SNOMEDCT_US_2021_03_01:255008003"^^xsd:string, "UMLS_CUI:C0346366"^^xsd:string ; oboInOwl:hasExactSynonym "Corneal Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13538"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cornea squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_6199, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] . obo:DOID_13543 obo:IAO_0000115 "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E21.3"^^xsd:string, "ICD9CM:252.0"^^xsd:string, "MESH:D006961"^^xsd:string, "NCI:C48259"^^xsd:string, "OMIM:145000"^^xsd:string, "OMIM:145001"^^xsd:string, "OMIM:610071"^^xsd:string, "ORDO:99879"^^xsd:string, "SNOMEDCT_US_2021_03_01:190451000"^^xsd:string, "UMLS_CUI:C0020502"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13543"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_11201, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011767 ] . obo:DOID_13544 obo:IAO_0000115 "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.12"^^xsd:string, "ICD9CM:365.12"^^xsd:string, "MESH:D057066"^^xsd:string, "SNOMEDCT_US_2021_03_01:155124000"^^xsd:string, "UMLS_CUI:C0152136"^^xsd:string ; oboInOwl:hasExactSynonym "Normal tension glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13544"^^xsd:string ; a owl:Class ; rdfs:label "low tension glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1067 . obo:DOID_13548 oboInOwl:hasDbXref "ICD10CM:G21"^^xsd:string, "ICD9CM:332.1"^^xsd:string, "MESH:D010302"^^xsd:string, "NCI:C34899"^^xsd:string, "SNOMEDCT_US_2021_03_01:230292008"^^xsd:string, "UMLS_CUI:C0030569"^^xsd:string ; oboInOwl:hasExactSynonym "Symptomatic parkinsonism"@en, "disorder presenting primarily with parkinsonism"@en, "secondary Parkinsonism"@en, "secondary parkinsonism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13548"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secondary Parkinson disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_13549 obo:IAO_0000115 "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.23"^^xsd:string, "ICD9CM:365.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:65460003"^^xsd:string, "UMLS_CUI:C0154945"^^xsd:string ; oboInOwl:hasExactSynonym "Angle-closure glaucoma, subacute"@en, "Intermittent angle-closure glaucoma"@en, "Prodromal angle closure glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13549"^^xsd:string ; a owl:Class ; rdfs:label "interval angle-closure glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1405 . obo:DOID_1355 oboInOwl:hasDbXref "NCI:C6068"^^xsd:string, "UMLS_CUI:C1335339"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Accessory sinus"@en, "lymphoma of paranasal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1355"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619, obo:DOID_0060058, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_13550 obo:IAO_0000115 "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015812"^^xsd:string, "NCI:C34639"^^xsd:string, "SNOMEDCT_US_2021_03_01:270882001"^^xsd:string, "UMLS_CUI:C0017605"^^xsd:string ; oboInOwl:hasExactSynonym "ACG - Angle-closure glaucoma"@en, "Angle Closure Glaucoma"@en, "Angle-closure glaucoma"@en, "Closed angle glaucoma"@en, "Narrow cleft glaucoma"@en, "primary open-angle glaucoma with narrow angles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13550"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angle-closure glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_13554 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13554"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_13555 oboInOwl:hasExactSynonym "Gonococcal infection of pharynx"@en, "Gonorrhea of pharynx (disorder)"@en, "gonococcal pharyngitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13555"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete pharyngeal gonorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_13556 oboInOwl:hasExactSynonym "Gonococcal blennorrhagica"@en, "Gonococcal keratosis (blennorrhagica)"@en, "Gonococcal keratosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13556"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal keratosis"^^xsd:string ; owl:deprecated true . obo:DOID_13558 oboInOwl:hasExactSynonym "Gonococcal Urethritis"@en, "Gonococcal urethritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13558"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_1356 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1356"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphoma by site"^^xsd:string ; owl:deprecated true . obo:DOID_13560 obo:IAO_0000115 "An uterine fibroid that is located adjacent to the outside of the uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D25.2"^^xsd:string, "ICD9CM:218.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:95280005"^^xsd:string, "UMLS_CUI:C0153995"^^xsd:string ; oboInOwl:hasExactSynonym "Subserous leiomyoma of uterus"@en, "subserous leiomyoma of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13560"^^xsd:string ; a owl:Class ; rdfs:label "subserous uterine fibroid"^^xsd:string ; rdfs:subClassOf obo:DOID_13223 . obo:DOID_13561 oboInOwl:hasDbXref "ICD10CM:H47.32"^^xsd:string, "ICD9CM:377.21"^^xsd:string, "MESH:D015594"^^xsd:string, "SNOMEDCT_US_2021_03_01:33629003"^^xsd:string, "UMLS_CUI:C0029128"^^xsd:string ; oboInOwl:hasExactSynonym "Drusen of optic disc"@en, "optic nerve head drusen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13561"^^xsd:string ; a owl:Class ; rdfs:label "optic disk drusen"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_13562 oboInOwl:hasExactSynonym "Glaucoma associated with pupillary block (disorder)"@en, "secondary angle-closure glaucoma with pupil block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13562"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with pupillary block"^^xsd:string ; owl:deprecated true . obo:DOID_13564 obo:IAO_0000115 "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system."^^xsd:string ; oboInOwl:hasDbXref "GARD:5856"^^xsd:string, "ICD10CM:B44"^^xsd:string, "ICD9CM:117.3"^^xsd:string, "MESH:D001228"^^xsd:string, "NCI:C2886"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "UMLS_CUI:C0004030"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Aspergillus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13564"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aspergillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_5052 ] ; skos:exactMatch "MESH:D001228"^^xsd:string . obo:DOID_13565 obo:IAO_0000115 "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020953"^^xsd:string, "UMLS_CUI:C0752342"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13565"^^xsd:string ; a owl:Class ; rdfs:label "neuroaspergillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_13564, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ; skos:exactMatch "MESH:D020953"^^xsd:string . obo:DOID_13566 oboInOwl:hasDbXref "ICD9CM:726.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:202869006"^^xsd:string, "UMLS_CUI:C0158315"^^xsd:string ; oboInOwl:hasExactSynonym "Tibial collateral ligament bursitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13566"^^xsd:string ; a owl:Class ; rdfs:label "tibial collateral ligament bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204 . obo:DOID_1357 oboInOwl:hasAlternativeId "DOID:2372"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C31.0"^^xsd:string, "ICD9CM:160.2"^^xsd:string, "NCI:C3540"^^xsd:string, "NCI:C9332"^^xsd:string, "SNOMEDCT_US_2021_03_01:93889000"^^xsd:string, "UMLS_CUI:C0153476"^^xsd:string, "UMLS_CUI:C0740487"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of antrum"@en, "malignant tumor of the maxillary sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1357"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001764 ] ) ] . obo:DOID_13573 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13573"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_13574 obo:IAO_0000115 "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:193588001"^^xsd:string, "UMLS_CUI:C0154980"^^xsd:string ; oboInOwl:hasExactSynonym "Cortical senile cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13574"^^xsd:string ; a owl:Class ; rdfs:label "cortical senile cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_13575 oboInOwl:hasDbXref "ICD9CM:252.02"^^xsd:string, "UMLS_CUI:C1456268"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13575"^^xsd:string ; a owl:Class ; rdfs:label "non-renal secondary hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_13543 . obo:DOID_13576 oboInOwl:hasDbXref "ICD10CM:O43.02"^^xsd:string, "MESH:D005330"^^xsd:string, "NCI:C113824"^^xsd:string, "SNOMEDCT_US_2021_03_01:13404009"^^xsd:string, "UMLS_CUI:C2909036"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal blood loss from fetal hemorrhage into co-twin"@en, "Fetal hemorrhage into co-twin"@en, "Twin to twin transfusion"@en, "Twin-to-twin blood transfer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13576"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "twin-to-twin transfusion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11244 . obo:DOID_13577 oboInOwl:hasExactSynonym "Ascorbic acid (vitamin C) deficiency"@en, "Ascorbic acid defic."@en, "Ascorbic acid deficiency"@en, "Ascorbic acid deficiency (disorder)"@en, "deficiency of ascorbic acid (disorder)"@en, "deficiency of vitamin C"@en, "vitamin C deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13577"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ascorbic acid deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_13579 obo:IAO_0000115 "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E40"^^xsd:string, "ICD9CM:260"^^xsd:string, "MESH:D007732"^^xsd:string, "SNOMEDCT_US_2021_03_01:154730001"^^xsd:string, "UMLS_CUI:C0022806"^^xsd:string ; oboInOwl:hasExactSynonym "Kwashiokor"@en, "Nutritional edema with dyspigmentation of skin and hair"@en, "Nutritional oedema with dyspigmentation of skin and/or hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13579"^^xsd:string ; a owl:Class ; rdfs:label "kwashiorkor"^^xsd:string ; rdfs:subClassOf obo:DOID_11801, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1358 oboInOwl:hasDbXref "MESH:D008444"^^xsd:string, "NCI:C3219"^^xsd:string, "SNOMEDCT_US_2021_03_01:126676009"^^xsd:string, "UMLS_CUI:C0024958"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of maxillary sinus"@en, "tumor of Maxillofacial sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1358"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1350 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001764 ] ) ] . obo:DOID_13580 obo:IAO_0000115 "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K83.1"^^xsd:string, "ICD9CM:576.2"^^xsd:string, "MESH:D002779"^^xsd:string, "NCI:C83006"^^xsd:string, "SNOMEDCT_US_2021_03_01:33688009"^^xsd:string, "UMLS_CUI:C0008370"^^xsd:string ; oboInOwl:hasExactSynonym "Obstruction of bile duct"@en, "bile occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 . obo:DOID_13581 oboInOwl:hasExactSynonym "Magnesium deficiency"@en, "Magnesium deficiency (disorder)"@en, "magnesium deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13581"^^xsd:string ; a owl:Class ; rdfs:label "obsolete magnesium deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_13582 oboInOwl:hasExactSynonym "K deficiency"@en, "potassium deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13582"^^xsd:string ; a owl:Class ; rdfs:label "obsolete potassium deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_13583 oboInOwl:hasExactSynonym "disorder of fetal nutrition (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13583"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal nutrition disorder"^^xsd:string ; owl:deprecated true . obo:DOID_13585 oboInOwl:hasDbXref "ICD10CM:M27.3"^^xsd:string, "ICD9CM:526.5"^^xsd:string, "MESH:D004368"^^xsd:string, "SNOMEDCT_US_2021_03_01:251331003"^^xsd:string, "UMLS_CUI:C0013240"^^xsd:string ; oboInOwl:hasExactSynonym "Alveolar periostitis"@en, "Alveolitis of jaw"@en, "Dry socket"@en, "Dry tooth socket"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13585"^^xsd:string ; a owl:Class ; rdfs:label "alveolar periostitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9957 . obo:DOID_13589 obo:IAO_0000115 "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N97.2"^^xsd:string, "ICD9CM:628.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:156063002"^^xsd:string, "UMLS_CUI:C0156416"^^xsd:string ; oboInOwl:hasExactSynonym "Infertility, female, of uterine origin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13589"^^xsd:string ; a owl:Class ; rdfs:label "female infertility of uterine origin"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_13593 obo:IAO_0000115 "A pre-eclampsia characterized by the presence of seizures."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13592"^^xsd:string ; oboInOwl:hasDbXref "GARD:6316"^^xsd:string, "ICD10CM:O15"^^xsd:string, "MESH:D004461"^^xsd:string, "NCI:C87167"^^xsd:string, "SNOMEDCT_US_2021_03_01:156111007"^^xsd:string, "UMLS_CUI:C0013537"^^xsd:string ; oboInOwl:hasExactSynonym "Eclampsia in puerperium"@en, "Eclampsia, postpartum"@en, "Postpartum eclampsia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10591 . obo:DOID_136 obo:IAO_0000115 "A vaginal carcinoma that has_material_basis in connective tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1904"^^xsd:string, "DOID:6172"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40274"^^xsd:string, "NCI:C40276"^^xsd:string, "NCI:C40278"^^xsd:string, "UMLS_CUI:C1512974"^^xsd:string, "UMLS_CUI:C1519918"^^xsd:string, "UMLS_CUI:C1519924"^^xsd:string ; oboInOwl:hasExactSynonym "malignant vaginal mixed epithelial and mesenchymal tumor"@en, "vaginal malignant mixed Mullerian tumor"@en, "vaginal malignant mixed mesodermal (mullerian) tumor"@en, "vaginal mixed epithelial and mesenchymal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:136"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050918 . obo:DOID_1360 oboInOwl:hasDbXref "ICD10CM:C31.2"^^xsd:string, "ICD9CM:160.4"^^xsd:string, "NCI:C3542"^^xsd:string, "SNOMEDCT_US_2021_03_01:93808006"^^xsd:string, "UMLS_CUI:C0153478"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of frontal sinus"@en, "malignant tumor of frontal sinus"@en, "malignant tumor of the Frontal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1360"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001760 ] ) ] . obo:DOID_13601 obo:IAO_0000115 "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea."^^xsd:string ; oboInOwl:hasExactSynonym "Enteropathogenic Escherichia coli gastrointestinal tract infection"@en, "Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder)"@en, "intestinal infection due to enteropathogenic E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13601"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete enteropathogenic Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13602 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13602"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13603 oboInOwl:hasDbXref "MESH:D041781"^^xsd:string, "NCI:C34742"^^xsd:string, "SNOMEDCT_US_2021_03_01:59848001"^^xsd:string, "UMLS_CUI:C0022354"^^xsd:string ; oboInOwl:hasExactSynonym "Cholestatic Jaundice"@en, "Cholestatic jaundice syndrome"@en, "Obstructive hyperbilirubinemia"@en, "Obstructive jaundice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obstructive jaundice"^^xsd:string ; rdfs:subClassOf obo:DOID_13580 . obo:DOID_13604 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_13605 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13605"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13608 obo:IAO_0000115 "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "GARD:12010"^^xsd:string, "ICD10CM:Q44.2"^^xsd:string, "ICD9CM:751.61"^^xsd:string, "MESH:D001656"^^xsd:string, "NCI:C34421"^^xsd:string, "OMIM:210500"^^xsd:string, "ORDO:30391"^^xsd:string, "SNOMEDCT_US_2021_03_01:77480004"^^xsd:string, "UMLS_CUI:C0005411"^^xsd:string ; oboInOwl:hasExactSynonym "Atresia of bile duct"@en, "Congenital biliary atresia"@en, "biliary atresia, congenital"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13608"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "biliary atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_13580 . obo:DOID_1361 oboInOwl:hasDbXref "NCI:C4419"^^xsd:string, "SNOMEDCT_US_2021_03_01:126678005"^^xsd:string, "UMLS_CUI:C0345672"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of frontal sinus"@en, "tumor of the Frontal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1350 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001760 ] ) ] . obo:DOID_13619 oboInOwl:hasDbXref "MESH:D001651"^^xsd:string, "NCI:C34420"^^xsd:string, "SNOMEDCT_US_2021_03_01:20719006"^^xsd:string, "UMLS_CUI:C0005398"^^xsd:string ; oboInOwl:hasExactSynonym "extrahepatic biliary Stasis"@en, "extrahepatic obstructive biliary disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13619"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_13580 . obo:DOID_1362 obo:IAO_0000115 "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6849"^^xsd:string, "UMLS_CUI:C1335342"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of Accessory sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1362"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619, obo:DOID_1115, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_13620 oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "MESH:D054092"^^xsd:string, "NCI:C34619"^^xsd:string, "SNOMEDCT_US_2021_03_01:268316001"^^xsd:string, "UMLS_CUI:C0016522"^^xsd:string ; oboInOwl:hasExactSynonym "Atrial septal defect within oval fossa"@en, "Defect, Patent or persistent, ostium secundum"@en, "Ostium secundum type atrial septal defect"@en, "Persistent ostium secundum"@en, "foramen ovale patent"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13620"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "patent foramen ovale"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_13622 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13621"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002169"^^xsd:string, "SNOMEDCT_US_2021_03_01:86500004"^^xsd:string, "UMLS_CUI:C0006818"^^xsd:string ; oboInOwl:hasExactSynonym "Campylobacteriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13622"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "campylobacteriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_2326, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005409 ] . obo:DOID_13623 obo:IAO_0000115 "A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea."^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcal enterocolitis (disorder)"@en, "intestinal infection due to staphylococcus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13623"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal enterocolitis"^^xsd:string ; owl:deprecated true . obo:DOID_13626 oboInOwl:hasDbXref "ICD10CM:H16.13"^^xsd:string, "ICD9CM:370.24"^^xsd:string, "NCI:C118750"^^xsd:string, "SNOMEDCT_US_2021_03_01:1714005"^^xsd:string, "UMLS_CUI:C0155078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "photokeratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_13628 obo:IAO_0000115 "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D55.0"^^xsd:string, "MESH:D005236"^^xsd:string, "NCI:C34607"^^xsd:string, "SNOMEDCT_US_2021_03_01:154801000"^^xsd:string, "UMLS_CUI:C0015702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13628"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "favism"^^xsd:string ; rdfs:subClassOf obo:DOID_2862 . obo:DOID_13629 oboInOwl:hasDbXref "ICD9CM:521.32"^^xsd:string, "UMLS_CUI:C1456162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13629"^^xsd:string ; a owl:Class ; rdfs:label "dentine erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_2498 . obo:DOID_1363 oboInOwl:hasDbXref "ICD10CM:C31.1"^^xsd:string, "ICD9CM:160.3"^^xsd:string, "NCI:C3541"^^xsd:string, "SNOMEDCT_US_2021_03_01:363426009"^^xsd:string, "UMLS_CUI:C0153477"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of ethmoidal sinus"@en, "malignant tumor of ethmoid sinus"@en, "malignant tumor of ethmoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1363"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002453 ] ) ] . obo:DOID_13636 obo:IAO_0000115 "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair."^^xsd:string ; oboInOwl:hasDbXref "GARD:6425"^^xsd:string, "ICD10CM:D61.09"^^xsd:string, "MESH:D005199"^^xsd:string, "NCI:C62505"^^xsd:string, "OMIM:PS227650"^^xsd:string, "ORDO:84"^^xsd:string, "SNOMEDCT_US_2021_03_01:30575002"^^xsd:string, "UMLS_CUI:C0015625"^^xsd:string ; oboInOwl:hasExactSynonym "Fanconi anaemia"@en, "Fanconi pancytopenia"@en, "Fanconi panmyelopathy"@en, "Fanconi's anaemia"@en, "Fanconi's anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13636"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "Fanconi anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1342 . obo:DOID_1364 oboInOwl:hasDbXref "NCI:C4416"^^xsd:string, "SNOMEDCT_US_2021_03_01:126677000"^^xsd:string, "UMLS_CUI:C0345668"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of ethmoidal sinus"@en, "tumor of ethmoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1364"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoidal sinus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1350 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002453 ] ) ] . obo:DOID_13641 obo:IAO_0000115 "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004235"^^xsd:string, "ICD9CM:365.52"^^xsd:string, "MESH:D017889"^^xsd:string, "NCI:C129025"^^xsd:string, "OMIM:177650"^^xsd:string, "SNOMEDCT_US_2021_03_01:111514006"^^xsd:string, "UMLS_CUI:C0206368"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudoexfoliation glaucoma"@en, "Pseudoexfoliation syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "exfoliation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12571, obo:DOID_240, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001769 ] ; skos:exactMatch "MESH:D017889"^^xsd:string . obo:DOID_13643 oboInOwl:hasExactSynonym "Pneumococcal septicemia (disorder)"@en, "Pneumococcal septicemia [Streptococcus pneumoniae septicemia]"@en, "Septicaemia due to streptococcus pneumoniae"@en, "Septicemia due to streptococcus pneumoniae (disorder)"@en, "Streptococcus pneumoniae septicemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13643"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_13644 oboInOwl:hasExactSynonym "Streptococcal septicemia (disorder)"@en, "Streptococcal septicemia, unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13644"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_13648 oboInOwl:hasAlternativeId "DOID:13647"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13648"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid state"^^xsd:string ; owl:deprecated true . obo:DOID_13649 oboInOwl:hasDbXref "ICD9CM:357.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:193177003"^^xsd:string, "UMLS_CUI:C0154759"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13649"^^xsd:string ; a owl:Class ; rdfs:label "polyneuropathy in collagen vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1389 . obo:DOID_13650 oboInOwl:hasAlternativeId "DOID:13851"^^xsd:string, "DOID:14229"^^xsd:string, "DOID:14273"^^xsd:string, "DOID:14281"^^xsd:string, "DOID:7102"^^xsd:string, "DOID:9932"^^xsd:string ; oboInOwl:hasExactSynonym "Joint disorder NOS, of ankle and foot (disorder)"@en, "Joint disorder NOS, of multiple sites"@en, "Joint disorder NOS, of multiple sites (disorder)"@en, "Joint disorder NOS, of shoulder region"@en, "Joint disorder NOS, of shoulder region (disorder)"@en, "Joint disorder NOS, of the forearm"@en, "Joint disorder NOS, of the forearm (disorder)"@en, "Joint disorder NOS, of the lower leg"@en, "Joint disorder NOS, of the lower leg (disorder)"@en, "Joint disorder NOS, of the pelvic region and thigh"@en, "Joint disorder NOS, of the pelvic region and thigh (disorder)"@en, "Joint disorder NOS, of the upper arm"@en, "Joint disorder NOS, of the upper arm (disorder)"@en, "Unspecified disorder of ankle and foot joint"@en, "Unspecified disorder of forearm joint"@en, "Unspecified disorder of joint of pelvic region and thigh"@en, "Unspecified disorder of joint of shoulder region"@en, "Unspecified disorder of lower leg joint"@en, "Unspecified disorder of upper arm joint"@en, "Unspecified joint disorder of multiple sites"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13650"^^xsd:string ; a owl:Class ; rdfs:label "obsolete joint disorder"^^xsd:string ; owl:deprecated true . obo:DOID_13651 oboInOwl:hasDbXref "ICD10CM:H04.52"^^xsd:string, "ICD9CM:375.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:28244003"^^xsd:string, "UMLS_CUI:C0155243"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13651"^^xsd:string ; a owl:Class ; rdfs:label "eversion of lacrimal punctum"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_13653 oboInOwl:hasDbXref "ICD10CM:H04.56"^^xsd:string, "ICD9CM:375.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:74783009"^^xsd:string, "UMLS_CUI:C0155244"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13653"^^xsd:string ; a owl:Class ; rdfs:label "stenosis of lacrimal punctum"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_13654 oboInOwl:hasDbXref "ICD10CM:H04.54"^^xsd:string, "ICD9CM:375.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:81345003"^^xsd:string, "UMLS_CUI:C0155245"^^xsd:string ; oboInOwl:hasExactSynonym "Stenosis of lacrimal canaliculi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13654"^^xsd:string ; a owl:Class ; rdfs:label "stenosis of lacrimal passage"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_13655 oboInOwl:hasDbXref "ICD10CM:H04.55"^^xsd:string, "ICD9CM:375.56"^^xsd:string, "SNOMEDCT_US_2021_03_01:90056003"^^xsd:string, "UMLS_CUI:C0155248"^^xsd:string ; oboInOwl:hasExactSynonym "Stenosis of nasolacrimal duct, acquired"@en, "Tear duct - acquired stenosis"@en, "acquired nasolacrimal duct stenosis"@en, "acquired stenosis of nasolacrimal duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13655"^^xsd:string ; a owl:Class ; rdfs:label "acquired tear duct stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_13656 oboInOwl:hasDbXref "ICD9CM:251.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:47344007"^^xsd:string, "UMLS_CUI:C0000774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13656"^^xsd:string ; a owl:Class ; rdfs:label "gastrin secretion abnormality"^^xsd:string ; rdfs:subClassOf obo:DOID_1428 . obo:DOID_13658 oboInOwl:hasDbXref "ICD9CM:598.01"^^xsd:string, "UMLS_CUI:C0156282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13658"^^xsd:string ; a owl:Class ; rdfs:label "infective urethral stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_1829 . obo:DOID_13662 oboInOwl:hasDbXref "ICD10CM:K62.6"^^xsd:string, "ICD9CM:569.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:197227009"^^xsd:string, "UMLS_CUI:C0400832"^^xsd:string ; oboInOwl:hasExactSynonym "anal and rectal ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13662"^^xsd:string ; a owl:Class ; rdfs:label "ulcer of anus and rectum"^^xsd:string ; rdfs:subClassOf obo:DOID_1285 . obo:DOID_13663 obo:IAO_0000115 "A purulent acute otitis media with no perforation of the tympanic membrane."^^xsd:string ; oboInOwl:hasExactSynonym "acute suppurative otitis media without spontaneous rupture of ear drum"@en, "acute suppurative otitis media without spontaneous rupture of ear drum (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13663"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute suppurative otitis media with tympanic membrane intact"^^xsd:string ; owl:deprecated true . obo:DOID_13664 oboInOwl:hasDbXref "ICD10CM:G04.02"^^xsd:string, "MESH:D004673"^^xsd:string, "SNOMEDCT_US_2021_03_01:31367003"^^xsd:string, "UMLS_CUI:C0751101"^^xsd:string ; oboInOwl:hasExactSynonym "Encephalitis following immunization procedures"@en, "Postvaccinal encephalomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13664"^^xsd:string ; a owl:Class ; rdfs:label "post-vaccinal encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9588 . obo:DOID_13668 oboInOwl:hasExactSynonym "Meningococcal encephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13668"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_13670 oboInOwl:hasExactSynonym "Hypocalcemia and/or hypomagnesemia of newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13670"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypocalcemia and hypomagnesemia of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_13676 oboInOwl:hasDbXref "ICD10CM:H15.03"^^xsd:string, "ICD9CM:379.07"^^xsd:string, "SNOMEDCT_US_2021_03_01:194144007"^^xsd:string, "UMLS_CUI:C0155357"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13676"^^xsd:string ; a owl:Class ; rdfs:label "posterior scleritis"^^xsd:string ; rdfs:subClassOf obo:DOID_13452 . obo:DOID_13677 oboInOwl:hasDbXref "GARD:7606"^^xsd:string, "MESH:D020083"^^xsd:string, "NCI:C119049"^^xsd:string, "SNOMEDCT_US_2021_03_01:60684003"^^xsd:string, "UMLS_CUI:C0263859"^^xsd:string ; oboInOwl:hasExactSynonym "Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13677"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "SAPHO syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_13679 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13679"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13680 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_13681 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13681"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_13682 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13682"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13687 oboInOwl:hasDbXref "ICD10CM:K31.5"^^xsd:string, "ICD9CM:537.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:52232007"^^xsd:string, "UMLS_CUI:C0156087"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13687"^^xsd:string ; a owl:Class ; rdfs:label "chronic duodenal ileus"^^xsd:string ; rdfs:subClassOf obo:DOID_3558 . obo:DOID_13689 oboInOwl:hasDbXref "ICD10CM:N42.0"^^xsd:string, "ICD9CM:602.0"^^xsd:string, "NCI:C26936"^^xsd:string, "SNOMEDCT_US_2021_03_01:155934005"^^xsd:string, "UMLS_CUI:C0149525"^^xsd:string ; oboInOwl:hasExactSynonym "Prostatic lithiasis"@en, "Prostatic stone"@en, "Stone of prostate"@en, "calculus of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13689"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate calculus"^^xsd:string ; rdfs:subClassOf obo:DOID_47, obo:DOID_9590, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_13690 obo:IAO_0000115 "An acute cystitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:24868007"^^xsd:string, "UMLS_CUI:C0153191"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal cystitis"@en, "acute gonorrhea of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13690"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13148 . obo:DOID_13691 obo:IAO_0000115 "A dermoid cyst that is located_in the skin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4632"^^xsd:string, "SNOMEDCT_US_2021_03_01:154630005"^^xsd:string, "UMLS_CUI:C0349502"^^xsd:string ; oboInOwl:hasExactSynonym "Dermoid cyst of skin"@en, "skin Dermoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermoid cyst of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_2658, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_13693 oboInOwl:hasExactSynonym "Ureteric disease"@en, "disorder of ureter (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13693"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of ureter"^^xsd:string ; owl:deprecated true . obo:DOID_13694 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13694"^^xsd:string ; a owl:Class ; rdfs:label "obsolete unilateral vesicoureteral reflux with reflux nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_13695 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13695"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bilateral vesicoureteral reflux with reflux nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_13696 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13696"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vesicoureteral reflux with reflux nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_137 obo:IAO_0000115 "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6374"^^xsd:string, "UMLS_CUI:C1336943"^^xsd:string ; oboInOwl:hasExactSynonym "squamous papilloma of vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:137"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114 . obo:DOID_13702 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postpartum benign essential hypertension"^^xsd:string ; owl:deprecated true . obo:DOID_13709 oboInOwl:hasDbXref "ICD10CM:F52.4"^^xsd:string, "ICD9CM:302.75"^^xsd:string, "MESH:D061686"^^xsd:string, "NCI:C94349"^^xsd:string, "SNOMEDCT_US_2021_03_01:123302009"^^xsd:string, "UMLS_CUI:C0033038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13709"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "premature ejaculation"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_1371 obo:IAO_0000115 "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27250"^^xsd:string, "UMLS_CUI:C1336902"^^xsd:string ; oboInOwl:hasExactSynonym "uterine corpus adenomatoid tumour"@en, "uterine corpus localised epithelial Mesothelioma"@en, "uterine corpus localized epithelial Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1371"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus adenomatoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_657, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ], [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] . obo:DOID_13711 oboInOwl:hasDbXref "ICD10CM:K00.3"^^xsd:string, "ICD9CM:520.3"^^xsd:string, "MESH:D009050"^^xsd:string, "NCI:C85059"^^xsd:string, "SNOMEDCT_US_2021_03_01:30265004"^^xsd:string, "UMLS_CUI:C0026618"^^xsd:string ; oboInOwl:hasExactSynonym "Intrinsic enamel discolouration of fluorosis"@en, "Mottled teeth"@en, "Mottling of enamel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13711"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dental fluorosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_13714 obo:IAO_0000115 "A tooth disease that is characterized by complete absence of permanent teeth."^^xsd:string ; oboInOwl:hasDbXref "GARD:5818"^^xsd:string, "ICD10CM:K00.0"^^xsd:string, "ICD9CM:520.0"^^xsd:string, "MESH:D000848"^^xsd:string, "NCI:C172328"^^xsd:string, "OMIM:206780"^^xsd:string, "SNOMEDCT_US_2021_03_01:234951001"^^xsd:string, "UMLS_CUI:C0399352"^^xsd:string ; oboInOwl:hasExactSynonym "Complete absence of teeth"@en, "Developmental absence of tooth"@en, "Total anodontia of permanent and deciduous teeth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13714"^^xsd:string ; a owl:Class ; rdfs:label "anodontia"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 ; skos:exactMatch "MESH:D000848"^^xsd:string . obo:DOID_13717 obo:IAO_0000115 "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:193590000"^^xsd:string, "UMLS_CUI:C0152257"^^xsd:string ; oboInOwl:hasExactSynonym "Total or mature cataract"@en, "Total, mature senile cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13717"^^xsd:string ; a owl:Class ; rdfs:label "mature cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_13720 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Schistosoma Mattheii"@en, "Infection by Schistosoma mattheii (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13720"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Schistosoma mattheei infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13722 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020818"^^xsd:string, "UMLS_CUI:C0752191"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13722"^^xsd:string ; a owl:Class ; rdfs:label "neuroschistosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_319, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_13723 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Schistosoma Bovis"@en, "Infection by Schistosoma bovis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13723"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Schistosoma bovis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13724 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing."^^xsd:string ; oboInOwl:hasDbXref "GARD:10406"^^xsd:string, "ICD10CM:E54"^^xsd:string, "MESH:D012614"^^xsd:string, "NCI:C35010"^^xsd:string, "OMIM:240400"^^xsd:string, "SNOMEDCT_US_2021_03_01:267493006"^^xsd:string, "UMLS_CUI:C0036474"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13724"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "scurvy"^^xsd:string ; rdfs:subClassOf obo:DOID_5113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ] . obo:DOID_13725 obo:IAO_0000115 "A thiamine deficiency disease that is characterized by being severe and chronic."^^xsd:string ; oboInOwl:hasDbXref "GARD:9948"^^xsd:string, "ICD10CM:E51.1"^^xsd:string, "ICD9CM:265.0"^^xsd:string, "MESH:D001602"^^xsd:string, "NCI:C34418"^^xsd:string, "SNOMEDCT_US_2021_03_01:267491008"^^xsd:string, "UMLS_CUI:C0005122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13725"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "beriberi"^^xsd:string ; rdfs:subClassOf obo:DOID_0070313 ; skos:exactMatch "MESH:D001602"^^xsd:string . obo:DOID_1373 obo:IAO_0000115 "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4262"^^xsd:string, "SNOMEDCT_US_2021_03_01:189810002"^^xsd:string, "UMLS_CUI:C0334485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1373"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial stromal nodule"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095 . obo:DOID_13730 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13730"^^xsd:string ; a owl:Class ; rdfs:label "malignant renovascular hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_1073, obo:DOID_13731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_13731 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_13731 oboInOwl:hasDbXref "ICD9CM:405.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:89242004"^^xsd:string, "UMLS_CUI:C0155617"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13731"^^xsd:string ; a owl:Class ; rdfs:label "malignant secondary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_11130 . obo:DOID_13732 oboInOwl:hasDbXref "ICD9CM:360.02"^^xsd:string, "MESH:D010202"^^xsd:string, "SNOMEDCT_US_2021_03_01:33382000"^^xsd:string, "UMLS_CUI:C0030332"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13732"^^xsd:string ; a owl:Class ; rdfs:label "panophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9724 . obo:DOID_13734 obo:IAO_0000115 "A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13734"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related Pneumocystis jirovecii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_13736 obo:IAO_0000115 "A uterine disease that is characterized by inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N71.9"^^xsd:string, "ICD9CM:615.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:28783002"^^xsd:string, "UMLS_CUI:C0269047"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory disease of the uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13736"^^xsd:string ; a owl:Class ; rdfs:label "uterine inflammatory disease"^^xsd:string ; rdfs:subClassOf obo:DOID_345, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13738 oboInOwl:hasDbXref "ICD10CM:K76.3"^^xsd:string, "ICD9CM:573.4"^^xsd:string, "MESH:D000081011"^^xsd:string, "SNOMEDCT_US_2021_03_01:17890003"^^xsd:string, "UMLS_CUI:C0151731"^^xsd:string ; oboInOwl:hasExactSynonym "infarct of liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13738"^^xsd:string ; a owl:Class ; rdfs:label "hepatic infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_13739 oboInOwl:hasDbXref "ICD10CM:K76.1"^^xsd:string, "ICD9CM:573.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:34736002"^^xsd:string, "UMLS_CUI:C0156195"^^xsd:string ; oboInOwl:hasExactSynonym "chronic passive congestion of liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13739"^^xsd:string ; a owl:Class ; rdfs:label "nutmeg liver"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_13742 oboInOwl:hasDbXref "NCI:C5145"^^xsd:string, "UMLS_CUI:C1336047"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13742"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurofibroma of spinal cord"^^xsd:string ; rdfs:subClassOf obo:DOID_5612, obo:DOID_962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_962 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_13743 obo:IAO_0000115 "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4619"^^xsd:string, "SNOMEDCT_US_2021_03_01:189017000"^^xsd:string, "UMLS_CUI:C0347446"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of spinal cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_6293, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_1375 oboInOwl:hasDbXref "ICD10CM:P39.3"^^xsd:string, "ICD9CM:771.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:12301009"^^xsd:string, "UMLS_CUI:C0235815"^^xsd:string ; oboInOwl:hasExactSynonym "urinary tract infection of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1375"^^xsd:string ; a owl:Class ; rdfs:label "neonatal urinary tract infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_18 . obo:DOID_13753 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma duboisii with meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_13754 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum with meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13754"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_13755 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma duboisii with pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13755"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_13756 oboInOwl:hasDbXref "ICD10CM:H04.22"^^xsd:string, "ICD9CM:375.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:85042000"^^xsd:string, "UMLS_CUI:C0155234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13756"^^xsd:string ; a owl:Class ; rdfs:label "epiphora due to insufficient drainage"^^xsd:string ; rdfs:subClassOf obo:DOID_13757 . obo:DOID_13757 oboInOwl:hasDbXref "ICD10CM:H04.2"^^xsd:string, "ICD9CM:375.2"^^xsd:string, "MESH:D007766"^^xsd:string, "NCI:C50552"^^xsd:string, "SNOMEDCT_US_2021_03_01:49393005"^^xsd:string, "UMLS_CUI:C0152227"^^xsd:string ; oboInOwl:hasExactSynonym "Epiphora"@en, "Excessive tear production"@en, "Watering eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "excessive tearing"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_1376 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1376"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_13760 obo:IAO_0000115 "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B85.3"^^xsd:string, "ICD9CM:132.2"^^xsd:string, "NCI:C35777"^^xsd:string, "SNOMEDCT_US_2021_03_01:71011005"^^xsd:string, "UMLS_CUI:C0030759"^^xsd:string ; oboInOwl:hasExactSynonym "Infestation by Phthirus pubis"@en, "Pediculosis Pubis"@en, "Pediculus pubis"@en, "Phthiriasis pubis"@en, "Phthirus pubis"@en, "Phthirus/pediculus pubis - pubic lice - crabs"@en, "crabs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13760"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "Pthirus pubis infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_5502, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_13762 obo:IAO_0000115 "A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bovine trypanosomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_13763 obo:IAO_0000115 "A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs."^^xsd:string ; oboInOwl:hasExactSynonym "Covering disease"@en, "Infection by Trypanosoma equiperdum (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13763"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dourine"^^xsd:string ; owl:deprecated true . obo:DOID_13767 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.1"^^xsd:string, "ICD9CM:121.1"^^xsd:string, "MESH:D003003"^^xsd:string, "SNOMEDCT_US_2021_03_01:11938002"^^xsd:string, "UMLS_CUI:C0009021"^^xsd:string ; oboInOwl:hasExactSynonym "Oriental liver fluke disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13767"^^xsd:string ; a owl:Class ; rdfs:label "clonorchiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_409, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_79923 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_13768 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma."^^xsd:string ; oboInOwl:hasDbXref "GARD:9746"^^xsd:string, "ICD10CM:B66.0"^^xsd:string, "ICD9CM:121.0"^^xsd:string, "MESH:D009889"^^xsd:string, "SNOMEDCT_US_2021_03_01:187124006"^^xsd:string, "UMLS_CUI:C0029106"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Opisthorchis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13768"^^xsd:string ; a owl:Class ; rdfs:label "opisthorchiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262, obo:DOID_26, obo:DOID_409, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000422 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_13774 obo:IAO_0000115 "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands."^^xsd:string ; oboInOwl:hasDbXref "GARD:5740"^^xsd:string, "ICD10CM:E27.1"^^xsd:string, "MESH:D000224"^^xsd:string, "NCI:C26689"^^xsd:string, "OMIM:103230"^^xsd:string, "OMIM:240200"^^xsd:string, "SNOMEDCT_US_2021_03_01:363732003"^^xsd:string, "UMLS_CUI:C0001403"^^xsd:string ; oboInOwl:hasExactSynonym "Addison disease"@en, "Addison disease, chronic adrenal insufficiency"@en, "HYPOADRENOCORTICISM, FAMILIAL"@en, "primary adrenocortical insufficiency"@en, "primary hypoadrenalism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13774"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Addison's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10493 . obo:DOID_13775 obo:IAO_0000115 "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B07.0"^^xsd:string, "ICD9CM:078.12"^^xsd:string, "NCI:C26913"^^xsd:string, "SNOMEDCT_US_2021_03_01:154363006"^^xsd:string, "UMLS_CUI:C0042548"^^xsd:string ; oboInOwl:hasExactSynonym "Verruca plantaris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13775"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plantar wart"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_173087 ] . obo:DOID_13777 obo:IAO_0000115 "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:6357"^^xsd:string, "MESH:D004819"^^xsd:string, "NCI:C126877"^^xsd:string, "OMIM:PS226400"^^xsd:string, "ORDO:302"^^xsd:string, "SNOMEDCT_US_2021_03_01:19138001"^^xsd:string, "UMLS_CUI:C0014522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13777"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "epidermodysplasia verruciformis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:D004819"^^xsd:string . obo:DOID_13778 obo:IAO_0000115 "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers."^^xsd:string ; oboInOwl:hasDbXref "GARD:9522"^^xsd:string, "ICD10CM:A57"^^xsd:string, "ICD9CM:099.0"^^xsd:string, "MESH:D002602"^^xsd:string, "SNOMEDCT_US_2021_03_01:154391003"^^xsd:string, "UMLS_CUI:C0007947"^^xsd:string ; oboInOwl:hasExactSynonym "Ulcus molle, skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13778"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "chancroid"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_730 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_1378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1378"^^xsd:string ; a owl:Class ; rdfs:label "obsolete uterine corpus mixed epithelial and mesenchymal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_13781 oboInOwl:hasDbXref "ICD10CM:M35.7"^^xsd:string, "ICD9CM:728.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:85551004"^^xsd:string, "UMLS_CUI:C0152093"^^xsd:string ; oboInOwl:hasExactSynonym "benign joint hypermobility"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13781"^^xsd:string ; a owl:Class ; rdfs:label "hypermobility syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_13787 oboInOwl:hasDbXref "ICD10CM:H15.82"^^xsd:string, "ICD9CM:379.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:21946002"^^xsd:string, "UMLS_CUI:C0155362"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior staphyloma, localised"@en, "Anterior staphyloma, localized"@en, "localised anterior staphyloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13787"^^xsd:string ; a owl:Class ; rdfs:label "localized anterior staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11595 . obo:DOID_13788 oboInOwl:hasDbXref "ICD10CM:H15.81"^^xsd:string, "ICD9CM:379.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:82146006"^^xsd:string, "UMLS_CUI:C0155361"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13788"^^xsd:string ; a owl:Class ; rdfs:label "equatorial staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11595 . obo:DOID_13789 oboInOwl:hasDbXref "ICD10CM:H15.83"^^xsd:string, "ICD9CM:379.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:87819007"^^xsd:string, "UMLS_CUI:C0155360"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13789"^^xsd:string ; a owl:Class ; rdfs:label "staphyloma posticum"^^xsd:string ; rdfs:subClassOf obo:DOID_11595 . obo:DOID_13790 oboInOwl:hasDbXref "ICD10CM:H73.0"^^xsd:string, "ICD9CM:384.00"^^xsd:string, "SNOMEDCT_US_2021_03_01:297009"^^xsd:string, "UMLS_CUI:C0155460"^^xsd:string ; oboInOwl:hasExactSynonym "acute myringitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13790"^^xsd:string ; a owl:Class ; rdfs:label "acute tympanitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_13791 obo:IAO_0000115 "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H73.01"^^xsd:string, "ICD9CM:384.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:33528003"^^xsd:string, "UMLS_CUI:C0155461"^^xsd:string ; oboInOwl:hasExactSynonym "Bullous myringitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13791"^^xsd:string ; a owl:Class ; rdfs:label "myringitis bullosa hemorrhagica"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_13794 oboInOwl:hasDbXref "ICD10CM:H15.01"^^xsd:string, "ICD9CM:379.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:63454000"^^xsd:string, "UMLS_CUI:C0155353"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13794"^^xsd:string ; a owl:Class ; rdfs:label "anterior scleritis"^^xsd:string ; rdfs:subClassOf obo:DOID_13452 . obo:DOID_13799 obo:IAO_0000115 "A female breast cancer that is located_in the center of the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50.11"^^xsd:string, "ICD9CM:174.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:188151006"^^xsd:string, "UMLS_CUI:C0153549"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of central part of female breast"@en, "malignant neoplasm of central portion of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13799"^^xsd:string ; a owl:Class ; rdfs:label "female breast central part cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_138 obo:IAO_0000115 "A vaginal cancer that has_material_basis in squamous tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40242"^^xsd:string, "UMLS_CUI:C1519931"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal squamous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_119 . obo:DOID_1380 obo:IAO_0000115 "A uterine cancer that is located_in tissues lining the uterus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5654"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004230"^^xsd:string, "GARD:11981"^^xsd:string, "ICD10CM:C54.1"^^xsd:string, "KEGG:05213"^^xsd:string, "MESH:D016889"^^xsd:string, "NCI:C27815"^^xsd:string, "NCI:C3012"^^xsd:string, "OMIM:608089"^^xsd:string, "SNOMEDCT_US_2021_03_01:123844007"^^xsd:string, "UMLS_CUI:C0007103"^^xsd:string, "UMLS_CUI:C0014170"^^xsd:string ; oboInOwl:hasExactSynonym "endometrial Ca"@en, "endometrial neoplasm"@en, "malignant endometrial neoplasm"@en, "malignant neoplasm of endometrium"@en, "neoplasm of endometrium"@en, "primary malignant neoplasm of endometrium"@en, "tumor of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1380"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_289, obo:DOID_363 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] ) ] . obo:DOID_13800 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus."^^xsd:string ; oboInOwl:hasDbXref "GARD:6777"^^xsd:string, "ICD10CM:A74.0"^^xsd:string, "ICD9CM:077.0"^^xsd:string, "MESH:D003235"^^xsd:string, "SNOMEDCT_US_2021_03_01:111840005"^^xsd:string, "UMLS_CUI:C0009770"^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydial conjunctivitis"@en, "Inclusion blennorrhoea"@en, "adult inclusion conjunctivitis"@en, "inclusion blenorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Paratrachoma"@en ; oboInOwl:id "DOID:13800"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "inclusion conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_13801 obo:IAO_0000115 "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:077.2"^^xsd:string, "MESH:D000258"^^xsd:string, "NCI:C34924"^^xsd:string, "SNOMEDCT_US_2021_03_01:70385007"^^xsd:string, "UMLS_CUI:C0031351"^^xsd:string ; oboInOwl:hasExactSynonym "Adenoviral pharyngoconjunctivitis"@en, "Pharyngoconjunctival Fever"@en, "Pharyngoconjunctival fever"@en, "pharyngo-conjunctival fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pharyngoconjunctival fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10519 obo:NCBITaxon_45659 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0001811 obo:UBERON_0006562 ) ] ] . obo:DOID_13809 oboInOwl:hasDbXref "ICD10CM:E78.49"^^xsd:string, "MESH:D006950"^^xsd:string, "NCI:C35637"^^xsd:string, "OMIM:144250"^^xsd:string, "SNOMEDCT_US_2021_03_01:48190005"^^xsd:string, "UMLS_CUI:C0020474"^^xsd:string ; oboInOwl:hasExactSynonym "familial multiple lipoprotein-type hyperlipidemia"@en, "hyperbetalipoproteinemia with prebetalipoproteinemia"@en, "mixed hyperlipidaemia"@en, "type IIb hyperlipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13809"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial combined hyperlipidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_1381 obo:IAO_0000115 "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla."^^xsd:string ; oboInOwl:hasDbXref "GARD:6462"^^xsd:string, "ICD10CM:L75.2"^^xsd:string, "ICD9CM:705.82"^^xsd:string, "MESH:D005588"^^xsd:string, "NCI:C84716"^^xsd:string, "SNOMEDCT_US_2021_03_01:254682006"^^xsd:string, "UMLS_CUI:C0016632"^^xsd:string ; oboInOwl:hasExactSynonym "Fox Fordyce disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Fox-Fordyce disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1383 . obo:DOID_13810 obo:IAO_0000115 "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:10416"^^xsd:string, "ICD10CM:E78.01"^^xsd:string, "MESH:D006938"^^xsd:string, "NCI:C34704"^^xsd:string, "OMIM:143890"^^xsd:string, "ORDO:406"^^xsd:string, "SNOMEDCT_US_2021_03_01:190772003"^^xsd:string, "UMLS_CUI:C0020445"^^xsd:string ; oboInOwl:hasExactSynonym "Fredrickson type IIa hyperlipoproteinemia"@en, "Fredrickson type IIa lipidaemia"@en, "familial hyperbetalipoproteinaemia"@en, "familial hypercholesteremia"@en, "hyperbetalipoproteinemia"@en, "type II hyperlipidemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13810"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "familial hypercholesterolemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_13811 obo:IAO_0000115 "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:621.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:53518003"^^xsd:string, "UMLS_CUI:C0156370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13811"^^xsd:string ; a owl:Class ; rdfs:label "chronic subinvolution of uterus"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_13812 obo:IAO_0000115 "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:301789000"^^xsd:string, "UMLS_CUI:C0241593"^^xsd:string ; oboInOwl:hasExactSynonym "Band of uterus"@en, "Intrauterine adhesions"@en, "Intrauterine synechiae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13812"^^xsd:string ; a owl:Class ; rdfs:label "adhesions of uterus"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_13814 oboInOwl:hasDbXref "ICD10CM:G52.3"^^xsd:string, "ICD9CM:352.5"^^xsd:string, "MESH:D020437"^^xsd:string, "NCI:C26954"^^xsd:string, "SNOMEDCT_US_2021_03_01:24777009"^^xsd:string, "UMLS_CUI:C0152181"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of 12th nerve"@en, "disorder of XII nerve"@en, "disorder of hypoglossal [12th] nerve"@en, "disorder of hypoglossal nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13814"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoglossal nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001650 ] ) ] . obo:DOID_13817 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13817"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode manic disease moderate degree"^^xsd:string ; owl:deprecated true . obo:DOID_13818 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13818"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode manic disorder mild degree"^^xsd:string ; owl:deprecated true . obo:DOID_13819 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9545"^^xsd:string, "ICD10CM:A55"^^xsd:string, "ICD9CM:099.1"^^xsd:string, "MESH:D008219"^^xsd:string, "NCI:C26822"^^xsd:string, "SNOMEDCT_US_2021_03_01:266213004"^^xsd:string, "UMLS_CUI:C0024286"^^xsd:string ; oboInOwl:hasExactSynonym "Climatic or tropical bubo"@en, "Durand-Nicolas-Favre disease"@en, "Lymphogranuloma inguinale"@en, "Poradenitis inguinale"@en, "Strumous bubo"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13819"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "lymphogranuloma venereum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_9113, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9113 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002391 ] ) ] . obo:DOID_1382 obo:IAO_0000115 "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.3"^^xsd:string, "MESH:D008883"^^xsd:string, "NCI:C34820"^^xsd:string, "SNOMEDCT_US_2021_03_01:63951004"^^xsd:string, "UMLS_CUI:C0026113"^^xsd:string ; oboInOwl:hasExactSynonym "eccrine miliaria"@en, "heat rash"@en, "sweat rash"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1382"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "miliaria"^^xsd:string ; rdfs:subClassOf obo:DOID_1383 . obo:DOID_13820 oboInOwl:hasExactSynonym "Congenital pneumonia (disorder)"@en, "Congenital pneumonia NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13820"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital pneumonia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_13822 obo:IAO_0000115 "A cataract resulting from hypocalcemia."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.42"^^xsd:string, "NCI:C35068"^^xsd:string, "SNOMEDCT_US_2021_03_01:193607003"^^xsd:string, "UMLS_CUI:C0039613"^^xsd:string ; oboInOwl:hasExactSynonym "Hypocalcaemic cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13822"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tetanic cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_13823 oboInOwl:hasDbXref "ICD9CM:373.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:193922006"^^xsd:string, "UMLS_CUI:C0155183"^^xsd:string ; oboInOwl:hasExactSynonym "Parasitic infestation of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13823"^^xsd:string ; a owl:Class ; rdfs:label "parasitic eyelid infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_13825 oboInOwl:hasDbXref "ICD10CM:H01.02"^^xsd:string, "ICD9CM:373.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:58912008"^^xsd:string, "UMLS_CUI:C0155174"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13825"^^xsd:string ; a owl:Class ; rdfs:label "squamous blepharitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_1383 obo:IAO_0000115 "A skin disease located_in the sweat glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.9"^^xsd:string, "ICD9CM:705.9"^^xsd:string, "MESH:D013543"^^xsd:string, "SNOMEDCT_US_2021_03_01:88232005"^^xsd:string, "UMLS_CUI:C0038986"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1383"^^xsd:string ; a owl:Class ; rdfs:label "sweat gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001820 ] ) ] . obo:DOID_13832 oboInOwl:hasDbXref "GARD:7342"^^xsd:string, "ICD10CM:Q25.0"^^xsd:string, "ICD9CM:747.0"^^xsd:string, "MESH:D004374"^^xsd:string, "NCI:C84492"^^xsd:string, "OMIM:607411"^^xsd:string, "SNOMEDCT_US_2021_03_01:156928009"^^xsd:string, "UMLS_CUI:C0013274"^^xsd:string ; oboInOwl:hasExactSynonym "Patent ductus Botalli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ductus arteriosus, Patent"@en ; oboInOwl:id "DOID:13832"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "patent ductus arteriosus"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_13837 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete convergence excess or spasm"^^xsd:string ; owl:deprecated true . obo:DOID_13839 oboInOwl:hasDbXref "ICD10CM:G25.9"^^xsd:string, "ICD9CM:333.90"^^xsd:string, "SNOMEDCT_US_2021_03_01:192866001"^^xsd:string, "UMLS_CUI:C0477355"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13839"^^xsd:string ; a owl:Class ; rdfs:label "extrapyramidal and movement disease"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_1384 oboInOwl:hasAlternativeId "DOID:12004"^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydial infection of lower genitourinary tract (disorder)"@en, "Chlamydial urethritis (disorder)"@en, "NGU due to Chlamydia trachomatis"@en, "Nongonococcal urethritis due to Chlamydia trachomatis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1384"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_13844 oboInOwl:hasExactSynonym "Suppressed lactation - delivered (disorder)"@en, "Suppressed lactation, with delivery, with or without mention of antepartum condition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13844"^^xsd:string ; a owl:Class ; rdfs:label "obsolete suppressed lactation - delivered"^^xsd:string ; owl:deprecated true . obo:DOID_13845 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13845"^^xsd:string ; a owl:Class ; rdfs:label "obsolete suppressed lactation"^^xsd:string ; owl:deprecated true . obo:DOID_13850 oboInOwl:hasExactSynonym "Hallux varus (acquired)"@en, "Hallux varus - acquired"@en, "acquired hallux varus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13850"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired hallux varus"^^xsd:string ; owl:deprecated true . obo:DOID_1386 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS."^^xsd:string ; oboInOwl:hasDbXref "GARD:5"^^xsd:string, "ICD10CM:E78.6"^^xsd:string, "MESH:D000012"^^xsd:string, "NCI:C84525"^^xsd:string, "OMIM:200100"^^xsd:string, "SNOMEDCT_US_2021_03_01:83123000"^^xsd:string, "UMLS_CUI:C0000744"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypobetalipoproteinemia"@en, "microsomal triglyceride transfer protein deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1386"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "abetalipoproteinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1387, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:D000012"^^xsd:string . obo:DOID_13861 obo:IAO_0000115 "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.04"^^xsd:string, "ICD9CM:379.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:42574005"^^xsd:string, "UMLS_CUI:C0155355"^^xsd:string ; oboInOwl:hasExactSynonym "Scleritis with corneal involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13861"^^xsd:string ; a owl:Class ; rdfs:label "scleroperikeratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13452, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13862 obo:IAO_0000115 "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening futher optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.21"^^xsd:string, "ICD9CM:365.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:30041005"^^xsd:string, "UMLS_CUI:C0154946"^^xsd:string ; oboInOwl:hasExactSynonym "acute angle-closure glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13862"^^xsd:string ; a owl:Class ; rdfs:label "acute closed-angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1405 . obo:DOID_13864 oboInOwl:hasDbXref "ICD10CM:H49.1"^^xsd:string, "ICD9CM:378.53"^^xsd:string, "MESH:D020432"^^xsd:string, "NCI:C78395"^^xsd:string, "SNOMEDCT_US_2021_03_01:246781001"^^xsd:string, "SNOMEDCT_US_2021_03_01:67883005"^^xsd:string, "UMLS_CUI:C0271375"^^xsd:string, "UMLS_CUI:C0423092"^^xsd:string, "UMLS_CUI:C0751939"^^xsd:string ; oboInOwl:hasExactSynonym "Superior oblique muscle innervation disorder"@en, "Trochlear nerve disorder"@en, "disorder of trochlear nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13864"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trochlear nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001644 ] ) ] . obo:DOID_13865 oboInOwl:hasDbXref "MESH:D005156"^^xsd:string, "SNOMEDCT_US_2021_03_01:4151000119102"^^xsd:string, "UMLS_CUI:C0015467"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13865"^^xsd:string ; a owl:Class ; rdfs:label "facial neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_1756 . obo:DOID_13866 oboInOwl:hasDbXref "ICD10CM:G52.7"^^xsd:string, "ICD9CM:352.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:78152008"^^xsd:string, "UMLS_CUI:C0154733"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple cranial nerve palsies"@en, "Multiple cranial nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13866"^^xsd:string ; a owl:Class ; rdfs:label "multiple cranial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 . obo:DOID_13867 obo:IAO_0000115 "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.32"^^xsd:string, "SNOMEDCT_US_2021_03_01:194364005"^^xsd:string, "UMLS_CUI:C0155505"^^xsd:string ; oboInOwl:hasExactSynonym "Circumscribed labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13867"^^xsd:string ; a owl:Class ; rdfs:label "focal labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468 . obo:DOID_13868 oboInOwl:hasDbXref "ICD10CM:F52.0"^^xsd:string, "ICD9CM:302.71"^^xsd:string, "MESH:D020018"^^xsd:string, "NCI:C94337"^^xsd:string, "SNOMEDCT_US_2021_03_01:78889008"^^xsd:string, "UMLS_CUI:C0020594"^^xsd:string ; oboInOwl:hasExactSynonym "Lack or loss of sexual desire"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoactive sexual desire disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_13869 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13869"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychosexual dysfunction with male orgasmic disease"^^xsd:string ; owl:deprecated true . obo:DOID_1387 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:8394"^^xsd:string, "ICD10CM:E78.6"^^xsd:string, "ICD9CM:272.5"^^xsd:string, "MESH:D007009"^^xsd:string, "SNOMEDCT_US_2021_03_01:363140000"^^xsd:string, "UMLS_CUI:C0020623"^^xsd:string ; oboInOwl:hasExactSynonym "Hypolipoproteinaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Lipoprotein deficiencies"@en ; oboInOwl:id "DOID:1387"^^xsd:string ; a owl:Class ; rdfs:label "hypolipoproteinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_1388 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:7731"^^xsd:string, "ICD10CM:E78.6"^^xsd:string, "MESH:D013631"^^xsd:string, "NCI:C85182"^^xsd:string, "OMIM:205400"^^xsd:string, "SNOMEDCT_US_2021_03_01:190783007"^^xsd:string, "UMLS_CUI:C0039292"^^xsd:string ; oboInOwl:hasExactSynonym "familial alpha-lipoprotein deficiency"@en, "familial high density lipoprotein deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Tangier disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1387 ; skos:exactMatch "MESH:D013631"^^xsd:string . obo:DOID_13884 oboInOwl:hasDbXref "ICD10CM:I49.5"^^xsd:string, "MESH:D012804"^^xsd:string, "NCI:C62244"^^xsd:string, "OMIM:163800"^^xsd:string, "OMIM:608567"^^xsd:string, "ORDO:166282"^^xsd:string, "SNOMEDCT_US_2021_03_01:266307005"^^xsd:string, "UMLS_CUI:C0037052"^^xsd:string ; oboInOwl:hasExactSynonym "sinus node infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13884"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "sick sinus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050824 ; skos:exactMatch "MESH:D012804"^^xsd:string . obo:DOID_13887 oboInOwl:hasExactSynonym "Residual schizophrenia, chronic state"@en, "chronic residual schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13887"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual chronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_1389 obo:IAO_0000115 "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A69.22"^^xsd:string, "MESH:D011115"^^xsd:string, "NCI:C26951"^^xsd:string, "SNOMEDCT_US_2021_03_01:193166009"^^xsd:string, "UMLS_CUI:C0152025"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1389"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_574, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000352 ] . obo:DOID_13891 obo:IAO_0000115 "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.2"^^xsd:string, "ICD9CM:495.2"^^xsd:string, "MESH:D001716"^^xsd:string, "NCI:C34425"^^xsd:string, "SNOMEDCT_US_2021_03_01:69339004"^^xsd:string, "UMLS_CUI:C0005592"^^xsd:string ; oboInOwl:hasExactSynonym "Avian hypersensitivity Pneumonitis"@en, "Bird-fancier's lung"@en, "Bird-fanciers' lung"@en, "bird breeder's lung"@en, "bird fancier lung"@en, "pigeon breeder's lung"@en, "poultry worker's lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13891"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bird fancier's lung"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_139 oboInOwl:hasDbXref "MESH:D010212"^^xsd:string, "NCI:C3712"^^xsd:string, "SNOMEDCT_US_2021_03_01:63451008"^^xsd:string, "UMLS_CUI:C0205874"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous cell papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615 . obo:DOID_1390 obo:IAO_0000115 "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006995"^^xsd:string, "SNOMEDCT_US_2021_03_01:190786004"^^xsd:string, "UMLS_CUI:C0020597"^^xsd:string ; oboInOwl:hasExactSynonym "Hypo-beta-lipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1390"^^xsd:string ; a owl:Class ; rdfs:label "hypobetalipoproteinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_13902 obo:IAO_0000115 "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.2"^^xsd:string, "ICD9CM:111.2"^^xsd:string, "MESH:D010854"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "SNOMEDCT_US_2021_03_01:35586003"^^xsd:string, "UMLS_CUI:C0031898"^^xsd:string, "UMLS_CUI:C0040249"^^xsd:string ; oboInOwl:hasExactSynonym "Tinea blanca"@en, "White piedra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13902"^^xsd:string ; a owl:Class ; rdfs:comment """Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases."""^^xsd:string ; rdfs:label "white piedra"^^xsd:string ; rdfs:subClassOf obo:DOID_0050133 . obo:DOID_13906 oboInOwl:hasExactSynonym "malignant Pleural Effusion"@en, "malignant pleural effusion"@en, "neoplastic pleural effusion (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13906"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant pleural effusion"^^xsd:string ; owl:deprecated true . obo:DOID_13909 oboInOwl:hasDbXref "ICD9CM:368.52"^^xsd:string, "MESH:D003117"^^xsd:string, "OMIM:303800"^^xsd:string, "ORDO:319698"^^xsd:string, "SNOMEDCT_US_2021_03_01:246674000"^^xsd:string, "UMLS_CUI:C0155016"^^xsd:string ; oboInOwl:hasExactSynonym "Deutan defect"@en, "Deuteranopia"@en, "Reduced red-green discrimination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13909"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "red-green color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_13399 . obo:DOID_1391 oboInOwl:hasDbXref "ICD10CM:E78.6"^^xsd:string, "MESH:D007863"^^xsd:string, "NCI:C84813"^^xsd:string, "OMIM:245900"^^xsd:string, "SNOMEDCT_US_2021_03_01:238091006"^^xsd:string, "UMLS_CUI:C0023195"^^xsd:string ; oboInOwl:hasExactSynonym "LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY"@en, "lecithin acyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1391"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Norum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_13910 oboInOwl:hasDbXref "ICD9CM:368.51"^^xsd:string, "MESH:D003117"^^xsd:string, "OMIM:303900"^^xsd:string, "SNOMEDCT_US_2021_03_01:51445007"^^xsd:string, "UMLS_CUI:C0155015"^^xsd:string ; oboInOwl:hasExactSynonym "Protan defect"@en, "Protanopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13910"^^xsd:string ; a owl:Class ; rdfs:label "red color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_13399 . obo:DOID_13911 obo:IAO_0000115 "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.51"^^xsd:string, "ICD9CM:368.54"^^xsd:string, "MESH:D003117"^^xsd:string, "NCI:C84528"^^xsd:string, "ORDO:49382"^^xsd:string, "SNOMEDCT_US_2021_03_01:56852002"^^xsd:string, "UMLS_CUI:C0152200"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM"@en, "Monochromatism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13911"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "achromatopsia"^^xsd:string ; rdfs:subClassOf obo:DOID_13399 . obo:DOID_13912 oboInOwl:hasDbXref "ICD10CM:H53.52"^^xsd:string, "ICD9CM:368.55"^^xsd:string, "MESH:D003117"^^xsd:string, "NCI:C118712"^^xsd:string, "SNOMEDCT_US_2021_03_01:71676008"^^xsd:string, "UMLS_CUI:C0155018"^^xsd:string ; oboInOwl:hasExactSynonym "acquired color vision deficiencies"@en, "acquired color vision deficiency"@en, "acquired colour blindness"@en, "acquired colour vision deficiencies"@en, "acquired colour vision deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13912"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acquired color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_13399 . obo:DOID_13913 oboInOwl:hasDbXref "ICD9CM:353.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:4062006"^^xsd:string, "UMLS_CUI:C0154735"^^xsd:string ; oboInOwl:hasExactSynonym "Lumbosacral plexus lesion"@en, "Lumbosacral plexus lesions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13913"^^xsd:string ; a owl:Class ; rdfs:label "lumbosacral plexus lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_574 . obo:DOID_13918 obo:IAO_0000115 "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F45.0"^^xsd:string, "ICD9CM:300.81"^^xsd:string, "MESH:D013001"^^xsd:string, "SNOMEDCT_US_2021_03_01:60368009"^^xsd:string, "UMLS_CUI:C0520482"^^xsd:string ; oboInOwl:hasExactSynonym "Briquet's disorder"@en, "Somatisation disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Polysomatising disorder"@en ; oboInOwl:id "DOID:13918"^^xsd:string ; a owl:Class ; rdfs:label "somatization disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_13919 oboInOwl:hasDbXref "ICD10CM:H52.21"^^xsd:string, "ICD9CM:367.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:47099006"^^xsd:string, "UMLS_CUI:C0152194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13919"^^xsd:string ; a owl:Class ; rdfs:label "irregular astigmatism"^^xsd:string ; rdfs:subClassOf obo:DOID_11782 . obo:DOID_1392 oboInOwl:hasDbXref "ICD9CM:377.24"^^xsd:string, "MESH:C562401"^^xsd:string, "OMIM:177800"^^xsd:string, "SNOMEDCT_US_2021_03_01:57138009"^^xsd:string, "UMLS_CUI:C0155300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1392"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudopapilledema"^^xsd:string ; rdfs:subClassOf obo:DOID_1393 . obo:DOID_13921 oboInOwl:hasDbXref "NCI:C27106"^^xsd:string, "SNOMEDCT_US_2021_03_01:235601001"^^xsd:string, "UMLS_CUI:C0341108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13921"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_11963, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_13922 obo:IAO_0000115 "An esophagitis characterized by inflammation involving eosinophils located_in esophagus."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004232"^^xsd:string, "ICD10CM:K20.0"^^xsd:string, "ICD9CM:530.13"^^xsd:string, "MESH:D057765"^^xsd:string, "NCI:C27105"^^xsd:string, "OMIM:610247"^^xsd:string, "OMIM:613412"^^xsd:string, "ORDO:73247"^^xsd:string, "SNOMEDCT_US_2021_03_01:235599003"^^xsd:string, "UMLS_CUI:C0341106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13922"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "eosinophilic esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11963, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_13923 oboInOwl:hasExactSynonym "acute paranoid reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13923"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute psychogenic paranoid psychosis"^^xsd:string ; owl:deprecated true . obo:DOID_13924 oboInOwl:hasAlternativeId "DOID:2274"^^xsd:string ; oboInOwl:hasDbXref "GARD:5736"^^xsd:string, "ICD10CM:A69.1"^^xsd:string, "ICD9CM:101"^^xsd:string, "MESH:D005892"^^xsd:string, "NCI:C34637"^^xsd:string, "SNOMEDCT_US_2021_03_01:171847006"^^xsd:string, "SNOMEDCT_US_2021_03_01:707792000"^^xsd:string, "UMLS_CUI:C0017575"^^xsd:string, "UMLS_CUI:C1527368"^^xsd:string ; oboInOwl:hasExactSynonym "ANUG"@en, "Angina - Vincents"@en, "Trench mouth"@en, "Vincent angina"@en, "Vincent's Angina"@en, "Vincent's angina"@en, "Vincent's angina - pharyngitis"@en, "Vincent's disease"@en, "Vincent's infection, any site"@en, "acute necrotising ulcerative gingivitis"@en, "acute necrotising ulcerative gingivostomatitis"@en, "acute necrotizing ulcerative gingivitis"@en, "acute necrotizing ulcerative gingivostomatitis"@en, "acute ulceromembranous gingivitis"@en, "early acute necrotising gingivitis"@en, "trench mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13924"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necrotizing ulcerative gingivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3087 . obo:DOID_13929 oboInOwl:hasDbXref "MESH:D007767"^^xsd:string, "NCI:C34757"^^xsd:string, "SNOMEDCT_US_2021_03_01:95769009"^^xsd:string, "UMLS_CUI:C0022906"^^xsd:string ; oboInOwl:hasExactSynonym "Blocked lacrimal canaliculus"@en, "Obstruction of lacrimal canaliculus"@en, "Obstruction of lacrimal ducts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal duct obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_1393 obo:IAO_0000115 "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H47.9"^^xsd:string, "NCI:C35342"^^xsd:string, "SNOMEDCT_US_2021_03_01:54767005"^^xsd:string, "UMLS_CUI:C0155287"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1393"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "visual pathway disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001908 ] ) ] . obo:DOID_13934 oboInOwl:hasDbXref "ICD10CM:G51.0"^^xsd:string, "MESH:D005158"^^xsd:string, "NCI:C26769"^^xsd:string, "SNOMEDCT_US_2021_03_01:90039006"^^xsd:string, "UMLS_CUI:C0015469"^^xsd:string ; oboInOwl:hasExactSynonym "Facial Palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "facial paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_1756 . obo:DOID_13938 obo:IAO_0000115 "A female reproductive system disease that is characterized by the absence of menstruation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N91.2"^^xsd:string, "ICD9CM:626.0"^^xsd:string, "MESH:D000568"^^xsd:string, "NCI:C61443"^^xsd:string, "SNOMEDCT_US_2021_03_01:156034000"^^xsd:string, "UMLS_CUI:C0002453"^^xsd:string ; oboInOwl:hasExactSynonym "absence of menstruation"@en, "amenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13938"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amenorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; skos:exactMatch "MESH:D000568"^^xsd:string . obo:DOID_1394 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:120.0"^^xsd:string, "MESH:D012553"^^xsd:string, "NCI:C39294"^^xsd:string, "SNOMEDCT_US_2021_03_01:60979006"^^xsd:string, "UMLS_CUI:C0276926"^^xsd:string ; oboInOwl:hasExactSynonym "Schistosoma Hematobium Infection"@en, "Schistosoma haematobium"@en, "Schistosoma hematobium infectious disease"@en, "Schistosomiasis due to schistosoma haematobium"@en, "Schistosomiasis of bladder"@en, "Vesical schistosomiasis"@en, "bladder Schistosomiasis"@en, "cystitis with bilharziasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Schistosoma haematobium infection"@en ; oboInOwl:id "DOID:1394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "urinary schistosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_13941 oboInOwl:hasDbXref "ICD9CM:386.11"^^xsd:string, "MESH:D065635"^^xsd:string, "OMIM:193007"^^xsd:string, "OMIM:613106"^^xsd:string, "SNOMEDCT_US_2021_03_01:111541001"^^xsd:string, "UMLS_CUI:C0155502"^^xsd:string ; oboInOwl:hasExactSynonym "benign paroxysmal positional vertigo"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13941"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "benign paroxysmal positional nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_9847 . obo:DOID_13942 oboInOwl:hasDbXref "ICD9CM:098.17"^^xsd:string, "SNOMEDCT_US_2021_03_01:45377007"^^xsd:string, "UMLS_CUI:C0275654"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal salpingitis, specified as acute"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13942"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10973 . obo:DOID_13943 oboInOwl:hasDbXref "ICD9CM:098.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:111806005"^^xsd:string, "UMLS_CUI:C0153192"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal prostatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13943"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal prostatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_14654 . obo:DOID_13945 obo:IAO_0000115 "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment."^^xsd:string ; oboInOwl:hasDbXref "GARD:1049"^^xsd:string, "ICD10CM:I67.850"^^xsd:string, "MESH:D046589"^^xsd:string, "NCI:C84606"^^xsd:string, "OMIM:600142"^^xsd:string, "OMIM:PS125310"^^xsd:string, "ORDO:136"^^xsd:string, "SNOMEDCT_US_2021_03_01:390723008"^^xsd:string, "UMLS_CUI:C0751587"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"@en, "hereditary multi-infarct dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13945"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "CADASIL"^^xsd:string ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_13948 oboInOwl:hasDbXref "ICD10CM:N32.0"^^xsd:string, "ICD9CM:596.0"^^xsd:string, "MESH:D001748"^^xsd:string, "NCI:C79541"^^xsd:string, "SNOMEDCT_US_2021_03_01:197859007"^^xsd:string, "UMLS_CUI:C0005694"^^xsd:string ; oboInOwl:hasExactSynonym "Obstruction of bladder neck or vesicourethral orifice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder neck obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_13949 oboInOwl:hasDbXref "GARD:6787"^^xsd:string, "MESH:D018856"^^xsd:string, "NCI:C27189"^^xsd:string, "SNOMEDCT_US_2021_03_01:197834003"^^xsd:string, "UMLS_CUI:C0282488"^^xsd:string ; oboInOwl:hasExactSynonym "ulcerative cystitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "interstitial cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_1395 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria."^^xsd:string ; oboInOwl:hasDbXref "GARD:9687"^^xsd:string, "ICD9CM:120.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:187116001"^^xsd:string, "UMLS_CUI:C0029827"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1395"^^xsd:string ; a owl:Class ; rdfs:label "schistosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6181 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000040 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_13951 obo:IAO_0000115 "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40164"^^xsd:string, "UMLS_CUI:C1519850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13951"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus epithelioid leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13223, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_13953 obo:IAO_0000115 "A uterine fibroid that is characterized by the presence of intramural tearing."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40172"^^xsd:string, "UMLS_CUI:C1519847"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13953"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus dissecting leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13223, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_13954 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13954"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mitotically active variant uterine corpus leiomyoma"^^xsd:string ; owl:deprecated true . obo:DOID_13955 obo:IAO_0000115 "An uterine fibroid that is located within the myometrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D25.1"^^xsd:string, "ICD9CM:218.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:93616000"^^xsd:string, "UMLS_CUI:C0153994"^^xsd:string ; oboInOwl:hasExactSynonym "Intramural leiomyoma of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13955"^^xsd:string ; a owl:Class ; rdfs:label "uterus interstitial leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13223 . obo:DOID_13956 obo:IAO_0000115 "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40166"^^xsd:string, "UMLS_CUI:C1519860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13956"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus myxoid leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13223, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_13957 obo:IAO_0000115 "An uterine fibroid that is characterized by the presence of adipocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40168"^^xsd:string, "UMLS_CUI:C1519856"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13957"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus lipoleiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13223, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_13958 obo:IAO_0000115 "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40167"^^xsd:string, "UMLS_CUI:C1519853"^^xsd:string ; oboInOwl:hasExactSynonym "uterine Corpus Symplastic leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13958"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus bizarre leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_13962 oboInOwl:hasExactSynonym "Focal retinitis and retinochoroiditis, peripheral"@en, "peripheral focal retinitis AND retinochoroiditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13962"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral focal retinitis and retinochoroiditis"^^xsd:string ; owl:deprecated true . obo:DOID_13963 obo:IAO_0000115 "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:193589009"^^xsd:string, "UMLS_CUI:C0271166"^^xsd:string ; oboInOwl:hasExactSynonym "Senile nuclear cataract"@en, "Senile nuclear sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13963"^^xsd:string ; a owl:Class ; rdfs:label "nuclear senile cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_13964 obo:IAO_0000115 "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.18"^^xsd:string, "SNOMEDCT_US_2021_03_01:247065006"^^xsd:string, "UMLS_CUI:C0152258"^^xsd:string ; oboInOwl:hasExactSynonym "hypermature cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13964"^^xsd:string ; a owl:Class ; rdfs:label "Morgagni cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_13969 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13969"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1397 oboInOwl:hasDbXref "ICD10CM:H05.1"^^xsd:string, "ICD9CM:376.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:44729001"^^xsd:string, "UMLS_CUI:C0155261"^^xsd:string ; oboInOwl:hasExactSynonym "chronic inflammation of orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1397"^^xsd:string ; a owl:Class ; rdfs:label "chronic orbital inflammation"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_13970 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13970"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_13972 obo:IAO_0000115 "A female breast cancer that is located_in the lower-outer qudrant of the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50.51"^^xsd:string, "ICD9CM:174.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:188155002"^^xsd:string, "UMLS_CUI:C0153553"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lower-outer quadrant of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13972"^^xsd:string ; a owl:Class ; rdfs:label "female breast lower-outer quadrant cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_13975 oboInOwl:hasExactSynonym "metastatic tumor to the Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13975"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the brain stem"^^xsd:string ; owl:deprecated true . obo:DOID_13976 oboInOwl:hasDbXref "ICD9CM:530.11"^^xsd:string, "MESH:D004942"^^xsd:string, "SNOMEDCT_US_2021_03_01:57643001"^^xsd:string, "UMLS_CUI:C0014869"^^xsd:string ; oboInOwl:hasExactSynonym "Peptic esophagitis"@en, "Peptic reflux disease"@en, "Reflux oesophagitis"@en, "reflux esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13976"^^xsd:string ; a owl:Class ; rdfs:label "peptic esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11963 . obo:DOID_13979 obo:IAO_0000115 "A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13978"^^xsd:string ; oboInOwl:hasExactSynonym "chronic pulmonary coccidioidomycosis"@en, "desert fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary pulmonary coccidioidomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_1398 obo:IAO_0000115 "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11681"^^xsd:string, "DOID:13509"^^xsd:string, "DOID:1396"^^xsd:string, "DOID:1494"^^xsd:string, "DOID:2114"^^xsd:string, "DOID:2293"^^xsd:string, "DOID:2922"^^xsd:string, "DOID:3564"^^xsd:string, "DOID:4191"^^xsd:string, "DOID:886"^^xsd:string, "DOID:948"^^xsd:string, "DOID:9639"^^xsd:string, "DOID:9644"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.12"^^xsd:string, "ICD9CM:360.13"^^xsd:string, "NCI:C34587"^^xsd:string, "SNOMEDCT_US_2021_03_01:57100005"^^xsd:string, "UMLS_CUI:C0014238"^^xsd:string ; oboInOwl:hasExactSynonym "Ectoparasitic disease"@en, "parasitemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1398"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "parasitic infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117 . obo:DOID_13980 obo:IAO_0000115 "A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coccidioidal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_1399 oboInOwl:hasDbXref "ICD9CM:375.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:193978007"^^xsd:string, "UMLS_CUI:C0155229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1399"^^xsd:string ; a owl:Class ; rdfs:label "primary lacrimal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_13994 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull."^^xsd:string ; oboInOwl:hasDbXref "GARD:6118"^^xsd:string, "ICD10CM:Q74.0"^^xsd:string, "MESH:D002973"^^xsd:string, "NCI:C75020"^^xsd:string, "OMIM:119600"^^xsd:string, "OMIM:216330"^^xsd:string, "ORDO:1452"^^xsd:string, "SNOMEDCT_US_2021_03_01:65976001"^^xsd:string, "UMLS_CUI:C0008928"^^xsd:string ; oboInOwl:hasExactSynonym "Marie-Sainton Disease"@en, "cleidocranial dysostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13994"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "cleidocranial dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_13995 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13995"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the small Intestine"^^xsd:string ; owl:deprecated true . obo:DOID_13996 oboInOwl:hasDbXref "NCI:C4007"^^xsd:string, "SNOMEDCT_US_2021_03_01:449074003"^^xsd:string, "UMLS_CUI:C0278805"^^xsd:string ; oboInOwl:hasExactSynonym "small intestinal Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10154, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_13999 oboInOwl:hasDbXref "ICD10CM:H10.53"^^xsd:string, "ICD9CM:372.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:193872007"^^xsd:string, "UMLS_CUI:C0155150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:13999"^^xsd:string ; a owl:Class ; rdfs:label "contact blepharoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2456 . obo:DOID_1400 obo:IAO_0000115 "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04"^^xsd:string, "ICD9CM:375"^^xsd:string, "MESH:D007766"^^xsd:string, "NCI:C26809"^^xsd:string, "SNOMEDCT_US_2021_03_01:267740009"^^xsd:string, "UMLS_CUI:C0022904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal apparatus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001750 ] ) ] . obo:DOID_14000 oboInOwl:hasDbXref "ICD10CM:H21.1"^^xsd:string, "ICD9CM:364.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:51995000"^^xsd:string, "UMLS_CUI:C0154916"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14000"^^xsd:string ; a owl:Class ; rdfs:label "rubeosis iridis"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_14001 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder"@en, "Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_14004 obo:IAO_0000115 "An aortic aneurysm that is located_in the thoracic aorta."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004282"^^xsd:string, "MESH:D017545"^^xsd:string, "NCI:C27001"^^xsd:string, "OMIM:132900"^^xsd:string, "OMIM:607086"^^xsd:string, "OMIM:607087"^^xsd:string, "OMIM:611788"^^xsd:string, "OMIM:613780"^^xsd:string, "OMIM:615436"^^xsd:string, "ORDO:91387"^^xsd:string, "SNOMEDCT_US_2021_03_01:155421001"^^xsd:string, "UMLS_CUI:C0162872"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14004"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "thoracic aortic aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_3627 . obo:DOID_14006 oboInOwl:hasDbXref "ICD9CM:442.83"^^xsd:string, "SNOMEDCT_US_2021_03_01:70405009"^^xsd:string, "UMLS_CUI:C0155747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14006"^^xsd:string ; a owl:Class ; rdfs:label "splenic artery aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001194 ] ) ] . obo:DOID_14018 oboInOwl:hasDbXref "ICD10CM:K70.3"^^xsd:string, "ICD9CM:571.2"^^xsd:string, "MESH:D008104"^^xsd:string, "NCI:C34782"^^xsd:string, "SNOMEDCT_US_2021_03_01:420054005"^^xsd:string, "UMLS_CUI:C0023891"^^xsd:string ; oboInOwl:hasExactSynonym "Alcoholic Cirrhosis"@en, "Alcoholic cirrhosis of liver"@en, "Laennec's cirrhosis"@en, "Laennec's cirrhosis, alcoholic"@en, "Portal cirrhosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14018"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic liver cirrhosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5082, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_14019 obo:IAO_0000115 "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A23.3"^^xsd:string, "ICD9CM:023.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:428174001"^^xsd:string, "UMLS_CUI:C0494040"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14019"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brucella canis brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11077, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000531 ] . obo:DOID_1402 oboInOwl:hasAlternativeId "DOID:1401"^^xsd:string ; oboInOwl:hasExactSynonym "Failure of lactation - delivered"@en, "Failure of lactation - delivered (disorder)"@en, "Failure of lactation, with delivery, with or without mention of antepartum condition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1402"^^xsd:string ; a owl:Class ; rdfs:label "obsolete agalactia"^^xsd:string ; owl:deprecated true . obo:DOID_14021 oboInOwl:hasDbXref "ICD10CM:M94.0"^^xsd:string, "ICD9CM:733.6"^^xsd:string, "MESH:D013991"^^xsd:string, "SNOMEDCT_US_2021_03_01:156848001"^^xsd:string, "UMLS_CUI:C0040213"^^xsd:string ; oboInOwl:hasExactSynonym "Costalchondritis"@en, "Costochondral junction syndrome"@en, "Costochondritis"@en, "Slipping rib syndrome"@en, "Tietze's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tietze syndrome"@en ; oboInOwl:id "DOID:14021"^^xsd:string ; a owl:Class ; rdfs:label "Tietze's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1222, obo:DOID_225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002293 ] ) ] . obo:DOID_14022 oboInOwl:hasDbXref "ICD10CM:M89.0"^^xsd:string, "ICD9CM:733.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:203490000"^^xsd:string, "UMLS_CUI:C0205930"^^xsd:string ; oboInOwl:hasExactSynonym "Algoneurodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14022"^^xsd:string ; a owl:Class ; rdfs:label "algoneurodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_3223 . obo:DOID_14026 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D52"^^xsd:string, "ICD9CM:281.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:85649008"^^xsd:string, "UMLS_CUI:C0151482"^^xsd:string ; oboInOwl:hasExactSynonym "Folate deficiency anaemia"@en, "Folate deficiency anemia"@en, "Folate-deficiency anaemia"@en, "Folate-deficiency anemia"@en, "Folate-deficient megaloblastic anaemia"@en, "folic acid deficiency anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14026"^^xsd:string ; a owl:Class ; rdfs:label "folic acid deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_14032 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:93948004"^^xsd:string, "UMLS_CUI:C0153495"^^xsd:string ; oboInOwl:hasExactSynonym "primary malignant neoplasm of parietal pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14032"^^xsd:string ; a owl:Class ; rdfs:label "malignant parietal pleura tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5158 . obo:DOID_14033 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:94140004"^^xsd:string, "UMLS_CUI:C0153496"^^xsd:string ; oboInOwl:hasExactSynonym "primary malignant neoplasm of visceral pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14033"^^xsd:string ; a owl:Class ; rdfs:label "malignant visceral pleura tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5158 . obo:DOID_14037 obo:IAO_0000115 "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:747.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:204431007"^^xsd:string, "UMLS_CUI:C0345010"^^xsd:string ; oboInOwl:hasExactSynonym "Atresia and stenosis of aorta"@en, "Congenital atresia and stenosis of aorta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14037"^^xsd:string ; a owl:Class ; rdfs:label "aorta atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_520 . obo:DOID_14038 oboInOwl:hasExactSynonym "(Sexual precocity NOS) or (puberty - precocious)"@en, "Precocious puberty"@en, "Precocious puberty (disorder)"@en, "Precocious sexual development (disorder)"@en, "Precocious true puberty"@en, "Premature puberty"@en, "Sexual precocity NOS"@en, "precocious puberty"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete precocious puberty"^^xsd:string ; owl:deprecated true . obo:DOID_14039 obo:IAO_0000115 "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation."^^xsd:string ; oboInOwl:hasDbXref "GARD:7411"^^xsd:string, "MESH:D016878"^^xsd:string, "NCI:C80303"^^xsd:string, "SNOMEDCT_US_2021_03_01:79268002"^^xsd:string, "UMLS_CUI:C0085404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14039"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "POEMS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_620 . obo:DOID_1404 oboInOwl:hasDbXref "ICD10CM:H40.24"^^xsd:string, "ICD9CM:365.24"^^xsd:string, "SNOMEDCT_US_2021_03_01:55129006"^^xsd:string, "UMLS_CUI:C0154948"^^xsd:string ; oboInOwl:hasExactSynonym "Residual stage of angle-closure glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1404"^^xsd:string ; a owl:Class ; rdfs:label "residual stage angle-closure glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1405 . obo:DOID_14040 obo:IAO_0000115 "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E31.0"^^xsd:string, "MESH:D016884"^^xsd:string, "NCI:C84576"^^xsd:string, "SNOMEDCT_US_2021_03_01:41864002"^^xsd:string, "UMLS_CUI:C0085409"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune polyglandular failure"@en, "Lloyd's syndrome"@en, "autoimmune polyendocrinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14040"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autoimmune polyendocrine syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_14041 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14041"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete endocrine tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_14042 obo:IAO_0000115 "A bipolar disorder that is characterized by at least one manic or mixed episode."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:296.50"^^xsd:string, "SNOMEDCT_US_2021_03_01:49468007"^^xsd:string, "UMLS_CUI:C0236773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14042"^^xsd:string ; a owl:Class ; rdfs:label "bipolar I disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3312 . obo:DOID_14043 oboInOwl:hasDbXref "ICD9CM:775.2"^^xsd:string, "MESH:D020941"^^xsd:string, "SNOMEDCT_US_2021_03_01:82178003"^^xsd:string, "UMLS_CUI:C0158982"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal Myasthenia Gravis"@en, "Neonatal myasthenia gravis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14043"^^xsd:string ; a owl:Class ; rdfs:label "neonatal myasthenia gravis"^^xsd:string ; rdfs:subClassOf obo:DOID_437 . obo:DOID_14044 oboInOwl:hasExactSynonym "acute Rheumatic Pericarditis"@en, "acute Rheumatic fever with pericarditis"@en, "acute rheumatic pericarditis"@en, "acute rheumatic pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14044"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rheumatic pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_14045 oboInOwl:hasExactSynonym "Infant of a diabetic mother syndrome"@en, "syndrome of infant of diabetic mother (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete syndrome of infant of a diabetic mother"^^xsd:string ; owl:deprecated true . obo:DOID_14049 obo:IAO_0000115 "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals."^^xsd:string ; oboInOwl:hasDbXref "GARD:12803"^^xsd:string, "MESH:D060446"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by dematiacious fungi"@en, "phaehyphomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14049"^^xsd:string ; a owl:Class ; rdfs:label "phaeohyphomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_5498 obo:NCBITaxon_5579 obo:NCBITaxon_5598 obo:NCBITaxon_5600 obo:NCBITaxon_5970 obo:NCBITaxon_66225 obo:NCBITaxon_86056 obo:NCBITaxon_89940 obo:NCBITaxon_91493 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0000955 obo:UBERON_0001179 obo:UBERON_0001825 obo:UBERON_0002048 ) ] ] . obo:DOID_1405 obo:IAO_0000115 "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.2"^^xsd:string, "ICD9CM:365.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:193544008"^^xsd:string, "UMLS_CUI:C0017606"^^xsd:string ; oboInOwl:hasExactSynonym "primary Angle Closure Glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1405"^^xsd:string ; a owl:Class ; rdfs:label "primary angle-closure glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13550 . obo:DOID_14056 oboInOwl:hasAlternativeId "DOID:14057"^^xsd:string ; oboInOwl:hasExactSynonym "Endocarditis-RH chronic"@en, "Rheumatic disease of endocardium, valve unspecified"@en, "Rheumatic endocarditis (disorder)"@en, "Rheumatic endocarditis NOS"@en, "Rheumatic endocarditis NOS (disorder)"@en, "acute Rheumatic Endocarditis"@en, "acute rheumatic endocarditis"@en, "acute rheumatic endocarditis (disorder)"@en, "rheumatic endocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14056"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rheumatic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_14059 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the paraurethral glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C68.1"^^xsd:string, "ICD9CM:189.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:93944002"^^xsd:string, "UMLS_CUI:C0153621"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of paraurethral gland"@en, "malignant tumor of the Paraurethral gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14059"^^xsd:string ; a owl:Class ; rdfs:label "paraurethral gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010145 ] ) ] . obo:DOID_1406 oboInOwl:hasDbXref "MESH:D007500"^^xsd:string, "NCI:C50621"^^xsd:string, "SNOMEDCT_US_2021_03_01:65074000"^^xsd:string, "UMLS_CUI:C0022081"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "iritis"^^xsd:string ; rdfs:subClassOf obo:DOID_240 . obo:DOID_14063 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14063"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_14064 oboInOwl:hasDbXref "NCI:C35443"^^xsd:string, "SNOMEDCT_US_2021_03_01:68544003"^^xsd:string, "UMLS_CUI:C0403414"^^xsd:string ; oboInOwl:hasExactSynonym "Post-Streptococcal Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14064"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute poststreptococcal glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_14066 oboInOwl:hasDbXref "NCI:C35587"^^xsd:string, "SNOMEDCT_US_2021_03_01:197585004"^^xsd:string, "UMLS_CUI:C0341689"^^xsd:string ; oboInOwl:hasExactSynonym "acute Diffuse Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14066"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute diffuse nephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4781 . obo:DOID_14067 obo:IAO_0000115 "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B50"^^xsd:string, "ICD9CM:084.0"^^xsd:string, "MESH:D016778"^^xsd:string, "NCI:C34798"^^xsd:string, "SNOMEDCT_US_2021_03_01:62676009"^^xsd:string, "UMLS_CUI:C0024535"^^xsd:string ; oboInOwl:hasExactSynonym "Falciparum Malaria"@en, "Falciparum malaria"@en, "Malaria fever, subtertian"@en, "malignant tertian fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14067"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Plasmodium falciparum malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5833 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_12365 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5833 ] ) ] . obo:DOID_14068 obo:IAO_0000115 "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:084.8"^^xsd:string, "MESH:D001742"^^xsd:string, "NCI:C34426"^^xsd:string, "SNOMEDCT_US_2021_03_01:56625005"^^xsd:string, "UMLS_CUI:C0005681"^^xsd:string ; oboInOwl:hasExactSynonym "Black water fever"@en, "Blackwater fever"@en, "Hemoglobinuric, malaria"@en, "Malarial Hemoglobinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14068"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blackwater fever"^^xsd:string ; rdfs:subClassOf obo:DOID_12365 . obo:DOID_14069 obo:IAO_0000115 "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B50.0"^^xsd:string, "MESH:D016779"^^xsd:string, "NCI:C128373"^^xsd:string, "SNOMEDCT_US_2021_03_01:53622003"^^xsd:string, "UMLS_CUI:C0024534"^^xsd:string ; oboInOwl:hasExactSynonym "Malarial encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14069"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_1407 oboInOwl:hasDbXref "GARD:10941"^^xsd:string, "MESH:D014606"^^xsd:string, "NCI:C35109"^^xsd:string, "SNOMEDCT_US_2021_03_01:193500005"^^xsd:string, "UMLS_CUI:C0042165"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1407"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anterior uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_12030 . obo:DOID_14070 oboInOwl:hasDbXref "ICD9CM:379.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:46888001"^^xsd:string, "UMLS_CUI:C0155379"^^xsd:string ; oboInOwl:hasExactSynonym "Nystagmus associated with disorder of the vestibular system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14070"^^xsd:string ; a owl:Class ; rdfs:label "vestibular nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_1242 . obo:DOID_14072 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14072"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neoplastic pregnancy complications"^^xsd:string ; owl:deprecated true . obo:DOID_14075 oboInOwl:hasDbXref "ICD10CM:G51.1"^^xsd:string, "ICD9CM:351.1"^^xsd:string, "MESH:D005155"^^xsd:string, "SNOMEDCT_US_2021_03_01:155071009"^^xsd:string, "UMLS_CUI:C0017407"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14075"^^xsd:string ; a owl:Class ; rdfs:label "geniculate ganglionitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1756 . obo:DOID_14080 oboInOwl:hasDbXref "GARD:2790"^^xsd:string, "ICD10CM:E26.02"^^xsd:string, "ICD9CM:255.11"^^xsd:string, "MESH:C563177"^^xsd:string, "NCI:C123248"^^xsd:string, "OMIM:103900"^^xsd:string, "SNOMEDCT_US_2021_03_01:237743003"^^xsd:string, "UMLS_CUI:C1260386"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glucocorticoid-remediable aldosteronism"^^xsd:string ; rdfs:subClassOf obo:DOID_446 . obo:DOID_14081 obo:IAO_0000115 "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:3344003"^^xsd:string, "UMLS_CUI:C0155507"^^xsd:string ; oboInOwl:hasExactSynonym "Toxic labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14081"^^xsd:string ; a owl:Class ; rdfs:label "toxic labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_14087 obo:IAO_0000115 "A bone inflammation disease that results_in inflammation located_in epicondyle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14162"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M77.1"^^xsd:string, "ICD9CM:726.32"^^xsd:string, "MESH:D013716"^^xsd:string, "NCI:C34589"^^xsd:string, "NCI:C35067"^^xsd:string, "SNOMEDCT_US_2021_03_01:156659008"^^xsd:string, "SNOMEDCT_US_2021_03_01:268088003"^^xsd:string, "UMLS_CUI:C0014488"^^xsd:string, "UMLS_CUI:C0039516"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral epicondylitis"@en, "andrel epicondylitis"@en, "archer's elbow"@en, "golfer's elbow"@en, "hockey elbow"@en, "medial epicondylitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "shooter's elbow"@en, "tennis elbow"@en ; oboInOwl:id "DOID:14087"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epicondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3342 . obo:DOID_14089 oboInOwl:hasDbXref "ICD9CM:521.08"^^xsd:string, "MESH:D017213"^^xsd:string, "SNOMEDCT_US_2021_03_01:30512007"^^xsd:string, "UMLS_CUI:C0162644"^^xsd:string ; oboInOwl:hasExactSynonym "Cementum caries"@en, "Dental caries of root surface"@en, "Root caries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14089"^^xsd:string ; a owl:Class ; rdfs:label "root caries"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_14090 oboInOwl:hasExactSynonym "Heartwater (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14090"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete heartwater disease"^^xsd:string ; owl:deprecated true . obo:DOID_14092 oboInOwl:hasDbXref "ICD10CM:I70.1"^^xsd:string, "ICD9CM:440.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:45281005"^^xsd:string, "UMLS_CUI:C0155734"^^xsd:string ; oboInOwl:hasExactSynonym "Atherosclerosis of renal artery"@en, "renal atherosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14092"^^xsd:string ; a owl:Class ; rdfs:label "renal artery atheroma"^^xsd:string ; rdfs:subClassOf obo:DOID_1936, obo:DOID_2388 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1936 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001184 ] ) ] . obo:DOID_14095 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050039"^^xsd:string, "DOID:0050040"^^xsd:string, "DOID:0050044"^^xsd:string, "DOID:0050045"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A77.1"^^xsd:string, "ICD9CM:082.1"^^xsd:string, "MESH:D001907"^^xsd:string, "SNOMEDCT_US_2021_03_01:186779000"^^xsd:string, "UMLS_CUI:C0006060"^^xsd:string ; oboInOwl:hasExactSynonym "African tick typhus"@en, "Rickettsia conorii spotted fever"@en, "South African tick-bite fever"@en, "african tick typhus"@en, "kenya tick typhus"@en, "marseilles fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Boutonneuse disease"@en, "Conor and Bruch's disease"@en, "Kenya fever"@en, "Kenyan tick typhus"@en, "Mediterranean spotted fever"@en, "Mediterranean tick fever"@en ; oboInOwl:id "DOID:14095"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "boutonneuse fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_14096 oboInOwl:hasDbXref "ICD9CM:606.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:198011008"^^xsd:string, "UMLS_CUI:C0021360"^^xsd:string ; oboInOwl:hasExactSynonym "Infertility due to extratesticular causes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14096"^^xsd:string ; a owl:Class ; rdfs:label "infertility due to extratesticular cause"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_14099 oboInOwl:hasDbXref "ICD9CM:537.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:13483000"^^xsd:string, "UMLS_CUI:C0700588"^^xsd:string ; oboInOwl:hasExactSynonym "acquired hypertrophic pyloric stenosis"@en, "adult hypertrophic pyloric stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14099"^^xsd:string ; a owl:Class ; rdfs:label "acquired gastric outlet stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_12639 . obo:DOID_14107 oboInOwl:hasDbXref "ICD10CM:M65.4"^^xsd:string, "ICD9CM:727.04"^^xsd:string, "MESH:D053684"^^xsd:string, "SNOMEDCT_US_2021_03_01:202905002"^^xsd:string, "UMLS_CUI:C0149870"^^xsd:string ; oboInOwl:hasExactSynonym "Radial styloid tenosynovitis"@en, "Tenosynovitis, de Quervain's"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14107"^^xsd:string ; a owl:Class ; rdfs:label "De Quervain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_14108 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14108"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_14110 obo:IAO_0000115 "A large intestine cancer that is located_in the anus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12240"^^xsd:string ; oboInOwl:hasDbXref "GARD:9300"^^xsd:string, "ICD10CM:C21.0"^^xsd:string, "ICD10CM:C21.1"^^xsd:string, "ICD9CM:154.2"^^xsd:string, "ICD9CM:154.3"^^xsd:string, "NCI:C7379"^^xsd:string, "SNOMEDCT_US_2021_03_01:93669004"^^xsd:string, "SNOMEDCT_US_2021_03_01:93676009"^^xsd:string, "UMLS_CUI:C0153445"^^xsd:string, "UMLS_CUI:C0153446"^^xsd:string ; oboInOwl:hasExactSynonym "anal cancer"@en, "malignant anal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3128, obo:DOID_5672 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] ) ] . obo:DOID_14111 oboInOwl:hasDbXref "ICD10CM:K14.2"^^xsd:string, "ICD9CM:529.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:7522008"^^xsd:string, "UMLS_CUI:C0155963"^^xsd:string ; oboInOwl:hasExactSynonym "Persistent tuberculum impar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14111"^^xsd:string ; a owl:Class ; rdfs:label "median rhomboid glossitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1456 . obo:DOID_14114 oboInOwl:hasExactSynonym "Congenital adhesions of tongue"@en, "Congenital adhesions of tongue (disorder)"@en, "adhesions,tongue-congenital"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14114"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital adhesion of tongue"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_14115 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A48.3"^^xsd:string, "ICD9CM:040.82"^^xsd:string, "MESH:D012772"^^xsd:string, "NCI:C35498"^^xsd:string, "SNOMEDCT_US_2021_03_01:18504008"^^xsd:string, "UMLS_CUI:C0600327"^^xsd:string ; oboInOwl:hasExactSynonym "TSS"@en, "Toxic Shock syndrome"@en, "Toxic shock syndrome"@en, "toxic shock"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14115"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "toxic shock syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:NCBITaxon_1280 obo:NCBITaxon_1314 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000707 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000059 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_14116 oboInOwl:hasAlternativeId "DOID:3137"^^xsd:string ; oboInOwl:hasDbXref "GARD:6957"^^xsd:string, "MESH:D008069"^^xsd:string, "NCI:C4392"^^xsd:string, "OMIM:151800"^^xsd:string, "OMIM:151900"^^xsd:string, "SNOMEDCT_US_2021_03_01:238902007"^^xsd:string, "SNOMEDCT_US_2021_03_01:65245004"^^xsd:string, "UMLS_CUI:C0023804"^^xsd:string, "UMLS_CUI:C0028253"^^xsd:string ; oboInOwl:hasExactSynonym "LIPODYSTROPHY, CEPHALOTHORACIC"@en, "LIPOMATOSIS, FAMILIAL BENIGN CERVICAL"@en, "Launois-Bensaude's lipomatosis"@en, "Madelung's neck"@en, "Multiple symmetric lipomatosis"@en, "cervical Symmetrical Lipomatosis"@en, "multiple symmetrical lipomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14116"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple symmetric lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 . obo:DOID_14117 oboInOwl:hasExactSynonym "LDL hyperlipoproteinemia"@en, "Pure hypercholesterolaemia"@en, "Pure hypercholesterolemia"@en, "Pure hypercholesterolemia (disorder)"@en, "Pure hypercholesterolemia NOS (disorder)"@en, "hyperlipidemia, group A (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14117"^^xsd:string ; a owl:Class ; rdfs:label "obsolete group A hyperlipidemia"^^xsd:string ; owl:deprecated true . obo:DOID_14118 obo:IAO_0000115 "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides."^^xsd:string ; oboInOwl:hasDbXref "GARD:12241"^^xsd:string, "ICD10CM:E78.3"^^xsd:string, "ICD9CM:272.3"^^xsd:string, "MESH:D008072"^^xsd:string, "NCI:C84771"^^xsd:string, "OMIM:238600"^^xsd:string, "ORDO:309015"^^xsd:string, "SNOMEDCT_US_2021_03_01:34171006"^^xsd:string, "UMLS_CUI:C0023817"^^xsd:string ; oboInOwl:hasExactSynonym "Fredrickson type I hyperlipoproteinemia"@en, "Fredrickson type I lipaemia"@en, "familial LPL deficiency"@en, "familial chylomicronemia syndrome"@en, "familial hyperlipoproteinemia type I"@en, "hypercholesterinaemic xanthomatosis"@en, "hyperchylomicronemia"@en, "mixed hyperglyceridemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial lipoprotein lipase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_1412 obo:IAO_0000115 "A urinary system disease which consists of the presence of bacteria in urine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R82.71"^^xsd:string, "MEDDRA:10004056"^^xsd:string, "MESH:D001437"^^xsd:string, "SNOMEDCT_US_2021_03_01:61373006"^^xsd:string, "UMLS_CUI:C0004659"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1412"^^xsd:string ; a owl:Class ; rdfs:label "bacteriuria"^^xsd:string ; rdfs:subClassOf obo:DOID_18 . obo:DOID_14121 oboInOwl:hasDbXref "MESH:D018438"^^xsd:string, "UMLS_CUI:C0242645"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14121"^^xsd:string ; a owl:Class ; rdfs:label "blue toe syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1461, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_14125 oboInOwl:hasDbXref "NCI:C5826"^^xsd:string, "SNOMEDCT_US_2021_03_01:126972009"^^xsd:string, "UMLS_CUI:C1263898"^^xsd:string ; oboInOwl:hasExactSynonym "VIth Cranial nerve tumors"@en, "neoplasm of abducens nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "abducens nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_14130 obo:IAO_0000115 "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.12"^^xsd:string, "ICD9CM:618.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:441891001"^^xsd:string, "UMLS_CUI:C2711750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14130"^^xsd:string ; a owl:Class ; rdfs:label "lateral cystocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_14131 obo:IAO_0000115 "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.11"^^xsd:string, "ICD9CM:618.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:423633003"^^xsd:string, "UMLS_CUI:C1456248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14131"^^xsd:string ; a owl:Class ; rdfs:label "midline cystocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_14133 obo:IAO_0000115 "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:620.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:69186005"^^xsd:string, "UMLS_CUI:C0152079"^^xsd:string ; oboInOwl:hasExactSynonym "Broad ligament laceration syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14133"^^xsd:string ; a owl:Class ; rdfs:label "Masters-Allen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_14139 oboInOwl:hasDbXref "NCI:C5601"^^xsd:string, "UMLS_CUI:C1332268"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_14110, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ) ] . obo:DOID_1414 obo:IAO_0000115 "An ovarian disease that is characterized by irregular or absent ovulation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:256.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:267399006"^^xsd:string, "UMLS_CUI:C0029697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1414"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_14140 oboInOwl:hasDbXref "ICD9CM:521.33"^^xsd:string, "UMLS_CUI:C1456163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14140"^^xsd:string ; a owl:Class ; rdfs:label "pulp erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_2498 . obo:DOID_14145 oboInOwl:hasDbXref "NCI:C4639"^^xsd:string, "SNOMEDCT_US_2021_03_01:276821000"^^xsd:string, "UMLS_CUI:C0349538"^^xsd:string ; oboInOwl:hasExactSynonym "anal melanoma"@en, "malignant melanoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14145"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant anus melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14110, obo:DOID_1909, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ] . obo:DOID_14146 obo:IAO_0000115 "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N20.1"^^xsd:string, "ICD9CM:592.1"^^xsd:string, "MESH:D053039"^^xsd:string, "NCI:C114696"^^xsd:string, "SNOMEDCT_US_2021_03_01:31054009"^^xsd:string, "UMLS_CUI:C0041952"^^xsd:string ; oboInOwl:hasExactSynonym "Ureteric calculus"@en, "Ureteric stone"@en, "calculus of ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureterolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1426 . obo:DOID_1415 oboInOwl:hasDbXref "GARD:6556"^^xsd:string, "MESH:D015799"^^xsd:string, "NCI:C84744"^^xsd:string, "OMIM:258870"^^xsd:string, "SNOMEDCT_US_2021_03_01:314467007"^^xsd:string, "UMLS_CUI:C0018425"^^xsd:string ; oboInOwl:hasExactSynonym "Gyrate atrophy of the choroid and/or retina"@en, "Ornithinemia with gyrate atrophy"@en, "gyrate atrophy of the retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1415"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "gyrate atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1417 . obo:DOID_14150 obo:IAO_0000115 "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5157"^^xsd:string, "UMLS_CUI:C1336044"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "spinal cord cancer"@en ; oboInOwl:id "DOID:14150"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5612, obo:DOID_5772, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_14151 oboInOwl:hasDbXref "NCI:C5158"^^xsd:string, "UMLS_CUI:C1336045"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_5612, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_14152 oboInOwl:hasDbXref "NCI:C5152"^^xsd:string, "UMLS_CUI:C1336049"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14152"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5612, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_14155 oboInOwl:hasDbXref "ICD9CM:377.32"^^xsd:string, "SNOMEDCT_US_2021_03_01:51604006"^^xsd:string, "UMLS_CUI:C0155301"^^xsd:string ; oboInOwl:hasExactSynonym "Retrobulbar neuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14155"^^xsd:string ; a owl:Class ; rdfs:label "acute retrobulbar neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_14157 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malnutrition of mild degree"^^xsd:string ; owl:deprecated true . obo:DOID_14159 oboInOwl:hasDbXref "ICD10CM:G91.1"^^xsd:string, "ICD9CM:331.4"^^xsd:string, "MESH:D006849"^^xsd:string, "NCI:C116347"^^xsd:string, "SNOMEDCT_US_2021_03_01:230746009"^^xsd:string, "UMLS_CUI:C0549423"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14159"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obstructive hydrocephalus"^^xsd:string ; rdfs:subClassOf obo:DOID_10908 . obo:DOID_14163 oboInOwl:hasExactSynonym "secondary malignant neoplasm of anus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant tumor to the anus"^^xsd:string ; owl:deprecated true . obo:DOID_14165 oboInOwl:hasDbXref "ICD9CM:386.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:194373002"^^xsd:string, "UMLS_CUI:C0155516"^^xsd:string ; oboInOwl:hasExactSynonym "Bilateral hyperactive labyrinth"@en, "hyperactive bilateral labyrinthine dysfunction"@en, "hyperactive labyrinth, bilateral"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14165"^^xsd:string ; a owl:Class ; rdfs:label "bilateral hyperactive labyrinth"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_1417 oboInOwl:hasDbXref "ICD10CM:H31.9"^^xsd:string, "ICD9CM:363.9"^^xsd:string, "MESH:D015862"^^xsd:string, "NCI:C34468"^^xsd:string, "SNOMEDCT_US_2021_03_01:193480005"^^xsd:string, "UMLS_CUI:C0008521"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1417"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3480 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] ) ] . obo:DOID_14172 oboInOwl:hasDbXref "ICD10CM:I09.81"^^xsd:string, "ICD9CM:398.91"^^xsd:string, "SNOMEDCT_US_2021_03_01:82523003"^^xsd:string, "UMLS_CUI:C0155582"^^xsd:string ; oboInOwl:hasExactSynonym "Congestive rheumatic heart failure"@en, "Rheumatic heart failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14172"^^xsd:string ; a owl:Class ; rdfs:label "rheumatic congestive heart failure"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_14174 oboInOwl:hasDbXref "MESH:D018306"^^xsd:string, "NCI:C3791"^^xsd:string, "SNOMEDCT_US_2021_03_01:302832007"^^xsd:string, "UMLS_CUI:C0206719"^^xsd:string ; oboInOwl:hasExactSynonym "Neurolipocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14174"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central neurocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3541 . obo:DOID_14175 oboInOwl:hasDbXref "GARD:7855"^^xsd:string, "ICD10CM:Q85.8"^^xsd:string, "MESH:D006623"^^xsd:string, "NCI:C3105"^^xsd:string, "OMIM:193300"^^xsd:string, "SNOMEDCT_US_2021_03_01:46659004"^^xsd:string, "UMLS_CUI:C0019562"^^xsd:string ; oboInOwl:hasExactSynonym "Hippel Lindau syndrome"@en, "Von Hippel-Lindau syndrome"@en, "von Hippel-Lindau syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14175"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "von Hippel-Lindau disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5241 . obo:DOID_14176 obo:IAO_0000115 "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions."^^xsd:string ; oboInOwl:hasDbXref "GARD:10371"^^xsd:string, "ICD10CM:D80.3"^^xsd:string, "MESH:D017099"^^xsd:string, "NCI:C27142"^^xsd:string, "SNOMEDCT_US_2021_03_01:190981001"^^xsd:string, "UMLS_CUI:C0162539"^^xsd:string ; oboInOwl:hasExactSynonym "Immunoglobin G subclass deficiency"@en, "Selective IgG Immunodeficiency"@en, "Selective Immunoglobulin G Subclass deficiency"@en, "Selective deficiency of IgG"@en, "Selective immunoglobulin G deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14176"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "selective IgG deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_14177 oboInOwl:hasDbXref "ICD9CM:279.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:190983003"^^xsd:string, "UMLS_CUI:C1457897"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital hypogammaglobulinaemia"@en, "Congenital hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14177"^^xsd:string ; a owl:Class ; rdfs:label "congenital hypogammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_14178 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14178"^^xsd:string ; a owl:Class ; rdfs:label "obsolete immunodeficiency with increased IgM"^^xsd:string ; owl:deprecated true . obo:DOID_14179 obo:IAO_0000115 "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537409"^^xsd:string, "NCI:C3822"^^xsd:string, "OMIM:300755"^^xsd:string, "ORDO:47"^^xsd:string, "SNOMEDCT_US_2021_03_01:65880007"^^xsd:string, "UMLS_CUI:C0221026"^^xsd:string ; oboInOwl:hasExactSynonym "BTK deficiency"@en, "Bruton agammaglobulinemia tyrosine kinase deficiency"@en, "Bruton's Sex-Linked Agammaglobulinemia"@en, "Bruton's agammaglobulinaemia"@en, "Bruton's type agammaglobulinemia"@en, "Bruton-type agammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14179"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked agammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_14181 oboInOwl:hasDbXref "ICD10CM:M75.3"^^xsd:string, "ICD9CM:726.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:239957000"^^xsd:string, "UMLS_CUI:C0158303"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14181"^^xsd:string ; a owl:Class ; rdfs:label "calcific tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_971 . obo:DOID_14182 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the choroid"^^xsd:string ; owl:deprecated true . obo:DOID_14183 oboInOwl:hasDbXref "ICD10CM:G62.1"^^xsd:string, "ICD9CM:357.5"^^xsd:string, "MESH:D020269"^^xsd:string, "NCI:C26926"^^xsd:string, "SNOMEDCT_US_2021_03_01:7916009"^^xsd:string, "UMLS_CUI:C0085677"^^xsd:string ; oboInOwl:hasExactSynonym "Alcohol-related polyneuropathy"@en, "Alcoholic polyneuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2537, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] ; skos:exactMatch "MESH:D020269"^^xsd:string . obo:DOID_14184 oboInOwl:hasDbXref "ICD10CM:G62.0"^^xsd:string, "ICD9CM:357.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:7339009"^^xsd:string, "UMLS_CUI:C0154762"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14184"^^xsd:string ; a owl:Class ; rdfs:label "polyneuropathy due to drug"^^xsd:string ; rdfs:subClassOf obo:DOID_2537 . obo:DOID_14188 obo:IAO_0000115 "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M75.0"^^xsd:string, "ICD9CM:726.0"^^xsd:string, "MESH:D002062"^^xsd:string, "SNOMEDCT_US_2021_03_01:156664007"^^xsd:string, "UMLS_CUI:C0311223"^^xsd:string ; oboInOwl:hasExactSynonym "Adhesive capsulitis of shoulder"@en, "adhesions-capsulitis,shoulder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14188"^^xsd:string ; a owl:Class ; rdfs:label "frozen shoulder"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_1419 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1419"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_14190 oboInOwl:hasExactSynonym "Induced psychotic disorder"@en, "Shared paranoid disorder"@en, "Shared psychotic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14190"^^xsd:string ; a owl:Class ; rdfs:label "obsolete shared paranoid disease"^^xsd:string ; owl:deprecated true . obo:DOID_14191 oboInOwl:hasExactSynonym "Paranoid state, simple"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14191"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple paranoid state"^^xsd:string ; owl:deprecated true . obo:DOID_14192 oboInOwl:hasDbXref "ICD9CM:726.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:202840002"^^xsd:string, "UMLS_CUI:C0158304"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14192"^^xsd:string ; a owl:Class ; rdfs:label "bicipital tenosynovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_970 . obo:DOID_14199 oboInOwl:hasDbXref "ICD10CM:H27.13"^^xsd:string, "ICD9CM:379.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:194161005"^^xsd:string, "UMLS_CUI:C0155373"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14199"^^xsd:string ; a owl:Class ; rdfs:label "posterior dislocation of lens"^^xsd:string ; rdfs:subClassOf obo:DOID_1242 . obo:DOID_14200 oboInOwl:hasExactSynonym "Diplopia (disorder)"@en, "Double vision"@en, "diplopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14200"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diplopia"^^xsd:string ; owl:deprecated true . obo:DOID_14202 oboInOwl:hasExactSynonym "adult onset dermatomyositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14202"^^xsd:string ; a owl:Class ; rdfs:label "adult dermatomyositis"^^xsd:string ; rdfs:subClassOf obo:DOID_10223, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_14203 oboInOwl:hasDbXref "ICD10CM:M33.0"^^xsd:string, "MESH:D003882"^^xsd:string, "NCI:C27576"^^xsd:string, "SNOMEDCT_US_2021_03_01:1212005"^^xsd:string, "UMLS_CUI:C0263666"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile dermatomyositis"@en, "childhood Dermatomyositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood type dermatomyositis"^^xsd:string ; rdfs:subClassOf obo:DOID_10223, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_14213 obo:IAO_0000115 "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14763"^^xsd:string ; oboInOwl:hasDbXref "GARD:6734"^^xsd:string, "ICD10CM:E83.39"^^xsd:string, "MESH:C562440"^^xsd:string, "MESH:D007014"^^xsd:string, "NCI:C26798"^^xsd:string, "ORDO:436"^^xsd:string, "SNOMEDCT_US_2021_03_01:30174008"^^xsd:string, "SNOMEDCT_US_2021_03_01:70848009"^^xsd:string, "UMLS_CUI:C0020630"^^xsd:string, "UMLS_CUI:C0220743"^^xsd:string ; oboInOwl:hasExactSynonym "childhood hypophosphatasia"@en, "deficiency of alkaline phosphatase"@en, "hypophospatasia, childhood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_14215 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperamylasemia"^^xsd:string ; owl:deprecated true . obo:DOID_14218 obo:IAO_0000115 "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine."^^xsd:string ; oboInOwl:hasDbXref "GARD:19"^^xsd:string, "MESH:D054067"^^xsd:string, "NCI:C84672"^^xsd:string, "OMIM:274270"^^xsd:string, "SNOMEDCT_US_2021_03_01:238016000"^^xsd:string, "UMLS_CUI:C1959620"^^xsd:string, "UMLS_CUI:C3495551"^^xsd:string ; oboInOwl:hasExactSynonym "Dihydropyrimidine dehydrogenase deficiency"@en, "Dihydrouracil Dehydrogenase deficiency"@en, "familial pyrimidinaemia"@en, "thymine-uracilurea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14218"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dihydropyrimidine dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_653 . obo:DOID_14219 obo:IAO_0000115 "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine."^^xsd:string ; oboInOwl:hasDbXref "GARD:7552"^^xsd:string, "ICD10CM:N25.89"^^xsd:string, "MESH:D000141"^^xsd:string, "NCI:C28129"^^xsd:string, "OMIM:179830"^^xsd:string, "OMIM:267200"^^xsd:string, "OMIM:602722"^^xsd:string, "SNOMEDCT_US_2021_03_01:1776003"^^xsd:string, "UMLS_CUI:C0001126"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14219"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "renal tubular acidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_447 . obo:DOID_14221 obo:IAO_0000115 "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000195"^^xsd:string, "GARD:9226"^^xsd:string, "ICD10CM:E88.81"^^xsd:string, "ICD9CM:277.7"^^xsd:string, "MESH:D024821"^^xsd:string, "NCI:C84442"^^xsd:string, "OMIM:605552"^^xsd:string, "SNOMEDCT_US_2021_03_01:190394009"^^xsd:string, "UMLS_CUI:C0524620"^^xsd:string ; oboInOwl:hasExactSynonym "abdominal obesity-metabolic syndrome 1"@en, "dysmetabolic syndrome X"@en, "metabolic syndrome X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14221"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "abdominal obesity-metabolic syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060611 . obo:DOID_14223 obo:IAO_0000115 "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions."^^xsd:string ; oboInOwl:hasDbXref "GARD:7231"^^xsd:string, "ICD10CM:E70.29"^^xsd:string, "MESH:D009794"^^xsd:string, "NCI:C84938"^^xsd:string, "SNOMEDCT_US_2021_03_01:21924005"^^xsd:string, "UMLS_CUI:C0028817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ochronosis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_14224 oboInOwl:hasDbXref "NCI:C35314"^^xsd:string, "SNOMEDCT_US_2021_03_01:81089005"^^xsd:string, "UMLS_CUI:C0264324"^^xsd:string ; oboInOwl:hasExactSynonym "Calcification of trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheal calcification"^^xsd:string ; rdfs:subClassOf obo:DOID_3225 . obo:DOID_14225 obo:IAO_0000115 "A frontal sinusitis which lasts for less than 4 weeks."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01.1"^^xsd:string, "ICD9CM:461.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:155500003"^^xsd:string, "UMLS_CUI:C0155805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14225"^^xsd:string ; a owl:Class ; rdfs:label "acute frontal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10791 . obo:DOID_14227 obo:IAO_0000115 "A male infertility disease characterized by the absence of any measurable level of sperm in semen."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000279"^^xsd:string, "ICD10CM:N46.0"^^xsd:string, "ICD9CM:606.0"^^xsd:string, "MESH:D053713"^^xsd:string, "NCI:C80076"^^xsd:string, "ORDO:217034"^^xsd:string, "SNOMEDCT_US_2021_03_01:425558002"^^xsd:string, "UMLS_CUI:C0004509"^^xsd:string ; oboInOwl:hasExactSynonym "spermatogenic failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14227"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "azoospermia"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 ; skos:exactMatch "MESH:D053713"^^xsd:string . obo:DOID_14228 obo:IAO_0000115 "A male fertility issue defined as a low sperm concentration in the ejaculate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N46.1"^^xsd:string, "ICD9CM:606.1"^^xsd:string, "MESH:D009845"^^xsd:string, "NCI:C34860"^^xsd:string, "UMLS_CUI:C0028960"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14228"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oligospermia"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_14230 obo:IAO_0000115 "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.05"^^xsd:string, "ICD9CM:379.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:26664005"^^xsd:string, "UMLS_CUI:C0155354"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14230"^^xsd:string ; a owl:Class ; rdfs:label "scleromalacia perforans"^^xsd:string ; rdfs:subClassOf obo:DOID_11343, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_14233 oboInOwl:hasDbXref "ICD10CM:H05.81"^^xsd:string, "ICD9CM:376.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:31021007"^^xsd:string, "UMLS_CUI:C0155285"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14233"^^xsd:string ; a owl:Class ; rdfs:label "orbital cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_14239 obo:IAO_0000115 "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050071"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:021.1"^^xsd:string, "ICD9CM:021.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:186292001"^^xsd:string, "SNOMEDCT_US_2021_03_01:186298002"^^xsd:string, "UMLS_CUI:C0029835"^^xsd:string, "UMLS_CUI:C0152942"^^xsd:string ; oboInOwl:hasExactSynonym "Enteric tularemia"@en, "intestinal tularaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14239"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "gastrointestinal tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123, obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2123 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_14243 obo:IAO_0000115 "A perichondritis of auricle which is persistent and long-lasting."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:194195009"^^xsd:string, "UMLS_CUI:C0155391"^^xsd:string ; oboInOwl:hasExactSynonym "chronic pinna perichondritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14243"^^xsd:string ; a owl:Class ; rdfs:label "chronic perichondritis of pinna"^^xsd:string ; rdfs:subClassOf obo:DOID_222 . obo:DOID_14244 oboInOwl:hasDbXref "ICD10CM:H04.21"^^xsd:string, "ICD9CM:375.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193984005"^^xsd:string, "UMLS_CUI:C0155233"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14244"^^xsd:string ; a owl:Class ; rdfs:label "epiphora due to excess lacrimation"^^xsd:string ; rdfs:subClassOf obo:DOID_13757 . obo:DOID_14245 oboInOwl:hasDbXref "ICD10CM:H35.35"^^xsd:string, "ICD9CM:362.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:14046000"^^xsd:string, "UMLS_CUI:C0154850"^^xsd:string ; oboInOwl:hasExactSynonym "Cystoid macular degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14245"^^xsd:string ; a owl:Class ; rdfs:label "cystoid macular retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_14247 obo:IAO_0000115 "A suppurative otitis media which is persistent and long-lasting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.3"^^xsd:string, "ICD9CM:382.3"^^xsd:string, "NCI:C128386"^^xsd:string, "SNOMEDCT_US_2021_03_01:38394007"^^xsd:string, "UMLS_CUI:C0271454"^^xsd:string ; oboInOwl:hasExactSynonym "chronic suppurative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14247"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic purulent otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11506 . obo:DOID_14248 obo:IAO_0000115 "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.2"^^xsd:string, "ICD9CM:382.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:41954005"^^xsd:string, "UMLS_CUI:C0155441"^^xsd:string ; oboInOwl:hasExactSynonym "chronic atticoantral suppurative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14248"^^xsd:string ; a owl:Class ; rdfs:label "chronic atticoantral disease"^^xsd:string ; rdfs:subClassOf obo:DOID_14247 . obo:DOID_1425 oboInOwl:hasDbXref "NCI:C35666"^^xsd:string, "SNOMEDCT_US_2021_03_01:266627003"^^xsd:string, "UMLS_CUI:C0034223"^^xsd:string ; oboInOwl:hasExactSynonym "Ureter abscess"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1425"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyoureter"^^xsd:string ; rdfs:subClassOf obo:DOID_1426 . obo:DOID_14250 obo:IAO_0000115 "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:10247"^^xsd:string, "ICD10CM:Q90"^^xsd:string, "ICD9CM:758.0"^^xsd:string, "MESH:D004314"^^xsd:string, "NCI:C2993"^^xsd:string, "OMIM:190685"^^xsd:string, "ORDO:870"^^xsd:string, "SNOMEDCT_US_2021_03_01:41040004"^^xsd:string, "UMLS_CUI:C0013080"^^xsd:string ; oboInOwl:hasExactSynonym "Complete trisomy 21 syndrome"@en, "Down's syndrome"@en, "Down's syndrome - trisomy 21"@en, "Downs syndrome"@en, "G Trisomy"@en, "trisomy 21 syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14250"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Down syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_14251 oboInOwl:hasDbXref "ICD10CM:H35.51"^^xsd:string, "ICD9CM:362.73"^^xsd:string, "SNOMEDCT_US_2021_03_01:79556007"^^xsd:string, "UMLS_CUI:C0154863"^^xsd:string ; oboInOwl:hasExactSynonym "Vitreoretinal dystrophies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14251"^^xsd:string ; a owl:Class ; rdfs:label "vitreoretinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_14252 oboInOwl:hasDbXref "ICD10CM:H35.54"^^xsd:string, "ICD9CM:362.76"^^xsd:string, "UMLS_CUI:C0154865"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14252"^^xsd:string ; a owl:Class ; rdfs:label "dystrophies primarily involving the retinal pigment epithelium"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_14253 oboInOwl:hasDbXref "ICD9CM:362.71"^^xsd:string, "UMLS_CUI:C0154861"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14253"^^xsd:string ; a owl:Class ; rdfs:label "retinal dystrophy in systemic or cerebroretinal lipidoses"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_14256 obo:IAO_0000115 "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain."^^xsd:string ; oboInOwl:hasDbXref "GARD:436"^^xsd:string, "ICD10CM:M06.1"^^xsd:string, "MESH:D016706"^^xsd:string, "SNOMEDCT_US_2021_03_01:239920006"^^xsd:string, "UMLS_CUI:C0085253"^^xsd:string ; oboInOwl:hasExactSynonym "adult onset Still's disease"@en, "adult-onset Still disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14256"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset Still's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7148, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_14258 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb"@en, "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder)"@en, "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14258"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_1426 obo:IAO_0000115 "A urinary system disease that is located_in the ureter."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014515"^^xsd:string, "UMLS_CUI:C0041954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1426"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteral disease"^^xsd:string ; rdfs:subClassOf obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_14261 obo:IAO_0000115 "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function."^^xsd:string ; oboInOwl:hasDbXref "GARD:6464"^^xsd:string, "ICD10CM:Q99.2"^^xsd:string, "ICD9CM:759.83"^^xsd:string, "MESH:D005600"^^xsd:string, "NCI:C84717"^^xsd:string, "OMIM:300624"^^xsd:string, "ORDO:908"^^xsd:string, "SNOMEDCT_US_2021_03_01:390007001"^^xsd:string, "UMLS_CUI:C0016667"^^xsd:string ; oboInOwl:hasExactSynonym "FRAGILE X MENTAL RETARDATION SYNDROME"@en, "MARKER X SYNDROME"@en, "MARTIN-BELL SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14261"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fragile X syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_14262 obo:IAO_0000115 "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B37.9"^^xsd:string, "ICD9CM:112.0"^^xsd:string, "MESH:D002180"^^xsd:string, "NCI:C28137"^^xsd:string, "SNOMEDCT_US_2021_03_01:187006006"^^xsd:string, "UMLS_CUI:C0006849"^^xsd:string ; oboInOwl:hasExactSynonym "Candidiasis of mouth"@en, "Oral moniliasis"@en, "Thrush, oral"@en, "thrush"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oral candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1508, obo:DOID_403, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] . obo:DOID_14263 oboInOwl:hasExactSynonym "Convulsions in newborn"@en, "Convulsions in the newborn (disorder)"@en, "Seizures in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fits in newborn"^^xsd:string ; owl:deprecated true . obo:DOID_14264 obo:IAO_0000115 "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020936"^^xsd:string, "NCI:C84593"^^xsd:string, "OMIM:121200"^^xsd:string, "OMIM:121201"^^xsd:string, "OMIM:269720"^^xsd:string, "ORDO:1949"^^xsd:string, "SNOMEDCT_US_2021_03_01:38281008"^^xsd:string, "UMLS_CUI:C0270851"^^xsd:string ; oboInOwl:hasExactSynonym "benign familial neonatal seizures"@en, "benign neonatal convulsions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14264"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "benign neonatal seizures"^^xsd:string ; rdfs:subClassOf obo:DOID_0050702 . obo:DOID_14265 obo:IAO_0000115 "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11210"^^xsd:string ; oboInOwl:hasDbXref "MESH:D011665"^^xsd:string, "NCI:C62436"^^xsd:string, "SNOMEDCT_US_2021_03_01:91434003"^^xsd:string, "UMLS_CUI:C0034088"^^xsd:string ; oboInOwl:hasExactSynonym "Pulmonic insufficiency"@en, "Pulmonic valve regurgitation"@en, "pulmonary incompetence"@en, "pulmonary incompetence, non-rheumatic"@en, "pulmonary insufficiency following trauma and surgery"@en, "pulmonary regurg."@en, "pulmonary regurgitation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14265"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Replacing outdated UMLS CUI."^^xsd:string ; rdfs:label "pulmonary valve insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_5749 ; skos:exactMatch "MESH:D011665"^^xsd:string . obo:DOID_14268 oboInOwl:hasDbXref "EFO:0004268"^^xsd:string, "ICD10CM:K83.09"^^xsd:string, "MESH:D015209"^^xsd:string, "SNOMEDCT_US_2021_03_01:4032000"^^xsd:string, "UMLS_CUI:C0008313"^^xsd:string ; oboInOwl:hasExactSynonym "fibrosing cholangitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14268"^^xsd:string ; a owl:Class ; rdfs:label "sclerosing cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_14269 oboInOwl:hasDbXref "ICD10CM:K83.09"^^xsd:string, "NCI:C35336"^^xsd:string, "SNOMEDCT_US_2021_03_01:197437002"^^xsd:string, "UMLS_CUI:C0267924"^^xsd:string ; oboInOwl:hasExactSynonym "Suppurative Cholangitis"@en, "Suppurative cholangitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14269"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "suppurative cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_1427 oboInOwl:hasExactSynonym "Unspecified disorder of pancreatic internal secretion"@en, "disorder of pancreatic internal secretion (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1427"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of pancreatic internal secretion"^^xsd:string ; owl:deprecated true . obo:DOID_14270 oboInOwl:hasDbXref "ICD10CM:K83.09"^^xsd:string, "NCI:C35372"^^xsd:string, "SNOMEDCT_US_2021_03_01:26918003"^^xsd:string, "UMLS_CUI:C0311273"^^xsd:string ; oboInOwl:hasExactSynonym "Ascending Cholangitis"@en, "Ascending cholangitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14270"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ascending cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_14271 oboInOwl:hasDbXref "NCI:C35334"^^xsd:string, "SNOMEDCT_US_2021_03_01:6215006"^^xsd:string, "UMLS_CUI:C0267917"^^xsd:string ; oboInOwl:hasExactSynonym "acute Cholangitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_14272 oboInOwl:hasDbXref "NCI:C34916"^^xsd:string, "SNOMEDCT_US_2021_03_01:111373008"^^xsd:string, "UMLS_CUI:C0031052"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_14275 obo:IAO_0000115 "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N90.5"^^xsd:string, "ICD9CM:624.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:82614005"^^xsd:string, "UMLS_CUI:C0156393"^^xsd:string ; oboInOwl:hasExactSynonym "Atrophy of vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14275"^^xsd:string ; a owl:Class ; rdfs:label "atrophic vulva"^^xsd:string ; rdfs:subClassOf obo:DOID_2059 . obo:DOID_14276 oboInOwl:hasDbXref "ICD10CM:M75.4"^^xsd:string, "MESH:D019534"^^xsd:string, "SNOMEDCT_US_2021_03_01:128498000"^^xsd:string, "UMLS_CUI:C0376685"^^xsd:string ; oboInOwl:hasExactSynonym "Impingement syndrome of shoulder region"@en, "Shoulder impingement syndrome"@en, "Subacromial impingement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14276"^^xsd:string ; a owl:Class ; rdfs:label "shoulder impingement syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_14278 oboInOwl:hasExactSynonym "Arthropathy NOS, of the hand (disorder)"@en, "Joint disorder NOS, of the hand (disorder)"@en, "Unspecified disorder of hand joint"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14278"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arthropathy of the hand"^^xsd:string ; owl:deprecated true . obo:DOID_1428 oboInOwl:hasDbXref "ICD10CM:E16"^^xsd:string, "ICD9CM:251"^^xsd:string, "SNOMEDCT_US_2021_03_01:190427005"^^xsd:string, "UMLS_CUI:C0154189"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1428"^^xsd:string ; a owl:Class ; rdfs:label "endocrine pancreas disease"^^xsd:string ; rdfs:subClassOf obo:DOID_26 . obo:DOID_14283 oboInOwl:hasDbXref "ICD10CM:M89.4"^^xsd:string, "MESH:D010004"^^xsd:string, "NCI:C85023"^^xsd:string, "OMIM:259100"^^xsd:string, "SNOMEDCT_US_2021_03_01:88220006"^^xsd:string, "UMLS_CUI:C0029411"^^xsd:string ; oboInOwl:hasExactSynonym "Pachydermoperiostosis of nail"@en, "Pachydermoperiostosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14283"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "primary hypertrophic osteoarthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_14284 oboInOwl:hasDbXref "MESH:D046788"^^xsd:string, "UMLS_CUI:C0877149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14284"^^xsd:string ; a owl:Class ; rdfs:label "patellofemoral pain syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_14286 oboInOwl:hasDbXref "ICD10CM:M14.6"^^xsd:string, "ICD9CM:713.5"^^xsd:string, "MESH:D001177"^^xsd:string, "SNOMEDCT_US_2021_03_01:156514009"^^xsd:string, "UMLS_CUI:C0003892"^^xsd:string ; oboInOwl:hasExactSynonym "Arthropathy associated with neurological disorder"@en, "Charcot's arthropathy"@en, "Neuropathic arthropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Charcot's joint"@en ; oboInOwl:id "DOID:14286"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic arthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_14287 obo:IAO_0000115 "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.02"^^xsd:string, "ICD9CM:379.06"^^xsd:string, "SNOMEDCT_US_2021_03_01:91612009"^^xsd:string, "UMLS_CUI:C0155356"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14287"^^xsd:string ; a owl:Class ; rdfs:label "brawny scleritis"^^xsd:string ; rdfs:subClassOf obo:DOID_13794 . obo:DOID_14289 obo:IAO_0000115 "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart."^^xsd:string ; oboInOwl:hasDbXref "GARD:6313"^^xsd:string, "ICD10CM:Q22.5"^^xsd:string, "ICD9CM:746.2"^^xsd:string, "MESH:D004437"^^xsd:string, "NCI:C84681"^^xsd:string, "OMIM:224700"^^xsd:string, "SNOMEDCT_US_2021_03_01:1796006"^^xsd:string, "UMLS_CUI:C0013481"^^xsd:string ; oboInOwl:hasExactSynonym "Ebstein's anomaly"@en, "Ebstein's anomaly of common atrioventricular valve"@en, "Ebstein's anomaly of right atrioventricular valve"@en, "Ebstein's anomaly of tricuspid valve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ebstein anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050826 . obo:DOID_14291 obo:IAO_0000115 "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature."^^xsd:string ; oboInOwl:hasDbXref "GARD:1100"^^xsd:string, "MESH:D044542"^^xsd:string, "NCI:C84820"^^xsd:string, "OMIM:PS151100"^^xsd:string, "ORDO:500"^^xsd:string, "SNOMEDCT_US_2021_03_01:111306001"^^xsd:string, "UMLS_CUI:C0175704"^^xsd:string ; oboInOwl:hasExactSynonym "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome"@en, "Generalized lentiginosis"@en, "Gorlin syndrome II"@en, "LEOPARD syndrome"^^xsd:string, "Lentiginosis profusa syndrome"@en, "Moynahan syndrome"@en, "Multiple lentigines syndrome"@en, "Progressive cardiomyopathic lentiginosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14291"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Noonan syndrome with multiple lentigines"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14292 obo:IAO_0000115 "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N90.4"^^xsd:string, "ICD9CM:624.0"^^xsd:string, "NCI:C34565"^^xsd:string, "SNOMEDCT_US_2021_03_01:198378001"^^xsd:string, "UMLS_CUI:C0013426"^^xsd:string ; oboInOwl:hasExactSynonym "Dystrophy of vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2059 . obo:DOID_14305 obo:IAO_0000115 "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004654"^^xsd:string, "NCI:C34575"^^xsd:string, "SNOMEDCT_US_2021_03_01:186184002"^^xsd:string, "UMLS_CUI:C0014014"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculous empyema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tuberculous empyema"^^xsd:string ; rdfs:subClassOf obo:DOID_3798 . obo:DOID_14308 oboInOwl:hasDbXref "MESH:D000796"^^xsd:string, "NCI:C7393"^^xsd:string, "SNOMEDCT_US_2021_03_01:254791004"^^xsd:string, "UMLS_CUI:C0002989"^^xsd:string ; oboInOwl:hasExactSynonym "Angiolymphoid Cutaneous hyperplasia"@en, "epithelioid hemangioma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14308"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin epithelioid hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_14311 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11749"^^xsd:string, "DOID:2330"^^xsd:string ; oboInOwl:hasExactSynonym "calcivirus enteritis"@en, "norwalk virus enteritis"@en, "small round virus enteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14311"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Norovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_14312 oboInOwl:hasExactSynonym "Non-toxic uninodular goiter (disorder)"@en, "Non-toxic uninodular goiter (disorder) [Ambiguous]"@en, "Non-toxic uninodular goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nontoxic uninodular goiter"^^xsd:string ; owl:deprecated true . obo:DOID_14313 oboInOwl:hasExactSynonym "Nodule of the Thyroid gland"@en, "Thyroid nodule"@en, "Thyroid nodule (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14313"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyroid nodule"^^xsd:string ; owl:deprecated true . obo:DOID_14319 obo:IAO_0000115 "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011001"^^xsd:string, "SNOMEDCT_US_2021_03_01:60485005"^^xsd:string, "UMLS_CUI:C0032241"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14319"^^xsd:string ; a owl:Class ; rdfs:label "pleuropneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1432 obo:IAO_0000115 "An eye disease characterized by a lack or loss of vision."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H54"^^xsd:string, "ICD9CM:369"^^xsd:string, "SNOMEDCT_US_2021_03_01:193698004"^^xsd:string, "UMLS_CUI:C0155020"^^xsd:string ; oboInOwl:hasExactSynonym "vision impairment"@en, "vision loss"@en, "visual impairment"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1432"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_14320 obo:IAO_0000115 "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F41.1"^^xsd:string, "ICD9CM:300.02"^^xsd:string, "NCI:C92622"^^xsd:string, "SNOMEDCT_US_2021_03_01:192401002"^^xsd:string, "UMLS_CUI:C0270549"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "generalized anxiety disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000412 ] . obo:DOID_14323 obo:IAO_0000115 "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens."^^xsd:string ; oboInOwl:hasDbXref "GARD:6975"^^xsd:string, "ICD10CM:Q87.4"^^xsd:string, "ICD9CM:759.82"^^xsd:string, "MESH:D008382"^^xsd:string, "NCI:C34807"^^xsd:string, "OMIM:154700"^^xsd:string, "SNOMEDCT_US_2021_03_01:19346006"^^xsd:string, "UMLS_CUI:C0024796"^^xsd:string ; oboInOwl:hasExactSynonym "Marfan's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14323"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Marfan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_520, obo:DOID_5614, obo:DOID_65, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000947 ] ) ], [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] ; skos:exactMatch "MESH:D008382"^^xsd:string . obo:DOID_14324 obo:IAO_0000115 "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B52"^^xsd:string, "ICD9CM:084.2"^^xsd:string, "NCI:C34799"^^xsd:string, "SNOMEDCT_US_2021_03_01:27618009"^^xsd:string, "UMLS_CUI:C0024536"^^xsd:string ; oboInOwl:hasExactSynonym "Malaria by Plasmodium malariae"@en, "Quartan Malaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Plasmodium malariae malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365 . obo:DOID_14325 obo:IAO_0000115 "A malaria that involves infection with more than one species of Plasmodium at the same time."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:084.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:21070001"^^xsd:string, "UMLS_CUI:C0153121"^^xsd:string ; oboInOwl:hasExactSynonym "Malaria fever by more than one parasite"@en, "malaria by more than one parasite"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14325"^^xsd:string ; a owl:Class ; rdfs:label "mixed malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_12365 . obo:DOID_14326 obo:IAO_0000115 "A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia."^^xsd:string ; oboInOwl:hasExactSynonym "Avian malaria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14326"^^xsd:string ; a owl:Class ; rdfs:label "obsolete avian malaria"^^xsd:string ; owl:deprecated true . obo:DOID_14327 oboInOwl:hasExactSynonym "Gonococcal pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14327"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_14330 obo:IAO_0000115 "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002508"^^xsd:string, "GARD:10251"^^xsd:string, "ICD10CM:G20"^^xsd:string, "ICD9CM:332"^^xsd:string, "KEGG:05012"^^xsd:string, "MESH:D010300"^^xsd:string, "NCI:C26845"^^xsd:string, "OMIM:PS168600"^^xsd:string, "ORDO:2828"^^xsd:string, "SNOMEDCT_US_2021_03_01:49049000"^^xsd:string, "UMLS_CUI:C0030567"^^xsd:string ; oboInOwl:hasExactSynonym "Parkinson disease"@en, "paralysis agitans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14330"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050890 . obo:DOID_14332 oboInOwl:hasDbXref "ICD10CM:G21.3"^^xsd:string, "MESH:D010301"^^xsd:string, "NCI:C34898"^^xsd:string, "SNOMEDCT_US_2021_03_01:192828004"^^xsd:string, "UMLS_CUI:C0030568"^^xsd:string ; oboInOwl:hasExactSynonym "Postencephalitic Parkinsonism"@en, "Postencephalitic parkinsonism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14332"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "postencephalitic Parkinson disease"^^xsd:string ; rdfs:subClassOf obo:DOID_13548 . obo:DOID_14336 obo:IAO_0000115 "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E28.0"^^xsd:string, "ICD9CM:256.0"^^xsd:string, "NCI:C113344"^^xsd:string, "SNOMEDCT_US_2021_03_01:190533004"^^xsd:string, "UMLS_CUI:C0154209"^^xsd:string ; oboInOwl:hasExactSynonym "hyperestrogenism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14336"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "estrogen excess"^^xsd:string ; rdfs:subClassOf obo:DOID_1414 . obo:DOID_14338 obo:IAO_0000115 "A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to Pseudomonas"@en, "Pneumonia due to Pseudomonas (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14338"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14339 oboInOwl:hasExactSynonym "Paraphrenia"@en, "Paraphrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14339"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paraphrenia"^^xsd:string ; owl:deprecated true . obo:DOID_14350 oboInOwl:hasDbXref "ICD10CM:E06.0"^^xsd:string, "MESH:D013969"^^xsd:string, "NCI:C129724"^^xsd:string, "SNOMEDCT_US_2021_03_01:3511005"^^xsd:string, "UMLS_CUI:C0040150"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious thyroiditis"@en, "Suppurative thyroiditis"@en, "acute suppurative thyroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "suppurative thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_7166 . obo:DOID_14351 oboInOwl:hasDbXref "ICD10CM:E06.5"^^xsd:string, "NCI:C35827"^^xsd:string, "SNOMEDCT_US_2021_03_01:190298005"^^xsd:string, "UMLS_CUI:C0154162"^^xsd:string ; oboInOwl:hasExactSynonym "Riedel fibrosing thyroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Riedel's fibrosing thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_7166 . obo:DOID_14353 oboInOwl:hasDbXref "ICD10CM:E06.0"^^xsd:string, "ICD9CM:245.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:154665005"^^xsd:string, "UMLS_CUI:C0001360"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14353"^^xsd:string ; a owl:Class ; rdfs:label "acute thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_7166 . obo:DOID_1436 oboInOwl:hasDbXref "ICD10CM:H18.71"^^xsd:string, "ICD9CM:371.71"^^xsd:string, "SNOMEDCT_US_2021_03_01:14748007"^^xsd:string, "UMLS_CUI:C0155135"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1436"^^xsd:string ; a owl:Class ; rdfs:label "corneal ectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_14360 obo:IAO_0000115 "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Opisthorchis viverrini (disorder)"@en, "Opisthorchis Viverrini Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14360"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Opisthorchis viverrini infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_14363 oboInOwl:hasExactSynonym "Congenital syphilitic meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14363"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete congenital syphilitic meningitis"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_14365 obo:IAO_0000115 "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1668"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.41"^^xsd:string, "ICD9CM:277.81"^^xsd:string, "MESH:C536778"^^xsd:string, "NCI:C98864"^^xsd:string, "OMIM:212140"^^xsd:string, "SNOMEDCT_US_2021_03_01:21764004"^^xsd:string, "UMLS_CUI:C0342788"^^xsd:string ; oboInOwl:hasExactSynonym "carnitine transporter deficiency"@en, "carnitine uptake defect"@en, "deficiency of plasma-membrane carnitine transporter"@en, "primary carnitine deficiency"@en, "renal carnitine transport defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14365"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "systemic primary carnitine deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_14374 obo:IAO_0000115 "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching."^^xsd:string ; oboInOwl:hasDbXref "NCI:C34855"^^xsd:string, "SNOMEDCT_US_2021_03_01:128870005"^^xsd:string, "UMLS_CUI:C0028425"^^xsd:string ; oboInOwl:hasExactSynonym "Crusted scabies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14374"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "norwegian scabies"^^xsd:string ; rdfs:subClassOf obo:DOID_8295 . obo:DOID_14384 obo:IAO_0000115 "A cerebrum cancer that is located_in the parietal lobe."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14383"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.3"^^xsd:string, "ICD9CM:191.3"^^xsd:string, "NCI:C5573"^^xsd:string, "SNOMEDCT_US_2021_03_01:126956001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93946000"^^xsd:string, "UMLS_CUI:C0153637"^^xsd:string, "UMLS_CUI:C1263888"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of parietal lobe"@en, "tumor of Parietal Lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14384"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parietal lobe neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001872 ] ) ] . obo:DOID_1439 oboInOwl:hasDbXref "ICD10CM:R82.81"^^xsd:string, "MESH:D011776"^^xsd:string, "NCI:C119028"^^xsd:string, "SNOMEDCT_US_2021_03_01:4800001"^^xsd:string, "UMLS_CUI:C0034359"^^xsd:string ; oboInOwl:hasExactSynonym "Pus cells in urine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1439"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyuria"^^xsd:string ; rdfs:subClassOf obo:DOID_18 . obo:DOID_14392 obo:IAO_0000115 "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I82.1"^^xsd:string, "ICD9CM:453.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:155491005"^^xsd:string, "UMLS_CUI:C0152250"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombophlebitis migrans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14392"^^xsd:string ; a owl:Class ; rdfs:label "thrombophlebitis migrans"^^xsd:string ; rdfs:subClassOf obo:DOID_3875, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] . obo:DOID_14397 obo:IAO_0000115 "A dysentery that involves protozoan infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A07.8"^^xsd:string, "ICD9CM:007.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:186127007"^^xsd:string, "UMLS_CUI:C0152507"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14397"^^xsd:string ; a owl:Class ; rdfs:label "protozoal dysentery"^^xsd:string ; rdfs:subClassOf obo:DOID_12384 . obo:DOID_1440 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017827"^^xsd:string, "NCI:C84830"^^xsd:string, "OMIM:109150"^^xsd:string, "SNOMEDCT_US_2021_03_01:91952008"^^xsd:string, "UMLS_CUI:C0024408"^^xsd:string ; oboInOwl:hasExactSynonym "Azorean disease"@en, "MJD"@en, "SCA3"@en, "spinocerebellar ataxia 3"@en, "spinocerebellar ataxia type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1440"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Machado-Joseph disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 ; skos:exactMatch "MESH:D017827"^^xsd:string . obo:DOID_14400 oboInOwl:hasDbXref "MESH:D019559"^^xsd:string, "NCI:C62578"^^xsd:string, "SNOMEDCT_US_2021_03_01:87730004"^^xsd:string, "UMLS_CUI:C0343084"^^xsd:string ; oboInOwl:hasExactSynonym "Capillary leak syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "capillary leak syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1271 ; skos:exactMatch "MESH:D019559"^^xsd:string . obo:DOID_14401 oboInOwl:hasExactSynonym "Cutis Marmorata"@en, "Cutis marmorata (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14401"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutis marmorata"^^xsd:string ; owl:deprecated true . obo:DOID_14402 oboInOwl:hasDbXref "ICD10CM:G62.81"^^xsd:string, "ICD9CM:357.82"^^xsd:string, "MESH:D011115"^^xsd:string, "SNOMEDCT_US_2021_03_01:230594005"^^xsd:string, "UMLS_CUI:C0393851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14402"^^xsd:string ; a owl:Class ; rdfs:label "critical illness polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2537 . obo:DOID_1441 obo:IAO_0000115 "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2478"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020754"^^xsd:string, "NCI:C82341"^^xsd:string, "OMIM:PS164400"^^xsd:string, "ORDO:94"^^xsd:string, "SNOMEDCT_US_2021_03_01:129609000"^^xsd:string, "UMLS_CUI:C0087012"^^xsd:string ; oboInOwl:hasExactSynonym "spinocerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1441"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal dominant cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050753, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14413 oboInOwl:hasDbXref "ICD9CM:386.56"^^xsd:string, "SNOMEDCT_US_2021_03_01:2058001"^^xsd:string, "UMLS_CUI:C0155520"^^xsd:string ; oboInOwl:hasExactSynonym "Bilateral loss of labyrinthine reactivity"@en, "Labyrinthine bilateral reactive loss"@en, "Loss of labyrinthine reactivity, bilateral"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14413"^^xsd:string ; a owl:Class ; rdfs:label "labyrinthine bilateral reactive loss"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_14415 obo:IAO_0000115 "An osteochondrosis that results_in death and fracture located_in hip joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14561"^^xsd:string ; oboInOwl:hasDbXref "GARD:6874"^^xsd:string, "ICD10CM:M91.2"^^xsd:string, "MESH:D007873"^^xsd:string, "NCI:C34766"^^xsd:string, "OMIM:150600"^^xsd:string, "SNOMEDCT_US_2021_03_01:15739006"^^xsd:string, "SNOMEDCT_US_2021_03_01:270545000"^^xsd:string, "UMLS_CUI:C0022441"^^xsd:string, "UMLS_CUI:C0023234"^^xsd:string ; oboInOwl:hasExactSynonym "Calve - Perthes' disease"@en, "Coxa plana"@en, "Juvenile osteochond-hip/pelvis"@en, "Juvenile osteochondrosis of hip and/or pelvis"@en, "Perthe's disease"@en, "Perthes disease"@en, "Pseudocoxalgia"@en, "juvenile osteochondrosis of hip and pelvis"@en, "osteochondrosis of Legg-Calve-Perthes"@en, "pseudocoxalgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Legg-Calve-Perthes symptom"@en ; oboInOwl:id "DOID:14415"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Legg-Calve-Perthes disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8125 . obo:DOID_14418 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:6286"^^xsd:string, "ICD10CM:B72"^^xsd:string, "ICD9CM:125.7"^^xsd:string, "MESH:D004320"^^xsd:string, "NCI:C84677"^^xsd:string, "SNOMEDCT_US_2021_03_01:48874008"^^xsd:string, "UMLS_CUI:C0013100"^^xsd:string ; oboInOwl:hasExactSynonym "Dracontiasis"@en, "Infection by Dracunculus medinensis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14418"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dracunculiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_14419 obo:IAO_0000115 "A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease."^^xsd:string ; oboInOwl:hasExactSynonym "Filariasis ozzardi infection"@en, "Mansonella Ozzardi Infection"@en, "Ozzardian filariasis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14419"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mansonella ozzardi infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1442 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1442"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Alpers syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_14421 obo:IAO_0000115 "A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14421"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Brugia malayi filariasis"^^xsd:string ; owl:deprecated true . obo:DOID_14422 obo:IAO_0000115 "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:125.4"^^xsd:string, "MESH:D004154"^^xsd:string, "NCI:C34540"^^xsd:string, "SNOMEDCT_US_2021_03_01:15629006"^^xsd:string, "UMLS_CUI:C0012517"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Dipetalonema"@en, "Infection by Dipetalonema perstans"@en, "dipetalonema infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14422"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dipetalonemiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, obo:DOID_5614, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_14423 oboInOwl:hasDbXref "GARD:6519"^^xsd:string, "ICD10CM:G52.1"^^xsd:string, "ICD9CM:352.1"^^xsd:string, "MESH:D020435"^^xsd:string, "SNOMEDCT_US_2021_03_01:43763009"^^xsd:string, "UMLS_CUI:C0154731"^^xsd:string ; oboInOwl:hasExactSynonym "Glossopharyngeal neuralgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14423"^^xsd:string ; a owl:Class ; rdfs:label "glossopharyngeal neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 . obo:DOID_14425 oboInOwl:hasExactSynonym "metastasis to intra-abdominal lymph node"@en, "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes"@en, "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder)"@en, "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder)"@en, "secondary malignant neoplasm of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14425"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of intra-abdominal lymph node"^^xsd:string ; owl:deprecated true . obo:DOID_14426 oboInOwl:hasExactSynonym "metastasis to intrathoracic lymph node"@en, "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes"@en, "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder)"@en, "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder)"@en, "secondary malignant neoplasm of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14426"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of intrathoracic lymph node"^^xsd:string ; owl:deprecated true . obo:DOID_14427 oboInOwl:hasDbXref "ICD9CM:251.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:11178005"^^xsd:string, "UMLS_CUI:C0154191"^^xsd:string ; oboInOwl:hasExactSynonym "Glucagon secretion abnormality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14427"^^xsd:string ; a owl:Class ; rdfs:label "abnormality of glucagon secretion"^^xsd:string ; rdfs:subClassOf obo:DOID_1428 . obo:DOID_1443 obo:IAO_0000115 "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:6019"^^xsd:string, "ICD9CM:331.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:52522001"^^xsd:string, "UMLS_CUI:C0154671"^^xsd:string ; oboInOwl:hasExactSynonym "Brain degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1443"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "cerebral degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_14433 obo:IAO_0000115 "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge."^^xsd:string ; oboInOwl:hasExactSynonym "Verotoxigenic Escherichia coli gastrointestinal tract infection"@en, "Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder)"@en, "intestinal infection due to enterohemorrhagic E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14433"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete enterohemorrhagic Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_14434 obo:IAO_0000115 "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever."^^xsd:string ; oboInOwl:hasExactSynonym "Enterotoxigenic Escherichia coli gastrointestinal tract infection"@en, "Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder)"@en, "intestinal infection due to enterotoxigenic E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14434"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete enterotoxigenic Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_14435 obo:IAO_0000115 "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.1"^^xsd:string, "ICD9CM:382.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:87665008"^^xsd:string, "UMLS_CUI:C0155440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14435"^^xsd:string ; a owl:Class ; rdfs:label "chronic tubotympanic suppurative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11506 . obo:DOID_14443 obo:IAO_0000115 "A physical urticaria induced by sweating."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.5"^^xsd:string, "ICD9CM:708.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:73098005"^^xsd:string, "UMLS_CUI:C0152230"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14443"^^xsd:string ; a owl:Class ; rdfs:label "cholinergic urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_0060220 . obo:DOID_14444 obo:IAO_0000115 "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.33"^^xsd:string, "ICD9CM:370.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:27886001"^^xsd:string, "UMLS_CUI:C0155090"^^xsd:string ; oboInOwl:hasExactSynonym "Sclerokeratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14444"^^xsd:string ; a owl:Class ; rdfs:label "sclerosing keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9858, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_14445 obo:IAO_0000115 "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.22"^^xsd:string, "ICD9CM:365.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:33647009"^^xsd:string, "UMLS_CUI:C0154947"^^xsd:string ; oboInOwl:hasExactSynonym "Anatomical narrow angle glaucoma"@en, "chronic angle-closure glaucoma"@en, "chronic narrow angle glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14445"^^xsd:string ; a owl:Class ; rdfs:label "chronic closed-angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1405 . obo:DOID_14447 obo:IAO_0000115 "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo."^^xsd:string ; oboInOwl:hasDbXref "GARD:2538"^^xsd:string, "ICD9CM:758.6"^^xsd:string, "MESH:D006059"^^xsd:string, "NCI:C61420"^^xsd:string, "SNOMEDCT_US_2021_03_01:268356004"^^xsd:string, "UMLS_CUI:C0018051"^^xsd:string ; oboInOwl:hasExactSynonym "Gonadal dysgenesis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14447"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gonadal dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_14448 obo:IAO_0000115 "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006061"^^xsd:string, "NCI:C120198"^^xsd:string, "OMIM:607080"^^xsd:string, "OMIM:PS400044"^^xsd:string, "UMLS_CUI:C0018054"^^xsd:string ; oboInOwl:hasExactSynonym "46 XY gonadal dysgenesis"@en, "Pure gonadal dysgenesis 46,XY"@en, "Swyer syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14448"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "46,XY sex reversal"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_14449 obo:IAO_0000115 "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006060"^^xsd:string, "NCI:C120199"^^xsd:string, "SNOMEDCT_US_2021_03_01:205682006"^^xsd:string, "UMLS_CUI:C0018055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed gonadal dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_14450 obo:IAO_0000115 "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female."^^xsd:string ; oboInOwl:hasDbXref "MESH:D023961"^^xsd:string, "NCI:C120197"^^xsd:string, "OMIM:PS233300"^^xsd:string, "ORDO:243"^^xsd:string, "UMLS_CUI:C0949595"^^xsd:string ; oboInOwl:hasExactSynonym "ovarian dysgenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14450"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "46 XX gonadal dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_14451 oboInOwl:hasDbXref "GARD:195"^^xsd:string, "ICD10CM:G72.3"^^xsd:string, "MESH:D020513"^^xsd:string, "NCI:C123429"^^xsd:string, "OMIM:170500"^^xsd:string, "ORDO:682"^^xsd:string, "SNOMEDCT_US_2021_03_01:304737009"^^xsd:string, "UMLS_CUI:C0238357"^^xsd:string ; oboInOwl:hasExactSynonym "familial hyperkalemic periodic paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14451"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperkalemic periodic paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_1029 . obo:DOID_14452 oboInOwl:hasDbXref "GARD:5557"^^xsd:string, "GARD:6729"^^xsd:string, "ICD10CM:G72.3"^^xsd:string, "MESH:D020514"^^xsd:string, "NCI:C84775"^^xsd:string, "OMIM:170400"^^xsd:string, "OMIM:613345"^^xsd:string, "ORDO:681"^^xsd:string, "SNOMEDCT_US_2021_03_01:240093008"^^xsd:string, "UMLS_CUI:C0238358"^^xsd:string ; oboInOwl:hasExactSynonym "Hypokalemic familial periodic paralysis"@en, "Hypokalemic periodic paralysis"@en, "Periodic paralysis I"@en, "Westphal disease"@en, "familial hypokalemic periodic paralysis"@en, "familial periodic paralysis"@en, "periodic hypokalemic paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hypokalemic periodic paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_1029 . obo:DOID_14453 obo:IAO_0000115 "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness."^^xsd:string ; oboInOwl:hasDbXref "GARD:6427"^^xsd:string, "ICD10CM:J67.0"^^xsd:string, "ICD9CM:495.0"^^xsd:string, "MESH:D005203"^^xsd:string, "NCI:C34605"^^xsd:string, "SNOMEDCT_US_2021_03_01:155581001"^^xsd:string, "UMLS_CUI:C0015634"^^xsd:string ; oboInOwl:hasExactSynonym "Farmers lung"@en, "farmer lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14453"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "farmer's lung"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_14456 obo:IAO_0000115 "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A23.0"^^xsd:string, "ICD9CM:023.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:186305007"^^xsd:string, "UMLS_CUI:C0302362"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14456"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brucella melitensis brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11077, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29459 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ] . obo:DOID_14457 obo:IAO_0000115 "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A23.1"^^xsd:string, "ICD9CM:023.1"^^xsd:string, "MESH:D002007"^^xsd:string, "SNOMEDCT_US_2021_03_01:427795000"^^xsd:string, "UMLS_CUI:C0302363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14457"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brucella abortus brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11077, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_235 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_14459 oboInOwl:hasDbXref "NCI:C6245"^^xsd:string, "SNOMEDCT_US_2021_03_01:121951000119101"^^xsd:string, "UMLS_CUI:C1335128"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of the orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of orbit"^^xsd:string ; rdfs:subClassOf obo:DOID_930, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004088 ] . obo:DOID_14463 oboInOwl:hasDbXref "NCI:C4546"^^xsd:string, "SNOMEDCT_US_2021_03_01:254998002"^^xsd:string, "UMLS_CUI:C0346352"^^xsd:string ; oboInOwl:hasExactSynonym "Cavernous Angioma of orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cavernous hemangioma of orbit"^^xsd:string ; rdfs:subClassOf obo:DOID_483 . obo:DOID_14464 obo:IAO_0000115 "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers."^^xsd:string ; oboInOwl:hasDbXref "GARD:7195"^^xsd:string, "ICD10CM:G21.0"^^xsd:string, "ICD9CM:333.92"^^xsd:string, "MESH:D009459"^^xsd:string, "NCI:C94829"^^xsd:string, "ORDO:94093"^^xsd:string, "SNOMEDCT_US_2021_03_01:15244003"^^xsd:string, "UMLS_CUI:C0027849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14464"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuroleptic malignant syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_14467 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14467"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug-induced persisting amnestic disease"^^xsd:string ; owl:deprecated true . obo:DOID_14472 obo:IAO_0000115 "A viral infectious disease that results in infection located in lung, has_material_basis_in Sin Nombre virus, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal orthohantavirus, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications."^^xsd:string ; oboInOwl:hasDbXref "GARD:69"^^xsd:string, "MESH:D018804"^^xsd:string, "NCI:C84747"^^xsd:string, "SNOMEDCT_US_2021_03_01:120639003"^^xsd:string, "UMLS_CUI:C0243025"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "hantavirus pulmonary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_850, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1980456 obo:NCBITaxon_1980459 obo:NCBITaxon_1980476 obo:NCBITaxon_1980491 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002113 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_137207 obo:NCBITaxon_37020 obo:NCBITaxon_42415 obo:NCBITaxon_447135 obo:NCBITaxon_56211 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019151 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_14473 obo:IAO_0000115 "An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to adenovirus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14473"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14474 obo:IAO_0000115 "A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to respiratory syncytial virus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14474"^^xsd:string ; a owl:Class ; rdfs:label "obsolete respiratory syncytial virus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14475 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever."^^xsd:string ; oboInOwl:hasExactSynonym "Parainfluenza virus pneumonia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14475"^^xsd:string ; a owl:Class ; rdfs:label "obsolete parainfluenzal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14476 obo:IAO_0000115 "A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure."^^xsd:string ; oboInOwl:hasExactSynonym "SARS-associated coronavirus pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14476"^^xsd:string ; a owl:Class ; rdfs:label "obsolete SARS coronavirus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14477 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies."^^xsd:string ; oboInOwl:hasExactSynonym "Cytomegaloviral pneumonia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14477"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_14482 obo:IAO_0000115 "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O26.4"^^xsd:string, "MESH:D006559"^^xsd:string, "NCI:C85003"^^xsd:string, "SNOMEDCT_US_2021_03_01:86081009"^^xsd:string, "UMLS_CUI:C0019343"^^xsd:string ; oboInOwl:hasExactSynonym "Gestational herpes"@en, "herpes gestationis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pemphigoid gestationis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080841, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] ) ] . obo:DOID_14483 oboInOwl:hasDbXref "MESH:D020150"^^xsd:string, "SNOMEDCT_US_2021_03_01:25113000"^^xsd:string, "UMLS_CUI:C0264746"^^xsd:string ; oboInOwl:hasExactSynonym "Chorea gravidarum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14483"^^xsd:string ; a owl:Class ; rdfs:label "chorea gravidarum"^^xsd:string ; rdfs:subClassOf obo:DOID_12859 . obo:DOID_14484 obo:IAO_0000115 "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation."^^xsd:string ; oboInOwl:hasDbXref "GARD:7692"^^xsd:string, "ICD10CM:B42"^^xsd:string, "ICD9CM:117.1"^^xsd:string, "MESH:D013174"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "UMLS_CUI:C0038034"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14484"^^xsd:string ; a owl:Class ; rdfs:label "sporotrichosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29908 ] . obo:DOID_14489 oboInOwl:hasDbXref "NCI:C6175"^^xsd:string, "UMLS_CUI:C1336876"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoma of ureter"@en, "ureteral Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14489"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteral lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11819, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_14490 oboInOwl:hasExactSynonym "metastatic neoplasm to the Ureter"@en, "secondary malignant neoplasm of ureter (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14490"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the ureter"^^xsd:string ; owl:deprecated true . obo:DOID_14491 oboInOwl:hasDbXref "NCI:C9356"^^xsd:string, "UMLS_CUI:C0854921"^^xsd:string ; oboInOwl:hasExactSynonym "regional Ureteric carcinoma"@en, "regional malignant ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "regional ureteric cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4939 . obo:DOID_14492 oboInOwl:hasExactSynonym "Ureter metastatic malignant neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14492"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm of ureter"^^xsd:string ; owl:deprecated true . obo:DOID_14495 oboInOwl:hasDbXref "ICD10CM:K91.1"^^xsd:string, "MESH:D004377"^^xsd:string, "NCI:C2994"^^xsd:string, "SNOMEDCT_US_2021_03_01:155785007"^^xsd:string, "UMLS_CUI:C0013288"^^xsd:string ; oboInOwl:hasExactSynonym "Dumping (jejunal) syndrome"@en, "Jejunal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14495"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dumping syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8439 . obo:DOID_14497 oboInOwl:hasDbXref "GARD:7899"^^xsd:string, "ICD10CM:E75.5"^^xsd:string, "MESH:D015223"^^xsd:string, "NCI:C61271"^^xsd:string, "SNOMEDCT_US_2021_03_01:82500001"^^xsd:string, "UMLS_CUI:C0043208"^^xsd:string ; oboInOwl:hasExactSynonym "Acid esterase deficiency"@en, "Acid lipase deficiency"@en, "Wolman xanthomatosis"@en, "Wolman's disease"@en, "Wolman's or triglyceride storage type III disease"@en, "Xanthomatosis, familial"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14497"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Wolman disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080217 . obo:DOID_14498 oboInOwl:hasDbXref "GARD:3268"^^xsd:string, "MESH:D008065"^^xsd:string, "NCI:C84829"^^xsd:string, "OMIM:247100"^^xsd:string, "SNOMEDCT_US_2021_03_01:38692000"^^xsd:string, "UMLS_CUI:C0023795"^^xsd:string ; oboInOwl:hasExactSynonym "Lipid proteinosis"@en, "Lipoid proteinosis"@en, "URBACH-WIETHE DISEASE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14498"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lipoid proteinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_14499 obo:IAO_0000115 "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "GARD:6400"^^xsd:string, "ICD10CM:E75.21"^^xsd:string, "MESH:D000795"^^xsd:string, "NCI:C84701"^^xsd:string, "OMIM:301500"^^xsd:string, "SNOMEDCT_US_2021_03_01:16652001"^^xsd:string, "UMLS_CUI:C0002986"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha-galactosidase A deficiency"@en, "Angiokeratoma Corporis Diffusum"@en, "Fabry's disease"@en, "alpha galactosidase deficiency"@en, "deficiency of melibiase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14499"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Fabry disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_145 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papilledema associated with retinal disorder"^^xsd:string ; owl:deprecated true . obo:DOID_14500 oboInOwl:hasDbXref "GARD:6473"^^xsd:string, "ICD10CM:E77.1"^^xsd:string, "MESH:D005645"^^xsd:string, "NCI:C61274"^^xsd:string, "OMIM:230000"^^xsd:string, "SNOMEDCT_US_2021_03_01:64716005"^^xsd:string, "UMLS_CUI:C0016788"^^xsd:string ; oboInOwl:hasExactSynonym "A-fucosidase deficiency"@en, "alpha fucosidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fucosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_14501 obo:IAO_0000115 "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:7654"^^xsd:string, "MESH:D016111"^^xsd:string, "NCI:C85070"^^xsd:string, "OMIM:270200"^^xsd:string, "ORDO:816"^^xsd:string, "SNOMEDCT_US_2021_03_01:111303009"^^xsd:string, "UMLS_CUI:C0037231"^^xsd:string ; oboInOwl:hasExactSynonym "FALDH deficiency"@en, "SLS"@en, "Sjogren Larsson syndrome"@en, "Sjogren-Larsson's syndrome"@en, "fatty acid alcohol oxidoreductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Sjogren-Larsson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14502 oboInOwl:hasDbXref "MESH:D015217"^^xsd:string, "SNOMEDCT_US_2021_03_01:57218003"^^xsd:string, "UMLS_CUI:C0008384"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14502"^^xsd:string ; a owl:Class ; rdfs:label "cholesterol ester storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080217 ; skos:exactMatch "MESH:D015217"^^xsd:string . obo:DOID_14503 oboInOwl:hasDbXref "GARD:10739"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "MESH:D009472"^^xsd:string, "NCI:C61257"^^xsd:string, "OMIM:PS256730"^^xsd:string, "ORDO:216"^^xsd:string, "ORDO:79262"^^xsd:string, "SNOMEDCT_US_2021_03_01:42012007"^^xsd:string, "UMLS_CUI:C0027877"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary ceroid lipofuscinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14503"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "neuronal ceroid lipofuscinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_14504 obo:IAO_0000115 "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050442"^^xsd:string, "DOID:0050443"^^xsd:string, "DOID:14770"^^xsd:string ; oboInOwl:hasDbXref "GARD:13334"^^xsd:string, "ICD10CM:E75.24"^^xsd:string, "MESH:D009542"^^xsd:string, "NCI:C61269"^^xsd:string, "SNOMEDCT_US_2021_03_01:58459009"^^xsd:string, "UMLS_CUI:C0028064"^^xsd:string ; oboInOwl:hasExactSynonym "Sphingomyelinase Deficiency Disease"@en, "lipoid histiocytosis"@en, "sphingomyelin lipidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14504"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Niemann-Pick disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_14507 oboInOwl:hasDbXref "ICD10CM:H18.46"^^xsd:string, "ICD9CM:371.48"^^xsd:string, "SNOMEDCT_US_2021_03_01:89182000"^^xsd:string, "UMLS_CUI:C0155123"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral degenerations of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14507"^^xsd:string ; a owl:Class ; rdfs:label "peripheral degeneration of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_14512 obo:IAO_0000115 "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14511"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B37.2"^^xsd:string, "ICD9CM:112.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:187014000"^^xsd:string, "UMLS_CUI:C0006842"^^xsd:string ; oboInOwl:hasExactSynonym "candidiasis of skin"@en, "candidiasis of skin and nails"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14512"^^xsd:string ; a owl:Class ; rdfs:label "candidal paronychia"^^xsd:string ; rdfs:subClassOf obo:DOID_1508, obo:DOID_4123, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] . obo:DOID_14515 obo:IAO_0000115 "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5528"^^xsd:string, "MESH:D017624"^^xsd:string, "NCI:C3718"^^xsd:string, "OMIM:194072"^^xsd:string, "SNOMEDCT_US_2021_03_01:715215007"^^xsd:string, "UMLS_CUI:C0206115"^^xsd:string ; oboInOwl:hasExactSynonym "11p partial monosomy syndrome"@en, "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome"@en, "chromosome 11p13 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14515"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "WAGR syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_14518 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14518"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Idiopathic cysts of iris and ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_14520 obo:IAO_0000115 "An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Enteritis due to adenovirus"@en, "adenoviral enteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14520"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_14521 oboInOwl:hasExactSynonym "cutaneous breast cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14521"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous breast cancer"^^xsd:string ; owl:deprecated true . obo:DOID_14522 oboInOwl:hasDbXref "ICD10CM:H34.21"^^xsd:string, "ICD9CM:362.33"^^xsd:string, "NCI:C35192"^^xsd:string, "SNOMEDCT_US_2021_03_01:776009"^^xsd:string, "UMLS_CUI:C0154839"^^xsd:string ; oboInOwl:hasExactSynonym "Partial Retinal Arterial Occlusion"@en, "Partial arterial retinal occlusion"@en, "Partial retinal arterial occlusion"@en, "Retinal partial arterial occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "partial arterial retinal occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_8483 . obo:DOID_14523 obo:IAO_0000115 "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H57.01"^^xsd:string, "ICD9CM:379.45"^^xsd:string, "SNOMEDCT_US_2021_03_01:21011008"^^xsd:string, "UMLS_CUI:C0155375"^^xsd:string ; oboInOwl:hasExactSynonym "Argyll Robertson phenomenon or pupil, nonsyphilitic"@en, "Argyll Robertson pupil, atypical"@en, "Atypical Argyll-Robertson pupil"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14523"^^xsd:string ; a owl:Class ; rdfs:label "Argyll Robertson pupil"^^xsd:string ; rdfs:subClassOf obo:DOID_11518 . obo:DOID_14524 oboInOwl:hasDbXref "ICD9CM:331.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:267687006"^^xsd:string, "UMLS_CUI:C0154669"^^xsd:string ; oboInOwl:hasExactSynonym "Senile brain degen."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14524"^^xsd:string ; a owl:Class ; rdfs:label "senile degeneration of brain"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_14525 obo:IAO_0000115 "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use."^^xsd:string ; oboInOwl:hasDbXref "GARD:7570"^^xsd:string, "ICD10CM:G93.7"^^xsd:string, "ICD9CM:331.81"^^xsd:string, "MESH:D012202"^^xsd:string, "NCI:C34983"^^xsd:string, "SNOMEDCT_US_2021_03_01:74351001"^^xsd:string, "UMLS_CUI:C0035400"^^xsd:string ; oboInOwl:hasExactSynonym "Reye's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14525"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Reye syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_14529 oboInOwl:hasDbXref "ICD10CM:K03.3"^^xsd:string, "ICD9CM:521.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:41918006"^^xsd:string, "UMLS_CUI:C0266878"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14529"^^xsd:string ; a owl:Class ; rdfs:label "external pathological resorption"^^xsd:string ; rdfs:subClassOf obo:DOID_13240 . obo:DOID_1453 oboInOwl:hasDbXref "ICD10CM:K14.4"^^xsd:string, "ICD9CM:529.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:196586009"^^xsd:string, "UMLS_CUI:C0155964"^^xsd:string ; oboInOwl:hasExactSynonym "Atrophy of tongue papillae"@en, "Glossitis, Hunter's"@en, "Hunter's glossitis"@en, "smooth atrophic tongue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1453"^^xsd:string ; a owl:Class ; rdfs:label "atrophic glossitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1456 . obo:DOID_14530 oboInOwl:hasExactSynonym "Syringomyelia and syringobulbia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14530"^^xsd:string ; a owl:Class ; rdfs:label "obsolete syringomyelia and syringobulbia"^^xsd:string ; owl:deprecated true . obo:DOID_14534 oboInOwl:hasDbXref "NCI:C5367"^^xsd:string, "UMLS_CUI:C1334569"^^xsd:string ; oboInOwl:hasExactSynonym "MPNST of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14534"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant cardiac peripheral nerve sheath neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5940 . obo:DOID_14535 oboInOwl:hasDbXref "NCI:C5371"^^xsd:string, "SNOMEDCT_US_2021_03_01:866080006"^^xsd:string, "UMLS_CUI:C1334566"^^xsd:string ; oboInOwl:hasExactSynonym "malignant cardiac germ cell tumour"@en, "malignant germ cell tumor of the Heart"@en, "malignant germ cell tumour of the Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14535"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant cardiac germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_117 . obo:DOID_14539 oboInOwl:hasExactSynonym "metastatic tumor to the Heart"@en, "secondary malignant neoplasm of heart (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14539"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to heart"^^xsd:string ; owl:deprecated true . obo:DOID_14542 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14542"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macular or paramacular focal retinitis and retinochoroiditis"^^xsd:string ; owl:deprecated true . obo:DOID_14544 obo:IAO_0000115 "A rete testis neoplasm that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8955"^^xsd:string, "UMLS_CUI:C0863024"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the rete testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of rete testis"@en ; oboInOwl:id "DOID:14544"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete testis adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5639, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003959 ] . obo:DOID_14545 obo:IAO_0000115 "A male reproductive organ cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39906"^^xsd:string, "UMLS_CUI:C1519233"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14545"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "seminal vesicle adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3856, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000998 ] . obo:DOID_14546 oboInOwl:hasDbXref "ICD10CM:C31.3"^^xsd:string, "ICD9CM:160.5"^^xsd:string, "NCI:C3543"^^xsd:string, "SNOMEDCT_US_2021_03_01:94067008"^^xsd:string, "UMLS_CUI:C0153479"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of Sphenoidal sinus"@en, "malignant tumor of sphenoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14546"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoidal sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050619 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001724 ] ) ] . obo:DOID_14547 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the sphenoid sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6066"^^xsd:string, "UMLS_CUI:C1336039"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Sphenoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14547"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoid sinus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14546, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001724 ] . obo:DOID_14548 oboInOwl:hasDbXref "ICD9CM:365.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:302895007"^^xsd:string, "UMLS_CUI:C0339572"^^xsd:string ; oboInOwl:hasExactSynonym "Borderline glaucoma steroid responder"@en, "Steroid responders borderline glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14548"^^xsd:string ; a owl:Class ; rdfs:label "steroid-induced glaucoma - borderline"^^xsd:string ; rdfs:subClassOf obo:DOID_9283 . obo:DOID_14549 oboInOwl:hasExactSynonym "Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear"@en, "Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear"^^xsd:string ; owl:deprecated true . obo:DOID_1455 obo:IAO_0000115 "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface."^^xsd:string ; oboInOwl:hasDbXref "GARD:6493"^^xsd:string, "ICD10CM:K14.1"^^xsd:string, "ICD9CM:529.1"^^xsd:string, "MESH:D005929"^^xsd:string, "NCI:C84588"^^xsd:string, "OMIM:137400"^^xsd:string, "SNOMEDCT_US_2021_03_01:59032001"^^xsd:string, "UMLS_CUI:C0017677"^^xsd:string ; oboInOwl:hasExactSynonym "Glossitis areata exfoliativa"@en, "Pityriasis linguae"@en, "benign migratory glossitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1455"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "geographic tongue"^^xsd:string ; rdfs:subClassOf obo:DOID_1453 . obo:DOID_14550 oboInOwl:hasDbXref "MESH:D012391"^^xsd:string, "UMLS_CUI:C0035851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14550"^^xsd:string ; a owl:Class ; rdfs:label "root resorption"^^xsd:string ; rdfs:subClassOf obo:DOID_13240 . obo:DOID_14555 oboInOwl:hasDbXref "ICD10CM:H47.14"^^xsd:string, "ICD9CM:377.04"^^xsd:string, "MESH:D009901"^^xsd:string, "SNOMEDCT_US_2021_03_01:87764000"^^xsd:string, "UMLS_CUI:C0152112"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14555"^^xsd:string ; a owl:Class ; rdfs:label "Foster-Kennedy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_146 . obo:DOID_14557 obo:IAO_0000115 "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I27.0"^^xsd:string, "ICD9CM:416.0"^^xsd:string, "OMIM:178600"^^xsd:string, "OMIM:265400"^^xsd:string, "OMIM:615342"^^xsd:string, "OMIM:615343"^^xsd:string, "OMIM:615344"^^xsd:string, "ORDO:422"^^xsd:string, "SNOMEDCT_US_2021_03_01:26174007"^^xsd:string, "UMLS_CUI:C0152171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14557"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary pulmonary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_12326 . obo:DOID_14558 oboInOwl:hasExactSynonym "Non-toxic multinodular goiter (disorder)"@en, "Non-toxic multinodular goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14558"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nontoxic multinodular goiter"^^xsd:string ; owl:deprecated true . obo:DOID_14559 oboInOwl:hasDbXref "ICD9CM:320.81"^^xsd:string, "UMLS_CUI:C0375197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14559"^^xsd:string ; a owl:Class ; rdfs:label "anaerobic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_1456 oboInOwl:hasDbXref "ICD10CM:K14.0"^^xsd:string, "ICD9CM:529.0"^^xsd:string, "MESH:D005928"^^xsd:string, "NCI:C112199"^^xsd:string, "SNOMEDCT_US_2021_03_01:155666003"^^xsd:string, "UMLS_CUI:C0017675"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glossitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 . obo:DOID_14566 obo:IAO_0000115 "A disease that is characterized by abnormally rapid cell division."^^xsd:string ; obo:OBI_9991118 "neoplasm"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0000818"^^xsd:string ; oboInOwl:hasExactSynonym "cell process disease"@en, "neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14566"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "disease of cellular proliferation"^^xsd:string ; rdfs:subClassOf obo:DOID_4 . obo:DOID_1458 oboInOwl:hasDbXref "ICD10CM:E89.0"^^xsd:string, "ICD9CM:244.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:27059002"^^xsd:string, "UMLS_CUI:C0154157"^^xsd:string ; oboInOwl:hasExactSynonym "Post-surgical hypothyroidism"@en, "Postoperative hypothyroidism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1458"^^xsd:string ; a owl:Class ; rdfs:label "postsurgical hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_1459 obo:IAO_0000115 "A thyroid gland disease which involves an underproduction of thyroid hormone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11630"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004705"^^xsd:string, "ICD10CM:E03.9"^^xsd:string, "ICD9CM:244.9"^^xsd:string, "MESH:D007037"^^xsd:string, "NCI:C26800"^^xsd:string, "SNOMEDCT_US_2021_03_01:267465007"^^xsd:string, "UMLS_CUI:C0020676"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid deficiency"@en, "Thyroid insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_146 oboInOwl:hasDbXref "GARD:7318"^^xsd:string, "ICD10CM:H47.1"^^xsd:string, "ICD9CM:377.0"^^xsd:string, "MESH:D010211"^^xsd:string, "NCI:C3307"^^xsd:string, "SNOMEDCT_US_2021_03_01:423341008"^^xsd:string, "UMLS_CUI:C0030353"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papilledema"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_1460 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1460"^^xsd:string ; a owl:Class ; rdfs:label "atheroembolism of kidney"^^xsd:string ; rdfs:subClassOf obo:DOID_1461, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_1461 obo:IAO_0000115 "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I75"^^xsd:string, "ICD9CM:445"^^xsd:string, "MESH:D017700"^^xsd:string, "SNOMEDCT_US_2021_03_01:10690002"^^xsd:string, "UMLS_CUI:C0149649"^^xsd:string ; oboInOwl:hasExactSynonym "atheroembolism"@en, "cholesterol crystal embolism"@en, "purple toe syndrome"@en, "trash foot"@en, "warfarin blue toe syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1461"^^xsd:string ; a owl:Class ; rdfs:label "cholesterol embolism"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_1465 oboInOwl:hasExactSynonym "Salmonella septicemia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1465"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_14654 oboInOwl:hasDbXref "ICD10CM:N41.9"^^xsd:string, "ICD9CM:601.9"^^xsd:string, "MESH:D011472"^^xsd:string, "NCI:C26866"^^xsd:string, "SNOMEDCT_US_2021_03_01:155907007"^^xsd:string, "UMLS_CUI:C0033581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14654"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_47 . obo:DOID_1466 oboInOwl:hasAlternativeId "DOID:9469"^^xsd:string ; oboInOwl:hasExactSynonym "localized Salmonella infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1466"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_14669 obo:IAO_0000115 "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:2015"^^xsd:string, "GARD:5724"^^xsd:string, "MESH:C538179"^^xsd:string, "OMIM:101800"^^xsd:string, "OMIM:614613"^^xsd:string, "ORDO:950"^^xsd:string, "SNOMEDCT_US_2021_03_01:66758006"^^xsd:string, "UMLS_CUI:C0220659"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14669"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrodysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_1467 obo:IAO_0000115 "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:41674001"^^xsd:string, "UMLS_CUI:C0155504"^^xsd:string ; oboInOwl:hasExactSynonym "acute serous labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1467"^^xsd:string ; a owl:Class ; rdfs:label "serous labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468 . obo:DOID_14670 obo:IAO_0000115 "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537632"^^xsd:string, "OMIM:239800"^^xsd:string, "ORDO:2213"^^xsd:string, "SNOMEDCT_US_2021_03_01:721836009"^^xsd:string, "UMLS_CUI:C0220742"^^xsd:string ; oboInOwl:hasExactSynonym "Bixler Christian Gorlin syndrome"@en, "Bixler syndrome"@en, "Bixler-Christian-Gorlin syndrome"@en, "HMC syndrome"@en, "Hypertelorism-Microtia-Clefting Syndrome"@en, "Hypertelorism-microtia-facial clefting syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14670"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hypertelorism, microtia, facial clefting syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14671 obo:IAO_0000115 "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3013"^^xsd:string, "MESH:C562441"^^xsd:string, "OMIM:243150"^^xsd:string, "ORDO:2300"^^xsd:string, "SNOMEDCT_US_2021_03_01:95472001"^^xsd:string, "UMLS_CUI:C0220744"^^xsd:string ; oboInOwl:hasExactSynonym "GIDID"@en, "MEDDRA:10028210"@en, "Multiple gastrointestinal atresias"@en, "familial intestinal polyatresia syndrome"@en, "gastrointestinal defects and immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14671"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple intestinal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14676 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14676"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete congenital contricting bands"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_14679 obo:IAO_0000115 "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:5443"^^xsd:string, "ICD10CM:Q87.2"^^xsd:string, "MESH:C536534"^^xsd:string, "OMIM:192350"^^xsd:string, "OMIM:276950"^^xsd:string, "SNOMEDCT_US_2021_03_01:205830006"^^xsd:string, "UMLS_CUI:C0220708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "VATER syndrome"@en ; oboInOwl:id "DOID:14679"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "VACTERL association"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_1468 obo:IAO_0000115 "An otitis interna which involves inflammation of the labyrinths."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H83.0"^^xsd:string, "ICD9CM:386.3"^^xsd:string, "MESH:D007762"^^xsd:string, "SNOMEDCT_US_2021_03_01:155239008"^^xsd:string, "UMLS_CUI:C0022893"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1468"^^xsd:string ; a owl:Class ; rdfs:label "labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3930, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_14680 oboInOwl:hasExactSynonym "VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary inflammatory vasculitis"^^xsd:string ; owl:deprecated true . obo:DOID_14681 obo:IAO_0000115 "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations."^^xsd:string ; oboInOwl:hasDbXref "GARD:4870"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:D056730"^^xsd:string, "NCI:C85068"^^xsd:string, "OMIM:180860"^^xsd:string, "SNOMEDCT_US_2021_03_01:15069006"^^xsd:string, "UMLS_CUI:C0175693"^^xsd:string ; oboInOwl:hasExactSynonym "Silver Russell Dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Silver-Russell syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_14683 oboInOwl:hasDbXref "GARD:6992"^^xsd:string, "MESH:C536036"^^xsd:string, "OMIM:155050"^^xsd:string, "SNOMEDCT_US_2021_03_01:715985008"^^xsd:string, "UMLS_CUI:C0220692"^^xsd:string ; oboInOwl:hasExactSynonym "binder type maxillonasal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14683"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Binder syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2163 . obo:DOID_14686 obo:IAO_0000115 "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment."^^xsd:string ; oboInOwl:hasDbXref "GARD:5701"^^xsd:string, "ICD10CM:Q13.81"^^xsd:string, "MESH:C535679"^^xsd:string, "NCI:C131001"^^xsd:string, "ORDO:782"^^xsd:string, "SNOMEDCT_US_2021_03_01:47507006"^^xsd:string, "UMLS_CUI:C0265341"^^xsd:string ; oboInOwl:hasExactSynonym "Anomaly, Rieger's"@en, "Axenfeld syndrome"@en, "RGS - Rieger syndrome"@en, "Rieger's anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hagedoom syndrome"@en ; oboInOwl:id "DOID:14686"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Axenfeld-Rieger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_14687 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasDbXref "GARD:6275"^^xsd:string, "ICD10CM:Q77.5"^^xsd:string, "MESH:C536170"^^xsd:string, "NCI:C156311"^^xsd:string, "OMIM:222600"^^xsd:string, "SNOMEDCT_US_2021_03_01:58561002"^^xsd:string, "UMLS_CUI:C0220726"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14687"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "diastrophic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_1469 oboInOwl:hasExactSynonym "Major depressive disorder, single episode in full remission"@en, "Single major depressive episode, in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single major depressive episode in full remission"^^xsd:string ; owl:deprecated true . obo:DOID_14692 oboInOwl:hasAlternativeId "DOID:4366"^^xsd:string ; oboInOwl:hasDbXref "GARD:5683"^^xsd:string, "ICD10CM:E78.72"^^xsd:string, "MESH:D019082"^^xsd:string, "NCI:C85071"^^xsd:string, "OMIM:270400"^^xsd:string, "SNOMEDCT_US_2021_03_01:43929004"^^xsd:string, "UMLS_CUI:C0175694"^^xsd:string ; oboInOwl:hasExactSynonym "Rutledge lethal multiple congenital anomaly syndrome"@en, "Smith-Opitz-Inborn syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14692"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Smith-Lemli-Opitz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_14693 oboInOwl:hasDbXref "GARD:2056"^^xsd:string, "MESH:D004476"^^xsd:string, "OMIM:129500"^^xsd:string, "SNOMEDCT_US_2021_03_01:54209007"^^xsd:string, "UMLS_CUI:C0162361"^^xsd:string ; oboInOwl:hasExactSynonym "Clouston's hidrotic ectodermal dysplasia"@en, "Clouston's syndrome"@en, "Hidrotic ectodermal dysplasia syndrome"@en, "ectodermal dysplasia 2, Clouston type"@en, "hidrotic ectodermal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14693"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Clouston syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14694 obo:IAO_0000115 "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner."^^xsd:string ; oboInOwl:hasDbXref "GARD:80"^^xsd:string, "MESH:C535880"^^xsd:string, "OMIM:243800"^^xsd:string, "ORDO:2315"^^xsd:string, "SNOMEDCT_US_2021_03_01:75979009"^^xsd:string, "UMLS_CUI:C0175692"^^xsd:string ; oboInOwl:hasExactSynonym "JBS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14694"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Johanson-Blizzard syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14695 obo:IAO_0000115 "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase."^^xsd:string ; oboInOwl:hasDbXref "GARD:2422"^^xsd:string, "ICD10CM:E74.29"^^xsd:string, "MESH:D005693"^^xsd:string, "NCI:C114767"^^xsd:string, "OMIM:230200"^^xsd:string, "SNOMEDCT_US_2021_03_01:124302001"^^xsd:string, "UMLS_CUI:C0268155"^^xsd:string ; oboInOwl:hasExactSynonym "Galactosemia II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14695"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "galactokinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9870 . obo:DOID_14699 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "MESH:C536940"^^xsd:string, "NCI:C99038"^^xsd:string, "OMIM:274000"^^xsd:string, "ORDO:3320"^^xsd:string, "SNOMEDCT_US_2021_03_01:85589009"^^xsd:string, "UMLS_CUI:C0175703"^^xsd:string ; oboInOwl:hasExactSynonym "Radial aplasia-thrombocytopenia syndrome"@en, "Thrombocytopenia with absent radii (TAR) syndrome"@en, "chromosome 1q21.1 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thrombocytopenia-absent radius syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060388, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] . obo:DOID_1470 obo:IAO_0000115 "An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10614"^^xsd:string, "DOID:2240"^^xsd:string, "DOID:2241"^^xsd:string, "DOID:7580"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F32"^^xsd:string, "ICD10CM:F33.9"^^xsd:string, "ICD9CM:296.2"^^xsd:string, "ICD9CM:296.3"^^xsd:string, "NCI:C34796"^^xsd:string, "OMIM:608520"^^xsd:string, "OMIM:608691"^^xsd:string, "SNOMEDCT_US_2021_03_01:268621008"^^xsd:string, "SNOMEDCT_US_2021_03_01:36923009"^^xsd:string, "UMLS_CUI:C0024517"^^xsd:string, "UMLS_CUI:C0154409"^^xsd:string ; oboInOwl:hasExactSynonym "recurrent major depression"@en, "single major depressive episode"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1470"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "major depressive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1596 . obo:DOID_14701 obo:IAO_0000115 "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14706"^^xsd:string ; oboInOwl:hasDbXref "GARD:467"^^xsd:string, "ICD10CM:E71.121"^^xsd:string, "MESH:D056693"^^xsd:string, "NCI:C85030"^^xsd:string, "OMIM:606054"^^xsd:string, "SNOMEDCT_US_2021_03_01:69080001"^^xsd:string, "UMLS_CUI:C0268579"^^xsd:string, "UMLS_CUI:C2717876"^^xsd:string ; oboInOwl:hasExactSynonym "GLYCINEMIA, KETOTIC"@en, "KETOTIC HYPERGLYCINEMIA"@en, "ketotic II glycinemia"@en, "ketotic glycinemia"@en, "propionic aciduria"@en, "propionyl-CoA carboxylase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14701"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "propionic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159 . obo:DOID_14702 obo:IAO_0000115 "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:10147"^^xsd:string, "MEDDRA:10071135"^^xsd:string, "MESH:D019280"^^xsd:string, "NCI:C98983"^^xsd:string, "SNOMEDCT_US_2021_03_01:290006"^^xsd:string, "UMLS_CUI:C0265234"^^xsd:string ; oboInOwl:hasExactSynonym "Branchio-Oto-renal syndrome"@en, "Branchio-otorenal dysplasia"@en, "Melnick-Fraser syndrome"@en, "branchiootorenal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14702"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "branchiootorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14705 obo:IAO_0000115 "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."^^xsd:string ; oboInOwl:hasDbXref "GARD:7380"^^xsd:string, "MESH:D000168"^^xsd:string, "NCI:C99100"^^xsd:string, "OMIM:101600"^^xsd:string, "ORDO:710"^^xsd:string, "SNOMEDCT_US_2021_03_01:70410008"^^xsd:string, "UMLS_CUI:C0220658"^^xsd:string ; oboInOwl:hasExactSynonym "acrocephalosyndactylia type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Pfeiffer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14711 obo:IAO_0000115 "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern."^^xsd:string ; oboInOwl:hasDbXref "GARD:2317"^^xsd:string, "MESH:C537923"^^xsd:string, "OMIM:300321"^^xsd:string, "OMIM:300406"^^xsd:string, "OMIM:300422"^^xsd:string, "OMIM:300581"^^xsd:string, "OMIM:305450"^^xsd:string, "ORDO:323"^^xsd:string, "ORDO:93932"^^xsd:string, "SNOMEDCT_US_2021_03_01:49984004"^^xsd:string, "UMLS_CUI:C0220769"^^xsd:string ; oboInOwl:hasExactSynonym "Keller syndrome"@en, "Opitz-Kaveggia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14711"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "FG syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_14717 obo:IAO_0000115 "A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery."^^xsd:string ; oboInOwl:hasDbXref "GARD:101"^^xsd:string, "ICD10CM:G71.22"^^xsd:string, "MESH:D020914"^^xsd:string, "NCI:C84648"^^xsd:string, "ORDO:595"^^xsd:string, "ORDO:596"^^xsd:string, "ORDO:69186"^^xsd:string, "ORDO:69189"^^xsd:string, "SNOMEDCT_US_2021_03_01:193223007"^^xsd:string, "UMLS_CUI:C0175709"^^xsd:string ; oboInOwl:hasExactSynonym "myotubular myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14717"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "centronuclear myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_423 . obo:DOID_14720 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536194"^^xsd:string, "NCI:C125696"^^xsd:string, "OMIM:130000"^^xsd:string, "SNOMEDCT_US_2021_03_01:83470009"^^xsd:string, "UMLS_CUI:C0268335"^^xsd:string ; oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, type 1"@en, "type I Ehlers-Danlos syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14720"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Ehlers-Danlos syndrome classic type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14723 obo:IAO_0000115 "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones."^^xsd:string ; oboInOwl:hasDbXref "GARD:872"^^xsd:string, "MESH:C535818"^^xsd:string, "OMIM:203750"^^xsd:string, "ORDO:134"^^xsd:string, "SNOMEDCT_US_2021_03_01:238067002"^^xsd:string, "UMLS_CUI:C1533628"^^xsd:string ; oboInOwl:hasExactSynonym "2-methyl-3-hydroxybutyricacidemia"@en, "3-ketothiolase deficiency"@en, "3-oxothiolase deficiency"@en, "Mitochondrial acetoacetyl-CoA Thiolase deficiency"@en, "alpha-methylacetoaceticaciduria"@en, "peroxisomal thiolase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14723"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "beta-ketothiolase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14725 obo:IAO_0000115 "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537323"^^xsd:string, "OMIM:156580"^^xsd:string, "UMLS_CUI:C0220693"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14725"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autosomal dominant microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10907, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14727 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14727"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dominant cogenital severe sensorineural deafness"^^xsd:string ; owl:deprecated true . obo:DOID_14731 obo:IAO_0000115 "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:5545"^^xsd:string, "GARD:7878"^^xsd:string, "MESH:C562443"^^xsd:string, "OMIM:277590"^^xsd:string, "UMLS_CUI:C0220765"^^xsd:string ; oboInOwl:hasExactSynonym "WEAVER-LIKE SYNDROME"@en, "Weaver-Williams syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14731"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Weaver syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14735 obo:IAO_0000115 "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5979"^^xsd:string, "MESH:D054179"^^xsd:string, "NCI:C84758"^^xsd:string, "SNOMEDCT_US_2021_03_01:82966003"^^xsd:string, "UMLS_CUI:C0019243"^^xsd:string ; oboInOwl:hasExactSynonym "HANE"@en, "Hereditary angioedema"@en, "Hereditary angioneurotic edema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14735"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hereditary angioedema"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:D054179"^^xsd:string . obo:DOID_14737 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton."^^xsd:string ; oboInOwl:hasDbXref "GARD:1578"^^xsd:string, "MESH:C536456"^^xsd:string, "OMIM:304110"^^xsd:string, "ORDO:1520"^^xsd:string, "SNOMEDCT_US_2021_03_01:715421009"^^xsd:string, "UMLS_CUI:C0220767"^^xsd:string ; oboInOwl:hasExactSynonym "CFND"@en, "CFNS"@en, "craniofrontonasal dysostosis"@en, "craniofrontonasal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14737"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "craniofrontonasal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_14739 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14739"^^xsd:string ; a owl:Class ; rdfs:label "obsolete progressive high-tone neural deafness"^^xsd:string ; owl:deprecated true . obo:DOID_1474 obo:IAO_0000115 "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K05.2"^^xsd:string, "MESH:D010520"^^xsd:string, "OMIM:170650"^^xsd:string, "OMIM:608526"^^xsd:string, "SNOMEDCT_US_2021_03_01:449908004"^^xsd:string, "UMLS_CUI:C0031106"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile periodontitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1474"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aggressive periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_824 ; skos:exactMatch "MESH:D010520"^^xsd:string . obo:DOID_14743 obo:IAO_0000115 "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050552"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536820"^^xsd:string, "NCI:C75109"^^xsd:string, "OMIM:190350"^^xsd:string, "SNOMEDCT_US_2021_03_01:239016009"^^xsd:string, "UMLS_CUI:C0432233"^^xsd:string ; oboInOwl:hasExactSynonym "trichorhinophalangeal syndrome type 1"@en, "type I trichorhinophalangeal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Trichorhinophalangeal dysplasia type I"@en ; oboInOwl:id "DOID:14743"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "trichorhinophalangeal syndrome type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14744 obo:IAO_0000115 "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria."^^xsd:string ; oboInOwl:hasDbXref "GARD:4235"^^xsd:string, "MESH:C562446"^^xsd:string, "OMIM:309510"^^xsd:string, "ORDO:94083"^^xsd:string, "UMLS_CUI:C0220775"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked Russell-Silver syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14744"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "Partington syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_14748 obo:IAO_0000115 "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:10091"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "MESH:D058495"^^xsd:string, "NCI:C75019"^^xsd:string, "OMIM:PS117550"^^xsd:string, "ORDO:821"^^xsd:string, "SNOMEDCT_US_2021_03_01:75968004"^^xsd:string, "UMLS_CUI:C0175695"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14748"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Sotos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_14749 obo:IAO_0000115 "An organic acidemia that involves an accumulation of methylmalonic acid in the blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14782"^^xsd:string, "DOID:14802"^^xsd:string ; oboInOwl:hasDbXref "GARD:7033"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14749"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "methylmalonic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159 . obo:DOID_1475 obo:IAO_0000115 "A benign vascular tumor that is composed of dilated lymphatic channels."^^xsd:string ; oboInOwl:hasDbXref "GARD:9789"^^xsd:string, "ICD10CM:D18.1"^^xsd:string, "ICD9CM:228.1"^^xsd:string, "MESH:D008202"^^xsd:string, "NCI:C8965"^^xsd:string, "SNOMEDCT_US_2021_03_01:154625006"^^xsd:string, "UMLS_CUI:C0024221"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital lymphangioma"@en, "benign lymphangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1475"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_60006 . obo:DOID_14753 obo:IAO_0000115 "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine."^^xsd:string ; oboInOwl:hasDbXref "GARD:465"^^xsd:string, "ICD10CM:E71.110"^^xsd:string, "MESH:C538167"^^xsd:string, "NCI:C98964"^^xsd:string, "OMIM:243500"^^xsd:string, "SNOMEDCT_US_2021_03_01:87827003"^^xsd:string, "UMLS_CUI:C0268575"^^xsd:string ; oboInOwl:hasExactSynonym "Isovaleryl-CoA dehydrogenase deficiency"@en, "isovaleric acid CoA dehydrogenase deficiency"@en, "isovaleric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14753"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "isovaleric acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159 . obo:DOID_14755 obo:IAO_0000115 "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine."^^xsd:string ; oboInOwl:hasDbXref "GARD:5843"^^xsd:string, "MESH:D056807"^^xsd:string, "NCI:C84569"^^xsd:string, "OMIM:207900"^^xsd:string, "SNOMEDCT_US_2021_03_01:41013004"^^xsd:string, "UMLS_CUI:C0268547"^^xsd:string ; oboInOwl:hasExactSynonym "Argininosuccinate lyase deficiency"@en, "argininosuccinic acidemia"@en, "arginosuccinase deficiency"@en, "deficiency of argininosuccinate lyase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14755"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "argininosuccinic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_14756 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."^^xsd:string ; oboInOwl:hasDbXref "GARD:2082"^^xsd:string, "NCI:C125699"^^xsd:string, "OMIM:130050"^^xsd:string, "ORDO:286"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant type IV Ehlers-Danlos syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14756"^^xsd:string ; a owl:Class ; rdfs:label "vascular type Ehlers-Danlos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14757 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity."^^xsd:string ; oboInOwl:hasDbXref "GARD:2081"^^xsd:string, "ICD10CM:Q79.62"^^xsd:string, "MESH:C536196"^^xsd:string, "NCI:C125698"^^xsd:string, "OMIM:130020"^^xsd:string, "SNOMEDCT_US_2021_03_01:30652003"^^xsd:string, "UMLS_CUI:C0268337"^^xsd:string ; oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, type 3"@en, "type III Ehlers-Danlos syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Ehlers-Danlos syndrome hypermobility type"^^xsd:string ; rdfs:subClassOf obo:DOID_13359 . obo:DOID_14759 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:70610001"^^xsd:string, "UMLS_CUI:C0268340"^^xsd:string ; oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, recessive type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14759"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive type IV Ehlers-Danlos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14761 obo:IAO_0000115 "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9251"^^xsd:string ; oboInOwl:hasDbXref "GARD:6550"^^xsd:string, "MESH:C537300"^^xsd:string, "NCI:C35255"^^xsd:string, "OMIM:175700"^^xsd:string, "SNOMEDCT_US_2021_03_01:32985001"^^xsd:string, "UMLS_CUI:C0265306"^^xsd:string ; oboInOwl:hasExactSynonym "polysyndactyly with peculiars skull shape"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14761"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Greig cephalopolysyndactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14762 obo:IAO_0000115 "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet."^^xsd:string ; oboInOwl:hasDbXref "OMIM:186400"^^xsd:string, "SNOMEDCT_US_2021_03_01:62628008"^^xsd:string, "UMLS_CUI:C0175700"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple synostosis syndrome"@en, "SYNOSTOSES, TARSAL, CARPAL AND DIGITAL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14762"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "calcaneonavicular coalition"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_14764 obo:IAO_0000115 "Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:6860"^^xsd:string, "OMIM:150250"^^xsd:string ; oboInOwl:hasExactSynonym "dominant larsen syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14764"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Larsen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14766 obo:IAO_0000115 "A renal disease that is characterized by the failure of one or both kidneys to develop."^^xsd:string ; oboInOwl:hasDbXref "GARD:9228"^^xsd:string, "OMIM:191830"^^xsd:string, "ORDO:93108"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary renal aplasia"@en, "hereditary urogenital adysplasia"@en, "renal adysplasia"@en, "renal aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14766"^^xsd:string ; a owl:Class ; rdfs:label "renal agenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_14768 obo:IAO_0000115 "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull."^^xsd:string ; oboInOwl:hasDbXref "GARD:7598"^^xsd:string, "MESH:D000168"^^xsd:string, "NCI:C75034"^^xsd:string, "OMIM:101400"^^xsd:string, "OMIM:180750"^^xsd:string, "ORDO:794"^^xsd:string, "SNOMEDCT_US_2021_03_01:390726000"^^xsd:string, "UMLS_CUI:C0175699"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acrocephalosyndactyly type III"@en ; oboInOwl:id "DOID:14768"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Saethre-Chotzen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14773 obo:IAO_0000115 "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080022"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535916"^^xsd:string, "NCI:C61245"^^xsd:string, "OMIM:250250"^^xsd:string, "SNOMEDCT_US_2021_03_01:234421004"^^xsd:string, "UMLS_CUI:C0220748"^^xsd:string ; oboInOwl:hasExactSynonym "CHH"@en, "McKusick type metaphyseal chondrodysplasia"@en, "Metaphyseal chondrodysplasia, McKusick type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14773"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cartilage-hair hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_14775 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:1019"^^xsd:string, "MESH:C536198"^^xsd:string, "NCI:C125700"^^xsd:string, "OMIM:229200"^^xsd:string, "SNOMEDCT_US_2021_03_01:25606004"^^xsd:string, "UMLS_CUI:C0268342"^^xsd:string ; oboInOwl:hasExactSynonym "type VIB Ehlers-Danlos syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14775"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "brittle cornea syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10124, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] . obo:DOID_14777 oboInOwl:hasDbXref "GARD:2159"^^xsd:string, "MESH:D020936"^^xsd:string, "ORDO:1949"^^xsd:string, "SNOMEDCT_US_2021_03_01:279953009"^^xsd:string, "UMLS_CUI:C0220669"^^xsd:string ; oboInOwl:hasExactSynonym "familial neonatal seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14777"^^xsd:string ; a owl:Class ; rdfs:label "benign familial neonatal epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050702 . obo:DOID_14778 obo:IAO_0000115 "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562419"^^xsd:string, "OMIM:110100"^^xsd:string, "SNOMEDCT_US_2021_03_01:79833006"^^xsd:string, "UMLS_CUI:C0220663"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Blepharophimosis, ptosis, epicanthus inversus syndrome"@en ; oboInOwl:id "DOID:14778"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blepharophimosis, ptosis, and epicanthus inversus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_14780 obo:IAO_0000115 "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton."^^xsd:string ; oboInOwl:hasDbXref "GARD:82"^^xsd:string, "MESH:C537015"^^xsd:string, "OMIM:148050"^^xsd:string, "ORDO:2332"^^xsd:string, "SNOMEDCT_US_2021_03_01:711156009"^^xsd:string, "UMLS_CUI:C0220687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14780"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "KBG syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_14784 obo:IAO_0000115 "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12708"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009849"^^xsd:string, "NCI:C84947"^^xsd:string, "SNOMEDCT_US_2021_03_01:67761004"^^xsd:string, "UMLS_CUI:C0028968"^^xsd:string ; oboInOwl:hasExactSynonym "Dejerine-Thomas syndrome"@en, "Thomas' syndrome"@en, "WADIA-SWAMI SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14784"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "olivopontocerebellar atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_14787 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14787"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete Fryns syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_14789 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080025"^^xsd:string ; oboInOwl:hasDbXref "GARD:4987"^^xsd:string, "OMIM:183900"^^xsd:string ; oboInOwl:hasExactSynonym "Late Spondyloepiphyseal Dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14789"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "spondyloepiphyseal dysplasia congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_14791 obo:IAO_0000115 "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness."^^xsd:string ; oboInOwl:hasDbXref "GARD:634"^^xsd:string, "MESH:D057130"^^xsd:string, "NCI:C129075"^^xsd:string, "OMIM:PS204000"^^xsd:string, "ORDO:65"^^xsd:string, "SNOMEDCT_US_2021_03_01:193413001"^^xsd:string, "UMLS_CUI:C0339527"^^xsd:string ; oboInOwl:hasExactSynonym "LCA"@en, "Leber's amaurosis"@en, "Leber's congenital amaurosis"@en, "Leber's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14791"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Leber congenital amaurosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_14793 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050446"^^xsd:string, "DOID:0050447"^^xsd:string ; oboInOwl:hasDbXref "GARD:76"^^xsd:string, "MESH:D053358"^^xsd:string, "NCI:C84562"^^xsd:string, "OMIM:129490"^^xsd:string, "OMIM:224900"^^xsd:string, "OMIM:300291"^^xsd:string, "OMIM:305100"^^xsd:string, "ORDO:238468"^^xsd:string, "SNOMEDCT_US_2021_03_01:239007005"^^xsd:string, "UMLS_CUI:C0162359"^^xsd:string ; oboInOwl:hasExactSynonym "Christ-Siemens-Touraine Syndrome"@en, "Ectodermal Dysplasia 1, Anhydrotic"@en, "Hypohidrotic X-linked ectodermal dysplasia"@en, "anhidrotic ectodermal dysplasia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14793"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hypohidrotic ectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_14796 obo:IAO_0000115 "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids."^^xsd:string ; oboInOwl:hasDbXref "GARD:6290"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MEDDRA:10059589"^^xsd:string, "MESH:C535718"^^xsd:string, "NCI:C125591"^^xsd:string, "OMIM:223370"^^xsd:string, "SNOMEDCT_US_2021_03_01:2593002"^^xsd:string, "UMLS_CUI:C0175691"^^xsd:string ; oboInOwl:hasExactSynonym "Dubowitz's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14796"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Dubowitz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000278 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001510 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_14798 obo:IAO_0000115 "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally."^^xsd:string ; oboInOwl:hasDbXref "GARD:916"^^xsd:string, "OMIM:188700"^^xsd:string, "OMIM:259200"^^xsd:string, "SNOMEDCT_US_2021_03_01:880067009"^^xsd:string, "UMLS_CUI:C0220757"^^xsd:string ; oboInOwl:hasExactSynonym "Blount disease"@en, "familial infantile type osteochondrosis deformans tibiae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:14798"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Blount's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_1483 obo:IAO_0000115 "A periodontal disease that is located_in the gums."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005882"^^xsd:string, "NCI:C173795"^^xsd:string, "SNOMEDCT_US_2021_03_01:18718003"^^xsd:string, "UMLS_CUI:C0017563"^^xsd:string ; oboInOwl:hasExactSynonym "gum disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1483"^^xsd:string ; a owl:Class ; rdfs:label "gingival disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3388, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001828 ] . obo:DOID_1485 obo:IAO_0000115 "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12447"^^xsd:string, "DOID:13383"^^xsd:string, "DOID:14395"^^xsd:string, "DOID:1484"^^xsd:string ; oboInOwl:hasDbXref "GARD:6233"^^xsd:string, "ICD10CM:E84"^^xsd:string, "ICD9CM:277.0"^^xsd:string, "MESH:D003550"^^xsd:string, "NCI:C2975"^^xsd:string, "OMIM:219700"^^xsd:string, "ORDO:586"^^xsd:string, "SNOMEDCT_US_2021_03_01:85809002"^^xsd:string, "UMLS_CUI:C0010674"^^xsd:string ; oboInOwl:hasExactSynonym "CF"@en, "mucoviscidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1485"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cystic fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onClass [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 [ a owl:Restriction ; owl:onClass obo:SO_0000704 ; owl:onProperty obo:RO_0004026 ; owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ] ) ] ; owl:onProperty obo:IDO_0000664 ; owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ] ; skos:exactMatch "MESH:D003550"^^xsd:string . obo:DOID_1486 oboInOwl:hasExactSynonym "Syphilitic chorioretinitis (secondary)"@en, "secondary syphilitic chorioretinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1486"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic chorioretinitis"^^xsd:string ; owl:deprecated true . obo:DOID_1487 oboInOwl:hasExactSynonym "Syphilitic uveitis unspecified (disorder)"@en, "Syphilitic uveitis, unspecified"@en, "Uveitis due to secondary syphilis"@en, "Uveitis due to secondary syphilis (disorder)"@en, "secondary syphilitic uveitis (disorder)"@en, "secondary syphilitic uveitis NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1487"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic uveitis"^^xsd:string ; owl:deprecated true . obo:DOID_1491 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1491"^^xsd:string ; a owl:Class ; rdfs:label "obsolete corneal anesthesia and hypoesthesia"^^xsd:string ; owl:deprecated true . obo:DOID_1492 obo:IAO_0000115 "A sensory system disease that is located_in the eye or the adnexa of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.00"^^xsd:string, "ICD9CM:362.10"^^xsd:string, "UMLS_CUI:C0004608"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1492"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eye and adnexa disease"^^xsd:string ; owl:deprecated true . obo:DOID_1495 obo:IAO_0000115 "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13256"^^xsd:string, "DOID:13708"^^xsd:string, "DOID:14154"^^xsd:string, "DOID:1493"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B67.4"^^xsd:string, "ICD9CM:122.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:75006000"^^xsd:string, "UMLS_CUI:C0152068"^^xsd:string ; oboInOwl:hasExactSynonym "Echinococcus granulosus infection"@en, "Echinococcus granulosus infection of lung"@en, "Echinococcus granulosus infection of thyroid"@en, "Echinococcus granulosus infectious disease of liver"@en, "Liver echinococcus granulosus"@en, "Thyroid echinococcus granulosus"@en, "echinococcus granulosus"@en, "echinococcus granulosus infectious disease"@en, "echinococcus granulosus infectious disease of liver"@en, "echinococcus granulosus infectious disease of thyroid"@en, "lung echinococcus granulosus"@en, "unilocular echinococcosis"@en, "unilocular hydatid disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1495"^^xsd:string ; a owl:Class ; rdfs:label "cystic echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, obo:DOID_114, obo:DOID_1496, obo:DOID_409, obo:DOID_850, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000434 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000517 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000798 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000895 ] . obo:DOID_1496 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12149"^^xsd:string, "DOID:2783"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B67"^^xsd:string, "ICD9CM:122"^^xsd:string, "MESH:D004443"^^xsd:string, "NCI:C84682"^^xsd:string, "SNOMEDCT_US_2021_03_01:154414008"^^xsd:string, "UMLS_CUI:C0013502"^^xsd:string ; oboInOwl:hasExactSynonym "Echinococcosis of liver"@en, "echinococcal disease"@en, "hepatic echinococcosis"@en, "hydatid disease"@en, "hydatidosis"@en, "liver echinococcus"@en, "pulmonary echinococcosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1496"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6209 ] . obo:DOID_1498 obo:IAO_0000115 "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock."^^xsd:string ; oboInOwl:hasDbXref "GARD:6043"^^xsd:string, "ICD10CM:A00"^^xsd:string, "ICD9CM:001"^^xsd:string, "MESH:D002771"^^xsd:string, "SNOMEDCT_US_2021_03_01:186087007"^^xsd:string, "UMLS_CUI:C0008354"^^xsd:string ; oboInOwl:hasExactSynonym "Cholera"@en, "Cholera - Vibrio cholerae"@en, "Cholera due to Vibrio cholerae"@en, "Vibrio cholerae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1498"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:GOLD, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "cholera"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_666 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; skos:exactMatch "MESH:D002771"^^xsd:string . obo:DOID_1499 oboInOwl:hasExactSynonym "Infection due to non-cholerae vibrio"@en, "vibriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1499"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_15 obo:IAO_0000115 "A disease of anatomical entity that is located_in reproductive system organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6309"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27613"^^xsd:string, "UMLS_CUI:C1335037"^^xsd:string ; oboInOwl:hasExactSynonym "genital system disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:15"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "reproductive system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000990 ] ) ] . obo:DOID_150 obo:IAO_0000115 "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F99"^^xsd:string, "MESH:D001523"^^xsd:string, "NCI:C2893"^^xsd:string, "SNOMEDCT_US_2021_03_01:74732009"^^xsd:string, "UMLS_CUI:C0004936"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:150"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "disease of mental health"^^xsd:string ; rdfs:subClassOf obo:DOID_4 . obo:DOID_1508 obo:IAO_0000115 "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1507"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B37"^^xsd:string, "ICD9CM:112"^^xsd:string, "MESH:D002177"^^xsd:string, "NCI:C26711"^^xsd:string, "SNOMEDCT_US_2021_03_01:154403005"^^xsd:string, "UMLS_CUI:C0006840"^^xsd:string ; oboInOwl:hasExactSynonym "Disseminated candidiasis"@en, "systemic candidiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1508"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1535326 ] . obo:DOID_1509 obo:IAO_0000115 "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.6"^^xsd:string, "ICD9CM:301.82"^^xsd:string, "MESH:D010554"^^xsd:string, "NCI:C92636"^^xsd:string, "SNOMEDCT_US_2021_03_01:191771004"^^xsd:string, "UMLS_CUI:C0004444"^^xsd:string ; oboInOwl:hasExactSynonym "anxious personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1509"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "avoidant personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_1510 obo:IAO_0000115 "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:301.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:191770003"^^xsd:string, "UMLS_CUI:C0029707"^^xsd:string ; oboInOwl:hasExactSynonym "character disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1510"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_1511 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1511"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1512 obo:IAO_0000115 "A chronic cervicitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:76802005"^^xsd:string, "UMLS_CUI:C0153206"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal cervicitis, chronic"@en, "chronic gonococcal cervicitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1512"^^xsd:string ; a owl:Class ; rdfs:label "chronic gonorrhea of cervix"^^xsd:string ; rdfs:subClassOf obo:DOID_1513 . obo:DOID_1513 obo:IAO_0000115 "A cervicitis that is present for weeks or more."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27057"^^xsd:string, "SNOMEDCT_US_2021_03_01:198210003"^^xsd:string, "UMLS_CUI:C0269062"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1513"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2568 . obo:DOID_1515 oboInOwl:hasExactSynonym "Syphilitic endocarditis of mitral valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1515"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete mitral valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_1516 oboInOwl:hasExactSynonym "Syphilitic endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1516"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_1517 obo:IAO_0000115 "An intestinal benign neoplasm that is located_in the cecum."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002430"^^xsd:string, "NCI:C4433"^^xsd:string, "SNOMEDCT_US_2021_03_01:126839008"^^xsd:string, "UMLS_CUI:C0007528"^^xsd:string ; oboInOwl:hasExactSynonym "cecum neoplasm"@en, "neoplasm of caecum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1517"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cecal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1518, obo:DOID_4610 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001153 ] ) ] . obo:DOID_1518 obo:IAO_0000115 "An intestinal disease located_in the cecum."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002429"^^xsd:string, "SNOMEDCT_US_2021_03_01:128525008"^^xsd:string, "UMLS_CUI:C0007527"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of cecum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1518"^^xsd:string ; a owl:Class ; rdfs:label "cecal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001153 ] ) ] . obo:DOID_1519 obo:IAO_0000115 "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3491"^^xsd:string, "SNOMEDCT_US_2021_03_01:269538009"^^xsd:string, "UMLS_CUI:C0149640"^^xsd:string ; oboInOwl:hasExactSynonym "Caecum carcinoma"@en, "Cecal cancer"@en, "carcinoma of cecum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1519"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cecum carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1521, obo:DOID_305, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_1520 obo:IAO_0000115 "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4910"^^xsd:string, "SNOMEDCT_US_2021_03_01:154454005"^^xsd:string, "UMLS_CUI:C0699790"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic carcinoma"@en, "carcinoma of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1520"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "colon carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_219, obo:DOID_305, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_1521 obo:IAO_0000115 "A large intestine cancer that is located_in the cecum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18.0"^^xsd:string, "ICD9CM:153.4"^^xsd:string, "MESH:D002430"^^xsd:string, "NCI:C9329"^^xsd:string, "SNOMEDCT_US_2021_03_01:93736007"^^xsd:string, "UMLS_CUI:C0153437"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of caecum"@en, "malignant tumor of the cecum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cecum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1518, obo:DOID_5672 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001153 ] ) ] . obo:DOID_1522 oboInOwl:hasDbXref "NCI:C5515"^^xsd:string, "UMLS_CUI:C1332867"^^xsd:string ; oboInOwl:hasExactSynonym "Cecal Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cecum lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1521, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1523 oboInOwl:hasDbXref "NCI:C4793"^^xsd:string, "SNOMEDCT_US_2021_03_01:133751000119102"^^xsd:string, "UMLS_CUI:C0519037"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1523"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_219, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1525 oboInOwl:hasDbXref "ICD10CM:M35.6"^^xsd:string, "MESH:D010201"^^xsd:string, "SNOMEDCT_US_2021_03_01:203120002"^^xsd:string, "UMLS_CUI:C0030328"^^xsd:string ; oboInOwl:hasExactSynonym "Relapsing febrile nodular nonsuppurative panniculitis"@en, "Weber - Christian disease"@en, "Weber-Christian disease"@en, "nodular non-suppurative febrile panniculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1525"^^xsd:string ; a owl:Class ; rdfs:label "nodular nonsuppurative panniculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1526 . obo:DOID_1526 obo:IAO_0000115 "A skin disease that is characterized by inflammation of subcutaneous adipose tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M79.3"^^xsd:string, "ICD9CM:729.30"^^xsd:string, "MESH:D015434"^^xsd:string, "NCI:C112112"^^xsd:string, "SNOMEDCT_US_2021_03_01:268122002"^^xsd:string, "UMLS_CUI:C0030326"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1526"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "panniculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_1528 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1528"^^xsd:string ; a owl:Class ; rdfs:label "obsolete penile non-neoplastic disease"^^xsd:string ; owl:deprecated true . obo:DOID_1529 oboInOwl:hasDbXref "ICD10CM:N48.8"^^xsd:string, "ICD9CM:607.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:198558008"^^xsd:string, "UMLS_CUI:C0029785"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1529"^^xsd:string ; a owl:Class ; rdfs:label "penile disease"^^xsd:string ; rdfs:subClassOf obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_153 obo:IAO_0000115 "A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue."^^xsd:string ; oboInOwl:hasExactSynonym "Fibroepithelial neoplasm (morphologic abnormality)"@en, "Fibroepithelial neoplasm NOS (morphologic abnormality)"@en, "Fibroepithelial tumor"@en, "Fibroepithelial tumor (qualifier value)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:153"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fibroepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1530 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1530"^^xsd:string ; a owl:Class ; rdfs:label "obsolete male non-neoplastic reproductive system disease"^^xsd:string ; owl:deprecated true . obo:DOID_1532 obo:IAO_0000115 "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1531"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010995"^^xsd:string, "NCI:C26859"^^xsd:string, "SNOMEDCT_US_2021_03_01:88075009"^^xsd:string, "UMLS_CUI:C0032226"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of pleura"@en, "non-neoplastic pleural disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1532"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleural disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050161, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] ) ] . obo:DOID_154 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1905"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018198"^^xsd:string, "NCI:C3729"^^xsd:string, "NCI:C6930"^^xsd:string, "SNOMEDCT_US_2021_03_01:8145008"^^xsd:string, "UMLS_CUI:C0206625"^^xsd:string, "UMLS_CUI:C1368354"^^xsd:string ; oboInOwl:hasExactSynonym "malignant mixed cancer"@en, "malignant mixed neoplasm"@en, "mixed tumor"@en, "mixed tumor, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "malignant mixed tumor"@en, "mixed neoplasm"@en ; oboInOwl:id "DOID:154"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed cell type cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf ([ a owl:Class ; owl:intersectionOf (obo:UBERON_0000924 obo:UBERON_0000925 ) ] [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000924 obo:UBERON_0000925 obo:UBERON_0000926 ) ] [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000924 obo:UBERON_0000926 ) ] [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000925 obo:UBERON_0000926 ) ] ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:unionOf ([ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000221 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000222 ] ) ] [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000221 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000223 ] ) ] [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000222 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000223 ] ) ] ) ] ) ] . obo:DOID_1540 obo:IAO_0000115 "An endocrine gland cancer located_in the parathyroid glands located in the neck."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11006"^^xsd:string, "DOID:1541"^^xsd:string ; oboInOwl:hasDbXref "GARD:7329"^^xsd:string, "ICD10CM:C75.0"^^xsd:string, "ICD9CM:194.1"^^xsd:string, "MESH:D010282"^^xsd:string, "NCI:C3313"^^xsd:string, "NCI:C4906"^^xsd:string, "NCI:C9322"^^xsd:string, "OMIM:608266"^^xsd:string, "SNOMEDCT_US_2021_03_01:127020005"^^xsd:string, "SNOMEDCT_US_2021_03_01:363481002"^^xsd:string, "UMLS_CUI:C0030521"^^xsd:string, "UMLS_CUI:C0153653"^^xsd:string, "UMLS_CUI:C0687150"^^xsd:string ; oboInOwl:hasExactSynonym "Parathyroid gland neoplasm"@en, "carcinoma of Parathyroid gland"@en, "malignant neoplasm of parathyroid gland"@en, "malignant neoplasm of the Parathyroid"@en, "malignant tumor of parathyroid gland"@en, "neoplasm of parathyroid gland"@en, "parathyroid gland cancer"@en, "parathyroid neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "parathyroid gland adenocarcinoma"@en ; oboInOwl:id "DOID:1540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "parathyroid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11201, obo:DOID_170, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001132 ] . obo:DOID_1542 obo:IAO_0000115 "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6077"^^xsd:string, "UMLS_CUI:C1334927"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of neck"@en ; oboInOwl:id "DOID:1542"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "head and neck carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11934, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_1543 oboInOwl:hasExactSynonym "metastatic tumor of Parathyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1543"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm of parathyroid"^^xsd:string ; owl:deprecated true . obo:DOID_155 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:155"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glandular and epithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1550 oboInOwl:hasAlternativeId "DOID:1549"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder)"@en, "Diabetes mellitus, postpartum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1550"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_1554 obo:IAO_0000115 "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9806"^^xsd:string, "ICD10CM:L50.4"^^xsd:string, "ICD9CM:708.4"^^xsd:string, "OMIM:125630"^^xsd:string, "SNOMEDCT_US_2021_03_01:51247001"^^xsd:string, "UMLS_CUI:C0157743"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1554"^^xsd:string ; a owl:Class ; rdfs:label "vibratory urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_0060220 . obo:DOID_1555 obo:IAO_0000115 "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:708.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:267817001"^^xsd:string, "UMLS_CUI:C0029839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1555"^^xsd:string ; a owl:Class ; rdfs:label "urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_1556 obo:IAO_0000115 "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:T78.41"^^xsd:string, "ICD9CM:995.21"^^xsd:string, "MESH:D001183"^^xsd:string, "NCI:C34400"^^xsd:string, "SNOMEDCT_US_2021_03_01:402413008"^^xsd:string, "UMLS_CUI:C0003907"^^xsd:string ; oboInOwl:hasExactSynonym "Arthus Phenomenon"@en, "Arthus phenomenon"@en, "Arthus reaction"@en, "Arthus type urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1556"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arthus reaction"^^xsd:string ; rdfs:subClassOf obo:DOID_1557, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_1557 obo:IAO_0000115 "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007105"^^xsd:string, "UMLS_CUI:C0020951"^^xsd:string ; oboInOwl:hasExactSynonym "immune complex disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1557"^^xsd:string ; a owl:Class ; rdfs:label "hypersensitivity reaction type III disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060056 . obo:DOID_1558 obo:IAO_0000115 "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:T78.3"^^xsd:string, "MESH:D000799"^^xsd:string, "NCI:C112175"^^xsd:string, "SNOMEDCT_US_2021_03_01:41291007"^^xsd:string, "UMLS_CUI:C0002994"^^xsd:string ; oboInOwl:hasExactSynonym "Angioneurotic oedema"@en, "Quincke's edema"@en, "angioneurotic edema"@en, "giant urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1558"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angioedema"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_1561 obo:IAO_0000115 "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F09"^^xsd:string, "MESH:D019965"^^xsd:string, "NCI:C34870"^^xsd:string, "SNOMEDCT_US_2021_03_01:111479008"^^xsd:string, "UMLS_CUI:C0029227"^^xsd:string ; oboInOwl:hasExactSynonym "cognitive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Organic Mental disorder"@en ; oboInOwl:id "DOID:1561"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cognitive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_1562 obo:IAO_0000115 "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:1319"^^xsd:string, "ICD10CM:B43.9"^^xsd:string, "ICD9CM:117.2"^^xsd:string, "MESH:D002862"^^xsd:string, "SNOMEDCT_US_2021_03_01:187079000"^^xsd:string, "UMLS_CUI:C0008582"^^xsd:string ; oboInOwl:hasExactSynonym "Chromomycosis"@en, "Mossy foot disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1562"^^xsd:string ; a owl:Class ; rdfs:label "chromoblastomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050135 . obo:DOID_1563 obo:IAO_0000115 "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:111.9"^^xsd:string, "MESH:D003881"^^xsd:string, "SNOMEDCT_US_2021_03_01:47382004"^^xsd:string, "UMLS_CUI:C0011630"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1563"^^xsd:string ; a owl:Class ; rdfs:label "dermatomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050134, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_1564 obo:IAO_0000115 "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B49"^^xsd:string, "ICD9CM:110-118.99"^^xsd:string, "MESH:D009181"^^xsd:string, "NCI:C3245"^^xsd:string, "SNOMEDCT_US_2021_03_01:154393000"^^xsd:string, "UMLS_CUI:C0026946"^^xsd:string ; oboInOwl:hasExactSynonym "mycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mycoses"@en ; oboInOwl:id "DOID:1564"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fungal infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] ) ] . obo:DOID_1568 oboInOwl:hasAlternativeId "DOID:1567"^^xsd:string ; oboInOwl:hasExactSynonym "calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1568"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_1569 oboInOwl:hasDbXref "ICD9CM:374.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:45020000"^^xsd:string, "UMLS_CUI:C0155194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1569"^^xsd:string ; a owl:Class ; rdfs:label "mechanical ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_1570 . obo:DOID_157 obo:IAO_0000115 "A carcinoma that derives_from the cells that line an organ."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3806"^^xsd:string ; oboInOwl:hasExactSynonym "epithelial skin tumor"@en, "epithelial tumor (qualifier value)"@en, "skin Epithelium tumor"@en, "tumor of surface epithelium (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "epithelial neoplasm"@en ; oboInOwl:id "DOID:157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epithelial carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_1570 oboInOwl:hasDbXref "ICD10CM:H02.1"^^xsd:string, "ICD9CM:374.1"^^xsd:string, "MESH:D004483"^^xsd:string, "SNOMEDCT_US_2021_03_01:155178000"^^xsd:string, "UMLS_CUI:C0013592"^^xsd:string ; oboInOwl:hasExactSynonym "Ectropion of eyelid"@en, "Everted margin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1570"^^xsd:string ; a owl:Class ; rdfs:label "ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_1571 oboInOwl:hasDbXref "ICD9CM:374.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:80846000"^^xsd:string, "UMLS_CUI:C0155195"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1571"^^xsd:string ; a owl:Class ; rdfs:label "spastic ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_1570 . obo:DOID_1572 oboInOwl:hasDbXref "ICD10CM:G91.2"^^xsd:string, "MESH:D006850"^^xsd:string, "OMIM:236690"^^xsd:string, "SNOMEDCT_US_2021_03_01:30753002"^^xsd:string, "UMLS_CUI:C0020258"^^xsd:string ; oboInOwl:hasExactSynonym "Low pressure hydrocephalus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1572"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "normal pressure hydrocephalus"^^xsd:string ; rdfs:subClassOf obo:DOID_1573 . obo:DOID_1573 oboInOwl:hasDbXref "ICD10CM:G91.0"^^xsd:string, "ICD9CM:331.3"^^xsd:string, "MESH:D006849"^^xsd:string, "NCI:C34501"^^xsd:string, "SNOMEDCT_US_2021_03_01:59013007"^^xsd:string, "UMLS_CUI:C0009451"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "communicating hydrocephalus"^^xsd:string ; rdfs:subClassOf obo:DOID_10908 . obo:DOID_1574 obo:IAO_0000115 "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F10.1"^^xsd:string, "ICD9CM:305.0"^^xsd:string, "MESH:D000437"^^xsd:string, "NCI:C20701"^^xsd:string, "SNOMEDCT_US_2021_03_01:15167005"^^xsd:string, "UMLS_CUI:C0085762"^^xsd:string ; oboInOwl:hasExactSynonym "Ethanol abuse"@en, "alcohol abuse"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1574"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcohol use disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_1575 obo:IAO_0000115 "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1575"^^xsd:string ; a owl:Class ; rdfs:label "rheumatic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] . obo:DOID_1577 oboInOwl:hasDbXref "MESH:D045745"^^xsd:string, "SNOMEDCT_US_2021_03_01:128459005"^^xsd:string, "UMLS_CUI:C0748540"^^xsd:string ; oboInOwl:hasExactSynonym "Limited cutaneous systemic sclerosis"@en, "systemic sclerosis, limited"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1577"^^xsd:string ; a owl:Class ; rdfs:label "limited scleroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_418 . obo:DOID_1578 oboInOwl:hasDbXref "ICD10CM:M34.81"^^xsd:string, "ICD9CM:517.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:196133001"^^xsd:string, "UMLS_CUI:C0339904"^^xsd:string ; oboInOwl:hasExactSynonym "lung disease with systemic sclerosis"@en, "lung involvement in systemic sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1578"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary systemic sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_418, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_1579 obo:IAO_0000115 "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3226"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98"^^xsd:string, "ICD9CM:519"^^xsd:string, "SNOMEDCT_US_2021_03_01:155603009"^^xsd:string, "UMLS_CUI:C0029582"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1579"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "respiratory system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ) ] . obo:DOID_1580 oboInOwl:hasDbXref "MESH:D045743"^^xsd:string, "NCI:C116791"^^xsd:string, "SNOMEDCT_US_2021_03_01:128460000"^^xsd:string, "UMLS_CUI:C1258104"^^xsd:string ; oboInOwl:hasExactSynonym "diffuse systemic sclerosis"@en, "systemic sclerosis, diffuse"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse scleroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_418 . obo:DOID_1583 obo:IAO_0000115 "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A15.5"^^xsd:string, "ICD9CM:012.3"^^xsd:string, "MESH:D014387"^^xsd:string, "NCI:C26895"^^xsd:string, "SNOMEDCT_US_2021_03_01:70341005"^^xsd:string, "UMLS_CUI:C0041315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1583"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3437, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000298 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000709 ] . obo:DOID_1584 obo:IAO_0000115 "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:517.3"^^xsd:string, "MESH:D056586"^^xsd:string, "NCI:C138179"^^xsd:string, "SNOMEDCT_US_2021_03_01:372146004"^^xsd:string, "UMLS_CUI:C0742343"^^xsd:string ; oboInOwl:hasExactSynonym "acute chest syndrome in sickle cell disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1584"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute chest syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000634 ] ; skos:exactMatch "MESH:D056586"^^xsd:string . obo:DOID_1585 oboInOwl:hasExactSynonym "Rheumatic pneumonia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1585"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rheumatic pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1586 obo:IAO_0000115 "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1006"^^xsd:string, "DOID:1007"^^xsd:string ; oboInOwl:hasDbXref "GARD:5699"^^xsd:string, "ICD10CM:I00"^^xsd:string, "ICD10CM:I00-I02"^^xsd:string, "ICD9CM:390"^^xsd:string, "ICD9CM:390-392.99"^^xsd:string, "MESH:D012213"^^xsd:string, "NCI:C34984"^^xsd:string, "SNOMEDCT_US_2021_03_01:155265007"^^xsd:string, "SNOMEDCT_US_2021_03_01:274095001"^^xsd:string, "UMLS_CUI:C0035436"^^xsd:string, "UMLS_CUI:C0264743"^^xsd:string ; oboInOwl:hasExactSynonym "ACUTE RHEUMATIC FEVER"@en, "RhF - Rheumatic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1586"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "rheumatic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1301 ] ; skos:exactMatch "MESH:D012213"^^xsd:string . obo:DOID_1587 oboInOwl:hasDbXref "NCI:C3991"^^xsd:string, "SNOMEDCT_US_2021_03_01:2897005"^^xsd:string, "UMLS_CUI:C0272286"^^xsd:string ; oboInOwl:hasExactSynonym "Auto-immune thrombocytopenia"@en, "Immune thrombocytopenia"@en, "Thrombocytopenia Due to Immune Destruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thrombocytopenia due to platelet alloimmunization"^^xsd:string ; rdfs:subClassOf obo:DOID_1588 . obo:DOID_1588 obo:IAO_0000115 "A blood platelet disease that is characterized by low a platelet count in the blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.6"^^xsd:string, "ICD9CM:287.5"^^xsd:string, "MESH:D013921"^^xsd:string, "OMIM:188000"^^xsd:string, "OMIM:273900"^^xsd:string, "OMIM:300367"^^xsd:string, "OMIM:313900"^^xsd:string, "OMIM:612004"^^xsd:string, "ORDO:852"^^xsd:string, "SNOMEDCT_US_2021_03_01:165556002"^^xsd:string, "UMLS_CUI:C0040034"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1588"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_159 oboInOwl:hasExactSynonym "Mesothelial neoplasm (morphologic abnormality)"@en, "Mesothelial neoplasm NOS (morphologic abnormality)"@en, "Mesothelial tumor"@en, "Mesothelial tumor morphology (qualifier value)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:159"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesothelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1591 oboInOwl:hasDbXref "ICD10CM:I15.0"^^xsd:string, "MESH:D006978"^^xsd:string, "NCI:C85044"^^xsd:string, "SNOMEDCT_US_2021_03_01:123799005"^^xsd:string, "UMLS_CUI:C0020545"^^xsd:string ; oboInOwl:hasExactSynonym "Renovascular hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1591"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renovascular hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_1073 . obo:DOID_1592 oboInOwl:hasExactSynonym "secondary malignant neoplasm of retroperitoneum and peritoneum (disorder)"@en, "secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1592"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of retroperitoneum and peritoneum"^^xsd:string ; owl:deprecated true . obo:DOID_1593 oboInOwl:hasExactSynonym "metastatic neoplasm to the Peritoneum"@en, "secondary malignant neoplasm of the peritoneum (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1593"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the peritoneum"^^xsd:string ; owl:deprecated true . obo:DOID_1595 obo:IAO_0000115 "A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6340"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003761"^^xsd:string, "MESH:D003866"^^xsd:string, "NCI:C34532"^^xsd:string, "NCI:C35094"^^xsd:string, "OMIM:608516"^^xsd:string, "SNOMEDCT_US_2021_03_01:191599006"^^xsd:string, "UMLS_CUI:C0011573"^^xsd:string, "UMLS_CUI:C0041696"^^xsd:string ; oboInOwl:hasExactSynonym "clinical depression"@en, "unipolar depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1595"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "endogenous depression"^^xsd:string ; rdfs:subClassOf obo:DOID_1470 . obo:DOID_1596 oboInOwl:hasAlternativeId "DOID:14672"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F32.9"^^xsd:string, "MESH:D003863"^^xsd:string, "NCI:C2982"^^xsd:string, "SNOMEDCT_US_2021_03_01:41006004"^^xsd:string, "UMLS_CUI:C0011570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1596"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mental depression"^^xsd:string ; rdfs:subClassOf obo:DOID_3324 . obo:DOID_1597 oboInOwl:hasExactSynonym "Major depressive disorder, single episode, mild degree"@en, "Mild major depression, single episode (disorder)"@en, "Single major depressive episode, mild (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1597"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode mild major depression"^^xsd:string ; owl:deprecated true . obo:DOID_1599 oboInOwl:hasExactSynonym "Major depressive disorder, single episode, moderate degree"@en, "Moderate major depression, single episode (disorder)"@en, "Single major depressive episode, moderate (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1599"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode moderate major depression"^^xsd:string ; owl:deprecated true . obo:DOID_16 obo:IAO_0000115 "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:16"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "integumentary system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002416 ] ) ] . obo:DOID_1602 oboInOwl:hasAlternativeId "DOID:1600"^^xsd:string, "DOID:9941"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I88.1"^^xsd:string, "ICD10CM:L04"^^xsd:string, "ICD9CM:289.1"^^xsd:string, "ICD9CM:683"^^xsd:string, "MESH:D008199"^^xsd:string, "NCI:C26821"^^xsd:string, "NCI:C26966"^^xsd:string, "NCI:C26978"^^xsd:string, "SNOMEDCT_US_2021_03_01:154836001"^^xsd:string, "SNOMEDCT_US_2021_03_01:156318008"^^xsd:string, "SNOMEDCT_US_2021_03_01:19471005"^^xsd:string, "UMLS_CUI:C0024205"^^xsd:string, "UMLS_CUI:C0154304"^^xsd:string, "UMLS_CUI:C0157705"^^xsd:string ; oboInOwl:hasExactSynonym "Adenitis"@en, "Inflammation of lymph node"@en, "acute adenitis"@en, "acute lymphadenitis"@en, "chronic Lymphadenitis"@en, "chronic adenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9942 . obo:DOID_1607 obo:IAO_0000115 "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom aberrant behavior, has_symptom seizure, and has_symptom coma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E15"^^xsd:string, "ICD9CM:251.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:267476006"^^xsd:string, "UMLS_CUI:C0020617"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1607"^^xsd:string ; a owl:Class ; rdfs:label "hypoglycemic coma"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_161 obo:IAO_0000115 "A skin disease characterized_by growth of keratin on the skin or mucous membranes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007642"^^xsd:string, "NCI:C34747"^^xsd:string, "SNOMEDCT_US_2021_03_01:254666005"^^xsd:string, "UMLS_CUI:C0022593"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:161"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_1612 obo:IAO_0000115 "A thoracic cancer that originates in the mammary gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1648"^^xsd:string, "DOID:4241"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50"^^xsd:string, "MESH:D001943"^^xsd:string, "NCI:C9335"^^xsd:string, "OMIM:114480"^^xsd:string, "SNOMEDCT_US_2021_03_01:254837009"^^xsd:string, "UMLS_CUI:C0006142"^^xsd:string ; oboInOwl:hasExactSynonym "breast tumor"@en, "malignant neoplasm of breast"@en, "malignant tumor of the breast"@en, "mammary cancer"@en, "mammary tumor"@en, "primary breast cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mammary neoplasm"@en ; oboInOwl:id "DOID:1612"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3463, obo:DOID_5093 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] . obo:DOID_1614 obo:IAO_0000115 "A breast cancer that occurs in males."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9796"^^xsd:string ; oboInOwl:hasDbXref "GARD:9312"^^xsd:string, "MESH:D018567"^^xsd:string, "SNOMEDCT_US_2021_03_01:126937006"^^xsd:string, "UMLS_CUI:C0242788"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of male breast"@en, "neoplasm of male breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1614"^^xsd:string ; a owl:Class ; rdfs:label "male breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016410 ] ) ] . obo:DOID_1616 obo:IAO_0000115 "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5193"^^xsd:string, "UMLS_CUI:C1332492"^^xsd:string ; oboInOwl:hasExactSynonym "benign Eccrine breast Spiradenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign eccrine breast spiradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1618 obo:IAO_0000115 "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2684"^^xsd:string, "DOID:2693"^^xsd:string, "DOID:7226"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D24"^^xsd:string, "MESH:D018226"^^xsd:string, "NCI:C3744"^^xsd:string, "NCI:C4276"^^xsd:string, "NCI:C5194"^^xsd:string, "SNOMEDCT_US_2021_03_01:254847007"^^xsd:string, "SNOMEDCT_US_2021_03_01:269640007"^^xsd:string, "SNOMEDCT_US_2021_03_01:65877006"^^xsd:string, "UMLS_CUI:C0178421"^^xsd:string, "UMLS_CUI:C0206650"^^xsd:string, "UMLS_CUI:C0346158"^^xsd:string, "UMLS_CUI:C1333137"^^xsd:string ; oboInOwl:hasExactSynonym "Complex Fibroadenoma of breast"@en, "Fibroadenoma"@en, "Fibroadenoma of breast"@en, "Juvenile fibroadenoma"@en, "cellular Fibroadenoma"@en, "fibroadenoma"@en, "juvenile fibroadenoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1618"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast fibroadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_162 obo:IAO_0000115 "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C80.1"^^xsd:string, "ICD9CM:199"^^xsd:string, "ICDO:M8000/3"^^xsd:string, "MESH:D009369"^^xsd:string, "NCI:C9305"^^xsd:string, "SNOMEDCT_US_2021_03_01:269513004"^^xsd:string, "UMLS_CUI:C0006826"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm"@en, "malignant tumor"@en, "primary cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:162"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:DO_GXD_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating out dated UMLS CUI."^^xsd:string ; rdfs:label "cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_14566 . obo:DOID_1620 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1620"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast fibroepithelial tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1623 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40399"^^xsd:string, "UMLS_CUI:C1511317"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1623"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1624 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1624"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast soft tissue tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1625 obo:IAO_0000115 "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40382"^^xsd:string, "SNOMEDCT_US_2021_03_01:269640007"^^xsd:string, "UMLS_CUI:C1328385"^^xsd:string ; oboInOwl:hasExactSynonym "Ademoma - breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1625"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_1626 obo:IAO_0000115 "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3863"^^xsd:string, "SNOMEDCT_US_2021_03_01:254848002"^^xsd:string, "UMLS_CUI:C0238034"^^xsd:string ; oboInOwl:hasExactSynonym "duct papilloma of breast"@en, "papilloma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast duct papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1628, obo:DOID_2615, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] ) ] . obo:DOID_1627 oboInOwl:hasDbXref "MESH:D018300"^^xsd:string, "NCI:C3785"^^xsd:string, "SNOMEDCT_US_2021_03_01:5244003"^^xsd:string, "UMLS_CUI:C0206713"^^xsd:string ; oboInOwl:hasExactSynonym "ductal papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1627"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraductal papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_3013, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_1628 obo:IAO_0000115 "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36090"^^xsd:string, "UMLS_CUI:C1334252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1628"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraductal papillary breast neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3013 . obo:DOID_1629 obo:IAO_0000115 "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40397"^^xsd:string, "UMLS_CUI:C1511320"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1629"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast myofibroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_163 oboInOwl:hasExactSynonym "Mucoepidermoid neoplasm (morphologic abnormality)"@en, "Mucoepidermoid neoplasm (morphology)"@en, "Mucoepidermoid neoplasm NOS (morphologic abnormality)"@en, "Mucoepidermoid tumor [obs]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mucoepidermoid tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1631 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in epithelial and stromal tissue and derives_from periductal stromal cells of the breast."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1633"^^xsd:string, "DOID:2608"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D48.6"^^xsd:string, "MESH:D003557"^^xsd:string, "NCI:C2977"^^xsd:string, "NCI:C4274"^^xsd:string, "NCI:C5196"^^xsd:string, "SNOMEDCT_US_2021_03_01:16566002"^^xsd:string, "SNOMEDCT_US_2021_03_01:71232009"^^xsd:string, "SNOMEDCT_US_2021_03_01:720344007"^^xsd:string, "UMLS_CUI:C0010701"^^xsd:string, "UMLS_CUI:C0334501"^^xsd:string, "UMLS_CUI:C1332533"^^xsd:string ; oboInOwl:hasExactSynonym "Cystosarcoma phyllodes"@en, "Phyllodes neoplasm"@en, "benign Phyllodes neoplasm"@en, "benign Phyllodes neoplasm of the breast"@en, "benign cystosarcoma phyllodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1631"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign breast phyllodes tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1634 obo:IAO_0000115 "A breast benign neoplasm that is characterized by papillary proliferations within multiple terminal duct-lobular units or in the distal branches (terminal ducts) of the duct system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6977"^^xsd:string, "UMLS_CUI:C1332636"^^xsd:string ; oboInOwl:hasExactSynonym "papillomatosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1637 obo:IAO_0000115 "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40381"^^xsd:string, "UMLS_CUI:C1511284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1637"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast angiomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1271, obo:DOID_3463 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1271 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] . obo:DOID_1638 obo:IAO_0000115 "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050121"^^xsd:string, "DOID:0050122"^^xsd:string, "DOID:10094"^^xsd:string, "DOID:1640"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:013.2"^^xsd:string, "MESH:D016862"^^xsd:string, "SNOMEDCT_US_2021_03_01:40769007"^^xsd:string, "UMLS_CUI:C0085388"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of meninges and central nervous system"@en, "intracranial tuberculoma"@en, "tuberculoma of brain"@en, "tuberculosis of meninges and central nervous system"@en, "tuberculous abscess of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1638"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "central nervous system tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_331, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_1639 obo:IAO_0000115 "An extrapulmonary tuberculosis that results in formation of lesions located in bone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.0"^^xsd:string, "ICD9CM:015.9"^^xsd:string, "MESH:D014394"^^xsd:string, "SNOMEDCT_US_2021_03_01:154287006"^^xsd:string, "UMLS_CUI:C0041324"^^xsd:string ; oboInOwl:hasExactSynonym "osteoarticular tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1639"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "skeletal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_0080001, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_164 oboInOwl:hasExactSynonym "cystic, mucinous and serous neoplasm (morphologic abnormality)"@en, "cystic, mucinous and serous tumor (qualifier value)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:164"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cystic, mucinous, and serous neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1641 obo:IAO_0000115 "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5144"^^xsd:string, "UMLS_CUI:C1332477"^^xsd:string ; oboInOwl:hasExactSynonym "benign Adenomyoepithelioma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign breast adenomyoepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1642 obo:IAO_0000115 "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6640"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5143"^^xsd:string, "NCI:C6899"^^xsd:string, "UMLS_CUI:C1334564"^^xsd:string, "UMLS_CUI:C1510795"^^xsd:string ; oboInOwl:hasExactSynonym "breast Adenomyoepithelioma with malignant Change"@en, "malignant adenomyoepithelioma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenomyoepithelioma of the breast"@en ; oboInOwl:id "DOID:1642"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast adenomyoepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3004 . obo:DOID_1647 obo:IAO_0000115 "A female breast cancer that is located_in the upper-inner quadrant of the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:174.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:188152004"^^xsd:string, "UMLS_CUI:C0153550"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of upper-inner quadrant of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1647"^^xsd:string ; a owl:Class ; rdfs:label "female breast upper-inner quadrant cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_1649 obo:IAO_0000115 "A female breast cancer that is located_in the lower-inner quadrant of the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50.31"^^xsd:string, "ICD9CM:174.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:188153009"^^xsd:string, "UMLS_CUI:C0153551"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lower-inner quadrant of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1649"^^xsd:string ; a owl:Class ; rdfs:label "female breast lower-inner quadrant cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_1650 obo:IAO_0000115 "A female breast cancer that is located_in the breast tissue extending into the axilla."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50.61"^^xsd:string, "ICD9CM:174.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:93685009"^^xsd:string, "UMLS_CUI:C0153554"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of axillary tail of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1650"^^xsd:string ; a owl:Class ; rdfs:label "female breast axillary tail cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_1657 obo:IAO_0000115 "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles."^^xsd:string ; oboInOwl:hasDbXref "GARD:7853"^^xsd:string, "ICD10CM:Q21.0"^^xsd:string, "ICD9CM:745.4"^^xsd:string, "MESH:D006345"^^xsd:string, "NCI:C84506"^^xsd:string, "OMIM:614429"^^xsd:string, "OMIM:614431"^^xsd:string, "OMIM:614432"^^xsd:string, "ORDO:1480"^^xsd:string, "SNOMEDCT_US_2021_03_01:156914003"^^xsd:string, "UMLS_CUI:C0018818"^^xsd:string ; oboInOwl:hasExactSynonym "Interventricular septal defect"@en, "Ventricular septal abnormality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1657"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "ventricular septal defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1681 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_114 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002094 ] ) ] . obo:DOID_1659 obo:IAO_0000115 "A brain cancer that is located in the supratentorial region."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1658"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.0"^^xsd:string, "MESH:D015173"^^xsd:string, "NCI:C3397"^^xsd:string, "NCI:C4964"^^xsd:string, "UMLS_CUI:C0038874"^^xsd:string, "UMLS_CUI:C0751589"^^xsd:string ; oboInOwl:hasExactSynonym "Brain neoplasm, Supratentorial"@en, "malignant Supratentorial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1659"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supratentorial cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_166 oboInOwl:hasDbXref "MESH:D017600"^^xsd:string, "NCI:C3717"^^xsd:string, "SNOMEDCT_US_2021_03_01:1513001"^^xsd:string, "UMLS_CUI:C0206094"^^xsd:string ; oboInOwl:hasExactSynonym "Infantile Melanotic neuroectodermal neoplasm"@en, "Melanotic neuroectodermal tumor"@en, "Melanotic neuroectodermal tumor of infancy"@en, "Melanotic neuroectodermal tumour"@en, "Melanotic neuroectodermal tumour of infancy"@en, "Pigmented neuroectodermal tumour of infancy"@en, "melanotic neuroectodermal tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanotic neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_1660 oboInOwl:hasAlternativeId "DOID:1663"^^xsd:string ; oboInOwl:hasDbXref "GARD:12017"^^xsd:string, "NCI:C4659"^^xsd:string, "NCI:C6767"^^xsd:string, "SNOMEDCT_US_2021_03_01:277508009"^^xsd:string, "UMLS_CUI:C0349621"^^xsd:string, "UMLS_CUI:C1334612"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal Region germ cell tumor"@en, "Pineal germ cell tumor"@en, "malignant Pineal Parenchymal germ cell tumor"@en, "pineal germ cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant pineal area germ cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5032 . obo:DOID_1661 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1661"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant intracranial germ cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1664 obo:IAO_0000115 "A pineal gland neoplasm located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:9369"^^xsd:string, "MESH:D010871"^^xsd:string, "NCI:C9344"^^xsd:string, "SNOMEDCT_US_2021_03_01:31671006"^^xsd:string, "UMLS_CUI:C0205898"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1664"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5032 . obo:DOID_1665 obo:IAO_0000115 "An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord."^^xsd:string ; oboInOwl:hasExactSynonym "embryonal tumor of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "embryonal neoplasm of CNS"@en ; oboInOwl:id "DOID:1665"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system embryonal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_1666 oboInOwl:hasExactSynonym "Enthesopathy of hip region"@en, "Enthesopathy of hip region (disorder)"@en, "Enthesopathy of the hip region"@en, "Enthesopathy of the hip region (disorder)"@en, "Hip enthesopathy NOS (disorder)"@en, "Hip enthesopathy, unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1666"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hip enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_1667 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1667"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_1670 oboInOwl:hasAlternativeId "DOID:12407"^^xsd:string, "DOID:12810"^^xsd:string, "DOID:12982"^^xsd:string, "DOID:1669"^^xsd:string, "DOID:1671"^^xsd:string, "DOID:7354"^^xsd:string, "DOID:8473"^^xsd:string, "DOID:8522"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:711.2"^^xsd:string, "NCI:C35225"^^xsd:string, "SNOMEDCT_US_2021_03_01:62918002"^^xsd:string, "UMLS_CUI:C0157770"^^xsd:string ; oboInOwl:hasExactSynonym "Arthropathy in Behcet's syndrome involving ankle and foot"@en, "Arthropathy in Behcet's syndrome involving forearm"@en, "Arthropathy in Behcet's syndrome involving hand"@en, "Arthropathy in Behcet's syndrome involving lower leg"@en, "Arthropathy in Behcet's syndrome involving multiple sites"@en, "Arthropathy in Behcet's syndrome involving pelvic region and thigh"@en, "Arthropathy in Behcet's syndrome involving shoulder region"@en, "Arthropathy in Behcet's syndrome involving upper arm"@en, "Behcet syndrome arthropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1670"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Behcet's syndrome arthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_1672 obo:IAO_0000115 "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J93.0"^^xsd:string, "ICD9CM:512.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:76537003"^^xsd:string, "UMLS_CUI:C0155907"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1672"^^xsd:string ; a owl:Class ; rdfs:label "spontaneous tension pneumothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_1673 . obo:DOID_1673 obo:IAO_0000115 "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J93.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:196103008"^^xsd:string, "UMLS_CUI:C0029850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1673"^^xsd:string ; a owl:Class ; rdfs:label "pneumothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_1532 ; skos:exactMatch "MESH:D011030"^^xsd:string . obo:DOID_1677 oboInOwl:hasAlternativeId "DOID:1676"^^xsd:string, "DOID:2167"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:641.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:198897009"^^xsd:string, "UMLS_CUI:C0156617"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1677"^^xsd:string ; a owl:Class ; rdfs:label "low implantation of placenta"^^xsd:string ; rdfs:subClassOf obo:DOID_11060 . obo:DOID_1678 obo:IAO_0000115 "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N30.1"^^xsd:string, "ICD9CM:595.1"^^xsd:string, "MESH:D018856"^^xsd:string, "SNOMEDCT_US_2021_03_01:44497007"^^xsd:string, "UMLS_CUI:C0600040"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1678"^^xsd:string ; a owl:Class ; rdfs:label "chronic interstitial cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1680 . obo:DOID_1679 obo:IAO_0000115 "A bladder disease that is characterized by inflammation of the bladder."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N30"^^xsd:string, "ICD9CM:595"^^xsd:string, "MESH:D003556"^^xsd:string, "NCI:C26738"^^xsd:string, "SNOMEDCT_US_2021_03_01:38822007"^^xsd:string, "UMLS_CUI:C0010692"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1680 oboInOwl:hasDbXref "ICD10CM:N30.2"^^xsd:string, "ICD9CM:595.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:197839008"^^xsd:string, "UMLS_CUI:C0156268"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1680"^^xsd:string ; a owl:Class ; rdfs:label "chronic cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_1681 oboInOwl:hasDbXref "ICD10CM:Q21.9"^^xsd:string, "MESH:D006343"^^xsd:string, "NCI:C84482"^^xsd:string, "SNOMEDCT_US_2021_03_01:204290008"^^xsd:string, "UMLS_CUI:C0018816"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiac septal defects"@en, "Congenital septal defect of heart"@en, "Septal defect"@en, "septal defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart septal defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_114 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002099 ] ) ] . obo:DOID_1682 oboInOwl:hasDbXref "ICD10CM:Q24.9"^^xsd:string, "ICD9CM:746.9"^^xsd:string, "MESH:D006330"^^xsd:string, "NCI:C34666"^^xsd:string, "SNOMEDCT_US_2021_03_01:268315002"^^xsd:string, "UMLS_CUI:C0018798"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Heart Defects"@en, "Congenital anomaly of heart"@en, "Heart Malformation"@en, "congenital heart defect"@en, "heart defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Heart-congenital defect"@en ; oboInOwl:id "DOID:1682"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_1685 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1685"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_1686 obo:IAO_0000115 "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000516"^^xsd:string, "ICD10CM:H40"^^xsd:string, "ICD9CM:365"^^xsd:string, "MESH:D005901"^^xsd:string, "NCI:C26782"^^xsd:string, "SNOMEDCT_US_2021_03_01:155120009"^^xsd:string, "UMLS_CUI:C0017601"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1686"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_1687 obo:IAO_0000115 "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoinmmune diseases."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015355"^^xsd:string, "SNOMEDCT_US_2021_03_01:193564003"^^xsd:string, "UMLS_CUI:C0017609"^^xsd:string ; oboInOwl:hasExactSynonym "secondary angle-closure glaucoma with rubeosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1687"^^xsd:string ; a owl:Class ; rdfs:label "neovascular glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_169 obo:IAO_0000115 "An endocrine gland cancer that has_material_basis_in neuroendocrine cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D3A.8"^^xsd:string, "ICD9CM:209-209.99"^^xsd:string, "MESH:D018358"^^xsd:string, "NCI:C3809"^^xsd:string, "SNOMEDCT_US_2021_03_01:55937004"^^xsd:string, "UMLS_CUI:C0206754"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:169"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_170 . obo:DOID_1695 oboInOwl:hasExactSynonym "(Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS)"@en, "Congenital ichthyosis of skin (disorder)"@en, "Congenital ichthyosis, unspecified (disorder)"@en, "Ichthyosis congenita"@en, "Ichthyosis congenita NOS (disorder)"@en, "ichthyosis congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1695"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital ichthyosis"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_1697 obo:IAO_0000115 "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007057"^^xsd:string, "ORDO:79354"^^xsd:string ; oboInOwl:hasExactSynonym "ichthyoses"@en, "non-syndromic ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1697"^^xsd:string ; a owl:Class ; rdfs:label "ichthyosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011368 ] . obo:DOID_1699 oboInOwl:hasAlternativeId "DOID:1696"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1699"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital ichthyosiform erythroderma"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_17 obo:IAO_0000115 "A disease of anatomical entity that occurs in the muscular and/or skeletal system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009140"^^xsd:string, "NCI:C107377"^^xsd:string, "SNOMEDCT_US_2021_03_01:268047003"^^xsd:string, "UMLS_CUI:C0026857"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:17"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "musculoskeletal system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_170 obo:IAO_0000115 "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10009"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C75.9"^^xsd:string, "ICD9CM:194.9"^^xsd:string, "MESH:D004701"^^xsd:string, "NCI:C3010"^^xsd:string, "NCI:C3575"^^xsd:string, "SNOMEDCT_US_2021_03_01:127015005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93780007"^^xsd:string, "UMLS_CUI:C0014132"^^xsd:string, "UMLS_CUI:C0153658"^^xsd:string ; oboInOwl:hasExactSynonym "Endocrine tumor"@en, "endocrine neoplasm"@en, "malignant Endocrine tumor"@en, "malignant neoplasm of endocrine gland"@en, "malignant tumour of endocrine gland"@en, "neoplasm of endocrine gland"@en, "neoplasm of endocrine system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:170"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "endocrine gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002368 ] ) ] . obo:DOID_1700 obo:IAO_0000115 "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "GARD:7904"^^xsd:string, "ICD10CM:Q80.1"^^xsd:string, "MESH:D016114"^^xsd:string, "NCI:C84779"^^xsd:string, "OMIM:308100"^^xsd:string, "SNOMEDCT_US_2021_03_01:72523005"^^xsd:string, "UMLS_CUI:C0079588"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked ichthyosis with steryl-sulphatase deficiency"@en, "X-linked placental steryl-sulphatase deficiency"@en, "X-linked recessive ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "X-linked ichthyosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1697, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_1701 obo:IAO_0000115 "A lipid metabolism disorder that involves defects in steroid metabolism."^^xsd:string ; oboInOwl:hasDbXref "MESH:D043202"^^xsd:string, "UMLS_CUI:C1257809"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1701"^^xsd:string ; a owl:Class ; rdfs:label "steroid inherited metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_1702 obo:IAO_0000115 "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface."^^xsd:string ; oboInOwl:hasDbXref "GARD:6752"^^xsd:string, "ICD10CM:Q80.0"^^xsd:string, "MESH:D016112"^^xsd:string, "NCI:C84778"^^xsd:string, "OMIM:146700"^^xsd:string, "SNOMEDCT_US_2021_03_01:205551004"^^xsd:string, "UMLS_CUI:C0079584"^^xsd:string ; oboInOwl:hasExactSynonym "Dominant congenital ichthyosiform erythroderma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1702"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ichthyosis vulgaris"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1703 oboInOwl:hasDbXref "GARD:7578"^^xsd:string, "ICD10CM:C91.1"^^xsd:string, "NCI:C35424"^^xsd:string, "SNOMEDCT_US_2021_03_01:277550009"^^xsd:string, "UMLS_CUI:C0349631"^^xsd:string ; oboInOwl:hasExactSynonym "Richter syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1703"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Richter's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1040 . obo:DOID_1709 oboInOwl:hasAlternativeId "DOID:0050027"^^xsd:string, "DOID:0050031"^^xsd:string, "DOID:0050033"^^xsd:string, "DOID:10243"^^xsd:string ; oboInOwl:hasExactSynonym "flea-borne rickettsiosis"@en, "mite-borne rickettsiosis"@en, "rickettsiosis"@en, "tick-borne rickettsiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "rickettsia infection"@en ; oboInOwl:id "DOID:1709"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rickettsiosis"^^xsd:string ; owl:deprecated true . obo:DOID_171 oboInOwl:hasDbXref "MESH:D017599"^^xsd:string, "SNOMEDCT_US_2021_03_01:73676002"^^xsd:string, "UMLS_CUI:C0206093"^^xsd:string ; oboInOwl:hasExactSynonym "primitive Neuroectodermal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:171"^^xsd:string ; a owl:Class ; rdfs:label "neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3093 . obo:DOID_1712 obo:IAO_0000115 "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12034"^^xsd:string, "DOID:1711"^^xsd:string ; oboInOwl:hasDbXref "GARD:5830"^^xsd:string, "ICD10CM:I06.0"^^xsd:string, "ICD10CM:Q23.0"^^xsd:string, "ICD10CM:Q25.1"^^xsd:string, "ICD9CM:395.0"^^xsd:string, "ICD9CM:746.3"^^xsd:string, "MESH:D001024"^^xsd:string, "NCI:C50462"^^xsd:string, "SNOMEDCT_US_2021_03_01:155282009"^^xsd:string, "SNOMEDCT_US_2021_03_01:18546004"^^xsd:string, "SNOMEDCT_US_2021_03_01:60573004"^^xsd:string, "UMLS_CUI:C0003507"^^xsd:string, "UMLS_CUI:C0152417"^^xsd:string, "UMLS_CUI:C0155567"^^xsd:string ; oboInOwl:hasExactSynonym "Aortic stenosis"@en, "Rheumatic aortic stenosis"@en, "rheumatic aortic valve stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1712"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "aortic valve stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_62, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0031652 ] ; skos:exactMatch "MESH:D001024"^^xsd:string . obo:DOID_1713 oboInOwl:hasDbXref "ICD10CM:G25.83"^^xsd:string, "ICD9CM:333.93"^^xsd:string, "SNOMEDCT_US_2021_03_01:446995005"^^xsd:string, "UMLS_CUI:C0375200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1713"^^xsd:string ; a owl:Class ; rdfs:label "benign shuddering attacks"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_172 oboInOwl:hasDbXref "MESH:D049309"^^xsd:string, "NCI:C97041"^^xsd:string, "SNOMEDCT_US_2021_03_01:65540008"^^xsd:string, "UMLS_CUI:C0333992"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell acanthoma"@en, "Pale (Clear cell) acanthoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:172"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_1724 oboInOwl:hasAlternativeId "DOID:10297"^^xsd:string, "DOID:11480"^^xsd:string, "DOID:12880"^^xsd:string, "DOID:13836"^^xsd:string, "DOID:1723"^^xsd:string, "DOID:9780"^^xsd:string, "DOID:9781"^^xsd:string, "DOID:9782"^^xsd:string, "DOID:9783"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K26"^^xsd:string, "ICD9CM:532"^^xsd:string, "MESH:D004381"^^xsd:string, "NCI:C26755"^^xsd:string, "SNOMEDCT_US_2021_03_01:155691003"^^xsd:string, "SNOMEDCT_US_2021_03_01:39755000"^^xsd:string, "UMLS_CUI:C0010474"^^xsd:string, "UMLS_CUI:C0013295"^^xsd:string ; oboInOwl:hasExactSynonym "Curling Ulcer"@en, "Curling's ulcers"@en, "Stress Ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1724"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Adding UMLS CUI for Curling Ulcer C0013295."^^xsd:string ; rdfs:label "duodenal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_1725 obo:IAO_0000115 "An organ system cancer that is located in the peritoneum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C48.1"^^xsd:string, "ICD9CM:158.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:187808008"^^xsd:string, "UMLS_CUI:C0153466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of peritoneum"@en, "peritoneal neoplasm"@en ; oboInOwl:id "DOID:1725"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "peritoneum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002358 ] ) ] . obo:DOID_1726 oboInOwl:hasDbXref "ICD10CM:H34.82"^^xsd:string, "NCI:C35341"^^xsd:string, "SNOMEDCT_US_2021_03_01:65593009"^^xsd:string, "UMLS_CUI:C0271080"^^xsd:string ; oboInOwl:hasExactSynonym "Partial Retinal Vein Occlusion"@en, "Partial occlusion of retinal vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1726"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "partial of retinal vein occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_1727 . obo:DOID_1727 oboInOwl:hasDbXref "MESH:D012170"^^xsd:string, "NCI:C34981"^^xsd:string, "SNOMEDCT_US_2021_03_01:46085004"^^xsd:string, "UMLS_CUI:C0035328"^^xsd:string ; oboInOwl:hasExactSynonym "Occlusion, of retinal vein"@en, "Retinal vein occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1727"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal vein occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_8483, obo:DOID_866 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8483 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001673 ] ) ] . obo:DOID_1729 oboInOwl:hasDbXref "ICD10CM:H34"^^xsd:string, "ICD9CM:362.3"^^xsd:string, "NCI:C34980"^^xsd:string, "SNOMEDCT_US_2021_03_01:267717005"^^xsd:string, "UMLS_CUI:C0035326"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal vasc. occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1729"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal vascular occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, obo:DOID_341, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] . obo:DOID_173 oboInOwl:hasDbXref "NCI:C6796"^^xsd:string, "UMLS_CUI:C1333371"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine tumor"@en, "eccrine skin neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:173"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine sweat gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2664 . obo:DOID_1730 obo:IAO_0000115 "A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with pneumonia (disorder)"@en, "Pneumonia with histoplasmosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1730"^^xsd:string ; a owl:Class ; rdfs:label "obsolete histoplasmosis pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1731 obo:IAO_0000115 "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:351"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B39"^^xsd:string, "ICD9CM:115"^^xsd:string, "MESH:C538362"^^xsd:string, "MESH:D006660"^^xsd:string, "NCI:C34977"^^xsd:string, "NCI:C77201"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "UMLS_CUI:C0019655"^^xsd:string, "UMLS_CUI:C0035288"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "histoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1733 obo:IAO_0000115 "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1732"^^xsd:string ; oboInOwl:hasDbXref "GARD:6219"^^xsd:string, "ICD10CM:A07.2"^^xsd:string, "ICD9CM:007.4"^^xsd:string, "MESH:D003457"^^xsd:string, "NCI:C128408"^^xsd:string, "SNOMEDCT_US_2021_03_01:186126003"^^xsd:string, "UMLS_CUI:C0010418"^^xsd:string ; oboInOwl:hasExactSynonym "Cryptosporidial gastroenteritis"@en, "Infection by Cryptosporidium"@en, "intestinal cryptosporidiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cryptosporidiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5806 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_1734 obo:IAO_0000115 "A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1497"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1734"^^xsd:string ; a owl:Class ; rdfs:label "obsolete viral gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_1737 oboInOwl:hasDbXref "MESH:D004379"^^xsd:string, "NCI:C2995"^^xsd:string, "SNOMEDCT_US_2021_03_01:126833009"^^xsd:string, "UMLS_CUI:C0013291"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of duodenum"@en, "neoplasm of the duodenum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1737"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4072, obo:DOID_7505, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] . obo:DOID_1738 obo:IAO_0000115 "A small intestine benign neoplasm that is located_in the small intestine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7725"^^xsd:string, "SNOMEDCT_US_2021_03_01:424279009"^^xsd:string, "UMLS_CUI:C0238197"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma, small Bowel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1738"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_7505, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_174 oboInOwl:hasDbXref "GARD:8604"^^xsd:string, "MESH:D049309"^^xsd:string, "NCI:C7419"^^xsd:string, "UMLS_CUI:C0846967"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:174"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3168 ; skos:exactMatch "MESH:D049309"^^xsd:string . obo:DOID_1741 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1741"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug-induced psychotic disease with delusion"^^xsd:string ; owl:deprecated true . obo:DOID_1742 oboInOwl:hasDbXref "ICD9CM:292.1"^^xsd:string, "MESH:D011605"^^xsd:string, "SNOMEDCT_US_2021_03_01:191498001"^^xsd:string, "UMLS_CUI:C0033937"^^xsd:string ; oboInOwl:hasExactSynonym "Drug-induced psychosis"@en, "Drug-induced psychotic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1742"^^xsd:string ; a owl:Class ; rdfs:label "drug psychosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1203 . obo:DOID_1744 oboInOwl:hasExactSynonym "Lymphatic vessel tumor (morphologic abnormality)"@en, "Lymphatic vessel tumor (qualifier value)"@en, "Lymphatic vessel tumor NOS (morphologic abnormality)"@en, "neoplasm of the Lymphatic Vessel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1744"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant lymphatic vessel tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1748 obo:IAO_0000115 "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4549"^^xsd:string, "SNOMEDCT_US_2021_03_01:255003007"^^xsd:string, "UMLS_CUI:C0346359"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival Epidermoid carcinoma"@en, "invasive squamous cell carcinoma of the conjunctiva"@en, "ocular surface squamous neoplasia"@en, "squamous cell carcinoma of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1748"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5467, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_1749 obo:IAO_0000115 "A carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5512"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000707"^^xsd:string, "GARD:1091"^^xsd:string, "MESH:D002294"^^xsd:string, "MESH:D018307"^^xsd:string, "NCI:C2929"^^xsd:string, "SNOMEDCT_US_2021_03_01:154605007"^^xsd:string, "UMLS_CUI:C0007137"^^xsd:string, "UMLS_CUI:C0751688"^^xsd:string ; oboInOwl:hasExactSynonym "epidermoid carcinoma"@en, "malignant squamous cell tumor"@en, "squamous carcinoma"@en, "squamous cell Epithelioma"@en, "squamous cell cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1749"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] ) ] . obo:DOID_175 obo:IAO_0000115 "A cardiovascular cancer that is located_in blood vessels."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3339"^^xsd:string, "DOID:5454"^^xsd:string, "DOID:5548"^^xsd:string, "DOID:7019"^^xsd:string, "DOID:7020"^^xsd:string, "DOID:7392"^^xsd:string ; oboInOwl:hasDbXref "MESH:D019043"^^xsd:string, "NCI:C5348"^^xsd:string, "NCI:C5380"^^xsd:string, "NCI:C5383"^^xsd:string, "NCI:C5388"^^xsd:string, "NCI:C7390"^^xsd:string, "SNOMEDCT_US_2021_03_01:126737003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93817006"^^xsd:string, "UMLS_CUI:C0282607"^^xsd:string, "UMLS_CUI:C0346845"^^xsd:string, "UMLS_CUI:C1290407"^^xsd:string, "UMLS_CUI:C1334616"^^xsd:string, "UMLS_CUI:C1334617"^^xsd:string, "UMLS_CUI:C1334630"^^xsd:string, "UMLS_CUI:C1335753"^^xsd:string ; oboInOwl:hasExactSynonym "Blood Vessel neoplasm"@en, "Blood vessel tumor"@en, "Blood vessel tumors"@en, "Blood vessel tumour disorder"@en, "Haemangiomatous tumour"@en, "blood vessel neoplasm"@en, "leiomyosarcoma of the renal Vein"@en, "malignant great vessel tumor"@en, "malignant tumor of pulmonary Vein"@en, "malignant tumor of pulmonary artery"@en, "malignant vascular neoplasm"@en, "malignant vascular tumor"@en, "neoplasm of great vessel"@en, "pulmonary artery malignant neoplasm"@en, "pulmonary vein malignant neoplasm"@en, "renal vein leiomyosarcoma"@en, "vascular tissue neoplasm"@en, "vascular tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "vascular cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_176, obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007798 ] ) ] . obo:DOID_1751 oboInOwl:hasDbXref "NCI:C4550"^^xsd:string, "SNOMEDCT_US_2021_03_01:255004001"^^xsd:string, "UMLS_CUI:C0346360"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival melanoma"@en, "malignant melanoma of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1751"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant conjunctival melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5467 . obo:DOID_1752 obo:IAO_0000115 "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye."^^xsd:string ; oboInOwl:hasDbXref "GARD:7236"^^xsd:string, "GARD:8621"^^xsd:string ; oboInOwl:hasExactSynonym "eye melanoma"@en, "intraocular melanoma"@en, "melanoma of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1752"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ocular melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2174 . obo:DOID_1754 obo:IAO_0000115 "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008946"^^xsd:string, "NCI:C50654"^^xsd:string, "SNOMEDCT_US_2021_03_01:79619009"^^xsd:string, "UMLS_CUI:C0026269"^^xsd:string ; oboInOwl:hasExactSynonym "Mitral stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1754"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitral valve stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_61, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001718 ] . obo:DOID_1756 oboInOwl:hasDbXref "ICD10CM:G51"^^xsd:string, "ICD9CM:351"^^xsd:string, "MESH:D005155"^^xsd:string, "NCI:C27594"^^xsd:string, "SNOMEDCT_US_2021_03_01:90039006"^^xsd:string, "UMLS_CUI:C0015464"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "facial nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001647 ] ) ] . obo:DOID_1757 oboInOwl:hasDbXref "MESH:D005150"^^xsd:string, "NCI:C84703"^^xsd:string, "OMIM:141300"^^xsd:string, "SNOMEDCT_US_2021_03_01:29868009"^^xsd:string, "UMLS_CUI:C0015458"^^xsd:string ; oboInOwl:hasExactSynonym "PARRY-ROMBERG SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "facial hemiatrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1756 . obo:DOID_1758 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1758"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1759 obo:IAO_0000115 "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B39.4"^^xsd:string, "ICD9CM:115.0"^^xsd:string, "MESH:D006660"^^xsd:string, "SNOMEDCT_US_2021_03_01:187036002"^^xsd:string, "UMLS_CUI:C0153261"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1759"^^xsd:string ; a owl:Class ; rdfs:label "American histoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1731, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_176 obo:IAO_0000115 "An organ system cancer that located_in the heart and blood vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4784"^^xsd:string, "SNOMEDCT_US_2021_03_01:721573003"^^xsd:string, "UMLS_CUI:C0497243"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular tumors"@en, "cardiovascular neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:176"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiovascular cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_1760 oboInOwl:hasDbXref "NCI:C5827"^^xsd:string, "SNOMEDCT_US_2021_03_01:126973004"^^xsd:string, "UMLS_CUI:C1263899"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of facial nerve"@en, "tumor of Facial nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1760"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "facial nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_1761 oboInOwl:hasDbXref "GARD:7010"^^xsd:string, "ICD10CM:G51.2"^^xsd:string, "MESH:D008556"^^xsd:string, "NCI:C84886"^^xsd:string, "OMIM:155900"^^xsd:string, "SNOMEDCT_US_2021_03_01:2511001"^^xsd:string, "UMLS_CUI:C0025235"^^xsd:string ; oboInOwl:hasExactSynonym "Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal"@en, "Melkersson's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1761"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Melkersson-Rosenthal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1756 . obo:DOID_1762 obo:IAO_0000115 "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.0"^^xsd:string, "MESH:D002613"^^xsd:string, "NCI:C79545"^^xsd:string, "SNOMEDCT_US_2021_03_01:155664000"^^xsd:string, "UMLS_CUI:C0007971"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1762"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cheilitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9297, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; skos:exactMatch "MESH:D002613"^^xsd:string . obo:DOID_1766 obo:IAO_0000115 "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:300.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:430751001"^^xsd:string, "UMLS_CUI:C0015481"^^xsd:string ; oboInOwl:hasExactSynonym "Munchausen syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1766"^^xsd:string ; a owl:Class ; rdfs:label "factitious disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_1768 obo:IAO_0000115 "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause."^^xsd:string ; oboInOwl:hasDbXref "GARD:6191"^^xsd:string, "ICD10CM:F44"^^xsd:string, "ICD9CM:300.11"^^xsd:string, "MESH:D003291"^^xsd:string, "SNOMEDCT_US_2021_03_01:20734000"^^xsd:string, "UMLS_CUI:C0009946"^^xsd:string ; oboInOwl:hasExactSynonym "Conversion Hysterical Neurosis"@en, "Conversion hysteria or reaction"@en, "Hysterical neurosis, conversion type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1768"^^xsd:string ; a owl:Class ; rdfs:label "conversion disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_1770 oboInOwl:hasDbXref "ICD10CM:K59.31"^^xsd:string, "MESH:D008532"^^xsd:string, "SNOMEDCT_US_2021_03_01:28536002"^^xsd:string, "UMLS_CUI:C0025162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1770"^^xsd:string ; a owl:Class ; rdfs:label "toxic megacolon"^^xsd:string ; rdfs:subClassOf obo:DOID_11372 . obo:DOID_1776 oboInOwl:hasDbXref "ICD9CM:386.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:43000004"^^xsd:string, "UMLS_CUI:C0155519"^^xsd:string ; oboInOwl:hasExactSynonym "Labyrinthine unilateral reactive loss"@en, "Loss of labyrinthine reactivity, unilateral"@en, "Unilateral loss of labyrinthine reactivity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1776"^^xsd:string ; a owl:Class ; rdfs:label "labyrinthine unilateral reactive loss"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_1777 oboInOwl:hasDbXref "ICD9CM:386.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:194372007"^^xsd:string, "UMLS_CUI:C0155515"^^xsd:string ; oboInOwl:hasExactSynonym "Unilateral hyperactive labyrinth"@en, "hyperactive labyrinth, unilateral"@en, "hyperactive unilateral labyrinthine dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1777"^^xsd:string ; a owl:Class ; rdfs:label "unilateral hyperactive labyrinth"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_178 obo:IAO_0000115 "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0000405"^^xsd:string, "DOID:2403"^^xsd:string, "DOID:2869"^^xsd:string, "DOID:324"^^xsd:string, "DOID:325"^^xsd:string, "DOID:45"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I72.9"^^xsd:string, "ICD9CM:442.9"^^xsd:string, "MESH:D000783"^^xsd:string, "MESH:D014652"^^xsd:string, "MESH:D020758"^^xsd:string, "MESH:D020760"^^xsd:string, "NCI:C26693"^^xsd:string, "NCI:C35117"^^xsd:string, "SNOMEDCT_US_2021_03_01:27550009"^^xsd:string, "SNOMEDCT_US_2021_03_01:371029002"^^xsd:string, "SNOMEDCT_US_2021_03_01:432119003"^^xsd:string, "UMLS_CUI:C0002940"^^xsd:string, "UMLS_CUI:C0042373"^^xsd:string, "UMLS_CUI:C0752127"^^xsd:string, "UMLS_CUI:C0752130"^^xsd:string ; oboInOwl:hasExactSynonym "vascular tissue disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:178"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007798 ] ) ] . obo:DOID_1781 obo:IAO_0000115 "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10008"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C73"^^xsd:string, "ICD9CM:193"^^xsd:string, "KEGG:05216"^^xsd:string, "MESH:D013964"^^xsd:string, "NCI:C3414"^^xsd:string, "NCI:C7510"^^xsd:string, "SNOMEDCT_US_2021_03_01:127018007"^^xsd:string, "SNOMEDCT_US_2021_03_01:94098005"^^xsd:string, "UMLS_CUI:C0007115"^^xsd:string, "UMLS_CUI:C0040136"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid gland neoplasm"@en, "malignant neoplasm of thyroid gland"@en, "malignant tumour of thyroid gland"@en, "neoplasm of thyroid gland"@en, "thyroid neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1781"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "thyroid gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_170, obo:DOID_50 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002046 ] ) ] . obo:DOID_1785 obo:IAO_0000115 "An endocrine gland cancer located_in the pituitary gland located at the base of the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5671"^^xsd:string ; oboInOwl:hasDbXref "GARD:9371"^^xsd:string, "ICD10CM:C75.1"^^xsd:string, "MESH:D010911"^^xsd:string, "NCI:C3330"^^xsd:string, "NCI:C4769"^^xsd:string, "SNOMEDCT_US_2021_03_01:127024001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93964007"^^xsd:string, "UMLS_CUI:C0032019"^^xsd:string, "UMLS_CUI:C0496842"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary gland neoplasm"@en, "malignant Pituitary neoplasm"@en, "malignant tumor of pituitary gland"@en, "neoplasm of pituitary gland"@en, "pituitary gland cancer"@en, "pituitary neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1785"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_170, obo:DOID_53 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000007 ] ) ] . obo:DOID_1786 oboInOwl:hasDbXref "MESH:D000314"^^xsd:string, "NCI:C2860"^^xsd:string, "SNOMEDCT_US_2021_03_01:54292009"^^xsd:string, "UMLS_CUI:C0001630"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal Rest neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1786"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal rest tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089 ; skos:exactMatch "MESH:D000314"^^xsd:string . obo:DOID_1787 obo:IAO_0000115 "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010493"^^xsd:string, "NCI:C34915"^^xsd:string, "SNOMEDCT_US_2021_03_01:3238004"^^xsd:string, "UMLS_CUI:C0031046"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1787"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1788 obo:IAO_0000115 "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050874"^^xsd:string, "DOID:7954"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C45.1"^^xsd:string, "NCI:C8704"^^xsd:string, "NCI:C9350"^^xsd:string, "SNOMEDCT_US_2021_03_01:187806007"^^xsd:string, "UMLS_CUI:C0346109"^^xsd:string, "UMLS_CUI:C0854886"^^xsd:string ; oboInOwl:hasExactSynonym "Advanced malignant Mesothelioma of Peritoneum"@en, "advanced malignant peritoneal mesothelioma"@en, "malignant mesothelioma of peritoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1788"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "peritoneal mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1725, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000077 ] . obo:DOID_1789 oboInOwl:hasDbXref "NCI:C7633"^^xsd:string, "UMLS_CUI:C1377610"^^xsd:string ; oboInOwl:hasExactSynonym "Mesothelioma of Peritoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1789"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign peritoneal mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060117 . obo:DOID_1790 obo:IAO_0000115 "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4487"^^xsd:string, "DOID:6965"^^xsd:string, "DOID:7434"^^xsd:string ; oboInOwl:hasDbXref "MESH:D000086002"^^xsd:string, "NCI:C27926"^^xsd:string, "NCI:C4456"^^xsd:string, "NCI:C7865"^^xsd:string, "NCI:C8420"^^xsd:string, "OMIM:156240"^^xsd:string, "SNOMEDCT_US_2021_03_01:109378008"^^xsd:string, "UMLS_CUI:C0278752"^^xsd:string, "UMLS_CUI:C0345967"^^xsd:string, "UMLS_CUI:C0392400"^^xsd:string, "UMLS_CUI:C1332338"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse malignant Mesothelioma"@en, "advanced malignant mesothelioma"@en, "asbestos-related malignant mesothelioma"@en, "malignant tumor of Mesothelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1790"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "malignant mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ] ) ] ) ] . obo:DOID_1791 obo:IAO_0000115 "A carcinoma that is located_in the inside of the abdomen."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40022"^^xsd:string, "UMLS_CUI:C1514428"^^xsd:string ; oboInOwl:hasExactSynonym "primary peritoneal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peritoneal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1725, obo:DOID_305, obo:DOID_3119, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002358 ] . obo:DOID_1792 oboInOwl:hasDbXref "NCI:C5714"^^xsd:string, "UMLS_CUI:C1335307"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1792"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreas lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1793 obo:IAO_0000115 "An endocrine gland cancer located_in the pancreas."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14356"^^xsd:string, "DOID:1797"^^xsd:string, "DOID:3588"^^xsd:string, "DOID:9859"^^xsd:string ; oboInOwl:hasDbXref "GARD:9364"^^xsd:string, "ICD10CM:C25.0"^^xsd:string, "ICD10CM:C25.1"^^xsd:string, "ICD10CM:C25.2"^^xsd:string, "ICD9CM:157.0"^^xsd:string, "ICD9CM:157.1"^^xsd:string, "ICD9CM:157.2"^^xsd:string, "ICD9CM:157.8"^^xsd:string, "KEGG:05212"^^xsd:string, "MESH:D010190"^^xsd:string, "NCI:C3305"^^xsd:string, "ORDO:1333"^^xsd:string, "ORDO:217074"^^xsd:string, "SNOMEDCT_US_2021_03_01:126859007"^^xsd:string, "SNOMEDCT_US_2021_03_01:187796007"^^xsd:string, "SNOMEDCT_US_2021_03_01:93715005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93823001"^^xsd:string, "SNOMEDCT_US_2021_03_01:94082003"^^xsd:string, "UMLS_CUI:C0030297"^^xsd:string, "UMLS_CUI:C0153458"^^xsd:string, "UMLS_CUI:C0153459"^^xsd:string, "UMLS_CUI:C0153460"^^xsd:string, "UMLS_CUI:C0153463"^^xsd:string ; oboInOwl:hasExactSynonym "Ca body of pancreas"@en, "Ca head of pancreas"@en, "Ca tail of pancreas"@en, "malignant neoplasm of body of pancreas"@en, "malignant neoplasm of head of pancreas"@en, "malignant neoplasm of tail of pancreas"@en, "pancreas neoplasm"@en, "pancreatic neoplasm"@en, "pancreatic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1793"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "pancreatic cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_170, obo:DOID_26 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_1795 obo:IAO_0000115 "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1794"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7430"^^xsd:string, "SNOMEDCT_US_2021_03_01:255088001"^^xsd:string, "UMLS_CUI:C0346648"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of the Exocrine pancreas"@en, "malignant tumor of exocrine pancreas"@en, "malignant tumour of exocrine pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1795"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant exocrine pancreas neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1793 . obo:DOID_1796 obo:IAO_0000115 "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5715"^^xsd:string, "UMLS_CUI:C1096346"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1796"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreas sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_1793, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_1798 obo:IAO_0000115 "An islet cell tumor that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:13034"^^xsd:string, "ICD10CM:C25.4"^^xsd:string, "ICD9CM:157.4"^^xsd:string, "MESH:D018273"^^xsd:string, "NCI:C3770"^^xsd:string, "SNOMEDCT_US_2021_03_01:254612002"^^xsd:string, "UMLS_CUI:C1328479"^^xsd:string ; oboInOwl:hasExactSynonym "Islet cell carcinoma"@en, "carcinoma of endocrine pancreas"@en, "malignant neoplasm of islets of Langerhans"@en, "pancreatic neuroendocrine carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1798"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic endocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_1799 obo:IAO_0000115 "A pancreatic cancer that is located_in the pancreatic islet cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10165"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C25.4"^^xsd:string, "ICD10CM:D13.7"^^xsd:string, "MESH:D007516"^^xsd:string, "NCI:C27031"^^xsd:string, "SNOMEDCT_US_2021_03_01:254611009"^^xsd:string, "SNOMEDCT_US_2021_03_01:261713004"^^xsd:string, "UMLS_CUI:C0242363"^^xsd:string, "UMLS_CUI:C0496784"^^xsd:string ; oboInOwl:hasExactSynonym "Islet cell neoplasm"@en, "Islet cell tumor"@en, "Islet cell tumour"@en, "endocrine pancreas cancer"@en, "islet cell tumour"@en, "malignant pancreatic Endocrine tumor"@en, "malignant pancreatic Endocrine tumour"@en, "malignant tumor of endocrine pancreas"@en, "malignant tumour of endocrine pancreas"@en, "pancreatic Endocrine neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "islet cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1793 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000006 ] ) ] . obo:DOID_18 obo:IAO_0000115 "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:579"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27599"^^xsd:string, "UMLS_CUI:C1335051"^^xsd:string ; oboInOwl:hasExactSynonym "Non-neoplastic urinary tract disease"@en, "urinary tract disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:18"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] ) ] . obo:DOID_180 obo:IAO_0000115 "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018214"^^xsd:string, "NCI:C8422"^^xsd:string, "SNOMEDCT_US_2021_03_01:189896007"^^xsd:string, "UMLS_CUI:C0206640"^^xsd:string ; oboInOwl:hasExactSynonym "Fibro-osteoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "peripheral ossifying fibroma"@en ; oboInOwl:id "DOID:180"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ossifying fibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_1800 obo:IAO_0000115 "A carcinoma that derives_from neuroendocrine cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018278"^^xsd:string, "NCI:C3773"^^xsd:string, "SNOMEDCT_US_2021_03_01:55937004"^^xsd:string, "UMLS_CUI:C0206695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000165 ] . obo:DOID_1801 oboInOwl:hasExactSynonym "metastatic tumor to the pancreas"@en, "secondary malignant neoplasm of pancreas (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1801"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the pancreas"^^xsd:string ; owl:deprecated true . obo:DOID_1802 oboInOwl:hasDbXref "ICD9CM:355.9"^^xsd:string, "MESH:D020422"^^xsd:string, "SNOMEDCT_US_2021_03_01:32595002"^^xsd:string, "UMLS_CUI:C0235880"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1802"^^xsd:string ; a owl:Class ; rdfs:label "mononeuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_1803 oboInOwl:hasDbXref "MESH:D009443"^^xsd:string, "NCI:C116381"^^xsd:string, "SNOMEDCT_US_2021_03_01:247378004"^^xsd:string, "UMLS_CUI:C0027813"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral neuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1803"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_1804 obo:IAO_0000115 "A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1804"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_1805 obo:IAO_0000115 "An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions."^^xsd:string ; oboInOwl:hasExactSynonym "Enterovirus heart infection (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1805"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie carditis"^^xsd:string ; owl:deprecated true . obo:DOID_1806 obo:IAO_0000115 "A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1806"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_1811 oboInOwl:hasDbXref "ICD10CM:G90.5"^^xsd:string, "ICD9CM:337.2"^^xsd:string, "MESH:D012019"^^xsd:string, "NCI:C85042"^^xsd:string, "OMIM:604335"^^xsd:string, "SNOMEDCT_US_2021_03_01:203492008"^^xsd:string, "UMLS_CUI:C0034931"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1811"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "reflex sympathetic dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_3223 . obo:DOID_182 obo:IAO_0000115 "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002114"^^xsd:string, "NCI:C3672"^^xsd:string, "SNOMEDCT_US_2021_03_01:237881004"^^xsd:string, "UMLS_CUI:C0006663"^^xsd:string ; oboInOwl:hasExactSynonym "Pathologically calcified structure"@en, "pathologic calcification"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:182"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "calcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10575 . obo:DOID_1822 oboInOwl:hasDbXref "ICD10CM:H04.15"^^xsd:string, "ICD9CM:375.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:193979004"^^xsd:string, "UMLS_CUI:C0339121"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1822"^^xsd:string ; a owl:Class ; rdfs:label "secondary lacrimal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_1823 oboInOwl:hasExactSynonym "Epileptic absence status"@en, "Epileptic twilight state"@en, "Petit mal status (disorder)"@en, "Petit mal status, epileptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1823"^^xsd:string ; a owl:Class ; rdfs:label "obsolete petit mal status"^^xsd:string ; owl:deprecated true . obo:DOID_1824 oboInOwl:hasDbXref "GARD:10191"^^xsd:string, "MESH:D013226"^^xsd:string, "NCI:C85079"^^xsd:string, "SNOMEDCT_US_2021_03_01:155039002"^^xsd:string, "UMLS_CUI:C0038220"^^xsd:string ; oboInOwl:hasExactSynonym "Grand mal status"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1824"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "status epilepticus"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_1825 obo:IAO_0000115 "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004832"^^xsd:string, "NCI:C3023"^^xsd:string, "SNOMEDCT_US_2021_03_01:163596002"^^xsd:string, "UMLS_CUI:C0014553"^^xsd:string ; oboInOwl:hasExactSynonym "petit mal seizure"@en, "pyknolepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "absence seizure"@en ; oboInOwl:id "DOID:1825"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_1826 obo:IAO_0000115 "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000474"^^xsd:string, "ICD10CM:G40.909"^^xsd:string, "ICD9CM:345.9"^^xsd:string, "MESH:D004827"^^xsd:string, "NCI:C3020"^^xsd:string, "SNOMEDCT_US_2021_03_01:267698007"^^xsd:string, "UMLS_CUI:C0014544"^^xsd:string ; oboInOwl:hasExactSynonym "epilepsy syndrome"@en, "epileptic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1826"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_1827 obo:IAO_0000115 "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004829"^^xsd:string, "NCI:C3021"^^xsd:string, "OMIM:600669"^^xsd:string, "SNOMEDCT_US_2021_03_01:155043003"^^xsd:string, "UMLS_CUI:C0014548"^^xsd:string ; oboInOwl:hasExactSynonym "Generalised epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1827"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "idiopathic generalized epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_1829 oboInOwl:hasDbXref "ICD9CM:598.8"^^xsd:string, "UMLS_CUI:C0029752"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1829"^^xsd:string ; a owl:Class ; rdfs:label "urethral stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_12577 ; skos:exactMatch "MESH:D14525"^^xsd:string . obo:DOID_1832 oboInOwl:hasAlternativeId "DOID:13012"^^xsd:string, "DOID:1831"^^xsd:string ; oboInOwl:hasExactSynonym "Mild hyperemesis gravidarum, antepartum"@en, "Mild hyperemesis gravidarum, delivered"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1832"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mild hyperemesis gravidarum"^^xsd:string ; owl:deprecated true . obo:DOID_1835 oboInOwl:hasDbXref "GARD:7056"^^xsd:string, "ICD10CM:G58.7"^^xsd:string, "ICD9CM:354.5"^^xsd:string, "MESH:D020422"^^xsd:string, "NCI:C70938"^^xsd:string, "SNOMEDCT_US_2021_03_01:30292005"^^xsd:string, "UMLS_CUI:C0151295"^^xsd:string ; oboInOwl:hasExactSynonym "Mononeuritis multiplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1835"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mononeuritis multiplex"^^xsd:string ; rdfs:subClassOf obo:DOID_572 . obo:DOID_1837 obo:IAO_0000115 "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:250.1"^^xsd:string, "MESH:D016883"^^xsd:string, "NCI:C50530"^^xsd:string, "OMIM:612227"^^xsd:string, "SNOMEDCT_US_2021_03_01:154671004"^^xsd:string, "UMLS_CUI:C0011880"^^xsd:string ; oboInOwl:hasExactSynonym "DIABETES MELLITUS, KETOSIS-PRONE"@en, "ketosis-prone diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1837"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "diabetic ketoacidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050758 . obo:DOID_1838 oboInOwl:hasDbXref "GARD:1521"^^xsd:string, "MESH:D007706"^^xsd:string, "NCI:C75486"^^xsd:string, "OMIM:309400"^^xsd:string, "SNOMEDCT_US_2021_03_01:59178007"^^xsd:string, "UMLS_CUI:C0022716"^^xsd:string ; oboInOwl:hasExactSynonym "COPPER TRANSPORT DISEASE"@en, "Menkes kinky-hair syndrome"@en, "steely hair syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1838"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Menkes disease"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_184 obo:IAO_0000115 "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3348"^^xsd:string ; oboInOwl:hasDbXref "MESH:D001859"^^xsd:string, "NCI:C9343"^^xsd:string, "SNOMEDCT_US_2021_03_01:126537000"^^xsd:string, "UMLS_CUI:C0005967"^^xsd:string ; oboInOwl:hasExactSynonym "CA - bone cancer"@en, "bone neoplasm"@en, "bone tumour"@en, "malignant bone neoplasm"@en, "malignant bone tumour"@en, "malignant neoplasm of bone"@en, "malignant osseous tumor"@en, "neoplasm of bone"@en, "osseous tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "bone cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, obo:DOID_201 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ] . obo:DOID_1844 oboInOwl:hasDbXref "ICD9CM:354.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:58850003"^^xsd:string, "UMLS_CUI:C0154746"^^xsd:string ; oboInOwl:hasExactSynonym "Mononeuritis of upper limb"@en, "Mononeuritis upper limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1844"^^xsd:string ; a owl:Class ; rdfs:label "mononeuritis of upper limb"^^xsd:string ; rdfs:subClassOf obo:DOID_572 . obo:DOID_1845 obo:IAO_0000115 "A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1845"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Strongylida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1849 obo:IAO_0000115 "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F12.2"^^xsd:string, "ICD9CM:304.3"^^xsd:string, "MESH:D002189"^^xsd:string, "NCI:C34445"^^xsd:string, "SNOMEDCT_US_2021_03_01:268766005"^^xsd:string, "UMLS_CUI:C0006870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cannabis dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9977 . obo:DOID_1852 obo:IAO_0000115 "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver."^^xsd:string ; oboInOwl:hasDbXref "GARD:10214"^^xsd:string, "MESH:D002780"^^xsd:string, "NCI:C84400"^^xsd:string, "ORDO:284385"^^xsd:string, "SNOMEDCT_US_2021_03_01:4637005"^^xsd:string, "UMLS_CUI:C0008372"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal intrahepatic cholestasis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1852"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "intrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_13580 . obo:DOID_1856 obo:IAO_0000115 "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:6036"^^xsd:string, "ICD10CM:M27.8"^^xsd:string, "MESH:D002636"^^xsd:string, "NCI:C84630"^^xsd:string, "OMIM:118400"^^xsd:string, "SNOMEDCT_US_2021_03_01:76098004"^^xsd:string, "UMLS_CUI:C0008029"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cherubism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1858 obo:IAO_0000115 "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11345"^^xsd:string ; oboInOwl:hasDbXref "GARD:6995"^^xsd:string, "ICD10CM:Q78.1"^^xsd:string, "ICD9CM:756.54"^^xsd:string, "MESH:D005359"^^xsd:string, "NCI:C34610"^^xsd:string, "OMIM:174800"^^xsd:string, "SNOMEDCT_US_2021_03_01:205508003"^^xsd:string, "UMLS_CUI:C0016065"^^xsd:string ; oboInOwl:hasExactSynonym "fibrous dysplasia of bone"@en, "osteitis fibrosa disseminata"@en, "polyostotic fibrous dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1858"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "McCune Albright syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] ; skos:exactMatch "MESH:D005359"^^xsd:string . obo:DOID_1862 obo:IAO_0000115 "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007573"^^xsd:string, "SNOMEDCT_US_2021_03_01:126634001"^^xsd:string, "UMLS_CUI:C0022364"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of jaw"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "jaw neoplasm"@en ; oboInOwl:id "DOID:1862"^^xsd:string ; a owl:Class ; rdfs:label "jaw cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001708 ] ) ] . obo:DOID_1863 oboInOwl:hasDbXref "MESH:D012888"^^xsd:string, "NCI:C3375"^^xsd:string, "SNOMEDCT_US_2021_03_01:126538005"^^xsd:string, "UMLS_CUI:C0037305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1863"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skull cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003129 ] ) ] . obo:DOID_1866 oboInOwl:hasDbXref "ICD10CM:M27.1"^^xsd:string, "ICD9CM:526.3"^^xsd:string, "MESH:D006101"^^xsd:string, "NCI:C173930"^^xsd:string, "SNOMEDCT_US_2021_03_01:15350006"^^xsd:string, "UMLS_CUI:C0162375"^^xsd:string ; oboInOwl:hasExactSynonym "central giant cell (reparative) granuloma"@en, "central giant cell granuloma"@en, "central giant cell reparative granuloma of jaw"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1866"^^xsd:string ; a owl:Class ; rdfs:label "giant cell reparative granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_4305 . obo:DOID_1869 oboInOwl:hasDbXref "ICD10CM:I09.2"^^xsd:string, "ICD9CM:393"^^xsd:string, "SNOMEDCT_US_2021_03_01:194719006"^^xsd:string, "UMLS_CUI:C0155561"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1869"^^xsd:string ; a owl:Class ; rdfs:label "chronic rheumatic pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_1873 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1873"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abortion complicated by metabolic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_1875 oboInOwl:hasDbXref "EFO:0004234"^^xsd:string ; oboInOwl:hasExactSynonym "Sexual impotence"@en, "erectile dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1875"^^xsd:string ; a owl:Class ; rdfs:label "impotence"^^xsd:string ; rdfs:subClassOf obo:DOID_1876 . obo:DOID_1876 oboInOwl:hasDbXref "ICD10CM:F52.9"^^xsd:string, "NCI:C3347"^^xsd:string, "SNOMEDCT_US_2021_03_01:39894007"^^xsd:string, "UMLS_CUI:C0549622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1876"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sexual dysfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_1882 obo:IAO_0000115 "A heart septal defect located_in in the septum that separates the two atria of the heart."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "MESH:D006344"^^xsd:string, "NCI:C84473"^^xsd:string, "OMIM:PS108800"^^xsd:string, "ORDO:1478"^^xsd:string, "SNOMEDCT_US_2021_03_01:156915002"^^xsd:string, "UMLS_CUI:C0018817"^^xsd:string ; oboInOwl:hasExactSynonym "atrial septal defect"@en, "atrioseptal defect"@en, "auricular septal defect"@en, "congenital atrial septal defect"@en, "interatrial septal defect"@en, "interauricular septal defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1882"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "atrial heart septal defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1681 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_114 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002085 ] ) ] . obo:DOID_1883 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12430"^^xsd:string, "DOID:12432"^^xsd:string, "DOID:2049"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003047"^^xsd:string, "ICD10CM:B19.20"^^xsd:string, "ICD9CM:070.7"^^xsd:string, "MESH:D006526"^^xsd:string, "NCI:C3098"^^xsd:string, "SNOMEDCT_US_2021_03_01:154349000"^^xsd:string, "UMLS_CUI:C0019196"^^xsd:string ; oboInOwl:hasExactSynonym "NANBH"@en, "Viral hepatitis C"@en, "chronic hepatitis C"@en, "hepatitis C infection"@en, "hepatitis nonA nonB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1883"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatitis C"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11103 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_1884 obo:IAO_0000115 "A hepatitis that involves viral infection causing inflammation of the liver."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12548"^^xsd:string, "DOID:1331"^^xsd:string, "DOID:1885"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006524"^^xsd:string, "UMLS_CUI:C0019194"^^xsd:string ; oboInOwl:hasExactSynonym "Viral hepatitis with hepatic coma"@en, "animal viral hepatitis"@en, "human viral hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1884"^^xsd:string ; a owl:Class ; rdfs:label "viral hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2237, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_1886 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1886"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Flaviviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1891 obo:IAO_0000115 "A cranial nerve disease that is located_in the optic nerve."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009901"^^xsd:string, "NCI:C79698"^^xsd:string, "SNOMEDCT_US_2021_03_01:77157004"^^xsd:string, "UMLS_CUI:C0029132"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of the second nerve"@en, "optic nerve disorder"@en, "optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1891"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ] ) ] . obo:DOID_1893 oboInOwl:hasDbXref "ICD10CM:H01.13"^^xsd:string, "ICD9CM:373.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:36259009"^^xsd:string, "UMLS_CUI:C0155177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1893"^^xsd:string ; a owl:Class ; rdfs:label "eczematous dermatitis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_1894 . obo:DOID_1894 oboInOwl:hasDbXref "ICD10CM:H01.1"^^xsd:string, "ICD9CM:373.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:111524003"^^xsd:string, "UMLS_CUI:C0155176"^^xsd:string ; oboInOwl:hasExactSynonym "Non-infected eyelid dermatoses"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1894"^^xsd:string ; a owl:Class ; rdfs:label "noninfectious dermatoses of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_1895 obo:IAO_0000115 "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:373.32"^^xsd:string, "SNOMEDCT_US_2021_03_01:402249007"^^xsd:string, "UMLS_CUI:C0155178"^^xsd:string ; oboInOwl:hasExactSynonym "Contact and allergic dermatitis of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1895"^^xsd:string ; a owl:Class ; rdfs:label "allergic contact dermatitis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_1894, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_1896 oboInOwl:hasDbXref "MESH:D012811"^^xsd:string, "SNOMEDCT_US_2021_03_01:254581007"^^xsd:string, "UMLS_CUI:C0037073"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of sigmoid colon"@en, "tumor of sigmoid colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1896"^^xsd:string ; a owl:Class ; rdfs:label "sigmoid neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_235 . obo:DOID_1897 oboInOwl:hasDbXref "MESH:D012810"^^xsd:string, "UMLS_CUI:C0037072"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1897"^^xsd:string ; a owl:Class ; rdfs:label "sigmoid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_1901 obo:IAO_0000115 "A vaginal cancer that has_material_basis in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7737"^^xsd:string, "UMLS_CUI:C0238519"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1901"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagina sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_119, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] . obo:DOID_1906 oboInOwl:hasDbXref "NCI:C5576"^^xsd:string, "SNOMEDCT_US_2021_03_01:404014008"^^xsd:string, "UMLS_CUI:C1275254"^^xsd:string ; oboInOwl:hasExactSynonym "malignant fibrous histiocytoma of skin"@en, "vaginal melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1906"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant skin fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5274 . obo:DOID_1907 oboInOwl:hasDbXref "MESH:D051677"^^xsd:string, "NCI:C4247"^^xsd:string, "SNOMEDCT_US_2021_03_01:34360000"^^xsd:string, "UMLS_CUI:C0334463"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroxanthosarcoma"@en, "MFH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1907"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_1908 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1908"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous fibrohistiocytic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1909 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000756"^^xsd:string, "ICDO:8720/3"^^xsd:string, "KEGG:05218"^^xsd:string, "MESH:D008545"^^xsd:string, "NCI:C3224"^^xsd:string, "SNOMEDCT_US_2021_03_01:2092003"^^xsd:string, "UMLS_CUI:C0025202"^^xsd:string ; oboInOwl:hasExactSynonym "Naevocarcinoma"@en, "malignant melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1909"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ] ) ] ; skos:exactMatch "MESH:D008545"^^xsd:string . obo:DOID_1910 obo:IAO_0000115 "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6379"^^xsd:string, "UMLS_CUI:C1336945"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal Yolk Sac neoplasm"@en, "vaginal endodermal sinus neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1910"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_119 . obo:DOID_1911 obo:IAO_0000115 "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9071/3"^^xsd:string, "MESH:D018240"^^xsd:string, "NCI:C3011"^^xsd:string, "SNOMEDCT_US_2021_03_01:74409009"^^xsd:string, "UMLS_CUI:C0014145"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatoid yolk sac tumour"@en, "Yolk Sac neoplasm"@en, "Yolk sac tumor"@en, "Yolk sac tumour"@en, "endodermal sinus tumour"@en, "infantile embryonal carcinoma"@en, "yolk sac tumor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1911"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2994 . obo:DOID_1912 oboInOwl:hasExactSynonym "secondary malignant neoplasm of vagina (disorder)"@en, "secondary tumor to the vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1912"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to vagina"^^xsd:string ; owl:deprecated true . obo:DOID_1913 oboInOwl:hasExactSynonym "Alternating exotropia with A pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1913"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alternating exotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_1919 oboInOwl:hasDbXref "ICD10CM:E79.1"^^xsd:string, "MESH:D007926"^^xsd:string, "NCI:C61255"^^xsd:string, "OMIM:300322"^^xsd:string, "SNOMEDCT_US_2021_03_01:190918000"^^xsd:string, "UMLS_CUI:C0023374"^^xsd:string ; oboInOwl:hasExactSynonym "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency"@en, "HG-PRT deficiency"@en, "Hypoxanthine-guanine phosphoribosyltransferase deficiency"@en, "Hypoxanthine-guanine-phosphoribosyltransferase deficiency"@en, "Lesch - Nyhan syndrome"@en, "X-linked hyperuricemia"@en, "deficiency of IMP pyrophosphorylase"@en, "hypoxanthine guanine phosphoribosyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1919"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Lesch-Nyhan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_653, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_192 obo:IAO_0000115 "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12293"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018312"^^xsd:string, "NCI:C3794"^^xsd:string, "SNOMEDCT_US_2021_03_01:253028001"^^xsd:string, "UMLS_CUI:C0206724"^^xsd:string ; oboInOwl:hasExactSynonym "Sex Cord-Stromal neoplasm"@en, "Sex cord stromal tumour"@en, "Specialized gonadal neoplasm"@en, "Specialized gonadal tumor"@en, "Specialized gonadal tumour"@en, "sex cord-gonadal stromal tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sex cord-gonadal stromal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_193 . obo:DOID_1920 obo:IAO_0000115 "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood."^^xsd:string ; oboInOwl:hasDbXref "MESH:D033461"^^xsd:string, "NCI:C3961"^^xsd:string, "SNOMEDCT_US_2021_03_01:271198001"^^xsd:string, "UMLS_CUI:C0740394"^^xsd:string ; oboInOwl:hasExactSynonym "Blood urate raized"@en, "uricacidemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1920"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperuricemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_1921 obo:IAO_0000115 "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men."^^xsd:string ; oboInOwl:hasDbXref "GARD:8705"^^xsd:string, "ICD10CM:Q98.0"^^xsd:string, "ICD9CM:758.7"^^xsd:string, "MESH:D007713"^^xsd:string, "NCI:C34752"^^xsd:string, "SNOMEDCT_US_2021_03_01:405770005"^^xsd:string, "UMLS_CUI:C0022735"^^xsd:string ; oboInOwl:hasExactSynonym "47, XXY"^^xsd:string, "Hypogonadotropic Hypogonadism"@en, "Klinefelter's syndrome"@en, "XXY syndrome"@en, "XXY trisomy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1921"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "No OMIM mapping, confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Klinefelter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_1922 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1922"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endocrine syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_1923 obo:IAO_0000115 "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012734"^^xsd:string, "UMLS_CUI:C0036875"^^xsd:string ; oboInOwl:hasExactSynonym "sex development disorder"^^xsd:string, "sex differentiation disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1923"^^xsd:string ; a owl:Class ; rdfs:label "disorder of sexual development"^^xsd:string ; rdfs:subClassOf obo:DOID_2277 . obo:DOID_1924 obo:IAO_0000115 "A gonadal disease that is characterized by diminished functional activity of the gonads."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007006"^^xsd:string, "NCI:C9227"^^xsd:string, "OMIM:241100"^^xsd:string, "OMIM:312300"^^xsd:string, "SNOMEDCT_US_2021_03_01:48130008"^^xsd:string, "UMLS_CUI:C0020619"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1924"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_2277 . obo:DOID_1925 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails."^^xsd:string ; oboInOwl:hasDbXref "GARD:6124"^^xsd:string, "MESH:C536436"^^xsd:string, "NCI:C35321"^^xsd:string, "OMIM:PS135900"^^xsd:string, "ORDO:1465"^^xsd:string, "SNOMEDCT_US_2021_03_01:10007009"^^xsd:string, "UMLS_CUI:C0265338"^^xsd:string ; oboInOwl:hasExactSynonym "Dwarfism-Onychodysplasia"@en, "Fifth Digit Syndrome"@en, "Short Stature-Onychodysplasia."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1925"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Coffin-Siris syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307, obo:DOID_225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006052 ] ) ] . obo:DOID_1926 obo:IAO_0000115 "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver."^^xsd:string ; oboInOwl:hasDbXref "GARD:8233"^^xsd:string, "ICD10CM:E75.22"^^xsd:string, "MESH:D005776"^^xsd:string, "NCI:C61268"^^xsd:string, "ORDO:355"^^xsd:string, "SNOMEDCT_US_2021_03_01:190794006"^^xsd:string, "UMLS_CUI:C0017205"^^xsd:string ; oboInOwl:hasExactSynonym "Gaucher disease"@en, "acid beta-glucosidase deficiency"@en, "glocucerebrosidase deficiency"@en, "glucosylceramide beta-glucosidase deficiency"@en, "kerasin thesaurismosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1926"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Gaucher's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_1927 obo:IAO_0000115 "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates."^^xsd:string ; oboInOwl:hasDbXref "GARD:7672"^^xsd:string, "ICD10CM:E75.3"^^xsd:string, "MESH:D013106"^^xsd:string, "NCI:C117254"^^xsd:string, "SNOMEDCT_US_2021_03_01:58459009"^^xsd:string, "UMLS_CUI:C0037899"^^xsd:string ; oboInOwl:hasExactSynonym "Sphingolipidosis"@en, "sphingolipidoses"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1927"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphingolipidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_1928 obo:IAO_0000115 "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.82"^^xsd:string, "MESH:D018980"^^xsd:string, "NCI:C85232"^^xsd:string, "OMIM:194050"^^xsd:string, "SNOMEDCT_US_2021_03_01:63247009"^^xsd:string, "UMLS_CUI:C0175702"^^xsd:string ; oboInOwl:hasExactSynonym "Fanconi Schlesinger syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1928"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Williams-Beuren syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1929 obo:IAO_0000115 "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart."^^xsd:string ; oboInOwl:hasDbXref "GARD:743"^^xsd:string, "ICD10CM:Q25.3"^^xsd:string, "MESH:D021921"^^xsd:string, "NCI:C85176"^^xsd:string, "OMIM:185500"^^xsd:string, "SNOMEDCT_US_2021_03_01:204436002"^^xsd:string, "UMLS_CUI:C0003499"^^xsd:string ; oboInOwl:hasExactSynonym "Supra-valvular aortic stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supravalvular aortic stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1712 . obo:DOID_193 obo:IAO_0000115 "An organ system cancer that is manifested in the reproductive organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1900"^^xsd:string ; oboInOwl:hasDbXref "NCI:C3674"^^xsd:string, "UMLS_CUI:C0178830"^^xsd:string ; oboInOwl:hasExactSynonym "Reproductive tumor"@en, "malignant reproductive system neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of reproductive system"@en ; oboInOwl:id "DOID:193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reproductive organ cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_15 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000990 ] ) ] . obo:DOID_1930 obo:IAO_0000115 "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12635"^^xsd:string, "MEDDRA:10056710"^^xsd:string, "MESH:D007849"^^xsd:string, "NCI:C34760"^^xsd:string, "OMIM:245800"^^xsd:string, "ORDO:2377"^^xsd:string, "SNOMEDCT_US_2021_03_01:232059000"^^xsd:string, "UMLS_CUI:C0023138"^^xsd:string ; oboInOwl:hasExactSynonym "LNMS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Laurence-Moon-Biedl syndrome"@en ; oboInOwl:id "DOID:1930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Laurence-Moon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_1931 oboInOwl:hasDbXref "MESH:D007027"^^xsd:string, "SNOMEDCT_US_2021_03_01:88108008"^^xsd:string, "UMLS_CUI:C0020655"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1931"^^xsd:string ; a owl:Class ; rdfs:label "hypothalamic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4662 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4662 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001898 ] ) ] . obo:DOID_1932 obo:IAO_0000115 "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance."^^xsd:string ; oboInOwl:hasDbXref "GARD:5810"^^xsd:string, "ICD10CM:Q93.51"^^xsd:string, "MESH:D017204"^^xsd:string, "NCI:C75462"^^xsd:string, "OMIM:105830"^^xsd:string, "SNOMEDCT_US_2021_03_01:76880004"^^xsd:string, "UMLS_CUI:C0162635"^^xsd:string ; oboInOwl:hasExactSynonym "happy puppet syndrome"@en, "puppetlike syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1932"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Angelman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Class ; owl:unionOf ([ a owl:Class ; owl:intersectionOf (obo:SO_0000135 obo:SO_0002054 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0001746 obo:SO_0002054 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 [ a owl:Restriction ; owl:onClass obo:SO_0000704 ; owl:onProperty obo:RO_0004026 ; owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ] ) ] [ a owl:Restriction ; owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ; owl:onClass [ a owl:Class ; owl:intersectionOf (obo:SO_0001775 obo:SO_0002054 obo:SO_1000029 ) ] ; owl:onProperty obo:IDO_0000664 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0002054 ] ; skos:exactMatch "MESH:D017204"^^xsd:string . obo:DOID_1933 obo:IAO_0000115 "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:7593"^^xsd:string, "ICD10CM:Q87.2"^^xsd:string, "MESH:D012415"^^xsd:string, "NCI:C75466"^^xsd:string, "OMIM:180849"^^xsd:string, "OMIM:610543"^^xsd:string, "OMIM:613684"^^xsd:string, "ORDO:783"^^xsd:string, "SNOMEDCT_US_2021_03_01:157032007"^^xsd:string, "UMLS_CUI:C0035934"^^xsd:string ; oboInOwl:hasExactSynonym "Broad Thumb-Hallux syndrome"@en, "Rubinstein syndrome"@en, "proximal chromosome 16p13.3 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1933"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Rubinstein-Taybi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1934 obo:IAO_0000115 "A bone development disease that results in defective ossification of located in bone."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004413"^^xsd:string, "NCI:C34560"^^xsd:string, "SNOMEDCT_US_2021_03_01:109420003"^^xsd:string, "UMLS_CUI:C0013393"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_1935 obo:IAO_0000115 "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases."^^xsd:string ; oboInOwl:hasDbXref "GARD:6866"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "MESH:D020788"^^xsd:string, "NCI:C118632"^^xsd:string, "OMIM:PS209900"^^xsd:string, "ORDO:110"^^xsd:string, "SNOMEDCT_US_2021_03_01:5619004"^^xsd:string, "UMLS_CUI:C0752166"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1935"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bardet-Biedl syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_1936 oboInOwl:hasDbXref "EFO:0003914"^^xsd:string, "ICD10CM:I70"^^xsd:string, "ICD9CM:440"^^xsd:string, "MESH:D050197"^^xsd:string, "NCI:C35768"^^xsd:string, "SNOMEDCT_US_2021_03_01:155414001"^^xsd:string, "UMLS_CUI:C0004153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1936"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2348 ; skos:exactMatch "MESH:D050197"^^xsd:string . obo:DOID_1938 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1938"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Bacillaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_194 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:194"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gonadal tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1941 oboInOwl:hasExactSynonym "Alternating intermittent exotropia (disorder)"@en, "Intermittent alternating exotropia (disorder)"@en, "Intermittent exotropia, alternating"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1941"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent alternating exotropia"^^xsd:string ; owl:deprecated true . obo:DOID_1942 oboInOwl:hasDbXref "ICD10CM:H50.3"^^xsd:string, "ICD9CM:378.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:74025007"^^xsd:string, "UMLS_CUI:C0152210"^^xsd:string ; oboInOwl:hasExactSynonym "Intermittent heterotropia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1942"^^xsd:string ; a owl:Class ; rdfs:label "intermittent squint"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_1943 oboInOwl:hasDbXref "ICD10CM:L65.0"^^xsd:string, "ICD9CM:704.02"^^xsd:string, "NCI:C112200"^^xsd:string, "SNOMEDCT_US_2021_03_01:201147004"^^xsd:string, "UMLS_CUI:C0263518"^^xsd:string ; oboInOwl:hasExactSynonym "Telogen effluvium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1943"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "telogen effluvium"^^xsd:string ; rdfs:subClassOf obo:DOID_987 . obo:DOID_1947 obo:IAO_0000115 "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10996"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A59"^^xsd:string, "ICD9CM:131"^^xsd:string, "MEDDRA:10044620"^^xsd:string, "MESH:D014245"^^xsd:string, "NCI:C35720"^^xsd:string, "SNOMEDCT_US_2021_03_01:56335008"^^xsd:string, "UMLS_CUI:C0040921"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "trichomonas infection"@en ; oboInOwl:id "DOID:1947"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trichomoniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5721 ] . obo:DOID_1949 obo:IAO_0000115 "A cholangitis that is characterized by an inflammation that is located in the gallbladder."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1948"^^xsd:string, "DOID:2829"^^xsd:string, "DOID:9438"^^xsd:string ; oboInOwl:hasDbXref "GARD:30"^^xsd:string, "ICD10CM:K81"^^xsd:string, "ICD9CM:575.10"^^xsd:string, "MESH:D002764"^^xsd:string, "NCI:C34465"^^xsd:string, "OMIM:600803"^^xsd:string, "SNOMEDCT_US_2021_03_01:76581006"^^xsd:string, "UMLS_CUI:C0008325"^^xsd:string ; oboInOwl:hasExactSynonym "acute and chronic cholecystitis"@en, "acute cholecystitis"@en, "acute on chronic cholecystitis"@en, "chronic cholecystitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cholecystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_195 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:195"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reproductive endocrine cancer"^^xsd:string ; owl:deprecated true . obo:DOID_1954 oboInOwl:hasExactSynonym "benign hypertensive heart disease (disorder)"@en, "benign hypertensive heart disease NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1954"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign hypertensive heart disease"^^xsd:string ; owl:deprecated true . obo:DOID_196 oboInOwl:hasExactSynonym "acinar cell neoplasm"@en, "acinar cell neoplasm (morphologic abnormality)"@en, "acinar cell neoplasm NOS (morphologic abnormality)"@en, "acinar cell tumor (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:196"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acinar cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1962 obo:IAO_0000115 "A female reproductive system disease that is located_in the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005184"^^xsd:string, "NCI:C26771"^^xsd:string, "SNOMEDCT_US_2021_03_01:128134005"^^xsd:string, "UMLS_CUI:C0015556"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1962"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_1963 obo:IAO_0000115 "A fallopian tube cancer that is located_in the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005185"^^xsd:string, "NCI:C3867"^^xsd:string, "SNOMEDCT_US_2021_03_01:276870001"^^xsd:string, "UMLS_CUI:C0238122"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of the fallopian tube"@en, "carcinoma of fallopian tube"@en, "fallopian tube Ca"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1963"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1964, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_1964 obo:IAO_0000115 "A female reproductive organ cancer that is located_in fallopian tube."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1961"^^xsd:string ; oboInOwl:hasDbXref "GARD:9162"^^xsd:string, "ICD10CM:C57.0"^^xsd:string, "ICD9CM:183.2"^^xsd:string, "MESH:D005185"^^xsd:string, "NCI:C3032"^^xsd:string, "NCI:C7480"^^xsd:string, "SNOMEDCT_US_2021_03_01:126916003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93794008"^^xsd:string, "UMLS_CUI:C0015558"^^xsd:string, "UMLS_CUI:C0153579"^^xsd:string ; oboInOwl:hasExactSynonym "fallopian tube neoplasm"@en, "malignant neoplasm of uterine tube"@en, "malignant tumor of fallopian tube"@en, "malignant tumour of fallopian tube"@en, "neoplasm of fallopian tube"@en, "tumor of the fallopian tube"@en, "tumor, fallopian tube, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1964"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "fallopian tube cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_1962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_1965 obo:IAO_0000115 "A fallopian tube cancer that dervies_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40128"^^xsd:string, "UMLS_CUI:C1517116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1965"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1964, obo:DOID_1967 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1967 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_1966 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1966"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fallopian tube soft tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1967 obo:IAO_0000115 "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis."^^xsd:string ; oboInOwl:hasDbXref "GARD:6880"^^xsd:string, "MESH:D007890"^^xsd:string, "NCI:C3158"^^xsd:string, "SNOMEDCT_US_2021_03_01:443719001"^^xsd:string, "UMLS_CUI:C0023269"^^xsd:string ; oboInOwl:hasExactSynonym "Leiomyosarcomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1967"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4230 . obo:DOID_1969 obo:IAO_0000115 "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1968"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G80"^^xsd:string, "MESH:D002547"^^xsd:string, "NCI:C34460"^^xsd:string, "SNOMEDCT_US_2021_03_01:155024003"^^xsd:string, "UMLS_CUI:C0007789"^^xsd:string ; oboInOwl:hasExactSynonym "infantile cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1969"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_197 oboInOwl:hasExactSynonym "glandular cell Epithelium neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:197"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glandular cell epithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1970 obo:IAO_0000115 "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40124"^^xsd:string, "UMLS_CUI:C1517117"^^xsd:string ; oboInOwl:hasExactSynonym "fallopian tube malignant mixed Mullerian tumor"@en, "fallopian tube malignant mixed mesodermal (mullerian) tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1970"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1964, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] . obo:DOID_1973 obo:IAO_0000115 "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40125"^^xsd:string, "UMLS_CUI:C1517121"^^xsd:string ; oboInOwl:hasExactSynonym "fallopian tube mullerian adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1973"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1970 . obo:DOID_1974 obo:IAO_0000115 "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018195"^^xsd:string, "NCI:C9474"^^xsd:string, "SNOMEDCT_US_2021_03_01:189804002"^^xsd:string, "UMLS_CUI:C0001442"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosarcoma"@en, "mullerian Adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1974"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4236 ; skos:exactMatch "MESH:D018195"^^xsd:string . obo:DOID_1975 obo:IAO_0000115 "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6452"^^xsd:string, "SNOMEDCT_US_2021_03_01:447137005"^^xsd:string, "UMLS_CUI:C1336744"^^xsd:string ; oboInOwl:hasExactSynonym "Thymolipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1975"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_0060092, obo:DOID_3315, obo:DOID_533, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_1977 oboInOwl:hasExactSynonym "Lipoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1977"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipoma of the mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_1978 oboInOwl:hasExactSynonym "Focal choroiditis and chorioretinitis, juxtapapillary"@en, "Juxtapapillary focal choroiditis AND chorioretinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete juxtapapillary focal choroiditis and chorioretinitis"^^xsd:string ; owl:deprecated true . obo:DOID_1979 oboInOwl:hasDbXref "ICD10CM:H30.0"^^xsd:string, "ICD9CM:363.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:15847003"^^xsd:string, "UMLS_CUI:C0154870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1979"^^xsd:string ; a owl:Class ; rdfs:label "focal chorioretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8886 . obo:DOID_198 oboInOwl:hasExactSynonym "Mesonephric neoplasm"@en, "Mesonephric neoplasm (morphology)"@en, "Mesonephric tumor (morphologic abnormality)"@en, "Wolffian duct tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:198"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesonephric tumor"^^xsd:string ; owl:deprecated true . obo:DOID_1982 obo:IAO_0000115 "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1982"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rhabdoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1983 obo:IAO_0000115 "A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1983"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mononegavirales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1984 oboInOwl:hasDbXref "MESH:D012004"^^xsd:string, "NCI:C3350"^^xsd:string, "SNOMEDCT_US_2021_03_01:126847008"^^xsd:string, "UMLS_CUI:C0034885"^^xsd:string ; oboInOwl:hasExactSynonym "Rectal tumor"@en, "neoplasm of rectum"@en, "rectum neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1984"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4610 . obo:DOID_1986 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1986"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal disease"^^xsd:string ; owl:deprecated true . obo:DOID_1987 oboInOwl:hasExactSynonym "fetus disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1987"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal disease"^^xsd:string ; owl:deprecated true . obo:DOID_1988 oboInOwl:hasDbXref "NCI:C5553"^^xsd:string, "UMLS_CUI:C1335685"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1988"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1993, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1990 oboInOwl:hasExactSynonym "metastatic tumor to the rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1990"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the rectum"^^xsd:string ; owl:deprecated true . obo:DOID_1991 oboInOwl:hasExactSynonym "metastatic tumor to the large Intestine"@en, "secondary malignant neoplasm of large intestine (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1991"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastases to large Intestine"^^xsd:string ; owl:deprecated true . obo:DOID_1992 oboInOwl:hasDbXref "NCI:C4640"^^xsd:string, "SNOMEDCT_US_2021_03_01:276822007"^^xsd:string, "UMLS_CUI:C0349539"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of rectum"@en, "melanoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1992"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum malignant melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_1993, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] . obo:DOID_1993 obo:IAO_0000115 "A colorectal cancer that is located_in the rectum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1989"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C20"^^xsd:string, "ICD9CM:154.1"^^xsd:string, "MESH:D012004"^^xsd:string, "NCI:C7418"^^xsd:string, "NCI:C9382"^^xsd:string, "SNOMEDCT_US_2021_03_01:254582000"^^xsd:string, "SNOMEDCT_US_2021_03_01:93984006"^^xsd:string, "UMLS_CUI:C0007113"^^xsd:string, "UMLS_CUI:C0949022"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of rectum"@en, "carcinoma of the rectum"@en, "malignant Rectal tumor"@en, "malignant neoplasm of rectum"@en, "malignant rectum tumor"@en, "malignant tumor of rectum"@en, "rectal cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of rectum"@en ; oboInOwl:id "DOID:1993"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "rectum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_9256 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] ) ] . obo:DOID_1995 obo:IAO_0000115 "A sarcoma and malignant tumor of rectum that is located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5548"^^xsd:string, "UMLS_CUI:C1335688"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1995"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_1993, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_1996 obo:IAO_0000115 "A rectum cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9383"^^xsd:string, "SNOMEDCT_US_2021_03_01:254582000"^^xsd:string, "UMLS_CUI:C0149978"^^xsd:string ; oboInOwl:hasExactSynonym "Rectal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1996"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1993, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] . obo:DOID_1998 oboInOwl:hasDbXref "MESH:D008185"^^xsd:string, "SNOMEDCT_US_2021_03_01:204319006"^^xsd:string, "UMLS_CUI:C0024164"^^xsd:string ; oboInOwl:hasExactSynonym "Lutembacher syndrome"@en, "Lutembacher's anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1998"^^xsd:string ; a owl:Class ; rdfs:label "Lutembacher's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_1999 obo:IAO_0000115 "A otosalpingitis which is persistent and long-lasting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H68.02"^^xsd:string, "ICD9CM:381.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:194269002"^^xsd:string, "UMLS_CUI:C0155430"^^xsd:string ; oboInOwl:hasExactSynonym "chronic eustachian tube salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1999"^^xsd:string ; a owl:Class ; rdfs:label "chronic eustachian salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2000 . obo:DOID_200 oboInOwl:hasDbXref "MESH:D005870"^^xsd:string, "NCI:C3055"^^xsd:string, "SNOMEDCT_US_2021_03_01:443790001"^^xsd:string, "UMLS_CUI:C0017525"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign giant cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_2000 obo:IAO_0000115 "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H68.0"^^xsd:string, "ICD9CM:381.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:194266009"^^xsd:string, "UMLS_CUI:C0155428"^^xsd:string ; oboInOwl:hasExactSynonym "Eustachian salpingitis"@en, "Eustachian tube salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2000"^^xsd:string ; a owl:Class ; rdfs:label "otosalpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9739 . obo:DOID_2001 obo:IAO_0000115 "A nervous system benign neoplasm that is characterized as a nerve tissue tumor."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009463"^^xsd:string, "NCI:C3275"^^xsd:string, "SNOMEDCT_US_2021_03_01:25169009"^^xsd:string, "UMLS_CUI:C0027858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060115 . obo:DOID_2005 obo:IAO_0000115 "A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing."^^xsd:string ; oboInOwl:hasExactSynonym "Isolated tracheal or bronchial tuberculosis (disorder)"@en, "Isolated tracheal or bronchial tuberculosis NOS (disorder)"@en, "Isolated tracheal or bronchial tuberculosis, unspecified examination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2005"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tracheal tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_2006 oboInOwl:hasDbXref "ICD9CM:362.56"^^xsd:string, "MESH:D019773"^^xsd:string, "SNOMEDCT_US_2021_03_01:193391002"^^xsd:string, "UMLS_CUI:C0339543"^^xsd:string ; oboInOwl:hasExactSynonym "Macular puckering of retina"@en, "Macular retinal puckering"@en, "cellophane maculopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2006"^^xsd:string ; a owl:Class ; rdfs:label "preretinal fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_2007 oboInOwl:hasDbXref "ICD10CM:H35.3"^^xsd:string, "ICD9CM:362.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:193384000"^^xsd:string, "UMLS_CUI:C0339436"^^xsd:string ; oboInOwl:hasExactSynonym "degeneration of macula and posterior pole of retina"@en, "degeneration of macula or posterior pole"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2007"^^xsd:string ; a owl:Class ; rdfs:label "degeneration of macula and posterior pole"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_201 obo:IAO_0000115 "A musculoskeletal system cancer that is located_in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009372"^^xsd:string, "SNOMEDCT_US_2021_03_01:126598008"^^xsd:string, "UMLS_CUI:C0027656"^^xsd:string ; oboInOwl:hasExactSynonym "Tumour of connective tissue"@en, "connective tissue neoplasm"@en, "mesenchymal tissue malignant neoplasm"^^xsd:string, "neoplasm of connective tissues"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:201"^^xsd:string ; oboInOwl:inSubset doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "connective tissue cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060100, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] ) ] . obo:DOID_2010 oboInOwl:hasExactSynonym "Impaired mobility of ear ossicles, except malleus (disorder)"@en, "Impaired mobility of other ear ossicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2010"^^xsd:string ; a owl:Class ; rdfs:label "obsolete impaired mobility of ear ossicles except malleus"^^xsd:string ; owl:deprecated true . obo:DOID_2012 obo:IAO_0000115 "A T cell deficiency that results from the disfunction or underdevelopment of the thymus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.4"^^xsd:string, "ICD9CM:279.13"^^xsd:string, "OMIM:242700"^^xsd:string, "ORDO:83471"^^xsd:string, "SNOMEDCT_US_2021_03_01:55602000"^^xsd:string, "UMLS_CUI:C0152094"^^xsd:string ; oboInOwl:hasExactSynonym "Nezelof's syndrome"@en, "T-cell immunodeficiency with thymic aplasia"^^xsd:string, "TIDTA"^^xsd:string, "thymic aplasia"@en, "thymic dysplasia with normal immunoglobulins"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2012"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Nezelof syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2014 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2014"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal digestive system disorder"^^xsd:string ; owl:deprecated true . obo:DOID_2018 oboInOwl:hasDbXref "ICD10CM:E16.1"^^xsd:string, "MESH:D006946"^^xsd:string, "SNOMEDCT_US_2021_03_01:154694003"^^xsd:string, "UMLS_CUI:C0020459"^^xsd:string ; oboInOwl:hasExactSynonym "hyperinsulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2018"^^xsd:string ; a owl:Class ; rdfs:label "hyperinsulinism"^^xsd:string ; rdfs:subClassOf obo:DOID_26, obo:DOID_4194, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002368 ] . obo:DOID_2021 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the placenta."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2023"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C58"^^xsd:string, "ICD9CM:181"^^xsd:string, "NCI:C3555"^^xsd:string, "SNOMEDCT_US_2021_03_01:188187004"^^xsd:string, "UMLS_CUI:C0153572"^^xsd:string ; oboInOwl:hasExactSynonym "Placental tumors"@en, "malignant Placental tumor"@en, "malignant neoplasm of placenta"@en, "neoplasm of placenta"@en, "placental cancer"@en, "primary malignant neoplasm of placenta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2021"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placenta cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_363, obo:DOID_780 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001987 ] ) ] . obo:DOID_2022 oboInOwl:hasExactSynonym "metastatic tumor to the Placenta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm to the placenta"^^xsd:string ; owl:deprecated true . obo:DOID_2024 obo:IAO_0000115 "A gestational choriocarcinoma that is located_in the placenta."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8893"^^xsd:string, "SNOMEDCT_US_2021_03_01:448401007"^^xsd:string, "UMLS_CUI:C0855173"^^xsd:string ; oboInOwl:hasExactSynonym "Choriocarcinoma of the Placenta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placental choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2025 . obo:DOID_2025 obo:IAO_0000115 "A choriocarcicoma that develops in the presence of a preceding gestational event."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4646"^^xsd:string, "SNOMEDCT_US_2021_03_01:1884006"^^xsd:string, "UMLS_CUI:C0349557"^^xsd:string ; oboInOwl:hasExactSynonym "Gestational choriocarcinoma"@en, "Gestational chorionepithelioma"@en, "Molar pregnancy with choriocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2025"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gestational choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3594 . obo:DOID_2027 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal or neonatal hemorrhage"^^xsd:string ; owl:deprecated true . obo:DOID_203 obo:IAO_0000115 "A hyperostosis that involves formation of new bone on the surface of preexisting bone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M27.8"^^xsd:string, "ICD9CM:726.91"^^xsd:string, "MESH:D005096"^^xsd:string, "NCI:C3029"^^xsd:string, "SNOMEDCT_US_2021_03_01:80400009"^^xsd:string, "UMLS_CUI:C1442903"^^xsd:string ; oboInOwl:hasExactSynonym "bone spur"@en, "bony outgrowth"@en, "orbital exostosis"@en, "osteophyte"@en, "swimmer's exostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_205 . obo:DOID_2030 obo:IAO_0000115 "A cognitive disorder that involves an excessive, irrational dread of everyday situations."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12884"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F41.9"^^xsd:string, "MESH:D001008"^^xsd:string, "NCI:C2878"^^xsd:string, "OMIM:607834"^^xsd:string, "SNOMEDCT_US_2021_03_01:65673007"^^xsd:string, "UMLS_CUI:C0003469"^^xsd:string ; oboInOwl:hasExactSynonym "anxiety"@en, "anxiety state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2030"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "anxiety disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_2033 obo:IAO_0000115 "A specific developmental disorder that involves specific developmental disorders of speech and language."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.9"^^xsd:string, "MESH:D003147"^^xsd:string, "NCI:C2958"^^xsd:string, "SNOMEDCT_US_2021_03_01:74825008"^^xsd:string, "UMLS_CUI:C0009460"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2033"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "communication disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_2034 obo:IAO_0000115 "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004678"^^xsd:string, "NCI:C98920"^^xsd:string, "SNOMEDCT_US_2021_03_01:58762006"^^xsd:string, "UMLS_CUI:C0014068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2034"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "encephalomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_2038 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete urogenital abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_204 obo:IAO_0000115 "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M77.9"^^xsd:string, "ICD9CM:726.90"^^xsd:string, "MESH:D000070676"^^xsd:string, "SNOMEDCT_US_2021_03_01:278525009"^^xsd:string, "UMLS_CUI:C0242490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:204"^^xsd:string ; a owl:Class ; rdfs:label "enthesopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; skos:exactMatch "MESH:D000070676"^^xsd:string . obo:DOID_2043 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12591"^^xsd:string, "DOID:12592"^^xsd:string, "DOID:2042"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004197"^^xsd:string, "MESH:D006509"^^xsd:string, "NCI:C3097"^^xsd:string, "SNOMEDCT_US_2021_03_01:66071002"^^xsd:string, "UMLS_CUI:C0019163"^^xsd:string ; oboInOwl:hasExactSynonym "chronic hepatitis B"@en, "hepatitis B infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Serum hepatitis"@en ; oboInOwl:id "DOID:2043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "hepatitis B"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10407 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 obo:TRANS_0000013 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_2044 oboInOwl:hasDbXref "MESH:D056487"^^xsd:string, "SNOMEDCT_US_2021_03_01:235889003"^^xsd:string, "UMLS_CUI:C0524912"^^xsd:string ; oboInOwl:hasExactSynonym "Drug-induced chronic hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2044"^^xsd:string ; a owl:Class ; rdfs:label "drug-induced hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2237 . obo:DOID_2047 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2046"^^xsd:string ; oboInOwl:hasDbXref "MESH:D003699"^^xsd:string, "SNOMEDCT_US_2021_03_01:424460009"^^xsd:string, "UMLS_CUI:C0011226"^^xsd:string ; oboInOwl:hasExactSynonym "delta hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2047"^^xsd:string ; a owl:Class ; rdfs:label "hepatitis D"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10407 obo:NCBITaxon_12475 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] . obo:DOID_2048 obo:IAO_0000115 "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4745"^^xsd:string ; oboInOwl:hasDbXref "GARD:5871"^^xsd:string, "ICD9CM:571.42"^^xsd:string, "MESH:D019693"^^xsd:string, "NCI:C27778"^^xsd:string, "SNOMEDCT_US_2021_03_01:16098491000119109"^^xsd:string, "UMLS_CUI:C0241910"^^xsd:string, "UMLS_CUI:C1332355"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune Hepatitis"@en, "Autoimmune chronic active hepatitis"@en, "Autoimmune hepatitis"@en, "autoimmune hepatitis with centrilobular necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2048"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autoimmune hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ] . obo:DOID_205 obo:IAO_0000115 "A bone remodeling disease that results in an abnormal growth of located in bone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M89.3"^^xsd:string, "MESH:D015576"^^xsd:string, "NCI:C34712"^^xsd:string, "SNOMEDCT_US_2021_03_01:13814009"^^xsd:string, "UMLS_CUI:C0020492"^^xsd:string ; oboInOwl:hasExactSynonym "bone hypertrophy"@en, "hypertrophy of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_2050 obo:IAO_0000115 "A maxillary sinusitis which lasts for less than 4 weeks."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01.0"^^xsd:string, "ICD9CM:461.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:155499007"^^xsd:string, "UMLS_CUI:C0155804"^^xsd:string ; oboInOwl:hasExactSynonym "acute antritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2050"^^xsd:string ; a owl:Class ; rdfs:label "acute maxillary sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2051 . obo:DOID_2051 obo:IAO_0000115 "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.0"^^xsd:string, "MESH:D015523"^^xsd:string, "NCI:C34809"^^xsd:string, "SNOMEDCT_US_2021_03_01:275484005"^^xsd:string, "UMLS_CUI:C0024959"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2051"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_2053 oboInOwl:hasDbXref "NCI:C27549"^^xsd:string, "UMLS_CUI:C1335666"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2053"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reactive cutaneous fibrous lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_2055 obo:IAO_0000115 "An anxiety disorder which results from a traumatic experience that results in psychological trauma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F43.1"^^xsd:string, "ICD9CM:309.81"^^xsd:string, "MESH:D013313"^^xsd:string, "NCI:C3389"^^xsd:string, "SNOMEDCT_US_2021_03_01:192415000"^^xsd:string, "UMLS_CUI:C0038436"^^xsd:string ; oboInOwl:hasExactSynonym "PTSD"^^xsd:string, "traumatic neurosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "post-traumatic stress disorder"@en ; oboInOwl:id "DOID:2055"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "post-traumatic stress disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_2058 obo:IAO_0000115 "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2056"^^xsd:string ; oboInOwl:hasDbXref "GARD:12313"^^xsd:string, "MESH:D002178"^^xsd:string, "NCI:C34444"^^xsd:string, "OMIM:114580"^^xsd:string, "OMIM:212050"^^xsd:string, "OMIM:607644"^^xsd:string, "OMIM:613108"^^xsd:string, "OMIM:613956"^^xsd:string, "OMIM:614162"^^xsd:string, "OMIM:615527"^^xsd:string, "OMIM:616445"^^xsd:string, "ORDO:1334"^^xsd:string, "SNOMEDCT_US_2021_03_01:234568006"^^xsd:string, "UMLS_CUI:C0006845"^^xsd:string ; oboInOwl:hasExactSynonym "chronic Mucocutaneous Candidiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2058"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic mucocutaneous candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1508, obo:DOID_37, obo:DOID_4123, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100699 ] . obo:DOID_2059 obo:IAO_0000115 "A female reproductive system disease that is located_in the vulva."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014845"^^xsd:string, "NCI:C27631"^^xsd:string, "SNOMEDCT_US_2021_03_01:5089007"^^xsd:string, "UMLS_CUI:C0042994"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2059"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_206 obo:IAO_0000115 "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.6"^^xsd:string, "MESH:D005097"^^xsd:string, "NCI:C5183"^^xsd:string, "OMIM:133700"^^xsd:string, "OMIM:133701"^^xsd:string, "OMIM:600209"^^xsd:string, "ORDO:321"^^xsd:string, "SNOMEDCT_US_2021_03_01:254044004"^^xsd:string, "UMLS_CUI:C0015306"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple congenital exostosis"@en, "Multiple exostosis syndromes"@en, "Osteochondromatosis syndrome"@en, "hereditary multiple exostoses 1"@en, "hereditary multiple exostoses 2"@en, "hereditary multiple exostoses 3"@en, "multiple ostechondromas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:206"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hereditary multiple exostoses"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_203, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_2060 obo:IAO_0000115 "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40312"^^xsd:string, "UMLS_CUI:C1520091"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar nodular hidradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_2061 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Eccrine nodular hidradenoma"@en, "nodular hidradenoma"@en ; oboInOwl:id "DOID:2061"^^xsd:string ; a owl:Class ; rdfs:label "nodular hidradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3896 . obo:DOID_2062 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2062"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar tumor of skin appendage origin"^^xsd:string ; owl:deprecated true . obo:DOID_2064 obo:IAO_0000115 "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40311"^^xsd:string, "UMLS_CUI:C1520099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2064"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar syringoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_2065 oboInOwl:hasDbXref "GARD:10547"^^xsd:string, "MESH:D018252"^^xsd:string, "NCI:C3761"^^xsd:string, "OMIM:186600"^^xsd:string, "SNOMEDCT_US_2021_03_01:189051001"^^xsd:string, "UMLS_CUI:C0206673"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2065"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syringoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2664 . obo:DOID_2066 obo:IAO_0000115 "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8596"^^xsd:string, "SNOMEDCT_US_2021_03_01:402841001"^^xsd:string, "UMLS_CUI:C1274281"^^xsd:string ; oboInOwl:hasExactSynonym "Fordyce angiokeratoma of vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2066"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar angiokeratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_2068 oboInOwl:hasDbXref "NCI:C6434"^^xsd:string, "UMLS_CUI:C0220616"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland neoplasm"@en, "tumor of Bartholin's gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2068"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060088 . obo:DOID_2069 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2069"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar acquired melanocytic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2070 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2070"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar melanocytic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2071 oboInOwl:hasDbXref "NCI:C6376"^^xsd:string, "UMLS_CUI:C1336982"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2071"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2072 . obo:DOID_2072 obo:IAO_0000115 "A vulva cancer that has_material_basis in squamous tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40283"^^xsd:string, "UMLS_CUI:C1520097"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar squamous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_2073 oboInOwl:hasDbXref "ICD10CM:P78.0"^^xsd:string, "ICD9CM:777.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:206526009"^^xsd:string, "UMLS_CUI:C0159006"^^xsd:string ; oboInOwl:hasExactSynonym "Perinatal intestinal perforation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2073"^^xsd:string ; a owl:Class ; rdfs:label "perinatal intestinal perforation"^^xsd:string ; rdfs:subClassOf obo:DOID_2074 . obo:DOID_2074 oboInOwl:hasDbXref "ICD9CM:569.83"^^xsd:string, "MESH:D007416"^^xsd:string, "NCI:C39611"^^xsd:string, "SNOMEDCT_US_2021_03_01:56905009"^^xsd:string, "UMLS_CUI:C0021845"^^xsd:string ; oboInOwl:hasExactSynonym "Perforation of intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal perforation"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_2075 obo:IAO_0000115 "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40301"^^xsd:string, "UMLS_CUI:C1510791"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of minor vestibular glands"@en ; oboInOwl:id "DOID:2075"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "minor vestibular glands adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060088, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_2076 obo:IAO_0000115 "A vulva cancer that has_material_basis in glandular tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40292"^^xsd:string, "UMLS_CUI:C1520082"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar glandular tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_2077 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar congenital melanocytic nevus"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_2078 oboInOwl:hasDbXref "NCI:C40302"^^xsd:string, "UMLS_CUI:C1511091"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2078"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroid syringoma of the vulva"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109, obo:DOID_2079, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] . obo:DOID_2079 oboInOwl:hasDbXref "NCI:C4474"^^xsd:string, "SNOMEDCT_US_2021_03_01:254720009"^^xsd:string, "UMLS_CUI:C0346026"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine mixed tumor"@en, "Eccrine mixed tumour"@en, "eccrine mixed tumour of skin"@en, "mixed Eccrine neoplasm of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2079"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine mixed tumor of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_173 . obo:DOID_208 oboInOwl:hasExactSynonym "Familiar neoplastic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:208"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary neoplastic syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_2080 obo:IAO_0000115 "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40314"^^xsd:string, "UMLS_CUI:C1520100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar trichoepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_2083 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2083"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar soft tissue tumor"^^xsd:string ; owl:deprecated true . obo:DOID_2085 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2085"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2086 oboInOwl:hasExactSynonym "Blue naevus"@en, "Blue nevus (morphologic abnormality)"@en, "Blue nevus NOS (morphologic abnormality)"@en, "Blue nevus of skin (disorder)"@en, "Blue skin nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2088 oboInOwl:hasDbXref "ICD10CM:K59.02"^^xsd:string, "ICD9CM:564.02"^^xsd:string, "UMLS_CUI:C0949134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2088"^^xsd:string ; a owl:Class ; rdfs:label "outlet dysfunction constipation"^^xsd:string ; rdfs:subClassOf obo:DOID_2089, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_2089 obo:IAO_0000115 "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K59.0"^^xsd:string, "ICD9CM:564.0"^^xsd:string, "MESH:D003248"^^xsd:string, "NCI:C37930"^^xsd:string, "SNOMEDCT_US_2021_03_01:363693003"^^xsd:string, "UMLS_CUI:C0009806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2089"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "constipation"^^xsd:string ; rdfs:subClassOf obo:DOID_9779 . obo:DOID_2092 oboInOwl:hasDbXref "ICD10CM:M12.8"^^xsd:string, "ICD9CM:716.4"^^xsd:string, "NCI:C35761"^^xsd:string, "SNOMEDCT_US_2021_03_01:66191007"^^xsd:string, "UMLS_CUI:C0152083"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2092"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_2093 obo:IAO_0000115 "A vulva cancer that has_material_basis in melanocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40329"^^xsd:string, "SNOMEDCT_US_2021_03_01:254896002"^^xsd:string, "UMLS_CUI:C0241989"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2093"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_2094 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2094"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar sweat gland cancer"^^xsd:string ; owl:deprecated true . obo:DOID_2095 oboInOwl:hasDbXref "ICD10CM:C44"^^xsd:string, "NCI:C4810"^^xsd:string, "SNOMEDCT_US_2021_03_01:255095005"^^xsd:string, "UMLS_CUI:C1321904"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of sweat gland"@en, "malignant tumor of the Sweat gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2095"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sweat gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1383, obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001820 ] ) ] . obo:DOID_2096 obo:IAO_0000115 "A vulva cancer that has_material_basis in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40317"^^xsd:string, "SNOMEDCT_US_2021_03_01:254897006"^^xsd:string, "UMLS_CUI:C0238525"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2096"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_2097 obo:IAO_0000115 "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4027"^^xsd:string, "SNOMEDCT_US_2021_03_01:254898001"^^xsd:string, "UMLS_CUI:C1275217"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of vulva"@en, "Vulval Paget's disease"@en, "Vulvar Paget's disease"@en, "vulval Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2097"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulval Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2098 . obo:DOID_2098 obo:IAO_0000115 "A vulva carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6380"^^xsd:string, "UMLS_CUI:C1336975"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of Vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the vulva"@en ; oboInOwl:id "DOID:2098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_2099 oboInOwl:hasExactSynonym "Extramammary Paget's disease (morphologic abnormality)"@en, "Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality)"@en, "extramammary Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2099"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete extramammary Paget's disease"^^xsd:string ; owl:deprecated true . obo:DOID_210 obo:IAO_0000115 "An exostosis that results_in an abnormal growth located_in calcaneus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M77.3"^^xsd:string, "ICD9CM:726.73"^^xsd:string, "MESH:D036982"^^xsd:string, "SNOMEDCT_US_2021_03_01:156663001"^^xsd:string, "UMLS_CUI:C0158322"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Calcaneal spur"@en ; oboInOwl:id "DOID:210"^^xsd:string ; a owl:Class ; rdfs:label "heel spur"^^xsd:string ; rdfs:subClassOf obo:DOID_203 . obo:DOID_2100 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2100"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_2101 obo:IAO_0000115 "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4052"^^xsd:string, "SNOMEDCT_US_2021_03_01:254895003"^^xsd:string, "UMLS_CUI:C0280856"^^xsd:string ; oboInOwl:hasExactSynonym "Vulvar Epidermoid carcinoma"@en, "vulvar squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of vulva"@en ; oboInOwl:id "DOID:2101"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] . obo:DOID_2106 obo:IAO_0000115 "A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres."^^xsd:string ; oboInOwl:hasDbXref "GARD:12301"^^xsd:string, "ICD9CM:359.22"^^xsd:string, "MESH:D009224"^^xsd:string, "NCI:C84912"^^xsd:string, "OMIM:160800"^^xsd:string, "OMIM:255700"^^xsd:string, "ORDO:614"^^xsd:string, "UMLS_CUI:C0027127"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital myotonia, autosomal dominant form"@en, "Thomsen disease"@en, "Thomsen's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2106"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myotonia congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_2108 obo:IAO_0000115 "An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transplant-related disease"^^xsd:string ; owl:deprecated true . obo:DOID_211 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:211"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ankle or tarsus enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_2112 obo:IAO_0000115 "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4891"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A07.3"^^xsd:string, "MESH:D021865"^^xsd:string, "NCI:C4076"^^xsd:string, "SNOMEDCT_US_2021_03_01:73034009"^^xsd:string, "UMLS_CUI:C0311386"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Isospora belli and Isospora hominis"@en, "Isosporosis"@en, "isosporiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystoisosporiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_2113 obo:IAO_0000115 "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003048"^^xsd:string, "NCI:C34493"^^xsd:string, "SNOMEDCT_US_2021_03_01:186125004"^^xsd:string, "UMLS_CUI:C0009187"^^xsd:string ; oboInOwl:hasExactSynonym "Coccidiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "intestinal coccidiosis"@en ; oboInOwl:id "DOID:2113"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "coccidiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789 . obo:DOID_2115 obo:IAO_0000115 "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6026"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:279.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:190982008"^^xsd:string, "UMLS_CUI:C0154276"^^xsd:string ; oboInOwl:hasExactSynonym "B cell (antibody) deficiencies"@en, "Immunoglobulin heavy chain deficiency"@en, "immunoglobulin heavy chain deletion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2115"^^xsd:string ; a owl:Class ; rdfs:label "B cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_2120 obo:IAO_0000115 "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:6457"^^xsd:string, "MESH:D005489"^^xsd:string, "NCI:C84715"^^xsd:string, "OMIM:305600"^^xsd:string, "ORDO:2092"^^xsd:string, "SNOMEDCT_US_2021_03_01:205573006"^^xsd:string, "UMLS_CUI:C0016395"^^xsd:string ; oboInOwl:hasExactSynonym "FDH"@en, "FODH"@en, "Goltz syndrome"@en, "Goltz-Gorlin syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2120"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "focal dermal hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_2121 obo:IAO_0000115 "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings."^^xsd:string ; oboInOwl:hasDbXref "GARD:6317"^^xsd:string, "ICD9CM:757.31"^^xsd:string, "MESH:D004476"^^xsd:string, "NCI:C84683"^^xsd:string, "OMIM:PS305100"^^xsd:string, "ORDO:79373"^^xsd:string, "SNOMEDCT_US_2021_03_01:8654005"^^xsd:string, "UMLS_CUI:C0013575"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital ectodermal defect"@en, "Congenital ectodermal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2121"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_2122 obo:IAO_0000115 "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A21.2"^^xsd:string, "ICD9CM:021.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:186297007"^^xsd:string, "UMLS_CUI:C0339946"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonic tularaemia"@en, "bronchopneumonic tularemia"@en, "pulmonary tularemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2122"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "pneumonic tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_2123 obo:IAO_0000115 "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues."^^xsd:string ; oboInOwl:hasDbXref "GARD:396"^^xsd:string, "ICD9CM:021.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:186298002"^^xsd:string, "UMLS_CUI:C0029835"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2123"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_263 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_27458 obo:NCBITaxon_34621 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000014 obo:TRANS_0000020 obo:TRANS_0000024 ) ] ] . obo:DOID_2124 oboInOwl:hasAlternativeId "DOID:1320"^^xsd:string ; oboInOwl:hasExactSynonym "intracranial central nervous system tumors"@en, "intracranial tumor (disorder)"@en, "intracranial tumors, malignant"@en, "malignant intracranial neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2124"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intracranial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2127 obo:IAO_0000115 "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6284"^^xsd:string, "UMLS_CUI:C1332606"^^xsd:string ; oboInOwl:hasExactSynonym "germinoma of the brain"@en, "intracranial germinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_2994, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_2128 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2128"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intracranial germinoma"^^xsd:string ; owl:deprecated true . obo:DOID_2129 obo:IAO_0000115 "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6906"^^xsd:string, "OMIM:609322"^^xsd:string, "ORDO:99966"^^xsd:string, "SNOMEDCT_US_2021_03_01:128792003"^^xsd:string, "UMLS_CUI:C1266184"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical teratoid/rhabdoid tumor"@en, "Atypical teratoid/rhabdoid tumour"@en, "Rhabdoid tumor of the CNS"@en, "Rhabdoid tumour of the CNS"@en, "atypical teratoid rhabdoid tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "AT/RT"@en, "rhabdoid tumor predisposition syndrome"@en ; oboInOwl:id "DOID:2129"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "atypical teratoid rhabdoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_2131 oboInOwl:hasExactSynonym "malignant pediatric tumor of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2131"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood malignant central nervous system neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2132 obo:IAO_0000115 "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5154"^^xsd:string, "UMLS_CUI:C1332607"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_2133 obo:IAO_0000115 "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5153"^^xsd:string, "UMLS_CUI:C1332892"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2133"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_3620, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] ) ] . obo:DOID_2135 oboInOwl:hasAlternativeId "DOID:2134"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.2"^^xsd:string, "ICD9CM:191.2"^^xsd:string, "NCI:C5567"^^xsd:string, "SNOMEDCT_US_2021_03_01:126955002"^^xsd:string, "SNOMEDCT_US_2021_03_01:94086000"^^xsd:string, "UMLS_CUI:C0153636"^^xsd:string, "UMLS_CUI:C1263887"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of temporal lobe"@en, "neoplasm of temporal lobe"@en, "tumor of Temporal Lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2135"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "temporal lobe neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001871 ] ) ] . obo:DOID_2139 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:126884005"^^xsd:string, "UMLS_CUI:C0341766"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of paraurethral glands"@en, "tumor of the Paraurethral gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2139"^^xsd:string ; a owl:Class ; rdfs:label "paraurethral gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_730, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010145 ] . obo:DOID_214 oboInOwl:hasDbXref "ICD10CM:K03.8"^^xsd:string, "ICD9CM:521.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:197505001"^^xsd:string, "UMLS_CUI:C0029770"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:214"^^xsd:string ; a owl:Class ; rdfs:label "teeth hard tissue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_2140 oboInOwl:hasDbXref "NCI:C5061"^^xsd:string, "UMLS_CUI:C1519826"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral urothelial papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_730 . obo:DOID_2142 obo:IAO_0000115 "An urethral benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6171"^^xsd:string, "UMLS_CUI:C1336888"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2142"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_730, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_2143 obo:IAO_0000115 "An ovarian cancer that derives_from mesothelial tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40444"^^xsd:string, "UMLS_CUI:C1518721"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian malignant mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_2145 obo:IAO_0000115 "An ovarian cancer that is characterized by cystic structure."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3843"^^xsd:string, "UMLS_CUI:C0235770"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2145"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ovarian cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_2146 obo:IAO_0000115 "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8267"^^xsd:string, "SNOMEDCT_US_2021_03_01:423627007"^^xsd:string, "UMLS_CUI:C0280746"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_2394, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_2147 oboInOwl:hasExactSynonym "soft tissue tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2147"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovary soft tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2148 obo:IAO_0000115 "An urogenital tuberculosis that results_in inflammtion located_in ovary."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.17"^^xsd:string, "ICD9CM:016.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:186242002"^^xsd:string, "UMLS_CUI:C0152828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2148"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1100, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_2149 obo:IAO_0000115 "An extrapulmonary tuberculosis that is located_in urogenital system."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.1"^^xsd:string, "ICD9CM:016"^^xsd:string, "MESH:D014401"^^xsd:string, "SNOMEDCT_US_2021_03_01:4445009"^^xsd:string, "UMLS_CUI:C0041333"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Genitourinary tuberculosis"@en ; oboInOwl:id "DOID:2149"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "urogenital tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598 . obo:DOID_2150 obo:IAO_0000115 "An ovarian cancer that arises_from lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40021"^^xsd:string, "UMLS_CUI:C1518720"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2150"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_2394, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_2151 obo:IAO_0000115 "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40026"^^xsd:string, "UMLS_CUI:C1518236"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ovarian surface epithelial-stromal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2152 . obo:DOID_2152 obo:IAO_0000115 "An ovarian cancer that is derives_from ovarian surface epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4381"^^xsd:string, "SNOMEDCT_US_2021_03_01:237057005"^^xsd:string, "UMLS_CUI:C0341823"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian Surface epithelial-Stromal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2152"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary epithelial cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2394, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_2153 obo:IAO_0000115 "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40443"^^xsd:string, "UMLS_CUI:C1518746"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ovarian Wilms' tumor"@en ; oboInOwl:id "DOID:2153"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian Wilms' cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_2154 obo:IAO_0000115 "A kidney cancer that affects the kidneys and typically located_in children."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5177"^^xsd:string, "DOID:5180"^^xsd:string ; oboInOwl:hasDbXref "ICDO:M8960/3"^^xsd:string, "MESH:D009396"^^xsd:string, "NCI:C27730"^^xsd:string, "NCI:C3267"^^xsd:string, "NCI:C6180"^^xsd:string, "OMIM:194070"^^xsd:string, "SNOMEDCT_US_2021_03_01:25081006"^^xsd:string, "UMLS_CUI:C0027708"^^xsd:string, "UMLS_CUI:C1332219"^^xsd:string, "UMLS_CUI:C1333015"^^xsd:string ; oboInOwl:hasExactSynonym "adult nephroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Wilms' tumor"@en ; oboInOwl:id "DOID:2154"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nephroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263 . obo:DOID_2155 oboInOwl:hasDbXref "MESH:C562841"^^xsd:string, "NCI:C4514"^^xsd:string, "SNOMEDCT_US_2021_03_01:254869000"^^xsd:string, "UMLS_CUI:C0346180"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Ovarian germ cell tumor"@en, "malignant germ cell tumor of ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ovarian germ cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2156 . obo:DOID_2156 obo:IAO_0000115 "An ovarian cancer that originates in the germ (egg) cells of the ovary."^^xsd:string ; oboInOwl:hasDbXref "GARD:9330"^^xsd:string, "NCI:C3873"^^xsd:string, "OMIM:603737"^^xsd:string, "SNOMEDCT_US_2021_03_01:237059008"^^xsd:string, "UMLS_CUI:C0238324"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell neoplasm of Ovary"@en, "germ cell tumor of ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ovarian germ cell tumor"@en ; oboInOwl:id "DOID:2156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ovarian germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_2158 oboInOwl:hasExactSynonym "metastasis to lung"@en, "metastatic tumor to the lung"@en, "secondary malignant neoplasm of lung"@en, "secondary malignant neoplasm of lung (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2158"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_216 obo:IAO_0000115 "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10785"^^xsd:string, "DOID:10870"^^xsd:string, "DOID:11913"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003819"^^xsd:string, "ICD10CM:K02"^^xsd:string, "ICD10CM:K02.6"^^xsd:string, "ICD9CM:521.0"^^xsd:string, "ICD9CM:521.07"^^xsd:string, "MESH:D003731"^^xsd:string, "NCI:C52593"^^xsd:string, "SNOMEDCT_US_2021_03_01:155632007"^^xsd:string, "UMLS_CUI:C0011334"^^xsd:string, "UMLS_CUI:C1456145"^^xsd:string ; oboInOwl:hasExactSynonym "Dental caries extending into pulp"@en, "Dental caries of smooth surface"@en, "Dental caries pit and fissure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:216"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dental caries"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_2163 oboInOwl:hasAlternativeId "DOID:4728"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27102"^^xsd:string, "SNOMEDCT_US_2021_03_01:232340005"^^xsd:string, "UMLS_CUI:C0339820"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2163"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2825 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_217 oboInOwl:hasDbXref "ICD9CM:521.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:80353004"^^xsd:string, "UMLS_CUI:C0266853"^^xsd:string ; oboInOwl:hasExactSynonym "Dental caries limited to enamel"@en, "primary dental caries"@en, "simple dental cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:217"^^xsd:string ; a owl:Class ; rdfs:label "enamel caries"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_2170 obo:IAO_0000115 "A vaginal disease that is characterized by inflammation of the vagina."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10769"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:616.1"^^xsd:string, "MESH:D014627"^^xsd:string, "NCI:C26911"^^xsd:string, "SNOMEDCT_US_2021_03_01:198212006"^^xsd:string, "SNOMEDCT_US_2021_03_01:393596009"^^xsd:string, "UMLS_CUI:C0042267"^^xsd:string, "UMLS_CUI:C0042268"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2170"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginitis"^^xsd:string ; rdfs:subClassOf obo:DOID_121, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_2172 oboInOwl:hasExactSynonym "malignant neoplasm of the eyelid"@en, "malignant tumor of eyelid (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2172"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant eyelid tumor"^^xsd:string ; owl:deprecated true . obo:DOID_2173 oboInOwl:hasDbXref "MESH:D005142"^^xsd:string, "NCI:C3031"^^xsd:string, "SNOMEDCT_US_2021_03_01:278697001"^^xsd:string, "UMLS_CUI:C0015424"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2173"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eyelid benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3165, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_2174 obo:IAO_0000115 "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9985"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:190.8"^^xsd:string, "MESH:D005134"^^xsd:string, "NCI:C3030"^^xsd:string, "SNOMEDCT_US_2021_03_01:126995000"^^xsd:string, "SNOMEDCT_US_2021_03_01:188277006"^^xsd:string, "UMLS_CUI:C0015414"^^xsd:string, "UMLS_CUI:C0153632"^^xsd:string ; oboInOwl:hasExactSynonym "Ocular tumor"@en, "eye neoplasm"@en, "malignant eye neoplasm"@en, "neoplasm of eye"@en, "neoplasm of eye proper"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2174"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "ocular cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060116, obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] . obo:DOID_2176 oboInOwl:hasAlternativeId "DOID:11083"^^xsd:string, "DOID:11225"^^xsd:string, "DOID:11534"^^xsd:string, "DOID:13284"^^xsd:string, "DOID:13537"^^xsd:string, "DOID:13688"^^xsd:string, "DOID:2175"^^xsd:string, "DOID:2380"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:680.9"^^xsd:string, "UMLS_CUI:C0007079"^^xsd:string ; oboInOwl:hasExactSynonym "Carbuncle and furuncle of buttock"@en, "Carbuncle and furuncle of face"@en, "carbuncle and furuncle of any part of face except eye"@en, "carbuncle and furuncle of foot"@en, "carbuncle and furuncle of gluteal region"@en, "carbuncle and furuncle of hand"@en, "carbuncle and furuncle of leg except foot"@en, "carbuncle and furuncle of neck"@en, "carbuncle and furuncle of trunk"@en, "carbuncle and furuncle of upper arm and forearm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2176"^^xsd:string ; a owl:Class ; rdfs:label "carbuncle"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 . obo:DOID_2177 oboInOwl:hasAlternativeId "DOID:11640"^^xsd:string, "DOID:11641"^^xsd:string, "DOID:12099"^^xsd:string, "DOID:12100"^^xsd:string, "DOID:12496"^^xsd:string, "DOID:12497"^^xsd:string, "DOID:12648"^^xsd:string, "DOID:12649"^^xsd:string, "DOID:12947"^^xsd:string, "DOID:12948"^^xsd:string, "DOID:12949"^^xsd:string, "DOID:9624"^^xsd:string, "DOID:9625"^^xsd:string, "DOID:9627"^^xsd:string, "DOID:9628"^^xsd:string, "DOID:9629"^^xsd:string ; oboInOwl:hasExactSynonym "Asymptomatic bacteriuria antepartum"@en, "Asymptomatic bacteriuria in pregnancy, with delivery"@en, "Asymptomatic bacteriuria postpartum"@en, "Gonorrhea + pregnancy"@en, "Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium"@en, "Syphilis + pregnancy"@en, "Syphilis complicating pregnancy, childbirth, or the puerperium"@en, "antepartum gonorrhea"@en, "antepartum malaria"@en, "antepartum syphilis"@en, "gonorrhea complicating pregnancy, childbirth, or the puerperium"@en, "gonorrhea of mother with delivery"@en, "malaria complicating pregnancy, childbirth, or the puerperium"@en, "malaria of mother with delivery"@en, "postpartum gonorrhea"@en, "postpartum malaria"@en, "postpartum syphilis"@en, "syphilis of mother, complicating pregnancy, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2177"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complications mainly related to pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_2179 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations"@en, "Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2179"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_218 oboInOwl:hasDbXref "ICD10CM:C18.2"^^xsd:string, "ICD9CM:153.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:93683002"^^xsd:string, "UMLS_CUI:C0153439"^^xsd:string ; oboInOwl:hasExactSynonym "Ca ascending colon"@en, "malignant neoplasm of right colon"@en, "malignant tumor of ascending colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:218"^^xsd:string ; a owl:Class ; rdfs:label "ascending colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001156 ] ) ] . obo:DOID_2180 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2180"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetic oculopathy"^^xsd:string ; owl:deprecated true . obo:DOID_2181 oboInOwl:hasDbXref "ICD10CM:E89.1"^^xsd:string, "ICD9CM:251.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:190437000"^^xsd:string, "UMLS_CUI:C0154190"^^xsd:string ; oboInOwl:hasExactSynonym "Postsurgical hypoinsulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2181"^^xsd:string ; a owl:Class ; rdfs:label "post-surgical hypoinsulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1428 . obo:DOID_2186 oboInOwl:hasAlternativeId "DOID:14733"^^xsd:string ; oboInOwl:hasExactSynonym "(Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly)"@en, "Cole-Hughes syndrome"@en, "MACROCEPHALY, benign familial"@en, "Macrocephaly (disorder)"@en, "megacephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2186"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macrocephaly"^^xsd:string ; owl:deprecated true . obo:DOID_2187 obo:IAO_0000115 "A dental enamel hypoplasia characterized by abnormal enamel formation."^^xsd:string ; oboInOwl:hasDbXref "GARD:5791"^^xsd:string, "ICD10CM:K00.5"^^xsd:string, "MESH:D000567"^^xsd:string, "OMIM:PS104500"^^xsd:string, "ORDO:88661"^^xsd:string, "SNOMEDCT_US_2021_03_01:78494001"^^xsd:string, "UMLS_CUI:C0002452"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2187"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "amelogenesis imperfecta"^^xsd:string ; rdfs:subClassOf obo:DOID_693 . obo:DOID_219 obo:IAO_0000115 "A colorectal cancer that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18"^^xsd:string, "ICD9CM:153"^^xsd:string, "MESH:D003110"^^xsd:string, "NCI:C9242"^^xsd:string, "SNOMEDCT_US_2021_03_01:363406005"^^xsd:string, "UMLS_CUI:C0007102"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:219"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, obo:DOID_9256 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_221 obo:IAO_0000115 "A perichondritis of auricle with a sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:45855004"^^xsd:string, "UMLS_CUI:C0155390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:221"^^xsd:string ; a owl:Class ; rdfs:label "acute perichondritis of pinna"^^xsd:string ; rdfs:subClassOf obo:DOID_222 . obo:DOID_2211 obo:IAO_0000115 "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor."^^xsd:string ; oboInOwl:hasDbXref "GARD:10766"^^xsd:string, "MESH:D005177"^^xsd:string, "NCI:C98941"^^xsd:string, "OMIM:613225"^^xsd:string, "OMIM:613235"^^xsd:string, "SNOMEDCT_US_2021_03_01:50189006"^^xsd:string, "UMLS_CUI:C0015530"^^xsd:string ; oboInOwl:hasExactSynonym "Factor XIII deficiency disease"@en, "Hereditary factor XIII deficiency disease"@en, "deficiency, Laki-Lorand factor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor XIII deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_2212 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2212"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coagulation protein disease"^^xsd:string ; owl:deprecated true . obo:DOID_2213 oboInOwl:hasDbXref "ICD10CM:D69.9"^^xsd:string, "ICD9CM:287.9"^^xsd:string, "MESH:D006474"^^xsd:string, "SNOMEDCT_US_2021_03_01:268884000"^^xsd:string, "UMLS_CUI:C0019087"^^xsd:string ; oboInOwl:hasExactSynonym "Hemorrhagic diathesis"@en, "Hemorrhagic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2213"^^xsd:string ; a owl:Class ; rdfs:label "hemorrhagic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 . obo:DOID_2214 oboInOwl:hasDbXref "MESH:D025861"^^xsd:string, "ORDO:98429"^^xsd:string, "UMLS_CUI:C0852077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2214"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inherited blood coagulation disease"^^xsd:string ; owl:deprecated true . obo:DOID_2215 obo:IAO_0000115 "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade."^^xsd:string ; oboInOwl:hasDbXref "GARD:2238"^^xsd:string, "ICD10CM:D68.2"^^xsd:string, "MESH:D005168"^^xsd:string, "NCI:C131631"^^xsd:string, "SNOMEDCT_US_2021_03_01:154820003"^^xsd:string, "UMLS_CUI:C0015503"^^xsd:string ; oboInOwl:hasExactSynonym "Factor VII deficiency"@en, "deficiency, stable"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2215"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "factor VII deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_2216 oboInOwl:hasDbXref "GARD:2237"^^xsd:string, "ICD10CM:D68.2"^^xsd:string, "MESH:D005166"^^xsd:string, "NCI:C98938"^^xsd:string, "OMIM:227400"^^xsd:string, "SNOMEDCT_US_2021_03_01:191284007"^^xsd:string, "UMLS_CUI:C0015499"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary hypoproaccelerinaemia"@en, "Labile factor deficiency"@en, "Proaccelerin deficiency"@en, "deficiency, labile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2216"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor V deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2217 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001606"^^xsd:string, "NCI:C84595"^^xsd:string, "OMIM:231200"^^xsd:string, "ORDO:274"^^xsd:string, "SNOMEDCT_US_2021_03_01:54569005"^^xsd:string, "UMLS_CUI:C0005129"^^xsd:string ; oboInOwl:hasExactSynonym "Bernard - Soulier thrombopathy"@en, "Bernard Soulier syndrome"@en, "Giant platelet syndrome"@en, "Hemorrhagic dystrophic thrombocytopenia"@en, "Thrombopathy, Bernard-Soulier"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2217"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bernard-Soulier syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_2218 obo:IAO_0000115 "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001791"^^xsd:string, "NCI:C131634"^^xsd:string, "SNOMEDCT_US_2021_03_01:22716005"^^xsd:string, "UMLS_CUI:C0005818"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombocytopathy"@en, "platelet disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2218"^^xsd:string ; a owl:Class ; rdfs:label "blood platelet disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000233 ] ) ] . obo:DOID_2219 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:2478"^^xsd:string, "ICD10CM:D69.1"^^xsd:string, "MESH:D013915"^^xsd:string, "NCI:C61249"^^xsd:string, "OMIM:273800"^^xsd:string, "ORDO:849"^^xsd:string, "SNOMEDCT_US_2021_03_01:32942005"^^xsd:string, "UMLS_CUI:C0040015"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT2"@en, "Glanzmann thrombasthenia"@en, "Glycoprotein IIb/IIIa defect"@en, "Thrombocytasthenia"@en, "deficiency of GP IIb-IIIa complex"@en, "deficiency of glycoprotein complex IIb-IIIa"@en, "deficiency of platelet fibrinogen receptor"@en, "platelet glycoprotein IIb-IIIa deficiency"@en, "platelet-type bleeding disorder 2"@en, "thrombasthenia of Glanzmann and Naegeli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2219"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Glanzmann's thrombasthenia"^^xsd:string ; rdfs:subClassOf obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000233 ] . obo:DOID_222 obo:IAO_0000115 "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H61.0"^^xsd:string, "ICD9CM:380.00"^^xsd:string, "SNOMEDCT_US_2021_03_01:155210008"^^xsd:string, "UMLS_CUI:C0155389"^^xsd:string ; oboInOwl:hasExactSynonym "Perichondritis and chondritis of pinna"@en, "Perichondritis of pinna"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:222"^^xsd:string ; a owl:Class ; rdfs:label "perichondritis of auricle"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9463 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001757 ] ) ] . obo:DOID_2222 obo:IAO_0000115 "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:6404"^^xsd:string, "MESH:D005171"^^xsd:string, "NCI:C131632"^^xsd:string, "SNOMEDCT_US_2021_03_01:76642003"^^xsd:string, "UMLS_CUI:C0015519"^^xsd:string ; oboInOwl:hasExactSynonym "Factor X deficiency"@en, "disease, Stuart-Prower"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2222"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "factor X deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2223 oboInOwl:hasDbXref "GARD:5034"^^xsd:string, "MESH:D010981"^^xsd:string, "OMIM:185050"^^xsd:string, "SNOMEDCT_US_2021_03_01:234474009"^^xsd:string, "UMLS_CUI:C0032197"^^xsd:string ; oboInOwl:hasExactSynonym "Dense body defect"@en, "Platelet dense granule deficiency"@en, "Platelet storage pool defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2223"^^xsd:string ; a owl:Class ; rdfs:label "platelet storage pool deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_2224 obo:IAO_0000115 "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets."^^xsd:string ; oboInOwl:hasDbXref "GARD:6594"^^xsd:string, "ICD10CM:D47.3"^^xsd:string, "ICD9CM:238.71"^^xsd:string, "MESH:D013920"^^xsd:string, "NCI:C3407"^^xsd:string, "OMIM:187950"^^xsd:string, "OMIM:601977"^^xsd:string, "OMIM:614521"^^xsd:string, "ORDO:3318"^^xsd:string, "ORDO:71493"^^xsd:string, "SNOMEDCT_US_2021_03_01:234499005"^^xsd:string, "UMLS_CUI:C0040028"^^xsd:string ; oboInOwl:hasExactSynonym "Essential thrombocythaemia"@en, "familial thrombocytosis"@en, "hemorrhagic thrombocythemia"@en, "hereditary thrombocythemia"@en, "primary Thrombocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2224"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "essential thrombocythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2226, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_2225 oboInOwl:hasDbXref "NCI:C7066"^^xsd:string, "UMLS_CUI:C1334687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2225"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "A legacy term, obsoleted."^^xsd:string ; rdfs:label "obsolete megakaryocytic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_2226 obo:IAO_0000115 "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6002"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.1"^^xsd:string, "NCI:C4345"^^xsd:string, "SNOMEDCT_US_2021_03_01:115248004"^^xsd:string, "UMLS_CUI:C1292778"^^xsd:string ; oboInOwl:hasExactSynonym "CMPD"@en, "CMPD, U"@en, "chronic myeloproliferative disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2226"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloproliferative neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0070004 . obo:DOID_2227 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2227"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of lymphatic and hemopoietic tissue"^^xsd:string ; owl:deprecated true . obo:DOID_2228 obo:IAO_0000115 "A blood platelet disease that is characterized by the presence of high platelet counts in the blood."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013922"^^xsd:string, "NCI:C35530"^^xsd:string, "SNOMEDCT_US_2021_03_01:165557006"^^xsd:string, "UMLS_CUI:C0836924"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombocythaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2228"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thrombocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_2229 obo:IAO_0000115 "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9670"^^xsd:string, "ICD10CM:D68.1"^^xsd:string, "ICD9CM:286.2"^^xsd:string, "MESH:D005173"^^xsd:string, "NCI:C84705"^^xsd:string, "OMIM:612416"^^xsd:string, "SNOMEDCT_US_2021_03_01:49762007"^^xsd:string, "UMLS_CUI:C0015523"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital factor XI deficiency"@en, "Hereditary factor XI deficiency disease"@en, "Rosenthal's disease"@en, "hemophilia C"@en, "plasma thromboplastin antecedent deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2229"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor XI deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_223 oboInOwl:hasDbXref "ICD9CM:435.0"^^xsd:string, "MESH:D014715"^^xsd:string, "NCI:C34413"^^xsd:string, "SNOMEDCT_US_2021_03_01:195197005"^^xsd:string, "UMLS_CUI:C0004812"^^xsd:string ; oboInOwl:hasExactSynonym "Basilar artery syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basilar artery insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_224, obo:DOID_225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001633 ] ) ] . obo:DOID_2230 oboInOwl:hasExactSynonym "Haemophilia"@en, "Hemophilia (disorder)"@en, "Hemophilia NOS"@en, "hemophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2230"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hemophilia"^^xsd:string ; owl:deprecated true . obo:DOID_2231 obo:IAO_0000115 "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:6558"^^xsd:string, "MESH:D005175"^^xsd:string, "NCI:C131740"^^xsd:string, "OMIM:234000"^^xsd:string, "ORDO:330"^^xsd:string, "SNOMEDCT_US_2021_03_01:46981006"^^xsd:string, "UMLS_CUI:C0015526"^^xsd:string ; oboInOwl:hasExactSynonym "Factor XII deficiency disease"@en, "Hageman Factor deficiency"@en, "deficiency, Hageman"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2231"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor XII deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2232 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coagulation factor deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_2233 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2233"^^xsd:string ; a owl:Class ; rdfs:label "obsolete partial epilepsy with impairment of consciousness"^^xsd:string ; owl:deprecated true . obo:DOID_2234 obo:IAO_0000115 "An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004828"^^xsd:string, "NCI:C122812"^^xsd:string, "SNOMEDCT_US_2021_03_01:230381009"^^xsd:string, "UMLS_CUI:C0014547"^^xsd:string ; oboInOwl:hasExactSynonym "localisation-related epilepsy"@en, "partial epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2234"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "focal epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_2235 obo:IAO_0000115 "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613679"^^xsd:string, "ORDO:325"^^xsd:string, "UMLS_CUI:C0020640"^^xsd:string ; oboInOwl:hasExactSynonym "hypoprothrombinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Factor II deficiency"@en ; oboInOwl:id "DOID:2235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "prothrombin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_2236 obo:IAO_0000115 "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)."^^xsd:string ; oboInOwl:hasDbXref "GARD:5761"^^xsd:string, "MESH:D000347"^^xsd:string, "NCI:C98130"^^xsd:string, "OMIM:202400"^^xsd:string, "SNOMEDCT_US_2021_03_01:278504009"^^xsd:string, "UMLS_CUI:C0001733"^^xsd:string ; oboInOwl:hasExactSynonym "Factor I deficiency"@en, "Fibrinogen deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2236"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital afibrinogenemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_2237 oboInOwl:hasAlternativeId "DOID:12352"^^xsd:string, "DOID:14551"^^xsd:string, "DOID:1706"^^xsd:string, "DOID:1707"^^xsd:string, "DOID:2238"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K73.9"^^xsd:string, "ICD9CM:570"^^xsd:string, "ICD9CM:571.4"^^xsd:string, "ICD9CM:571.41"^^xsd:string, "MESH:D006521"^^xsd:string, "NCI:C82978"^^xsd:string, "SNOMEDCT_US_2021_03_01:155813004"^^xsd:string, "SNOMEDCT_US_2021_03_01:197268000"^^xsd:string, "SNOMEDCT_US_2021_03_01:266539002"^^xsd:string, "UMLS_CUI:C0001308"^^xsd:string, "UMLS_CUI:C0019189"^^xsd:string, "UMLS_CUI:C0149519"^^xsd:string ; oboInOwl:hasExactSynonym "acute and subacute liver necrosis"@en, "acute hepatitis"@en, "acute/subac. necrosis of liver"@en, "animal hepatitis"@en, "chronic hepatitis"@en, "chronic persistent hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2237"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_409 . obo:DOID_2239 oboInOwl:hasDbXref "NCI:C27015"^^xsd:string, "SNOMEDCT_US_2021_03_01:86514004"^^xsd:string, "UMLS_CUI:C0235369"^^xsd:string ; oboInOwl:hasExactSynonym "Granulomatous hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2237 . obo:DOID_224 obo:IAO_0000115 "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2315"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G45.9"^^xsd:string, "MESH:D002546"^^xsd:string, "NCI:C50781"^^xsd:string, "SNOMEDCT_US_2021_03_01:195196001"^^xsd:string, "UMLS_CUI:C0007787"^^xsd:string ; oboInOwl:hasExactSynonym "TIA"@en, "TIA - Transient ischaemic attack"@en, "TRANSIENT ISCHEMIC ATTACK"@en, "Transient cerebral ischaemia"@en, "Transient cerebral ischemia"@en, "Transient ischemic attacks"@en, "transient ischemic attack"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient cerebral ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2316 . obo:DOID_2242 oboInOwl:hasExactSynonym "Major depressive disorder, recurrent episode, mild degree"@en, "Mild recurrent major depression (disorder)"@en, "recurrent major depressive episodes, mild (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2242"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mild recurrent major depression"^^xsd:string ; owl:deprecated true . obo:DOID_2247 obo:IAO_0000115 "An bone structure disease that involves degeneration between vertebra located_in vertebral column."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8708"^^xsd:string, "DOID:8709"^^xsd:string, "DOID:8888"^^xsd:string, "DOID:8905"^^xsd:string, "DOID:9949"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M47"^^xsd:string, "ICD9CM:721.9"^^xsd:string, "MESH:D055009"^^xsd:string, "OMIM:184300"^^xsd:string, "SNOMEDCT_US_2021_03_01:8847002"^^xsd:string, "UMLS_CUI:C0038019"^^xsd:string ; oboInOwl:hasExactSynonym "Lumbar spondylosis with myelopathy"@en, "Spondylogenic compression of lumbar spinal cord"@en, "Spondylogenic compression of thoracic spinal cord"@en, "Spondylosis with myelopathy"@en, "Thoracic or lumbar spondylosis with myelopathy"@en, "lumbosacral spondylosis without myelopathy"@en, "spondylosis with myelopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2247"^^xsd:string ; a owl:Class ; rdfs:label "spondylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_225 obo:IAO_0000115 "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013577"^^xsd:string, "NCI:C28193"^^xsd:string, "SNOMEDCT_US_2021_03_01:64572001"^^xsd:string, "UMLS_CUI:C0039082"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:225"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] ) ] . obo:DOID_2251 oboInOwl:hasDbXref "ICD10CM:N88.4"^^xsd:string, "ICD9CM:622.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:35863000"^^xsd:string, "UMLS_CUI:C0020561"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2251"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic elongation of cervix"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_2253 obo:IAO_0000115 "A uterine disease that is located_in the cervix."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002577"^^xsd:string, "NCI:C40241"^^xsd:string, "SNOMEDCT_US_2021_03_01:63339007"^^xsd:string, "UMLS_CUI:C0007867"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix disease"^^xsd:string ; rdfs:subClassOf obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] ) ] . obo:DOID_2255 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete short rib-polydactyly syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_2256 obo:IAO_0000115 "A bone development disease that results_in defective development of cartilage or bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1764"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.9"^^xsd:string, "ICD9CM:756.4"^^xsd:string, "MESH:D010009"^^xsd:string, "NCI:C34466"^^xsd:string, "NCI:C84978"^^xsd:string, "SNOMEDCT_US_2021_03_01:205510001"^^xsd:string, "SNOMEDCT_US_2021_03_01:67988000"^^xsd:string, "UMLS_CUI:C0008449"^^xsd:string, "UMLS_CUI:C0029422"^^xsd:string ; oboInOwl:hasExactSynonym "Cartilage Development disorder"@en, "Congenital anomaly of cartilage"@en, "Osteochondrodysplasia syndrome"@en, "chondrodystrophy"@en, "skeletal dysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2256"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteochondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002652 ] ) ] . obo:DOID_2257 oboInOwl:hasAlternativeId "DOID:0060034"^^xsd:string ; oboInOwl:hasExactSynonym "Spirochetes infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2257"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Spirochaetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2265 oboInOwl:hasExactSynonym "Treponema infection"@en, "Treponemal disease"@en, "Treponemal infection"@en, "Treponemal infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2265"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Treponema infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_227 obo:IAO_0000115 "Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M24.6"^^xsd:string, "ICD9CM:718.5"^^xsd:string, "MESH:D000844"^^xsd:string, "NCI:C171941"^^xsd:string, "SNOMEDCT_US_2021_03_01:36504009"^^xsd:string, "UMLS_CUI:C0003090"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:227"^^xsd:string ; a owl:Class ; rdfs:label "ankylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 ; skos:exactMatch "MESH:D000844"^^xsd:string . obo:DOID_2271 obo:IAO_0000115 "A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing."^^xsd:string ; oboInOwl:hasExactSynonym "Oropharyngeal Candidiasis"@en, "oropharyngeal thrush"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2271"^^xsd:string ; a owl:Class ; rdfs:label "obsolete oropharyngeal candidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_2272 obo:IAO_0000115 "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B37.3"^^xsd:string, "ICD9CM:112.1"^^xsd:string, "MESH:D002181"^^xsd:string, "NCI:C2914"^^xsd:string, "SNOMEDCT_US_2021_03_01:154404004"^^xsd:string, "UMLS_CUI:C0700345"^^xsd:string ; oboInOwl:hasExactSynonym "Candidal vulvovaginitis"@en, "Candidal: cervix"@en, "Candidiasis of vulva and vagina"@en, "Monilial vulvovaginitis"@en, "Vulvovaginal Candidiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvovaginal candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_121, obo:DOID_1508, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] . obo:DOID_2273 obo:IAO_0000115 "A female reproductive system disease that is characterized by inflammation of the vagina and vulva."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N76.0"^^xsd:string, "MESH:D014848"^^xsd:string, "NCI:C35131"^^xsd:string, "SNOMEDCT_US_2021_03_01:155981006"^^xsd:string, "UMLS_CUI:C0042998"^^xsd:string ; oboInOwl:hasExactSynonym "Vulvo-vaginitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2273"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvovaginitis"^^xsd:string ; rdfs:subClassOf obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_2275 obo:IAO_0000115 "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10455"^^xsd:string, "DOID:11586"^^xsd:string, "DOID:11588"^^xsd:string, "DOID:938"^^xsd:string, "DOID:939"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J02"^^xsd:string, "ICD9CM:462"^^xsd:string, "ICD9CM:472"^^xsd:string, "ICD9CM:478.20"^^xsd:string, "MESH:D010608"^^xsd:string, "MESH:D010612"^^xsd:string, "NCI:C26850"^^xsd:string, "NCI:C26851"^^xsd:string, "NCI:C34355"^^xsd:string, "SNOMEDCT_US_2021_03_01:195654001"^^xsd:string, "SNOMEDCT_US_2021_03_01:195763009"^^xsd:string, "SNOMEDCT_US_2021_03_01:37616004"^^xsd:string, "SNOMEDCT_US_2021_03_01:75860007"^^xsd:string, "UMLS_CUI:C0001344"^^xsd:string, "UMLS_CUI:C0031345"^^xsd:string, "UMLS_CUI:C0031350"^^xsd:string, "UMLS_CUI:C0155824"^^xsd:string ; oboInOwl:hasExactSynonym "Inflamed throat"@en, "Persistent sore throat"@en, "Pharyngeal disorder"@en, "Pharyngitis - acute"@en, "Sore throat - chronic"@en, "acute pharyngitis"@en, "acute sore throat"@en, "chronic pharyn/nasopharyngitis"@en, "chronic pharyngitis"@en, "chronic pharyngitis and nasopharyngitis"@en, "chronic sore throat"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "pharyngeal disease"@en ; oboInOwl:id "DOID:2275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pharyngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_2277 obo:IAO_0000115 "An endocrine system disease that is located_in the gonads."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006058"^^xsd:string, "NCI:C26786"^^xsd:string, "UMLS_CUI:C0018050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gonadal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000991 ] ) ] . obo:DOID_2279 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2279"^^xsd:string ; a owl:Class ; rdfs:label "obsolete joint derangement"^^xsd:string ; owl:deprecated true . obo:DOID_2280 obo:IAO_0000115 "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation."^^xsd:string ; oboInOwl:hasDbXref "GARD:6658"^^xsd:string, "ICD10CM:L73.2"^^xsd:string, "MESH:D017497"^^xsd:string, "NCI:C128429"^^xsd:string, "OMIM:142690"^^xsd:string, "OMIM:613736"^^xsd:string, "OMIM:613737"^^xsd:string, "SNOMEDCT_US_2021_03_01:201204008"^^xsd:string, "UMLS_CUI:C0162836"^^xsd:string ; oboInOwl:hasExactSynonym "Acne inversa, familial"@en, "Hidradenitis suppurativa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hidradenitis suppurativa"^^xsd:string ; rdfs:subClassOf obo:DOID_2282, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_2282 obo:IAO_0000115 "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:705.83"^^xsd:string, "MESH:D016575"^^xsd:string, "NCI:C112190"^^xsd:string, "SNOMEDCT_US_2021_03_01:267866004"^^xsd:string, "UMLS_CUI:C0085160"^^xsd:string ; oboInOwl:hasExactSynonym "Hidradenitis"@en, "Hydradenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2282"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hidradenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1383, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_2283 oboInOwl:hasDbXref "NCI:C27012"^^xsd:string, "UMLS_CUI:C0235270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2283"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_2286 oboInOwl:hasDbXref "NCI:C27509"^^xsd:string, "SNOMEDCT_US_2021_03_01:445492005"^^xsd:string, "UMLS_CUI:C1333176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cutaneous lymphangioma"@en ; oboInOwl:id "DOID:2286"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "capillary lymphangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1271, obo:DOID_1475 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1475 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001982 ] ) ] . obo:DOID_229 obo:IAO_0000115 "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:629.9"^^xsd:string, "MESH:D005831"^^xsd:string, "SNOMEDCT_US_2021_03_01:38233001"^^xsd:string, "UMLS_CUI:C0017411"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:229"^^xsd:string ; a owl:Class ; rdfs:label "female reproductive system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_15 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000474 ] ) ] . obo:DOID_2297 obo:IAO_0000115 "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11348"^^xsd:string ; oboInOwl:hasDbXref "GARD:7881"^^xsd:string, "ICD10CM:A27"^^xsd:string, "ICD10CM:A27.0"^^xsd:string, "ICD9CM:100"^^xsd:string, "ICD9CM:100.0"^^xsd:string, "MESH:D007922"^^xsd:string, "MESH:D014895"^^xsd:string, "NCI:C84825"^^xsd:string, "SNOMEDCT_US_2021_03_01:154391003"^^xsd:string, "SNOMEDCT_US_2021_03_01:398067003"^^xsd:string, "UMLS_CUI:C0023364"^^xsd:string, "UMLS_CUI:C0043102"^^xsd:string ; oboInOwl:hasExactSynonym "Fort Bragg fever"@en, "Leptospirosis icterohaemorrhagica"@en, "Rat Catcher's Yellows"@en, "Weil's disease"@en, "nanukayami fever"@en, "spirochetal jaundice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "leptospirosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_171 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_230 obo:IAO_0000115 "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.23"^^xsd:string, "ICD9CM:335.24"^^xsd:string, "MESH:D016472"^^xsd:string, "NCI:C129933"^^xsd:string, "OMIM:611637"^^xsd:string, "ORDO:35689"^^xsd:string, "SNOMEDCT_US_2021_03_01:81211007"^^xsd:string, "UMLS_CUI:C0154682"^^xsd:string ; oboInOwl:hasExactSynonym "adult-onset primary lateral sclerosis"@en, "primary lateral sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:230"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "lateral sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_231, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_2300 obo:IAO_0000115 "A bone structure disease that involves a defect located_in lumbar vertebral column."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M43.0"^^xsd:string, "MESH:D013169"^^xsd:string, "NCI:C35034"^^xsd:string, "SNOMEDCT_US_2021_03_01:203688008"^^xsd:string, "UMLS_CUI:C0038018"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2300"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spondylolysis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_2301 oboInOwl:hasDbXref "ICD9CM:602.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:29524003"^^xsd:string, "UMLS_CUI:C0156296"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2301"^^xsd:string ; a owl:Class ; rdfs:label "atrophy of prostate"^^xsd:string ; rdfs:subClassOf obo:DOID_47 . obo:DOID_2303 obo:IAO_0000115 "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F98.4"^^xsd:string, "ICD9CM:307.3"^^xsd:string, "MESH:D019956"^^xsd:string, "SNOMEDCT_US_2021_03_01:5507002"^^xsd:string, "UMLS_CUI:C0038273"^^xsd:string ; oboInOwl:hasExactSynonym "Stereotyped repetitive movements"@en, "Stereotypy habit disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2303"^^xsd:string ; a owl:Class ; rdfs:label "stereotypic movement disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_231 obo:IAO_0000115 "A neurodegenerative disease that is located_in the motor neurones."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.2"^^xsd:string, "ICD9CM:335.2"^^xsd:string, "MESH:D016472"^^xsd:string, "SNOMEDCT_US_2021_03_01:37340000"^^xsd:string, "UMLS_CUI:C0085084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:231"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "motor neuron disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000100 ] ) ] . obo:DOID_2312 obo:IAO_0000115 "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "GARD:7210"^^xsd:string, "ICD10CM:A43"^^xsd:string, "MESH:D009617"^^xsd:string, "NCI:C171147"^^xsd:string, "SNOMEDCT_US_2021_03_01:29227009"^^xsd:string, "UMLS_CUI:C0028242"^^xsd:string ; oboInOwl:hasExactSynonym "Nocardia infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2312"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "nocardiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050340 . obo:DOID_2313 oboInOwl:hasExactSynonym "Actinomycetales infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2313"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Actinomycetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2314 obo:IAO_0000115 "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.4"^^xsd:string, "ICD9CM:495.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:25897000"^^xsd:string, "UMLS_CUI:C0155888"^^xsd:string ; oboInOwl:hasExactSynonym "Malt workers' lung"@en, "Malt-workers' lung"@en, "alveolitis due to aspergillus clavatus"@en, "malt worker lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2314"^^xsd:string ; a owl:Class ; rdfs:label "malt worker's lung"^^xsd:string ; rdfs:subClassOf obo:DOID_841 . obo:DOID_2316 obo:IAO_0000115 "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002545"^^xsd:string, "SNOMEDCT_US_2021_03_01:193049009"^^xsd:string, "UMLS_CUI:C0007786"^^xsd:string ; oboInOwl:hasExactSynonym "Ischaemic encephalopathy"@en, "Ischemic encephalopathy"@en, "cerebral ischemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2316"^^xsd:string ; a owl:Class ; rdfs:label "brain ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_326, obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_2320 obo:IAO_0000115 "A lung disease that is characterized by narrowing of pulmonary airways."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008173"^^xsd:string, "UMLS_CUI:C0600260"^^xsd:string ; oboInOwl:hasExactSynonym "respiratory airway obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2320"^^xsd:string ; a owl:Class ; rdfs:label "obstructive lung disease"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_2321 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2321"^^xsd:string ; a owl:Class ; rdfs:comment "doid/symp duplicate - moved to Symptom Ontology"^^xsd:string ; rdfs:label "obsolete dyspepsia"^^xsd:string ; owl:deprecated true . obo:DOID_2323 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2323"^^xsd:string ; a owl:Class ; rdfs:label "obsolete prostate non-neoplastic disease"^^xsd:string ; owl:deprecated true . obo:DOID_2324 obo:IAO_0000115 "An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain."^^xsd:string ; oboInOwl:hasExactSynonym "Coxsackie meningitis (disorder)"@en, "Coxsackie viral meningitis"@en, "Meningitis due to coxsackie virus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_2325 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enterovirus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_2326 obo:IAO_0000115 "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4094"^^xsd:string, "DOID:5269"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.9"^^xsd:string, "MESH:D005759"^^xsd:string, "NCI:C34632"^^xsd:string, "SNOMEDCT_US_2021_03_01:154278002"^^xsd:string, "UMLS_CUI:C0017160"^^xsd:string ; oboInOwl:hasExactSynonym "cholera morbus"@en, "infectious colitis, enteritis and gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastroenteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; skos:exactMatch "MESH:D005759"^^xsd:string . obo:DOID_2327 obo:IAO_0000115 "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27184"^^xsd:string, "SNOMEDCT_US_2021_03_01:285344007"^^xsd:string, "UMLS_CUI:C0563238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000420 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_2328 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2328"^^xsd:string ; a owl:Class ; rdfs:label "obsolete astrovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_2329 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain."^^xsd:string ; oboInOwl:hasExactSynonym "Enteritis due to rotavirus (disorder)"@en, "rotavirus enteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2329"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rotavirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_233 oboInOwl:hasExactSynonym "Tuberculosis of eye"@en, "Tuberculosis of eye (disorder)"@en, "Tuberculosis of eye NOS (disorder)"@en, "Tuberculosis of eye, unspecified examination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:233"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete ocular tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_2334 obo:IAO_0000115 "A carcinoma that is able to grow at sites distant from the primary site of origin."^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma, metastatic (morphologic abnormality)"@en, "carcinoma, metastatic, NOS (morphologic abnormality)"@en, "metastatic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_2338 obo:IAO_0000115 "A jaw cancer and mandibular disease that affects your lower jawbone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12408"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C41.1"^^xsd:string, "ICD9CM:170.1"^^xsd:string, "MESH:D008339"^^xsd:string, "NCI:C35178"^^xsd:string, "SNOMEDCT_US_2021_03_01:126551000"^^xsd:string, "SNOMEDCT_US_2021_03_01:448668007"^^xsd:string, "UMLS_CUI:C0024694"^^xsd:string, "UMLS_CUI:C0153511"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of inferior maxilla"@en, "malignant neoplasm of lower Jaw bone"@en, "mandible cancer"@en, "neoplasm of mandible"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "malignant neoplasm of mandible"@en, "mandibular neoplasm"@en ; oboInOwl:id "DOID:2338"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mandibular cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1862 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001684 ] ) ] . obo:DOID_2339 obo:IAO_0000115 "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:6206"^^xsd:string, "ICD10CM:Q75.1"^^xsd:string, "MESH:D003394"^^xsd:string, "NCI:C84653"^^xsd:string, "OMIM:123500"^^xsd:string, "SNOMEDCT_US_2021_03_01:28861008"^^xsd:string, "UMLS_CUI:C0010273"^^xsd:string ; oboInOwl:hasExactSynonym "Craniofacial Dysostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Crouzon's disease"@en ; oboInOwl:id "DOID:2339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Crouzon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2340 . obo:DOID_234 obo:IAO_0000115 "A colon carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4349"^^xsd:string, "SNOMEDCT_US_2021_03_01:255082000"^^xsd:string, "UMLS_CUI:C0338106"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic adenocarcinoma"@en, "adenocarcinoma of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the colon"@en ; oboInOwl:id "DOID:234"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1520, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_2340 obo:IAO_0000115 "A synostosis that results_in premature fusion located_in skull."^^xsd:string ; oboInOwl:hasDbXref "GARD:6209"^^xsd:string, "ICD10CM:Q75.0"^^xsd:string, "MESH:D003398"^^xsd:string, "NCI:C84655"^^xsd:string, "OMIM:123100"^^xsd:string, "OMIM:182212"^^xsd:string, "OMIM:600593"^^xsd:string, "OMIM:600775"^^xsd:string, "OMIM:604757"^^xsd:string, "OMIM:615314"^^xsd:string, "ORDO:1531"^^xsd:string, "SNOMEDCT_US_2021_03_01:205414007"^^xsd:string, "UMLS_CUI:C0010278"^^xsd:string ; oboInOwl:hasExactSynonym "Premature closure of cranial sutures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2340"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "craniosynostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_2344 oboInOwl:hasDbXref "ICD10CM:D89.0"^^xsd:string, "ICD9CM:273.0"^^xsd:string, "NCI:C35885"^^xsd:string, "SNOMEDCT_US_2021_03_01:190808009"^^xsd:string, "UMLS_CUI:C0154254"^^xsd:string ; oboInOwl:hasExactSynonym "Polyclonal hypergammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2344"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyclonal hypergammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2345, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000054 ] . obo:DOID_2345 obo:IAO_0000115 "An inherited metabolic disorder that involves plasma protein metabolism malfunction."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:273.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:190822009"^^xsd:string, "UMLS_CUI:C0029594"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2345"^^xsd:string ; a owl:Class ; rdfs:label "plasma protein metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_2346 oboInOwl:hasDbXref "ICD9CM:273.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:190812003"^^xsd:string, "UMLS_CUI:C0026471"^^xsd:string ; oboInOwl:hasExactSynonym "Monoclonal Paraproteinemia"@en, "Monoclonal paraproteinaemia"@en, "Monoclonal paraproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2346"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "monoclonal paraproteinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2345 . obo:DOID_2347 oboInOwl:hasDbXref "ICD10CM:I70.91"^^xsd:string, "ICD9CM:440.9"^^xsd:string, "NCI:C35767"^^xsd:string, "SNOMEDCT_US_2021_03_01:367108003"^^xsd:string, "UMLS_CUI:C0017327"^^xsd:string ; oboInOwl:hasExactSynonym "Generalised atherosclerosis"@en, "Generalized atherosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2347"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "generalized atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1936 . obo:DOID_2348 oboInOwl:hasDbXref "ICD10CM:I70"^^xsd:string, "ICD9CM:440"^^xsd:string, "MESH:D050197"^^xsd:string, "NCI:C34403"^^xsd:string, "NCI:C35768"^^xsd:string, "SNOMEDCT_US_2021_03_01:155414001"^^xsd:string, "SNOMEDCT_US_2021_03_01:39468009"^^xsd:string, "UMLS_CUI:C0004153"^^xsd:string, "UMLS_CUI:C3665365"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular arteriosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2348"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arteriosclerotic cardiovascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 . obo:DOID_2349 obo:IAO_0000115 "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I70"^^xsd:string, "MESH:D001161"^^xsd:string, "NCI:C34398"^^xsd:string, "SNOMEDCT_US_2021_03_01:195251000"^^xsd:string, "UMLS_CUI:C0003850"^^xsd:string ; oboInOwl:hasExactSynonym "Arteriosclerosis"@en, "Arteriosclerotic vascular disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2349"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arteriosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_235 obo:IAO_0000115 "An intestinal benign neoplasm that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003110"^^xsd:string, "NCI:C2953"^^xsd:string, "SNOMEDCT_US_2021_03_01:126838000"^^xsd:string, "UMLS_CUI:C0009375"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Mass"@en, "Colonic tumor"@en, "colon neoplasm"@en, "neoplasm of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colonic benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1475, obo:DOID_4610, obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1475 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_2350 oboInOwl:hasExactSynonym "Iron overload (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2350"^^xsd:string ; a owl:Class ; rdfs:label "obsolete iron overload"^^xsd:string ; owl:deprecated true . obo:DOID_2351 oboInOwl:hasDbXref "ICD10CM:E83.1"^^xsd:string, "ICD9CM:275.0"^^xsd:string, "MESH:D019189"^^xsd:string, "SNOMEDCT_US_2021_03_01:30913008"^^xsd:string, "UMLS_CUI:C0012715"^^xsd:string ; oboInOwl:hasExactSynonym "Iron disorder"@en, "disorder of iron metabolism"@en, "iron disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2351"^^xsd:string ; a owl:Class ; rdfs:label "iron metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050032 . obo:DOID_2352 obo:IAO_0000115 "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.11"^^xsd:string, "MESH:D006432"^^xsd:string, "NCI:C82892"^^xsd:string, "OMIM:231100"^^xsd:string, "OMIM:PS235200"^^xsd:string, "ORDO:139498"^^xsd:string, "SNOMEDCT_US_2021_03_01:86781004"^^xsd:string, "UMLS_CUI:C0018995"^^xsd:string ; oboInOwl:hasExactSynonym "Haemochromatosis"@en, "diabetes bronze"@en, "iron storage disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2352"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hemochromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_2354 obo:IAO_0000115 "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D61.82"^^xsd:string, "MESH:D000750"^^xsd:string, "SNOMEDCT_US_2021_03_01:2694001"^^xsd:string, "UMLS_CUI:C0002890"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA LEUKOERYTHROBLASTIC"@en, "Anemia, leukoerythroblastic"@en, "Leukoerythroblastosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "myelophthisis"@en ; oboInOwl:id "DOID:2354"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myelophthisic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_12449, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000208 ] . obo:DOID_2355 obo:IAO_0000115 "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004272"^^xsd:string, "ICD10CM:D64.9"^^xsd:string, "ICD9CM:285.9"^^xsd:string, "MESH:D000740"^^xsd:string, "NCI:C2869"^^xsd:string, "SNOMEDCT_US_2021_03_01:64593003"^^xsd:string, "UMLS_CUI:C0002871"^^xsd:string ; oboInOwl:hasExactSynonym "anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2355"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_74 ; skos:exactMatch "MESH:D000740"^^xsd:string . obo:DOID_2361 oboInOwl:hasDbXref "MESH:D000748"^^xsd:string, "NCI:C34381"^^xsd:string, "SNOMEDCT_US_2021_03_01:83414005"^^xsd:string, "UMLS_CUI:C0002886"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA MACROCYTIC"@en, "Macrocytic anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macrocytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_2364 obo:IAO_0000115 "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12820"^^xsd:string, "DOID:2363"^^xsd:string, "DOID:2720"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I87.0"^^xsd:string, "ICD9CM:459.1"^^xsd:string, "MESH:D011186"^^xsd:string, "SNOMEDCT_US_2021_03_01:155460004"^^xsd:string, "UMLS_CUI:C0032807"^^xsd:string ; oboInOwl:hasExactSynonym "Postphlebetic syndrome with inflammation"@en, "Postphlebetic syndrome with ulcer"@en, "Postphlebetic syndrome with ulcer and inflammation"@en, "postphlebitic syndrome"@en, "venous stress disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2364"^^xsd:string ; a owl:Class ; rdfs:label "post-thrombotic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10128 . obo:DOID_2365 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9959"^^xsd:string, "ICD10CM:A92.31"^^xsd:string, "ICD9CM:066.41"^^xsd:string, "MESH:D014901"^^xsd:string, "SNOMEDCT_US_2021_03_01:392662004"^^xsd:string, "UMLS_CUI:C0751583"^^xsd:string ; oboInOwl:hasExactSynonym "West Nile Fever with encephalitis"@en, "West Nile fever encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2365"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "West Nile encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11082 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_7158 obo:NCBITaxon_7164 obo:NCBITaxon_7174 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_2366 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A92.3"^^xsd:string, "ICD9CM:066.4"^^xsd:string, "MESH:D014901"^^xsd:string, "SNOMEDCT_US_2021_03_01:12381007"^^xsd:string, "UMLS_CUI:C0043124"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2366"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "West Nile fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11082 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_2367 oboInOwl:hasDbXref "MESH:D019150"^^xsd:string, "NCI:C161542"^^xsd:string, "SNOMEDCT_US_2021_03_01:230365004"^^xsd:string, "UMLS_CUI:C0338473"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2367"^^xsd:string ; a owl:Class ; rdfs:label "neuroaxonal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_2368 obo:IAO_0000115 "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides."^^xsd:string ; oboInOwl:hasDbXref "GARD:12510"^^xsd:string, "ICD10CM:E75.10"^^xsd:string, "MESH:D005733"^^xsd:string, "ORDO:309144"^^xsd:string, "SNOMEDCT_US_2021_03_01:50967008"^^xsd:string, "UMLS_CUI:C0017083"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2368"^^xsd:string ; a owl:Class ; rdfs:label "gangliosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1927, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2369 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2369"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_237 oboInOwl:hasExactSynonym "adhesions and disruptions of iris and ciliary body (disorder)"@en, "adhesions and disruptions of iris and ciliary body NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:237"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions and disruptions of iris and ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_2370 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2370"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetic nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_2373 obo:IAO_0000115 "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present."^^xsd:string ; oboInOwl:hasDbXref "GARD:6621"^^xsd:string, "ICD10CM:D58.1"^^xsd:string, "ICD9CM:282.1"^^xsd:string, "MESH:D004612"^^xsd:string, "NCI:C35882"^^xsd:string, "OMIM:130600"^^xsd:string, "OMIM:611804"^^xsd:string, "ORDO:288"^^xsd:string, "SNOMEDCT_US_2021_03_01:154801000"^^xsd:string, "UMLS_CUI:C0013902"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital elliptocytosis"@en, "ovalocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2373"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary elliptocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_74 . obo:DOID_2376 oboInOwl:hasExactSynonym "chronic progressive multiple sclerosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2376"^^xsd:string ; a owl:Class ; rdfs:comment "This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS]"^^xsd:string ; rdfs:label "obsolete chronic progressive multiple sclerosis"^^xsd:string ; owl:deprecated true . obo:DOID_2377 obo:IAO_0000115 "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003885"^^xsd:string, "GARD:10255"^^xsd:string, "ICD10CM:G35"^^xsd:string, "ICD9CM:340"^^xsd:string, "MESH:D009103"^^xsd:string, "NCI:C3243"^^xsd:string, "OMIM:612594"^^xsd:string, "OMIM:612595"^^xsd:string, "OMIM:612596"^^xsd:string, "SNOMEDCT_US_2021_03_01:155023009"^^xsd:string, "UMLS_CUI:C0026769"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized multiple sclerosis"@en, "insular sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2377"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060004, obo:DOID_3213 ; skos:exactMatch "MESH:D009103"^^xsd:string . obo:DOID_2378 obo:IAO_0000115 "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003929"^^xsd:string, "MESH:D020529"^^xsd:string, "NCI:C165675"^^xsd:string, "SNOMEDCT_US_2021_03_01:426373005"^^xsd:string, "UMLS_CUI:C0751967"^^xsd:string ; oboInOwl:hasExactSynonym "RRMS"@en, "Relapsing-remitting MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2378"^^xsd:string ; a owl:Class ; rdfs:label "relapsing-remitting multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 . obo:DOID_238 oboInOwl:hasDbXref "MESH:D011681"^^xsd:string, "SNOMEDCT_US_2021_03_01:68633000"^^xsd:string, "UMLS_CUI:C0034124"^^xsd:string ; oboInOwl:hasExactSynonym "Pupillary disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:238"^^xsd:string ; a owl:Class ; rdfs:label "pupil disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001771 ] ) ] . obo:DOID_2381 obo:IAO_0000115 "A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050005"^^xsd:string ; oboInOwl:hasExactSynonym "Cholera due to Vibrio cholerae El Tor (disorder)"@en, "Cholera due to Vibrio cholerae el tor"@en, "Vibrio cholerae 01 biovar cholerae cholera"@en, "Vibrio cholerae O1 biovar eltor cholera"@en, "Vibrio cholerae biovar El Tor cholera"@en, "Vibrio cholerae el tor cholera"@en, "cholera due to Vibrio cholerae 01 biovar cholerae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Cholera due to Vibrio cholerae 01, biovar el tor"@en ; oboInOwl:id "DOID:2381"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio cholerae O1 biovar El Tor cholera"^^xsd:string ; owl:deprecated true . obo:DOID_2382 obo:IAO_0000115 "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6830"^^xsd:string, "ICD10CM:P57"^^xsd:string, "MESH:D007647"^^xsd:string, "NCI:C84799"^^xsd:string, "SNOMEDCT_US_2021_03_01:157135006"^^xsd:string, "UMLS_CUI:C0022610"^^xsd:string ; oboInOwl:hasExactSynonym "bilirubin encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2382"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kernicterus"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_2383 obo:IAO_0000115 "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P59.9"^^xsd:string, "MESH:D007567"^^xsd:string, "NCI:C99246"^^xsd:string, "SNOMEDCT_US_2021_03_01:299968002"^^xsd:string, "UMLS_CUI:C0022353"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal hyperbilirubinemia"@en, "neonatal icterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2383"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal jaundice"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_2384 obo:IAO_0000115 "A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E51.2"^^xsd:string, "MESH:D014899"^^xsd:string, "SNOMEDCT_US_2021_03_01:190627001"^^xsd:string, "UMLS_CUI:C0043121"^^xsd:string ; oboInOwl:hasExactSynonym "Wernicke's disease"@en, "Wernicke's encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2384"^^xsd:string ; a owl:Class ; rdfs:label "Wernicke encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_2385 oboInOwl:hasExactSynonym "Thiamin deficiency (disorder)"@en, "Thiamine deficiency"@en, "Thiamine deficiency, unspecified"@en, "Thiamine deficiency, unspecified (disorder)"@en, "thiamine deficiency"@en, "vitamin B1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2385"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thiamine deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_2388 oboInOwl:hasDbXref "ICD9CM:593.81"^^xsd:string, "NCI:C35338"^^xsd:string, "SNOMEDCT_US_2021_03_01:16934004"^^xsd:string, "UMLS_CUI:C0268790"^^xsd:string ; oboInOwl:hasExactSynonym "renal vascular disease"@en, "vascular disorder of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001184 ] ) ] . obo:DOID_2389 oboInOwl:hasExactSynonym "Fibromuscular dysplasia (morphologic abnormality)"@en, "Fibromuscular hyperplasia of arteries NOS (disorder)"@en, "Fibromuscular hyperplasia of artery"@en, "Fibromuscular hyperplasia of artery (disorder)"@en, "Fibromuscular hyperplasia of artery [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2389"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fibromuscular dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_239 oboInOwl:hasExactSynonym "coredialysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete iridodialysis"^^xsd:string ; owl:deprecated true . obo:DOID_2392 oboInOwl:hasDbXref "NCI:C39860"^^xsd:string, "SNOMEDCT_US_2021_03_01:72815004"^^xsd:string, "UMLS_CUI:C0268837"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cystitis glandularis"@en ; oboInOwl:id "DOID:2392"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glandular cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1680 . obo:DOID_2394 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the ovary."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060070"^^xsd:string, "DOID:2144"^^xsd:string, "DOID:9595"^^xsd:string ; oboInOwl:hasDbXref "GARD:7295"^^xsd:string, "ICD10CM:C56"^^xsd:string, "ICD9CM:183.0"^^xsd:string, "MESH:D010051"^^xsd:string, "NCI:C4984"^^xsd:string, "NCI:C7431"^^xsd:string, "OMIM:167000"^^xsd:string, "OMIM:607893"^^xsd:string, "ORDO:213500"^^xsd:string, "ORDO:213517"^^xsd:string, "SNOMEDCT_US_2021_03_01:123843001"^^xsd:string, "SNOMEDCT_US_2021_03_01:372117006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93934004"^^xsd:string, "UMLS_CUI:C0919267"^^xsd:string, "UMLS_CUI:C1140680"^^xsd:string, "UMLS_CUI:C1299247"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Ovarian tumor"@en, "malignant tumour of ovary"@en, "ovarian neoplasm"@en, "ovary neoplasm"@en, "primary ovarian cancer"@en, "tumor of the Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2394"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "ovarian cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1100, obo:DOID_120 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_2399 oboInOwl:hasExactSynonym "Clear cell tumor of ovary (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2399"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian clear cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_240 oboInOwl:hasDbXref "MESH:D007499"^^xsd:string, "NCI:C34737"^^xsd:string, "SNOMEDCT_US_2021_03_01:85478004"^^xsd:string, "UMLS_CUI:C0022078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:240"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "iris disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3480 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001769 ] ) ] . obo:DOID_2401 obo:IAO_0000115 "A vulva cancer that is located_in the clitoris."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2400"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C51.2"^^xsd:string, "ICD9CM:184.3"^^xsd:string, "NCI:C3557"^^xsd:string, "NCI:C9362"^^xsd:string, "SNOMEDCT_US_2021_03_01:93758009"^^xsd:string, "UMLS_CUI:C0153589"^^xsd:string, "UMLS_CUI:C1333070"^^xsd:string ; oboInOwl:hasExactSynonym "Clitoral Ca"@en, "carcinoma of Clitoris"@en, "clitoral cancer"@en, "malignant neoplasm of clitoris"@en, "malignant tumor of Clitoris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clitoris cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002411 ] ) ] . obo:DOID_2402 oboInOwl:hasExactSynonym "Lymphangiectases (disorder)"@en, "Lymphangiectasis (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2402"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphangiectasis"^^xsd:string ; owl:deprecated true . obo:DOID_2409 obo:IAO_0000115 "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B48.1"^^xsd:string, "ICD9CM:117.0"^^xsd:string, "MESH:D012227"^^xsd:string, "SNOMEDCT_US_2021_03_01:18140003"^^xsd:string, "UMLS_CUI:C0035469"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Rhinosporidium seeberi"@en, "Rhinosporidiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2409"^^xsd:string ; a owl:Class ; rdfs:label "rhinosporidiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050291 . obo:DOID_2410 oboInOwl:hasDbXref "NCI:C5617"^^xsd:string, "SNOMEDCT_US_2021_03_01:254763007"^^xsd:string, "UMLS_CUI:C0346060"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell neoplasm of the skin"@en, "granular cell tumor of skin"@en, "granular cell tumour of skin"@en, "skin granular cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2410"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2411 oboInOwl:hasDbXref "GARD:9618"^^xsd:string, "MESH:D016586"^^xsd:string, "NCI:C3474"^^xsd:string, "SNOMEDCT_US_2021_03_01:12169001"^^xsd:string, "UMLS_CUI:C0085167"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of granular cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2411"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2412 oboInOwl:hasExactSynonym "neural tumor of the skin"@en, "skin tumor of neural origin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2412"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin tumor of neural origin"^^xsd:string ; owl:deprecated true . obo:DOID_2413 oboInOwl:hasExactSynonym "Pigmented spindle cell naevus of Reed"@en, "Spitz (spindle cell) nevus"@en, "epithelioid and spindle cell nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2413"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epithelioid and spindle cell nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2415 oboInOwl:hasAlternativeId "DOID:191"^^xsd:string, "DOID:2418"^^xsd:string, "DOID:5901"^^xsd:string ; oboInOwl:hasExactSynonym "Magnocellular nevus"@en, "Magnocellular nevus (morphologic abnormality)"@en, "Naevus - benign"@en, "benign melanocytic naevus"@en, "benign melanocytic naevus of skin"@en, "benign melanocytic nevus"@en, "benign melanoma"@en, "benign nevus of skin"@en, "cutaneous melanocytic neoplasm"@en, "melanocytic neoplasm"@en, "melanocytic neoplasm (disorder)"@en, "melanocytic neoplasm of skin"@en, "melanocytic tumor of skin (disorder)"@en, "melanocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2415"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign skin melanocytic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2417 oboInOwl:hasExactSynonym "Sutton's naevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2417"^^xsd:string ; a owl:Class ; rdfs:label "obsolete melanocytic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2421 oboInOwl:hasExactSynonym "Cutaneous fibrous tissue neoplasm"@en, "fibrous tissue tumor of skin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2421"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin fibrous tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2423 oboInOwl:hasExactSynonym "HALO NEVI"@en, "HN"@en, "Halo nevus (disorder)"@en, "Halo nevus (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2423"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete halo nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2424 oboInOwl:hasExactSynonym "Dermal cellular nevus (disorder)"@en, "Dermal nevus"@en, "Intradermal nevus (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2424"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intradermal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2425 oboInOwl:hasDbXref "NCI:C4481"^^xsd:string, "SNOMEDCT_US_2021_03_01:254766004"^^xsd:string, "UMLS_CUI:C0346063"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Ganglioneuroma"@en, "Ganglioneuroma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2425"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous ganglioneuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2426 obo:IAO_0000115 "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10638"^^xsd:string, "MESH:D005729"^^xsd:string, "NCI:C6934"^^xsd:string, "SNOMEDCT_US_2020_03_01:78268004"^^xsd:string ; oboInOwl:hasExactSynonym "gangliocytoma of central nervous system"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2426"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gangliocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_2430 oboInOwl:hasDbXref "NCI:C4491"^^xsd:string, "SNOMEDCT_US_2021_03_01:254795008"^^xsd:string, "UMLS_CUI:C0346083"^^xsd:string ; oboInOwl:hasExactSynonym "Glomus skin neoplasm"@en, "Glomus tumor of skin"@en, "Glomus tumour of skin"@en, "skin glomus tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2430"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin glomus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2431, obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2431 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_2431 obo:IAO_0000115 "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005918"^^xsd:string, "NCI:C3060"^^xsd:string, "SNOMEDCT_US_2021_03_01:189193002"^^xsd:string, "UMLS_CUI:C0017653"^^xsd:string ; oboInOwl:hasExactSynonym "Glomus neoplasm"@en, "Glomus tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2431"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3850 . obo:DOID_2433 oboInOwl:hasDbXref "NCI:C4463"^^xsd:string, "SNOMEDCT_US_2021_03_01:126489007"^^xsd:string, "UMLS_CUI:C0345988"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of skin with adnexal differentiation"@en, "neoplasm of the skin Appendage"@en, "skin appendage tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermal appendage tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2434 oboInOwl:hasExactSynonym "Junctional melanocytic nevus of skin (disorder)"@en, "Junctional nevus (morphologic abnormality)"@en, "Junctional nevus of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2434"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intraepidermal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2435 oboInOwl:hasDbXref "NCI:C6750"^^xsd:string, "SNOMEDCT_US_2021_03_01:403970001"^^xsd:string, "UMLS_CUI:C1275226"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Glomangioma"@en, "Glomangioma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2435"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin glomangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2436, obo:DOID_3165 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2436 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_2436 oboInOwl:hasDbXref "MESH:D005918"^^xsd:string, "NCI:C4222"^^xsd:string, "SNOMEDCT_US_2021_03_01:7429002"^^xsd:string, "UMLS_CUI:C0334421"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5238 . obo:DOID_2437 oboInOwl:hasExactSynonym "Compound nevus (morphologic abnormality)"@en, "Compound nevus of skin (disorder)"@en, "compound nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2437"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin compound nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2438 oboInOwl:hasDbXref "NCI:C4475"^^xsd:string, "SNOMEDCT_US_2021_03_01:254735005"^^xsd:string, "UMLS_CUI:C0346041"^^xsd:string ; oboInOwl:hasExactSynonym "dermis tumour"@en, "neoplasm of Dermis"@en, "tumor of dermis"@en, "tumour of dermis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermis tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2441 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the frontal sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6067"^^xsd:string, "UMLS_CUI:C1333646"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Frontal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2441"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1360, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001760 ] . obo:DOID_2444 oboInOwl:hasDbXref "MESH:D006964"^^xsd:string, "SNOMEDCT_US_2021_03_01:10649000"^^xsd:string, "UMLS_CUI:C0020506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2444"^^xsd:string ; a owl:Class ; rdfs:label "hyperpituitarism"^^xsd:string ; rdfs:subClassOf obo:DOID_53 ; skos:exactMatch "MESH:D006964"^^xsd:string . obo:DOID_2446 oboInOwl:hasExactSynonym "Anterior pituitary hyperfunction"@en, "Pituitary gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2446"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gigantism"^^xsd:string ; owl:deprecated true . obo:DOID_2449 obo:IAO_0000115 "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb."^^xsd:string ; oboInOwl:hasDbXref "GARD:5725"^^xsd:string, "MESH:D000172"^^xsd:string, "NCI:C84533"^^xsd:string, "SNOMEDCT_US_2021_03_01:154698000"^^xsd:string, "UMLS_CUI:C0001206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acromegaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2444 . obo:DOID_2450 oboInOwl:hasDbXref "ICD10CM:H34.81"^^xsd:string, "ICD9CM:362.35"^^xsd:string, "MESH:D012170"^^xsd:string, "NCI:C118859"^^xsd:string, "SNOMEDCT_US_2021_03_01:193378003"^^xsd:string, "UMLS_CUI:C0154841"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central retinal vein occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_1727 . obo:DOID_2451 oboInOwl:hasDbXref "GARD:4524"^^xsd:string, "ICD10CM:D68.59"^^xsd:string, "MESH:D018455"^^xsd:string, "NCI:C99026"^^xsd:string, "SNOMEDCT_US_2021_03_01:1563006"^^xsd:string, "UMLS_CUI:C0242666"^^xsd:string ; oboInOwl:hasExactSynonym "Protein S deficiency"@en, "Protein S deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2451"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "protein S deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2452, obo:DOID_620 . obo:DOID_2452 obo:IAO_0000115 "A blood coagulation disease that is characterized by an increased tendency to form clots."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.59"^^xsd:string, "MESH:D019851"^^xsd:string, "NCI:C84479"^^xsd:string, "OMIM:PS188050"^^xsd:string, "SNOMEDCT_US_2021_03_01:191302007"^^xsd:string, "UMLS_CUI:C0398623"^^xsd:string ; oboInOwl:hasExactSynonym "hypercoagulability state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thrombophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 ; skos:exactMatch "MESH:D019851"^^xsd:string . obo:DOID_2455 obo:IAO_0000115 "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.52"^^xsd:string, "ICD9CM:372.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193871000"^^xsd:string, "UMLS_CUI:C0155149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2455"^^xsd:string ; a owl:Class ; rdfs:label "angular blepharoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2456 . obo:DOID_2456 obo:IAO_0000115 "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.5"^^xsd:string, "ICD9CM:372.2"^^xsd:string, "NCI:C34430"^^xsd:string, "SNOMEDCT_US_2021_03_01:155164001"^^xsd:string, "UMLS_CUI:C0005743"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blepharoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_2457 oboInOwl:hasDbXref "GARD:8445"^^xsd:string, "MESH:D003233"^^xsd:string, "NCI:C34507"^^xsd:string, "SNOMEDCT_US_2021_03_01:231857004"^^xsd:string, "UMLS_CUI:C0009769"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2457"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "giant papillary conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2458 . obo:DOID_2458 oboInOwl:hasDbXref "NCI:C35616"^^xsd:string, "SNOMEDCT_US_2021_03_01:416878008"^^xsd:string, "UMLS_CUI:C0854165"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2458"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6195 . obo:DOID_2460 oboInOwl:hasDbXref "ICD10CM:H27.12"^^xsd:string, "ICD9CM:379.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:194160006"^^xsd:string, "UMLS_CUI:C0155372"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2460"^^xsd:string ; a owl:Class ; rdfs:label "anterior dislocation of lens"^^xsd:string ; rdfs:subClassOf obo:DOID_1242 . obo:DOID_2462 oboInOwl:hasDbXref "NCI:C35170"^^xsd:string, "SNOMEDCT_US_2021_03_01:57534004"^^xsd:string, "UMLS_CUI:C0154833"^^xsd:string ; oboInOwl:hasExactSynonym "retina circulation disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2462"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_2467 oboInOwl:hasExactSynonym "Psychogenic confusion"@en, "Psychogenic twilight state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2467"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reactive confusion"^^xsd:string ; owl:deprecated true . obo:DOID_2468 obo:IAO_0000115 "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000677"^^xsd:string, "ICD9CM:298.8"^^xsd:string, "UMLS_CUI:C0029516"^^xsd:string ; oboInOwl:hasExactSynonym "mental or behavioural disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2468"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "psychotic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_2469 oboInOwl:hasExactSynonym "Erysipelas in swine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2469"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete swine erysipelas"^^xsd:string ; owl:deprecated true . obo:DOID_2470 oboInOwl:hasExactSynonym "Erysipeloid (disorder)"@en, "Erysipelothrix disease (disorder)"@en, "Seal finger (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2470"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Erysipelothrix infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2471 oboInOwl:hasExactSynonym "Infection due to E. rhusiopathiae"@en, "Infection due to Erysipelothrix rhusiopathiae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2471"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Erysipelothrix rhusiopathiae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2473 obo:IAO_0000115 "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050137"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:118"^^xsd:string, "SNOMEDCT_US_2021_03_01:78999002"^^xsd:string, "UMLS_CUI:C0029119"^^xsd:string ; oboInOwl:hasExactSynonym "Opportunistic mycoses"@en, "Opportunistic mycosis"@en, "opportunistic systemic mycoses"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2473"^^xsd:string ; a owl:Class ; rdfs:label "opportunistic mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050136, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_2474 oboInOwl:hasDbXref "GARD:7854"^^xsd:string, "ICD10CM:H10.44"^^xsd:string, "ICD9CM:372.13"^^xsd:string, "MESH:D003233"^^xsd:string, "NCI:C34508"^^xsd:string, "SNOMEDCT_US_2021_03_01:193867003"^^xsd:string, "UMLS_CUI:C0009773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2474"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vernal conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2475 . obo:DOID_2475 oboInOwl:hasDbXref "ICD10CM:H10.4"^^xsd:string, "ICD9CM:372.1"^^xsd:string, "NCI:C35197"^^xsd:string, "SNOMEDCT_US_2021_03_01:155163007"^^xsd:string, "UMLS_CUI:C0155145"^^xsd:string ; oboInOwl:hasExactSynonym "chronic Conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2475"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6195 . obo:DOID_2476 obo:IAO_0000115 "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."^^xsd:string ; oboInOwl:hasDbXref "GARD:6637"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "ICD9CM:334.1"^^xsd:string, "MESH:D015419"^^xsd:string, "NCI:C140267"^^xsd:string, "OMIM:PS303350"^^xsd:string, "SNOMEDCT_US_2021_03_01:267692008"^^xsd:string, "UMLS_CUI:C0037773"^^xsd:string ; oboInOwl:hasExactSynonym "French settlement disease"@en, "Strumpell-Lorrain disease"@en, "familial spastic paraplegia"@en, "hereditary spastic paraparesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2476"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hereditary spastic paraplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_607, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000141 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000349 ] . obo:DOID_2477 oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "MESH:D015417"^^xsd:string, "NCI:C75467"^^xsd:string, "SNOMEDCT_US_2021_03_01:128202008"^^xsd:string, "UMLS_CUI:C0027888"^^xsd:string ; oboInOwl:hasExactSynonym "HSMN"@en, "HSMN - Hereditary sensory and motor neuropathy"@en, "Hereditary motor and sensory neuropathy"@en, "neuropathic muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "motor peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_2479 obo:IAO_0000115 "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H81.4"^^xsd:string, "ICD9CM:386.2"^^xsd:string, "MESH:D014717"^^xsd:string, "SNOMEDCT_US_2021_03_01:20425006"^^xsd:string, "UMLS_CUI:C0155503"^^xsd:string ; oboInOwl:hasExactSynonym "Vertigo of central origin"@en, "central vestibular vertigo"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2479"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system origin vertigo"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_248 obo:IAO_0000115 "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:246"^^xsd:string ; oboInOwl:hasDbXref "MESH:D014134"^^xsd:string, "NCI:C3419"^^xsd:string, "NCI:C6049"^^xsd:string, "SNOMEDCT_US_2021_03_01:126703006"^^xsd:string, "UMLS_CUI:C0040582"^^xsd:string, "UMLS_CUI:C1336772"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the Trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:248"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_127, obo:DOID_3225, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_2481 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2481"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infantile epileptic encephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_2485 oboInOwl:hasDbXref "ICD9CM:275.3"^^xsd:string, "MESH:D010760"^^xsd:string, "NCI:C97095"^^xsd:string, "SNOMEDCT_US_2021_03_01:190858002"^^xsd:string, "UMLS_CUI:C0031707"^^xsd:string ; oboInOwl:hasExactSynonym "Phosphorus disorder"@en, "disorder of phosphorus metabolism"@en, "phosphorus metabolism disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2485"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "phosphorus metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050032 . obo:DOID_2487 oboInOwl:hasExactSynonym "hypercholesteremia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hypercholesterolaemia"@en ; oboInOwl:id "DOID:2487"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypercholesterolemia"^^xsd:string ; owl:deprecated true . obo:DOID_2490 oboInOwl:hasDbXref "ICD9CM:742"^^xsd:string, "SNOMEDCT_US_2021_03_01:204018008"^^xsd:string, "UMLS_CUI:C0158538"^^xsd:string ; oboInOwl:hasExactSynonym "congenital neurologic anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2490"^^xsd:string ; a owl:Class ; rdfs:label "congenital nervous system abnormality"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] . obo:DOID_2491 obo:IAO_0000115 "A neuropathy that involves damage to nerves of the peripheral nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10596"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:356.2"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C3501"^^xsd:string, "SNOMEDCT_US_2021_03_01:193163001"^^xsd:string, "SNOMEDCT_US_2021_03_01:95662005"^^xsd:string, "UMLS_CUI:C0151313"^^xsd:string, "UMLS_CUI:C0699739"^^xsd:string ; oboInOwl:hasExactSynonym "Sensory neuropathy"@en, "peripheral Sensory Neuropathy"@en, "sensory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sensory peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_2492 oboInOwl:hasExactSynonym "Hereditary peripheral neuropathy (disorder)"@en, "Hereditary peripheral neuropathy NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2492"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary peripheral neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_2493 oboInOwl:hasDbXref "MESH:D020252"^^xsd:string, "NCI:C84724"^^xsd:string, "SNOMEDCT_US_2021_03_01:412795008"^^xsd:string, "UMLS_CUI:C0267211"^^xsd:string ; oboInOwl:hasExactSynonym "Watermelon stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2493"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric antral vascular ectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_1271 . obo:DOID_2494 obo:IAO_0000115 "A vascular disease that is characterized as a small vascular malformation of the gut."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12071"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016888"^^xsd:string, "SNOMEDCT_US_2021_03_01:71072006"^^xsd:string, "UMLS_CUI:C0085411"^^xsd:string ; oboInOwl:hasExactSynonym "angiodysplasia of stomach and duodenum with hemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2494"^^xsd:string ; a owl:Class ; rdfs:label "angiodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; skos:exactMatch "MESH:D016888"^^xsd:string . obo:DOID_2495 oboInOwl:hasDbXref "NCI:C4390"^^xsd:string, "SNOMEDCT_US_2021_03_01:5050001"^^xsd:string, "UMLS_CUI:C0343082"^^xsd:string ; oboInOwl:hasExactSynonym "Senile hemangioma"@en, "Senile naevus of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2495"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "senile angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_2497 oboInOwl:hasDbXref "ICD9CM:521.31"^^xsd:string, "UMLS_CUI:C1456161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2497"^^xsd:string ; a owl:Class ; rdfs:label "enamel erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_2498 . obo:DOID_2498 oboInOwl:hasAlternativeId "DOID:11509"^^xsd:string, "DOID:12687"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K03.2"^^xsd:string, "ICD9CM:521.3"^^xsd:string, "MESH:D014077"^^xsd:string, "SNOMEDCT_US_2021_03_01:82212003"^^xsd:string, "UMLS_CUI:C0040436"^^xsd:string ; oboInOwl:hasExactSynonym "generalized erosion"@en, "localized erosion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2498"^^xsd:string ; a owl:Class ; rdfs:label "tooth erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_250 oboInOwl:hasExactSynonym "chronic Encephalopathy"@en, "chronic brain damage"@en, "chronic brain syndrome (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:250"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic brain damage"^^xsd:string ; owl:deprecated true . obo:DOID_2503 obo:IAO_0000115 "A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2503"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related vulvovaginal candidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_2508 obo:IAO_0000115 "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13377"^^xsd:string ; oboInOwl:hasDbXref "GARD:7730"^^xsd:string, "ICD10CM:M31.4"^^xsd:string, "ICD9CM:446.7"^^xsd:string, "MESH:D001015"^^xsd:string, "MESH:D013625"^^xsd:string, "NCI:C34391"^^xsd:string, "NCI:C35062"^^xsd:string, "OMIM:207600"^^xsd:string, "SNOMEDCT_US_2021_03_01:359789008"^^xsd:string, "SNOMEDCT_US_2021_03_01:42153001"^^xsd:string, "UMLS_CUI:C0003490"^^xsd:string, "UMLS_CUI:C0039263"^^xsd:string ; oboInOwl:hasExactSynonym "Aortic Arch syndrome"@en, "Aortic arch arteritis"@en, "Aortic arch syndrome"@en, "Idiopathic aortitis"@en, "Takayasu arteritis"@en, "Takayasu's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2508"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Takayasu's arteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004363 ] . obo:DOID_251 oboInOwl:hasDbXref "ICD9CM:291.89"^^xsd:string, "UMLS_CUI:C1456283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:251"^^xsd:string ; a owl:Class ; rdfs:label "alcohol-induced mental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8646, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_2510 obo:IAO_0000115 "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020232"^^xsd:string, "NCI:C84802"^^xsd:string, "SNOMEDCT_US_2021_03_01:10651001"^^xsd:string, "UMLS_CUI:C0270707"^^xsd:string ; oboInOwl:hasExactSynonym "Klver-Bucy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2510"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kluver-Bucy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_2512 obo:IAO_0000115 "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:7166"^^xsd:string, "MEDDRA:10062804"^^xsd:string, "MESH:D001478"^^xsd:string, "NCI:C2892"^^xsd:string, "OMIM:109400"^^xsd:string, "ORDO:377"^^xsd:string, "SNOMEDCT_US_2021_03_01:69408002"^^xsd:string, "UMLS_CUI:C0004779"^^xsd:string ; oboInOwl:hasExactSynonym "Gorlin syndrome"@en, "NBCCS"@en, "basal cell nevus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2512"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nevoid basal cell carcinoma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] . obo:DOID_2513 obo:IAO_0000115 "A skin carcinoma affecting basal cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4275"^^xsd:string, "DOID:4276"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004193"^^xsd:string, "KEGG:05217"^^xsd:string, "MESH:D018295"^^xsd:string, "NCI:C156767"^^xsd:string, "NCI:C3784"^^xsd:string, "NCI:C7586"^^xsd:string, "SNOMEDCT_US_2021_03_01:127570002"^^xsd:string, "SNOMEDCT_US_2021_03_01:154507009"^^xsd:string, "SNOMEDCT_US_2021_03_01:252995000"^^xsd:string, "UMLS_CUI:C0007117"^^xsd:string, "UMLS_CUI:C0206710"^^xsd:string, "UMLS_CUI:C1368295"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell cancer"@en, "Basal cell carcinoma of skin"@en, "Basal cell neoplasm"@en, "Basal cell tumor"@en, "Epithelioma basal cell"@en, "Rodent ulcer"@en, "malignant Basal cell neoplasm"@en, "malignant basal cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2513"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] ) ] . obo:DOID_2514 oboInOwl:hasExactSynonym "Meningococcal optic neuritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2514"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal optic neuritis"^^xsd:string ; owl:deprecated true . obo:DOID_2515 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2515"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2516 oboInOwl:hasDbXref "NCI:C5432"^^xsd:string, "SNOMEDCT_US_2021_03_01:445513004"^^xsd:string, "UMLS_CUI:C1334237"^^xsd:string ; oboInOwl:hasExactSynonym "intracranial Cavernoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2516"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial cavernous angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2517 . obo:DOID_2517 oboInOwl:hasDbXref "ICD10CM:D18.02"^^xsd:string, "ICD9CM:228.02"^^xsd:string, "NCI:C3633"^^xsd:string, "SNOMEDCT_US_2021_03_01:93468003"^^xsd:string, "UMLS_CUI:C0154050"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of intracranial Structure"@en, "hemangioma of intracranial structure"@en, "hemangioma of intracranial structures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2517"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial structure hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0013411 ] . obo:DOID_2518 oboInOwl:hasDbXref "ICD10CM:N45.2"^^xsd:string, "MESH:D009920"^^xsd:string, "NCI:C97145"^^xsd:string, "SNOMEDCT_US_2021_03_01:367112009"^^xsd:string, "UMLS_CUI:C0029191"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammation of testis"@en, "Orchititis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2518"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_2519 oboInOwl:hasDbXref "MESH:D013733"^^xsd:string, "NCI:C26890"^^xsd:string, "SNOMEDCT_US_2021_03_01:236763001"^^xsd:string, "UMLS_CUI:C0039584"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of testis"@en, "testis disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2519"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2277, obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] ) ] . obo:DOID_252 obo:IAO_0000115 "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:291.9"^^xsd:string, "MESH:D011604"^^xsd:string, "SNOMEDCT_US_2021_03_01:154852003"^^xsd:string, "UMLS_CUI:C0033936"^^xsd:string ; oboInOwl:hasExactSynonym "Alcoholic psychoses"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:252"^^xsd:string ; a owl:Class ; rdfs:label "alcoholic psychosis"^^xsd:string ; rdfs:subClassOf obo:DOID_251, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_2524 oboInOwl:hasAlternativeId "DOID:2523"^^xsd:string, "DOID:2813"^^xsd:string, "DOID:2865"^^xsd:string ; oboInOwl:hasExactSynonym "abnormal glucose tolerance of mother with delivery"@en, "antepartum abnormal glucose tolerance of mother"@en, "postpartum abnormal glucose tolerance of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2524"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_2526 obo:IAO_0000115 "A prostate carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C2919"^^xsd:string, "SNOMEDCT_US_2021_03_01:399490008"^^xsd:string, "UMLS_CUI:C0007112"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2526"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10286, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_2527 obo:IAO_0000115 "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009401"^^xsd:string, "SNOMEDCT_US_2021_03_01:90708001"^^xsd:string, "UMLS_CUI:C0027720"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2527"^^xsd:string ; a owl:Class ; rdfs:label "nephrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_576 . obo:DOID_2528 obo:IAO_0000115 "A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work."^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid metaplasia (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2528"^^xsd:string ; a owl:Class ; rdfs:label "obsolete myeloid metaplasia"^^xsd:string ; owl:deprecated true . obo:DOID_2529 oboInOwl:hasAlternativeId "DOID:0000815"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D73"^^xsd:string, "ICD9CM:289.50"^^xsd:string, "MESH:D013158"^^xsd:string, "NCI:C35823"^^xsd:string, "SNOMEDCT_US_2021_03_01:51244008"^^xsd:string, "UMLS_CUI:C0037997"^^xsd:string ; oboInOwl:hasExactSynonym "Dyssplenism"@en, "Spleen disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2529"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "splenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_75 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] ) ] . obo:DOID_2530 oboInOwl:hasDbXref "ICD10CM:D73.3"^^xsd:string, "NCI:C35347"^^xsd:string, "SNOMEDCT_US_2021_03_01:82053000"^^xsd:string, "UMLS_CUI:C0272412"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2530"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "splenic abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_2531 obo:IAO_0000115 "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1034"^^xsd:string, "DOID:2532"^^xsd:string ; oboInOwl:hasDbXref "MESH:D019337"^^xsd:string, "NCI:C27134"^^xsd:string, "SNOMEDCT_US_2021_03_01:414388001"^^xsd:string, "UMLS_CUI:C0376544"^^xsd:string ; oboInOwl:hasExactSynonym "Hematologic malignancy"@en, "Hematologic neoplasm"@en, "Hematological tumors"@en, "blood cancer"@en, "hematopoietic and lymphoid system tumor"@en, "hematopoietic cancer"@en, "hematopoietic neoplasm"@en, "hematopoietic tumors"@en, "malignant hematopoietic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2531"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "hematologic cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_74 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002390 ] ) ] . obo:DOID_2533 oboInOwl:hasDbXref "GARD:9973"^^xsd:string, "ICD10CM:D73.5"^^xsd:string, "MESH:D013159"^^xsd:string, "SNOMEDCT_US_2021_03_01:22996003"^^xsd:string, "UMLS_CUI:C0037998"^^xsd:string ; oboInOwl:hasExactSynonym "Splenic infarct"@en, "Splenic infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2533"^^xsd:string ; a owl:Class ; rdfs:label "splenic infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_2536 oboInOwl:hasDbXref "ICD10CM:G61.81"^^xsd:string, "ICD9CM:357.81"^^xsd:string, "MESH:D020277"^^xsd:string, "NCI:C84636"^^xsd:string, "SNOMEDCT_US_2021_03_01:128209004"^^xsd:string, "UMLS_CUI:C0393819"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2536"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic inflammatory demyelinating polyneuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2537 . obo:DOID_2537 oboInOwl:hasDbXref "ICD9CM:357"^^xsd:string, "SNOMEDCT_US_2021_03_01:193172009"^^xsd:string, "UMLS_CUI:C0154758"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2537"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory and toxic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_2538 obo:IAO_0000115 "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients."^^xsd:string ; oboInOwl:hasDbXref "GARD:6855"^^xsd:string, "ICD10CM:G40.8"^^xsd:string, "MESH:D018887"^^xsd:string, "NCI:C84806"^^xsd:string, "OMIM:245570"^^xsd:string, "ORDO:98818"^^xsd:string, "SNOMEDCT_US_2021_03_01:230438007"^^xsd:string, "UMLS_CUI:C0282512"^^xsd:string ; oboInOwl:hasExactSynonym "acquired epileptic aphasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2538"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Landau-Kleffner syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_254 oboInOwl:hasDbXref "ICD10CM:D18.03"^^xsd:string, "ICD9CM:228.04"^^xsd:string, "NCI:C3635"^^xsd:string, "SNOMEDCT_US_2021_03_01:93467008"^^xsd:string, "UMLS_CUI:C0154052"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of intra-abdominal structures"@en, "hemangioma, Intra-abdominal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:254"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of intra-abdominal structure"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_2544 obo:IAO_0000115 "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7760"^^xsd:string, "SNOMEDCT_US_2021_03_01:111498005"^^xsd:string, "UMLS_CUI:C0270849"^^xsd:string ; oboInOwl:hasExactSynonym "Extratemporal epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2544"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extratemporal epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_2545 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2545"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital epilepsy"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_2546 oboInOwl:hasExactSynonym "Atonic epilepsy"@en, "Epileptic seizures - atonic (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2546"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atonic epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_2547 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2547"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intractable epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_2548 obo:IAO_0000115 "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020195"^^xsd:string, "NCI:C85041"^^xsd:string, "SNOMEDCT_US_2021_03_01:79745005"^^xsd:string, "UMLS_CUI:C0270857"^^xsd:string ; oboInOwl:hasExactSynonym "epilepsy, sensory-induced"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2548"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reflex epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050706 . obo:DOID_2549 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete aggravated epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_255 obo:IAO_0000115 "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D18.0"^^xsd:string, "ICD9CM:228.00"^^xsd:string, "MESH:D006391"^^xsd:string, "NCI:C3085"^^xsd:string, "SNOMEDCT_US_2021_03_01:154625006"^^xsd:string, "UMLS_CUI:C0018916"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:255"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060091, obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007798 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] ) ] . obo:DOID_2550 oboInOwl:hasDbXref "NCI:C4687"^^xsd:string, "SNOMEDCT_US_2021_03_01:230449001"^^xsd:string, "UMLS_CUI:C0393724"^^xsd:string ; oboInOwl:hasExactSynonym "Tactile epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2550"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tactile epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2548 . obo:DOID_2551 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2551"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anosognostic epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_2555 oboInOwl:hasDbXref "MESH:D020293"^^xsd:string, "NCI:C34653"^^xsd:string, "UMLS_CUI:C0018202"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2555"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous angiitis"^^xsd:string ; rdfs:subClassOf obo:DOID_865 . obo:DOID_2556 obo:IAO_0000115 "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:7417"^^xsd:string, "ICD10CM:M94.1"^^xsd:string, "MESH:D011081"^^xsd:string, "NCI:C157268"^^xsd:string, "SNOMEDCT_US_2021_03_01:72275000"^^xsd:string, "UMLS_CUI:C0032453"^^xsd:string ; oboInOwl:hasExactSynonym "Chondromalacia, systemic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2556"^^xsd:string ; a owl:Class ; rdfs:label "relapsing polychondritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_2557, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_2557 obo:IAO_0000115 "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M94.2"^^xsd:string, "ICD9CM:733.92"^^xsd:string, "MESH:D002357"^^xsd:string, "SNOMEDCT_US_2021_03_01:63198006"^^xsd:string, "UMLS_CUI:C0085700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2557"^^xsd:string ; a owl:Class ; rdfs:label "chondromalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_6227 . obo:DOID_2559 obo:IAO_0000115 "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F11.2"^^xsd:string, "ICD9CM:304.00"^^xsd:string, "MESH:D009293"^^xsd:string, "SNOMEDCT_US_2021_03_01:75544000"^^xsd:string, "UMLS_CUI:C0524662"^^xsd:string ; oboInOwl:hasExactSynonym "Opioid type dependence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2559"^^xsd:string ; a owl:Class ; rdfs:label "opiate dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9974 . obo:DOID_256 oboInOwl:hasDbXref "NCI:C8541"^^xsd:string, "SNOMEDCT_US_2021_03_01:93472004"^^xsd:string, "UMLS_CUI:C0685201"^^xsd:string ; oboInOwl:hasExactSynonym "Splenic hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:256"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of spleen"^^xsd:string ; rdfs:subClassOf obo:DOID_2529, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] . obo:DOID_2560 obo:IAO_0000115 "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009021"^^xsd:string, "SNOMEDCT_US_2021_03_01:286934009"^^xsd:string, "UMLS_CUI:C0026552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2560"^^xsd:string ; a owl:Class ; rdfs:label "morphine dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_2559 . obo:DOID_2562 oboInOwl:hasDbXref "MESH:D010482"^^xsd:string, "NCI:C34913"^^xsd:string, "SNOMEDCT_US_2021_03_01:34597006"^^xsd:string, "UMLS_CUI:C0031024"^^xsd:string ; oboInOwl:hasExactSynonym "Apical abscess"@en, "Dentoalveolar abscess"@en, "Periapical abscess"@en, "Suppurative apical periodontitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "suppurative periapical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_2563 oboInOwl:hasExactSynonym "Septicemia due to Serratia (disorder)"@en, "Septicemia due to serratia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2563"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Serratia septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_2565 obo:IAO_0000115 "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.55"^^xsd:string, "ICD9CM:371.55"^^xsd:string, "MESH:D003317"^^xsd:string, "NCI:C34793"^^xsd:string, "OMIM:217800"^^xsd:string, "SNOMEDCT_US_2021_03_01:60258001"^^xsd:string, "UMLS_CUI:C0024439"^^xsd:string ; oboInOwl:hasExactSynonym "Fehr corneal dystrophy"@en, "MACULAR DYSTROPHY, CORNEAL, 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2565"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macular corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060442 . obo:DOID_2566 oboInOwl:hasAlternativeId "DOID:8944"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "ICD9CM:371.5"^^xsd:string, "MESH:D003317"^^xsd:string, "NCI:C34512"^^xsd:string, "NCI:C34513"^^xsd:string, "SNOMEDCT_US_2021_03_01:5587004"^^xsd:string, "SNOMEDCT_US_2021_03_01:77797009"^^xsd:string, "UMLS_CUI:C0010035"^^xsd:string, "UMLS_CUI:C0010036"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2566"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_2567 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2567"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Enterobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2568 obo:IAO_0000115 "A cervix disease that is characterized by inflammation of the cervix."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10110"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N72"^^xsd:string, "ICD9CM:616.0"^^xsd:string, "MESH:D002575"^^xsd:string, "NCI:C26716"^^xsd:string, "SNOMEDCT_US_2021_03_01:198199009"^^xsd:string, "SNOMEDCT_US_2021_03_01:237081003"^^xsd:string, "UMLS_CUI:C0007860"^^xsd:string, "UMLS_CUI:C0007861"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2568"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2253, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_2569 oboInOwl:hasDbXref "ICD9CM:362.57"^^xsd:string, "MESH:D015593"^^xsd:string, "SNOMEDCT_US_2021_03_01:141199000"^^xsd:string, "UMLS_CUI:C0035312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2569"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "retinal drusen"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_2570 oboInOwl:hasDbXref "MESH:D015620"^^xsd:string, "SNOMEDCT_US_2021_03_01:127070008"^^xsd:string, "UMLS_CUI:C0019613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2570"^^xsd:string ; a owl:Class ; rdfs:label "malignant histiocytic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3405 . obo:DOID_2571 obo:IAO_0000115 "A histiocytosis that is characterized by clonal proliferation of Langerhans cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10617"^^xsd:string, "DOID:10618"^^xsd:string, "DOID:10620"^^xsd:string, "DOID:10623"^^xsd:string, "DOID:10624"^^xsd:string, "DOID:10625"^^xsd:string, "DOID:2553"^^xsd:string, "DOID:2554"^^xsd:string, "DOID:9582"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C96.0"^^xsd:string, "ICD10CM:C96.6"^^xsd:string, "ICD9CM:202.5"^^xsd:string, "MESH:C538636"^^xsd:string, "MESH:D006646"^^xsd:string, "NCI:C3107"^^xsd:string, "NCI:C3160"^^xsd:string, "OMIM:246400"^^xsd:string, "OMIM:604856"^^xsd:string, "SNOMEDCT_US_2021_03_01:154583006"^^xsd:string, "SNOMEDCT_US_2021_03_01:234439008"^^xsd:string, "UMLS_CUI:C0019621"^^xsd:string, "UMLS_CUI:C0023381"^^xsd:string ; oboInOwl:hasExactSynonym "Histiocytosis X"@en, "Langerhan's cell histiocytosis"@en, "Langerhans cell granulomatosis"@en, "Letterer-Siwe disease"@en, "Letterer-Siwe disease involving intra-abdominal lymph nodes"@en, "Letterer-Siwe disease involving intrapelvic lymph nodes"@en, "Letterer-Siwe disease involving intrathoracic lymph nodes"@en, "Letterer-Siwe disease involving lymph nodes of axilla and upper limb"@en, "Letterer-Siwe disease involving lymph nodes of head, face and neck"@en, "Letterer-Siwe disease involving lymph nodes of head, face, and neck"@en, "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb"@en, "Letterer-Siwe disease involving lymph nodes of multiple sites"@en, "Letterer-Siwe disease involving spleen"@en, "Letterer-Siwe disease of intra-abdominal lymph nodes"@en, "Letterer-Siwe disease of intrapelvic lymph nodes"@en, "Letterer-Siwe disease of intrathoracic lymph nodes"@en, "Letterer-Siwe disease of lymph nodes of axilla and upper limb"@en, "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb"@en, "Letterer-Siwe disease of lymph nodes of head, face and neck"@en, "Letterer-Siwe disease of lymph nodes of head, face and/or neck"@en, "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb"@en, "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb"@en, "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb"@en, "Letterer-Siwe disease of lymph nodes of multiple sites"@en, "Letterer-Siwe disease of spleen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2571"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Langerhans-cell histiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3405, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0006530 ] . obo:DOID_2573 oboInOwl:hasExactSynonym "Drug-induced delirium (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2573"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug-induced delirium"^^xsd:string ; owl:deprecated true . obo:DOID_2574 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, uncontrolled, with renal manifestations"@en, "Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2574"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_2575 obo:IAO_0000115 "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:304.11"^^xsd:string, "UMLS_CUI:C0154482"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2575"^^xsd:string ; a owl:Class ; rdfs:label "barbiturate dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9974 . obo:DOID_2580 obo:IAO_0000115 "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity."^^xsd:string ; oboInOwl:hasDbXref "GARD:13160"^^xsd:string, "ICD10CM:E71.540"^^xsd:string, "MESH:D018902"^^xsd:string, "NCI:C85047"^^xsd:string, "OMIM:PS215100"^^xsd:string, "ORDO:177"^^xsd:string, "SNOMEDCT_US_2021_03_01:56692003"^^xsd:string, "UMLS_CUI:C0282529"^^xsd:string ; oboInOwl:hasExactSynonym "Chondrodysplasia Punctata, Rhizomelic Form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2580"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "rhizomelic chondrodysplasia punctata"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2581 obo:IAO_0000115 "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography."^^xsd:string ; oboInOwl:hasDbXref "GARD:8542"^^xsd:string, "ICD10CM:Q77.3"^^xsd:string, "MESH:D002806"^^xsd:string, "NCI:C84632"^^xsd:string, "OMIM:215105"^^xsd:string, "ORDO:93442"^^xsd:string, "SNOMEDCT_US_2021_03_01:205486004"^^xsd:string, "UMLS_CUI:C0008445"^^xsd:string ; oboInOwl:hasExactSynonym "Chondrodysplasia punctata congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2581"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "DeObs MGI."^^xsd:string ; rdfs:label "chondrodysplasia punctata"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ; skos:narrowMatch "MESH:D002806"^^xsd:string . obo:DOID_2582 oboInOwl:hasDbXref "GARD:363"^^xsd:string, "MESH:D020642"^^xsd:string, "NCI:C84526"^^xsd:string, "OMIM:614097"^^xsd:string, "SNOMEDCT_US_2021_03_01:190954001"^^xsd:string, "UMLS_CUI:C0268419"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of catalase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2582"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acatalasia"^^xsd:string ; rdfs:subClassOf obo:DOID_906 . obo:DOID_2583 obo:IAO_0000115 "A B cell deficiency that is caused by a reduction in all types of gamma globulins."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:618"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.1"^^xsd:string, "ICD9CM:279.00"^^xsd:string, "MESH:D000361"^^xsd:string, "NCI:C26931"^^xsd:string, "OMIM:601495"^^xsd:string, "OMIM:612692"^^xsd:string, "OMIM:613500"^^xsd:string, "OMIM:613501"^^xsd:string, "OMIM:615214"^^xsd:string, "OMIM:PS601495"^^xsd:string, "SNOMEDCT_US_2021_03_01:119250001"^^xsd:string, "SNOMEDCT_US_2021_03_01:267512002"^^xsd:string, "UMLS_CUI:C0001768"^^xsd:string, "UMLS_CUI:C0086438"^^xsd:string ; oboInOwl:hasExactSynonym "IGHM"@en, "hypogammaglobulinemia"@en, "mu heavy chain deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2583"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "agammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2115 ; skos:exactMatch "MESH:D000361"^^xsd:string . obo:DOID_2584 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2584"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_2585 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2585"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of segmental hyalinosis"^^xsd:string ; owl:deprecated true . obo:DOID_2586 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2586"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_2587 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2587"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_2588 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Persistent Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2588"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of persistent glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_2589 oboInOwl:hasExactSynonym "Nephrotic syndrome with lesion of membranous glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2589"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of membranous glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_259 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:259"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abortion complicated by embolism"^^xsd:string ; owl:deprecated true . obo:DOID_2590 obo:IAO_0000115 "A nephrotic syndrome that has_material_basis_in genetic mutations."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04"^^xsd:string, "MESH:C535761"^^xsd:string, "NCI:C35337"^^xsd:string, "OMIM:PS256300"^^xsd:string, "SNOMEDCT_US_2021_03_01:48796009"^^xsd:string, "UMLS_CUI:C3501848"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2590"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial nephrotic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_1184, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_2591 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Lobular Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2591"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of lobular glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_2592 oboInOwl:hasExactSynonym "Nephrotic syndrome with Lesion of Focal Glomerulosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2592"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of focal glomerulosclerosis"^^xsd:string ; owl:deprecated true . obo:DOID_2595 oboInOwl:hasDbXref "ICD10CM:C32.0"^^xsd:string, "ICD9CM:161.0"^^xsd:string, "NCI:C3544"^^xsd:string, "SNOMEDCT_US_2021_03_01:187841006"^^xsd:string, "UMLS_CUI:C0153483"^^xsd:string ; oboInOwl:hasExactSynonym "Ca larynx - glottis"@en, "malignant tumor of glottis"@en, "malignant tumor of the Glottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2595"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glottis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2596 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002486 ] ) ] . obo:DOID_2596 obo:IAO_0000115 "A respiratory system cancer that is located_in the larynx."^^xsd:string ; oboInOwl:hasDbXref "GARD:6862"^^xsd:string, "ICD10CM:C32"^^xsd:string, "ICD9CM:161"^^xsd:string, "MESH:D007822"^^xsd:string, "NCI:C7484"^^xsd:string, "SNOMEDCT_US_2021_03_01:93859007"^^xsd:string, "UMLS_CUI:C0007107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2596"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "larynx cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_786 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] ) ] . obo:DOID_2597 oboInOwl:hasDbXref "NCI:C4425"^^xsd:string, "SNOMEDCT_US_2021_03_01:126693009"^^xsd:string, "UMLS_CUI:C0345713"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of glottis"@en, "tumor of the Glottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2597"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glottis neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2598 . obo:DOID_2598 oboInOwl:hasDbXref "MESH:D007822"^^xsd:string, "NCI:C3156"^^xsd:string, "SNOMEDCT_US_2021_03_01:126692004"^^xsd:string, "UMLS_CUI:C0023055"^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal tumor"@en, "larynx neoplasm"@en, "neoplasm of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2598"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_786 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] ) ] . obo:DOID_2599 oboInOwl:hasDbXref "NCI:C4923"^^xsd:string, "SNOMEDCT_US_2021_03_01:372103002"^^xsd:string, "UMLS_CUI:C0740083"^^xsd:string ; oboInOwl:hasExactSynonym "Glottic carcinoma"@en, "carcinoma of glottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2599"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glottis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2595, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002486 ] . obo:DOID_26 obo:IAO_0000115 "An endocrine system disease that is located_in the pancreas."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K86.8"^^xsd:string, "ICD9CM:577.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:197566002"^^xsd:string, "UMLS_CUI:C0029771"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:26"^^xsd:string ; a owl:Class ; rdfs:label "pancreas disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_260 oboInOwl:hasDbXref "ICD10CM:C18.3"^^xsd:string, "ICD9CM:153.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:93826009"^^xsd:string, "UMLS_CUI:C0153433"^^xsd:string ; oboInOwl:hasExactSynonym "Ca hepatic flexure - colon"@en, "malignant neoplasm of hepatic flexure"@en, "malignant tumor of hepatic flexure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:260"^^xsd:string ; a owl:Class ; rdfs:label "hepatic flexure cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_218 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0022277 ] ) ] . obo:DOID_2600 obo:IAO_0000115 "A larynx cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4855"^^xsd:string, "SNOMEDCT_US_2021_03_01:154480006"^^xsd:string, "UMLS_CUI:C0595989"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of Larynx"@en, "cancer of larynx"@en, "carcinoma of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2600"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2596, obo:DOID_305, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_2601 oboInOwl:hasDbXref "NCI:C4302"^^xsd:string, "SNOMEDCT_US_2021_03_01:9266000"^^xsd:string, "UMLS_CUI:C0334548"^^xsd:string ; oboInOwl:hasExactSynonym "Juxtacortical chondroma"@en, "Periosteal Chondroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2601"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "juxtacortical chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2602 . obo:DOID_2602 obo:IAO_0000115 "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern."^^xsd:string ; oboInOwl:hasDbXref "GARD:6052"^^xsd:string, "MESH:D002812"^^xsd:string, "NCI:C53459"^^xsd:string, "SNOMEDCT_US_2021_03_01:269638002"^^xsd:string, "UMLS_CUI:C0936248"^^xsd:string ; oboInOwl:hasExactSynonym "central Chondroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000138 ] ) ] . obo:DOID_2609 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018194"^^xsd:string, "NCI:C3726"^^xsd:string, "SNOMEDCT_US_2021_03_01:40293003"^^xsd:string, "UMLS_CUI:C0206622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2609"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000187 ] ) ] ) ] ; skos:exactMatch "MESH:D018194"^^xsd:string . obo:DOID_261 oboInOwl:hasDbXref "ICD10CM:C18.4"^^xsd:string, "ICD9CM:153.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:94105000"^^xsd:string, "UMLS_CUI:C0153434"^^xsd:string ; oboInOwl:hasExactSynonym "Ca transverse colon"@en, "malignant tumor of transverse colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:261"^^xsd:string ; a owl:Class ; rdfs:label "transverse colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001157 ] ) ] . obo:DOID_2614 oboInOwl:hasDbXref "NCI:C4181"^^xsd:string, "SNOMEDCT_US_2021_03_01:67073007"^^xsd:string, "UMLS_CUI:C0334360"^^xsd:string ; oboInOwl:hasExactSynonym "serous Surface papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2614"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "serous surface papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615 . obo:DOID_2615 obo:IAO_0000115 "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1635"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010212"^^xsd:string, "NCI:C3713"^^xsd:string, "NCI:C7440"^^xsd:string, "SNOMEDCT_US_2021_03_01:711329002"^^xsd:string, "SNOMEDCT_US_2021_03_01:82049002"^^xsd:string, "UMLS_CUI:C0030354"^^xsd:string, "UMLS_CUI:C0205875"^^xsd:string ; oboInOwl:hasExactSynonym "papillomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] ) ] ) ] . obo:DOID_2616 obo:IAO_0000115 "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4294"^^xsd:string, "SNOMEDCT_US_2021_03_01:72889001"^^xsd:string, "UMLS_CUI:C0334530"^^xsd:string ; oboInOwl:hasExactSynonym "Mesonephric adenoma"@en, "Mesonephroma, benign"@en, "benign mesonephroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Wolffian duct adenoma"@en ; oboInOwl:id "DOID:2616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Wolffian duct adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_262 obo:IAO_0000115 "A kidney cancer which is manifested in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4527"^^xsd:string, "SNOMEDCT_US_2021_03_01:254923001"^^xsd:string, "UMLS_CUI:C0346256"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiopericytoma of kidney"@en, "renal hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263 . obo:DOID_2620 oboInOwl:hasExactSynonym "ductal, lobular and medullary neoplasm (morphologic abnormality)"@en, "ductal, lobular and medullary tumor (qualifier value)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2620"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ductal, lobular, and medullary neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2621 obo:IAO_0000115 "A peripheral nervous system neoplasm that is located_in the autonomic nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5112"^^xsd:string, "UMLS_CUI:C1332356"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Autonomic nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2621"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autonomic nervous system neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1192 . obo:DOID_2622 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2622"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuroblastic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_2623 oboInOwl:hasExactSynonym "neuronal and Glio-neuronal tumor"@en, "neuronal and mixed neuronal-glial tumor (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2623"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuronal and glio-neuronal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2626 oboInOwl:hasAlternativeId "DOID:3661"^^xsd:string ; oboInOwl:hasDbXref "GARD:4214"^^xsd:string, "ICDO:9390/3"^^xsd:string, "MESH:D020288"^^xsd:string, "NCI:C3698"^^xsd:string, "NCI:C5800"^^xsd:string, "OMIM:260500"^^xsd:string, "SNOMEDCT_US_2021_03_01:18021007"^^xsd:string, "UMLS_CUI:C0205770"^^xsd:string, "UMLS_CUI:C1332963"^^xsd:string ; oboInOwl:hasExactSynonym "childhood choroid plexus papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "choroid plexus papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_60007, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_2629 oboInOwl:hasExactSynonym "Papillary serous cystadenoma (morphologic abnormality)"@en, "Papillary serous cystadenoma NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2629"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillary serous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_263 obo:IAO_0000115 "A urinary system cancer that is located_in the kidney."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11834"^^xsd:string, "DOID:3676"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C64"^^xsd:string, "ICD9CM:189.0"^^xsd:string, "MESH:D007680"^^xsd:string, "NCI:C120456"^^xsd:string, "NCI:C3150"^^xsd:string, "NCI:C7548"^^xsd:string, "SNOMEDCT_US_2021_03_01:126880001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93849006"^^xsd:string, "UMLS_CUI:C0022665"^^xsd:string, "UMLS_CUI:C0494158"^^xsd:string, "UMLS_CUI:C0740457"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of kidney except pelvis"@en, "malignant tumour of kidney"@en, "renal cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:263"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "kidney cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3996, obo:DOID_557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_2630 oboInOwl:hasExactSynonym "Papillary Cystadenoma"@en, "Papillary cystadenoma (morphologic abnormality)"@en, "Papillary cystadenoma NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2630"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillary cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_2631 oboInOwl:hasExactSynonym "serous Cystoma"@en, "serous cystadenoma NOS (morphologic abnormality)"@en, "serous microcystic adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2631"^^xsd:string ; a owl:Class ; rdfs:label "obsolete serous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_2632 obo:IAO_0000115 "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5589"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4182"^^xsd:string, "SNOMEDCT_US_2020_03_01:716649003"^^xsd:string ; oboInOwl:hasExactSynonym "Micropapillary serous carcinoma"@en, "Papillary serous carcinoma"@en, "serous surface papillary carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3112 . obo:DOID_2633 oboInOwl:hasExactSynonym "mucinous adenoma"@en, "mucinous adenoma (morphologic abnormality)"@en, "mucinous cystadenoma"@en, "mucinous cystadenoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2633"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mucinous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_2634 obo:IAO_0000115 "An adenoma that forms a cyst."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003537"^^xsd:string, "NCI:C2972"^^xsd:string, "SNOMEDCT_US_2021_03_01:189680006"^^xsd:string, "UMLS_CUI:C0010633"^^xsd:string ; oboInOwl:hasExactSynonym "Cystadenoma"@en, "Cystoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_2635 oboInOwl:hasExactSynonym "mucinous tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2635"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mucinous neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2636 obo:IAO_0000115 "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary."^^xsd:string ; oboInOwl:hasDbXref "GARD:9397"^^xsd:string, "MESH:D001948"^^xsd:string, "NCI:C39954"^^xsd:string, "UMLS_CUI:C0006160"^^xsd:string ; oboInOwl:hasExactSynonym "benign ovarian Brenner tumor"@en, "benign ovarian Brenner tumour"@en, "ovarian Brenner tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian Brenner tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_2639 obo:IAO_0000115 "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4272"^^xsd:string, "SNOMEDCT_US_2021_03_01:41382006"^^xsd:string, "UMLS_CUI:C0334497"^^xsd:string ; oboInOwl:hasExactSynonym "Pericanalicular Fibroadenoma of breast"@en, "Pericanalicular fibroadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast pericanalicular fibroadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1618 . obo:DOID_264 obo:IAO_0000115 "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5372"^^xsd:string ; oboInOwl:hasDbXref "GARD:2627"^^xsd:string, "ICDO:9150/3"^^xsd:string, "MESH:D006393"^^xsd:string, "NCI:C3087"^^xsd:string, "SNOMEDCT_US_2021_03_01:134335004"^^xsd:string, "UMLS_CUI:C0018922"^^xsd:string ; oboInOwl:hasExactSynonym "Haemangiopericytic meningioma"@en, "hemangiopericytoma, malignant"@en, "malignant hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:264"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3850 . obo:DOID_2640 obo:IAO_0000115 "An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013330"^^xsd:string, "NCI:C7468"^^xsd:string, "SNOMEDCT_US_2021_03_01:24327009"^^xsd:string, "UMLS_CUI:C0038478"^^xsd:string ; oboInOwl:hasExactSynonym "Struma ovarii"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2640"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "struma ovarii"^^xsd:string ; rdfs:subClassOf obo:DOID_2641 . obo:DOID_2641 obo:IAO_0000115 "A monodermal teratoma that has_material_basis in germ cells that are highly specialized and is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8113"^^xsd:string, "UMLS_CUI:C0280134"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian Monodermal and Highly Specialized teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian germ cell monodermal and highly specialized teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5207 . obo:DOID_2642 oboInOwl:hasExactSynonym "Lymphangioleiomyoma"@en, "Lymphangiomyoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2642"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphangiomyoma"^^xsd:string ; owl:deprecated true . obo:DOID_2643 oboInOwl:hasDbXref "MESH:D054973"^^xsd:string, "NCI:C38150"^^xsd:string, "SNOMEDCT_US_2021_03_01:388601000"^^xsd:string, "UMLS_CUI:C1300127"^^xsd:string ; oboInOwl:hasExactSynonym "PEComa"@en, "neoplasm with Perivascular epithelioid cell differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perivascular epithelioid cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3316 . obo:DOID_2645 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in mesothelium."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2644"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C45"^^xsd:string, "MESH:D008654"^^xsd:string, "NCI:C3234"^^xsd:string, "SNOMEDCT_US_2021_03_01:154491004"^^xsd:string, "UMLS_CUI:C0025500"^^xsd:string ; oboInOwl:hasExactSynonym "benign tumor of Mesothelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2645"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3314 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2645 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ] ) ] ) ] . obo:DOID_2647 oboInOwl:hasDbXref "NCI:C6581"^^xsd:string, "SNOMEDCT_US_2021_03_01:404086000"^^xsd:string, "UMLS_CUI:C1266175"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2647"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parachordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_2648 oboInOwl:hasAlternativeId "DOID:7387"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4174"^^xsd:string, "SNOMEDCT_US_2021_03_01:78424008"^^xsd:string, "UMLS_CUI:C1368816"^^xsd:string ; oboInOwl:hasExactSynonym "Sebaceous adenoma"@en, "adenoma of the Sebaceous gland"@en, "skin appendage sebaceous adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2648"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sebaceous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5759 . obo:DOID_2649 obo:IAO_0000115 "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints."^^xsd:string ; oboInOwl:hasDbXref "GARD:6047"^^xsd:string, "MESH:D002804"^^xsd:string, "NCI:C2945"^^xsd:string, "SNOMEDCT_US_2021_03_01:9001003"^^xsd:string, "UMLS_CUI:C0008441"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroblastoma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2649"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060123 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] ) ] . obo:DOID_265 obo:IAO_0000115 "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4564"^^xsd:string, "SNOMEDCT_US_2021_03_01:187821001"^^xsd:string, "UMLS_CUI:C0346424"^^xsd:string ; oboInOwl:hasExactSynonym "Splenic hemangiosarcoma"@en, "angiosarcoma of spleen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:265"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spleen angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_672, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] . obo:DOID_2651 oboInOwl:hasExactSynonym "Intraductal papillomatosis"@en, "Intraductal papillomatosis (morphologic abnormality)"@en, "Intraductal papillomatosis NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2651"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intraductal papillomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_2653 oboInOwl:hasDbXref "MESH:D054363"^^xsd:string, "NCI:C4457"^^xsd:string, "SNOMEDCT_US_2021_03_01:15702005"^^xsd:string, "UMLS_CUI:C0334511"^^xsd:string ; oboInOwl:hasExactSynonym "fibrous mesothelioma, benign"@en, "localized benign fibrous Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2653"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign fibrous mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2645 . obo:DOID_2654 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2654"^^xsd:string ; a owl:Class ; rdfs:label "obsolete serous neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2656 obo:IAO_0000115 "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4271"^^xsd:string, "SNOMEDCT_US_2021_03_01:72905006"^^xsd:string, "UMLS_CUI:C0334496"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast intracanalicular fibroadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1618 . obo:DOID_2658 obo:IAO_0000115 "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K09.8"^^xsd:string, "MESH:D003884"^^xsd:string, "NCI:C9011"^^xsd:string, "SNOMEDCT_US_2021_03_01:189117002"^^xsd:string, "UMLS_CUI:C0011649"^^xsd:string ; oboInOwl:hasExactSynonym "Dermoid choristoma"@en, "Dermoid tumour"@en, "Mature cystic teratoma"@en, "cystic dermoid choristoma"@en, "teratoma, benign"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2658"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermoid cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_2660 . obo:DOID_266 oboInOwl:hasExactSynonym "malignant soft tissue tumor of Spleen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:266"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant soft tissue neoplasm of the spleen"^^xsd:string ; owl:deprecated true . obo:DOID_2660 obo:IAO_0000115 "A benign teratoma that is characterized by the presence of cysts or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9014"^^xsd:string, "SNOMEDCT_US_2021_03_01:42717009"^^xsd:string, "UMLS_CUI:C1368903"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystic teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080602 . obo:DOID_2661 obo:IAO_0000115 "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009208"^^xsd:string, "NCI:C40392"^^xsd:string, "SNOMEDCT_US_2021_03_01:69291002"^^xsd:string, "UMLS_CUI:C0027070"^^xsd:string ; oboInOwl:hasExactSynonym "Myoepithelial adenoma"@en, "Myoepithelial neoplasm"@en, "benign myoepithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2661"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myoepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2664 . obo:DOID_2664 oboInOwl:hasDbXref "MESH:D013544"^^xsd:string, "NCI:C3398"^^xsd:string, "SNOMEDCT_US_2021_03_01:126490003"^^xsd:string, "UMLS_CUI:C0038987"^^xsd:string ; oboInOwl:hasExactSynonym "Sweat gland tumor"@en, "neoplasm of sweat gland"@en, "tumor of the Sweat gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2664"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sweat gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1383, obo:DOID_3165 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001820 ] ) ] . obo:DOID_2667 oboInOwl:hasDbXref "NCI:C4267"^^xsd:string ; oboInOwl:hasExactSynonym "Mesenchymoma, benign"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2667"^^xsd:string ; a owl:Class ; rdfs:comment "Obsolete concept in NCI, LS."^^xsd:string ; rdfs:label "obsolete benign mesenchymoma"^^xsd:string ; owl:deprecated true . obo:DOID_2668 oboInOwl:hasDbXref "ICDO:8990/3"^^xsd:string, "MESH:D008637"^^xsd:string, "NCI:C3233"^^xsd:string, "SNOMEDCT_US_2021_03_01:44524009"^^xsd:string, "UMLS_CUI:C0025464"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2668"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesenchymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_2669 oboInOwl:hasDbXref "NCI:C4328"^^xsd:string, "SNOMEDCT_US_2021_03_01:4230004"^^xsd:string, "UMLS_CUI:C0334599"^^xsd:string ; oboInOwl:hasExactSynonym "Pacinian Neurofibroma"@en, "Pacinian neurofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2669"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pacinian tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_2670 oboInOwl:hasDbXref "NCI:C4115"^^xsd:string, "SNOMEDCT_US_2021_03_01:44342003"^^xsd:string, "UMLS_CUI:C0334266"^^xsd:string ; oboInOwl:hasExactSynonym "transitional cell papilloma"@en, "transitional cell papilloma, benign"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2670"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transitional papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615 . obo:DOID_2671 obo:IAO_0000115 "A carcinoma that derives_from transitional epithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3995"^^xsd:string ; oboInOwl:hasDbXref "GARD:7794"^^xsd:string, "MESH:D002295"^^xsd:string, "NCI:C2930"^^xsd:string, "NCI:C6783"^^xsd:string, "SNOMEDCT_US_2021_03_01:118287003"^^xsd:string, "SNOMEDCT_US_2021_03_01:27090000"^^xsd:string, "UMLS_CUI:C0007138"^^xsd:string, "UMLS_CUI:C0334265"^^xsd:string ; oboInOwl:hasExactSynonym "transitional carcinoma"@en, "transitional cell tumor"@en, "urothelial cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "transitional cell neoplasm"@en ; oboInOwl:id "DOID:2671"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ] ) ] . obo:DOID_2673 obo:IAO_0000115 "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7504"^^xsd:string ; oboInOwl:hasExactSynonym "multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2673"^^xsd:string ; a owl:Class ; rdfs:label "adult cystic nephroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080615, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_2676 oboInOwl:hasExactSynonym "Papillary mucinous cystadenoma (morphologic abnormality)"@en, "Papillary mucinous cystadenoma NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2676"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillary pseudomucinous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_2678 obo:IAO_0000115 "A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsolete adult mesoblastic nephroma"^^xsd:string ; owl:deprecated true . obo:DOID_2679 oboInOwl:hasDbXref "GARD:10640"^^xsd:string, "NCI:C9505"^^xsd:string, "SNOMEDCT_US_2021_03_01:87211000119104"^^xsd:string, "UMLS_CUI:C1266177"^^xsd:string ; oboInOwl:hasExactSynonym "Dysembryoplastic Neuroepithelial neoplasm"@en, "Dysembryoplastic neuroepithelial tumor"@en, "Dysembryoplastic neuroepithelial tumour"@en, "dysembryoplastic neuroepithelial tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysembryoplastic neuroepithelial tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_268 obo:IAO_0000115 "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "GARD:5813"^^xsd:string, "ICD10CM:C22.3"^^xsd:string, "NCI:C4438"^^xsd:string, "SNOMEDCT_US_2021_03_01:187770005"^^xsd:string, "UMLS_CUI:C0345907"^^xsd:string ; oboInOwl:hasExactSynonym "angiosarcoma of liver"@en, "hemangiosarcoma of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:268"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_272, obo:DOID_3571, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_2680 oboInOwl:hasExactSynonym "pediatric neoplasm of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric central nervous system tumor"^^xsd:string ; owl:deprecated true . obo:DOID_2681 oboInOwl:hasExactSynonym "Mole NOS"@en, "Mole of skin"@en, "nevus"@en, "nevus (disorder)"@en, "nevus, NOS"@en, "skin mole, NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2681"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2682 oboInOwl:hasDbXref "NCI:C4191"^^xsd:string, "SNOMEDCT_US_2021_03_01:47488001"^^xsd:string, "UMLS_CUI:C0334374"^^xsd:string ; oboInOwl:hasExactSynonym "Intracystic papillary adenoma"@en, "Intracystic papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2682"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracystic papillary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_2683 obo:IAO_0000115 "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000232"^^xsd:string, "SNOMEDCT_US_2021_03_01:189823009"^^xsd:string, "UMLS_CUI:C0001422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2683"^^xsd:string ; a owl:Class ; rdfs:label "adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000499 ] ) ] ) ] ; skos:exactMatch "MESH:D000232"^^xsd:string . obo:DOID_2685 oboInOwl:hasDbXref "NCI:C6582"^^xsd:string, "SNOMEDCT_US_2021_03_01:404076001"^^xsd:string, "UMLS_CUI:C1266128"^^xsd:string ; oboInOwl:hasExactSynonym "Ossifying Fibromyxoma"@en, "Ossifying fibromyxoid tumor"@en, "Ossifying fibromyxoid tumour"@en, "ossifying fibromyxoid tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ossifying fibromyxoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_2687 obo:IAO_0000115 "A sarcoma that is located_in the skin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5585"^^xsd:string, "UMLS_CUI:C0856900"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2687"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_4159, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_2689 obo:IAO_0000115 "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2686"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537491"^^xsd:string, "MESH:D008204"^^xsd:string, "NCI:C3205"^^xsd:string, "NCI:C4490"^^xsd:string, "SNOMEDCT_US_2021_03_01:403986008"^^xsd:string, "SNOMEDCT_US_2021_03_01:62497000"^^xsd:string, "UMLS_CUI:C0024224"^^xsd:string, "UMLS_CUI:C0346082"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphangiosarcoma of Stewart and Treves"@en, "Stewart-Treves syndrome"@en, "malignant Lymphangioendothelioma"@en, "skin lymphangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2689"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphangiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073 . obo:DOID_2691 obo:IAO_0000115 "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D21"^^xsd:string, "MESH:D009214"^^xsd:string, "NCI:C4882"^^xsd:string, "SNOMEDCT_US_2021_03_01:66357004"^^xsd:string, "UMLS_CUI:C0027086"^^xsd:string ; oboInOwl:hasExactSynonym "benign neoplasm of the Muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_461, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] . obo:DOID_2696 obo:IAO_0000115 "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050616"^^xsd:string ; oboInOwl:hasDbXref "MESH:D007984"^^xsd:string, "NCI:C3188"^^xsd:string, "NCI:C4213"^^xsd:string, "SNOMEDCT_US_2021_03_01:45002009"^^xsd:string, "SNOMEDCT_US_2021_03_01:77870005"^^xsd:string, "UMLS_CUI:C0023601"^^xsd:string, "UMLS_CUI:C0334410"^^xsd:string ; oboInOwl:hasExactSynonym "Leydig cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2696"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Leydig cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_192 . obo:DOID_2697 oboInOwl:hasDbXref "NCI:C8383"^^xsd:string, "SNOMEDCT_US_2021_03_01:41627005"^^xsd:string, "UMLS_CUI:C0334684"^^xsd:string ; oboInOwl:hasExactSynonym "renal cell adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2697"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_2698 oboInOwl:hasDbXref "NCI:C39812"^^xsd:string, "SNOMEDCT_US_2021_03_01:128760004"^^xsd:string, "UMLS_CUI:C1266141"^^xsd:string ; oboInOwl:hasExactSynonym "Metanephric adenofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrogenic adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116 . obo:DOID_2699 oboInOwl:hasExactSynonym "Schneiderian papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2699"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sinonasal papilloma"^^xsd:string ; owl:deprecated true . obo:DOID_270 obo:IAO_0000115 "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4437"^^xsd:string, "SNOMEDCT_US_2021_03_01:254601002"^^xsd:string, "UMLS_CUI:C0345906"^^xsd:string ; oboInOwl:hasExactSynonym "hepatic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:270"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3571 . obo:DOID_2700 obo:IAO_0000115 "An adenofibroma that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8978"^^xsd:string, "SNOMEDCT_US_2021_03_01:10705005"^^xsd:string, "UMLS_CUI:C0334499"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2683 . obo:DOID_2701 oboInOwl:hasAlternativeId "DOID:2665"^^xsd:string ; oboInOwl:hasDbXref "MESH:D000070779"^^xsd:string, "NCI:C3829"^^xsd:string, "NCI:C6532"^^xsd:string, "SNOMEDCT_US_2021_03_01:5178002"^^xsd:string, "SNOMEDCT_US_2021_03_01:71508003"^^xsd:string, "UMLS_CUI:C0221289"^^xsd:string, "UMLS_CUI:C0588125"^^xsd:string ; oboInOwl:hasExactSynonym "Synovioma, benign"@en, "benign synovioma"@en, "benign tumor of Synovium"@en, "localized Giant cell tumor of Tenosynovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2701"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular tenosynovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_2702 oboInOwl:hasDbXref "GARD:7396"^^xsd:string, "ICD10CM:M12.2"^^xsd:string, "MESH:D013586"^^xsd:string, "NCI:C3401"^^xsd:string, "SNOMEDCT_US_2021_03_01:202903009"^^xsd:string, "UMLS_CUI:C0039106"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse Giant cell tumor of Tenosynovium"@en, "villous tenosynovitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2702"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pigmented villonodular synovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2703 . obo:DOID_2703 obo:IAO_0000115 "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling."^^xsd:string ; oboInOwl:hasDbXref "GARD:7722"^^xsd:string, "MESH:D013585"^^xsd:string, "NCI:C50766"^^xsd:string, "SNOMEDCT_US_2021_03_01:268092005"^^xsd:string, "UMLS_CUI:C0039103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2703"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_2704 oboInOwl:hasDbXref "NCI:C6535"^^xsd:string, "SNOMEDCT_US_2021_03_01:128778009"^^xsd:string, "UMLS_CUI:C1266168"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell tumour of tendon sheath, malignant"@en, "malignant Giant cell neoplasm of the Tendon Sheath"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2704"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant giant cell tumor of the tendon sheath"^^xsd:string ; rdfs:subClassOf obo:DOID_2706 . obo:DOID_2705 oboInOwl:hasDbXref "NCI:C4090"^^xsd:string, "SNOMEDCT_US_2021_03_01:83950009"^^xsd:string, "UMLS_CUI:C0334229"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Giant cell neoplasm"@en, "malignant tumor, giant cell type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant giant cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_2706 oboInOwl:hasDbXref "NCI:C6531"^^xsd:string, "UMLS_CUI:C1334624"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of Synovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2706"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synovium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_201 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007616 ] ) ] . obo:DOID_2708 obo:IAO_0000115 "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.5"^^xsd:string, "ICD9CM:495.5"^^xsd:string, "MESH:D005203"^^xsd:string, "SNOMEDCT_US_2021_03_01:52333004"^^xsd:string, "UMLS_CUI:C0155889"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2708"^^xsd:string ; a owl:Class ; rdfs:label "mushroom workers' lung"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_271 oboInOwl:hasDbXref "NCI:C3869"^^xsd:string, "SNOMEDCT_US_2021_03_01:93469006"^^xsd:string, "UMLS_CUI:C0238246"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of Liver"@en, "hepatic angioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of liver"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_272, obo:DOID_916, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_2710 obo:IAO_0000115 "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018877"^^xsd:string, "SNOMEDCT_US_2021_03_01:19076009"^^xsd:string, "UMLS_CUI:C0037050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2710"^^xsd:string ; a owl:Class ; rdfs:label "sick building syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_841 . obo:DOID_2712 oboInOwl:hasDbXref "ICD10CM:N47.1"^^xsd:string, "MESH:D010688"^^xsd:string, "NCI:C26852"^^xsd:string, "SNOMEDCT_US_2021_03_01:449826002"^^xsd:string, "UMLS_CUI:C0031538"^^xsd:string ; oboInOwl:hasExactSynonym "Tight foreskin"@en, "Tight frenulum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2712"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "phimosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1529 . obo:DOID_2717 obo:IAO_0000115 "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001816"^^xsd:string, "NCI:C2903"^^xsd:string, "OMIM:210900"^^xsd:string, "ORDO:125"^^xsd:string, "SNOMEDCT_US_2021_03_01:4434006"^^xsd:string, "UMLS_CUI:C0005859"^^xsd:string ; oboInOwl:hasExactSynonym "Bloom-Torre-Machacek syndrome"@en, "Congenital Telangiectatic Erythema syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2717"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bloom syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2718 obo:IAO_0000115 "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J94.2"^^xsd:string, "MESH:D006468"^^xsd:string, "SNOMEDCT_US_2021_03_01:16632002"^^xsd:string, "UMLS_CUI:C0019077"^^xsd:string ; oboInOwl:hasExactSynonym "haemopneumothorax"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2718"^^xsd:string ; a owl:Class ; rdfs:label "hemopneumothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_1673 . obo:DOID_272 obo:IAO_0000115 "A vascular disease that is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35442"^^xsd:string, "SNOMEDCT_US_2021_03_01:235878005"^^xsd:string, "UMLS_CUI:C0400923"^^xsd:string ; oboInOwl:hasExactSynonym "vascular disorder of liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatic vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178, obo:DOID_409 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_2722 obo:IAO_0000115 "A dermatitis that selectively affects the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:5722"^^xsd:string, "MESH:D000169"^^xsd:string, "NCI:C84532"^^xsd:string, "SNOMEDCT_US_2021_03_01:8197001"^^xsd:string, "UMLS_CUI:C0001197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2722"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acrodermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 ; skos:exactMatch "MESH:D000169"^^xsd:string . obo:DOID_2723 obo:IAO_0000115 "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8614"^^xsd:string, "DOID:8917"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L30.9"^^xsd:string, "MESH:D003872"^^xsd:string, "NCI:C2983"^^xsd:string, "SNOMEDCT_US_2021_03_01:238538009"^^xsd:string, "UMLS_CUI:C0011603"^^xsd:string ; oboInOwl:hasExactSynonym "eczema"@en, "skin inflammation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2723"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_2724 oboInOwl:hasExactSynonym "Cavernous naevus"@en, "Naevus flammeus"@en, "Port Wine type hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2724"^^xsd:string ; a owl:Class ; rdfs:label "obsolete port-wine stain"^^xsd:string ; owl:deprecated true . obo:DOID_2725 oboInOwl:hasDbXref "ICD10CM:Q82.5"^^xsd:string, "MESH:D018324"^^xsd:string, "NCI:C7457"^^xsd:string, "SNOMEDCT_US_2021_03_01:56975005"^^xsd:string, "UMLS_CUI:C0206733"^^xsd:string ; oboInOwl:hasExactSynonym "Capillary hemangioma"@en, "Congenital vascular hamartoma"@en, "Congenital vascular naevus"@en, "Infantile hemangioma"@en, "Juvenile hemangioma"@en, "Strawberry haemangioma"@en, "Strawberry nevus"@en, "Strawberry nevus of skin"@en, "cellular hemangioma of Infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2725"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "capillary hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1271, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001982 ] . obo:DOID_2726 oboInOwl:hasExactSynonym "Pilosebaceous Nevoid disorder"@en, "nevus comedonicus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2726"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acne nevus"^^xsd:string ; owl:deprecated true . obo:DOID_2728 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2728"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pilosebaceous hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_2729 obo:IAO_0000115 "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer."^^xsd:string ; oboInOwl:hasDbXref "GARD:10905"^^xsd:string, "MESH:D019871"^^xsd:string, "NCI:C111802"^^xsd:string, "OMIM:PS127550"^^xsd:string, "ORDO:1775"^^xsd:string, "SNOMEDCT_US_2021_03_01:74911008"^^xsd:string, "UMLS_CUI:C0265965"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2729"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "dyskeratosis congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_2730 obo:IAO_0000115 "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin."^^xsd:string ; oboInOwl:hasDbXref "GARD:6359"^^xsd:string, "ICD10CM:Q81"^^xsd:string, "MESH:D004820"^^xsd:string, "NCI:C67383"^^xsd:string, "SNOMEDCT_US_2021_03_01:205580008"^^xsd:string, "UMLS_CUI:C0014527"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermolysis bullosa"@en, "acantholysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2730"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermolysis bullosa"^^xsd:string ; rdfs:subClassOf obo:DOID_2731 . obo:DOID_2731 obo:IAO_0000115 "A bullous skin disease that is characterized by fluid filled blisters."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012872"^^xsd:string, "UMLS_CUI:C0037275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2731"^^xsd:string ; a owl:Class ; rdfs:label "vesiculobullous skin disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8502 . obo:DOID_2732 oboInOwl:hasDbXref "GARD:4392"^^xsd:string, "ICD10CM:Q82.8"^^xsd:string, "MESH:D011038"^^xsd:string, "NCI:C3335"^^xsd:string, "OMIM:268400"^^xsd:string, "SNOMEDCT_US_2021_03_01:205572001"^^xsd:string, "UMLS_CUI:C0032339"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital poikiloderma"@en, "RTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2732"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Rothmund-Thomson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; skos:exactMatch "MESH:D011038"^^xsd:string . obo:DOID_2733 oboInOwl:hasDbXref "ICD10CM:L90"^^xsd:string, "NCI:C35163"^^xsd:string, "SNOMEDCT_US_2021_03_01:16343004"^^xsd:string, "UMLS_CUI:C0151514"^^xsd:string ; oboInOwl:hasExactSynonym "Atrophoderma"@en, "Atrophy - skin"@en, "atrophic condition of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_2734 oboInOwl:hasDbXref "ICD10CM:E50.8"^^xsd:string, "MESH:D007644"^^xsd:string, "NCI:C84665"^^xsd:string, "OMIM:124200"^^xsd:string, "SNOMEDCT_US_2021_03_01:157017000"^^xsd:string, "UMLS_CUI:C0022595"^^xsd:string ; oboInOwl:hasExactSynonym "DARIER-WHITE DISEASE"@en, "Darier's disease"@en, "Keratosis follicularis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2734"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "keratosis follicularis"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_2736 obo:IAO_0000115 "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2735"^^xsd:string ; oboInOwl:hasDbXref "GARD:508"^^xsd:string, "MESH:D030981"^^xsd:string, "MESH:D031845"^^xsd:string, "NCI:C35545"^^xsd:string, "NCI:C84745"^^xsd:string, "OMIM:102500"^^xsd:string, "SNOMEDCT_US_2021_03_01:63122002"^^xsd:string, "UMLS_CUI:C0917715"^^xsd:string, "UMLS_CUI:C0917990"^^xsd:string ; oboInOwl:hasExactSynonym "Cheney syndrome"@en, "HJCYS"@en, "SFPKS"@en, "acroosteolysis with osteoporosis and changes in skull and mandible"@en, "arthrodentoosteodysplasia"@en, "serpentine fibula-polycystic kidney syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2736"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hajdu-Cheney syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080001, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_2737 oboInOwl:hasExactSynonym "Hereditary benign intraepithelial dyskeratosis"@en, "Hereditary benign intraepithelial dyskeratosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2737"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Witkop-Von Sallmann disease"^^xsd:string ; owl:deprecated true . obo:DOID_2738 obo:IAO_0000115 "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system."^^xsd:string ; oboInOwl:hasDbXref "GARD:9643"^^xsd:string, "MESH:D011561"^^xsd:string, "NCI:C85036"^^xsd:string, "OMIM:177850"^^xsd:string, "OMIM:264800"^^xsd:string, "ORDO:758"^^xsd:string, "SNOMEDCT_US_2021_03_01:7109007"^^xsd:string, "UMLS_CUI:C0033847"^^xsd:string ; oboInOwl:hasExactSynonym "Gronblad-Strandberg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2738"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "pseudoxanthoma elasticum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2739 obo:IAO_0000115 "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity."^^xsd:string ; oboInOwl:hasDbXref "GARD:6507"^^xsd:string, "ICD10CM:E80.4"^^xsd:string, "MESH:D005878"^^xsd:string, "NCI:C84729"^^xsd:string, "OMIM:143500"^^xsd:string, "SNOMEDCT_US_2021_03_01:27503000"^^xsd:string, "UMLS_CUI:C0017551"^^xsd:string ; oboInOwl:hasExactSynonym "Constitutional hyperbilirubinemia"@en, "Gilbert's disease"@en, "Gilbert's syndrome"@en, "Gilbert-Meulengracht syndrome"@en, "hereditary nonhemolytic jaundice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2739"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gilbert syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2741 . obo:DOID_2741 obo:IAO_0000115 "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2740"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006932"^^xsd:string, "MESH:D006933"^^xsd:string, "NCI:C84761"^^xsd:string, "SNOMEDCT_US_2021_03_01:154770008"^^xsd:string, "UMLS_CUI:C0020433"^^xsd:string, "UMLS_CUI:C0020435"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary hyperbilirubinemia"@en, "hyperbilirubinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hyperbilirubinaemia"@en ; oboInOwl:id "DOID:2741"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bilirubin metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_2742 obo:IAO_0000115 "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1490"^^xsd:string, "DOID:2011"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H93.9"^^xsd:string, "ICD9CM:388.9"^^xsd:string, "MESH:D004427"^^xsd:string, "NCI:C26757"^^xsd:string, "SNOMEDCT_US_2021_03_01:194193002"^^xsd:string, "UMLS_CUI:C0013447"^^xsd:string ; oboInOwl:hasExactSynonym "ear and mastoid disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2742"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "auditory system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016490 ] ) ] . obo:DOID_2743 oboInOwl:hasDbXref "ICD10CM:N28.85"^^xsd:string, "ICD9CM:590.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:197776002"^^xsd:string, "UMLS_CUI:C0156254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2743"^^xsd:string ; a owl:Class ; rdfs:label "pyeloureteritis cystica"^^xsd:string ; rdfs:subClassOf obo:DOID_2744 . obo:DOID_2744 oboInOwl:hasDbXref "ICD10CM:N12"^^xsd:string, "MESH:D011702"^^xsd:string, "NCI:C34964"^^xsd:string, "SNOMEDCT_US_2021_03_01:27174002"^^xsd:string, "UMLS_CUI:C0034183"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2744"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_2745 obo:IAO_0000115 "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.81"^^xsd:string, "ICD9CM:301.81"^^xsd:string, "MESH:D010554"^^xsd:string, "NCI:C92635"^^xsd:string, "SNOMEDCT_US_2021_03_01:80711002"^^xsd:string, "UMLS_CUI:C0027402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2745"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "narcissistic personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_2746 oboInOwl:hasDbXref "GARD:6528"^^xsd:string, "ICD10CM:E74.04"^^xsd:string, "MESH:D006012"^^xsd:string, "NCI:C84738"^^xsd:string, "OMIM:232600"^^xsd:string, "SNOMEDCT_US_2021_03_01:55912009"^^xsd:string, "UMLS_CUI:C0017924"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease, type V"@en, "McArdle's disease"@en, "glycogen storage disease type V"@en, "myophosphorylase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2746"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease V"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2747 obo:IAO_0000115 "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "ICD9CM:271.0"^^xsd:string, "MESH:D006008"^^xsd:string, "NCI:C61272"^^xsd:string, "SNOMEDCT_US_2021_03_01:267498002"^^xsd:string, "UMLS_CUI:C0017919"^^xsd:string ; oboInOwl:hasExactSynonym "glycogenosis"@en ; oboInOwl:hasNarrowSynonym "glycogenoses"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2747"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glycogen storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050728 . obo:DOID_2748 oboInOwl:hasDbXref "ICD10CM:E74.03"^^xsd:string, "MESH:D006010"^^xsd:string, "NCI:C84736"^^xsd:string, "OMIM:232400"^^xsd:string, "SNOMEDCT_US_2021_03_01:66937008"^^xsd:string, "UMLS_CUI:C0017922"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease, type III"@en, "amylo 1,6 glucosidase deficiency"@en, "deficiency of debranching enzyme"@en, "deficiency of dextrin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2748"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease III"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2749 obo:IAO_0000115 "A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.01"^^xsd:string, "MESH:D005953"^^xsd:string, "NCI:C84733"^^xsd:string, "OMIM:232200"^^xsd:string, "OMIM:232220"^^xsd:string, "OMIM:232240"^^xsd:string, "SNOMEDCT_US_2021_03_01:7265005"^^xsd:string, "UMLS_CUI:C0017920"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease, type I"@en, "deficiency of glucose-6-phosphatase"@en, "glycogen storage disease type I"@en, "glycogenosis type I"@en, "von Gierke disease"@en, "von Gierke's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2749"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease I"^^xsd:string ; rdfs:subClassOf obo:DOID_2747, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000460 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] . obo:DOID_275 oboInOwl:hasDbXref "NCI:C5481"^^xsd:string, "UMLS_CUI:C1333770"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_255, obo:DOID_76, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_2750 oboInOwl:hasDbXref "GARD:2520"^^xsd:string, "ICD10CM:E74.09"^^xsd:string, "MESH:D006011"^^xsd:string, "NCI:C84737"^^xsd:string, "OMIM:232500"^^xsd:string, "SNOMEDCT_US_2021_03_01:11179002"^^xsd:string, "UMLS_CUI:C0017923"^^xsd:string ; oboInOwl:hasExactSynonym "Amylopectinosis"@en, "Branching-transferase deficiency glycogenosis"@en, "Glycogen storage disease, type IV"@en, "brancher deficiency glycogenosis"@en, "deficiency of 1,4-alpha-glucan branching enzyme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease IV"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2751 oboInOwl:hasDbXref "MESH:D006015"^^xsd:string, "SNOMEDCT_US_2021_03_01:41527003"^^xsd:string, "UMLS_CUI:C0017927"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease type VIII"@en, "glycogen storage disease type VIII"@en, "glycogenosis type VIII"@en, "hepatic glycogen phosphorylase kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2751"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease VIII"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2752 obo:IAO_0000115 "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome."^^xsd:string ; oboInOwl:hasDbXref "GARD:5714"^^xsd:string, "ICD10CM:E74.02"^^xsd:string, "MESH:D006009"^^xsd:string, "NCI:C84734"^^xsd:string, "OMIM:232300"^^xsd:string, "SNOMEDCT_US_2021_03_01:237967002"^^xsd:string, "UMLS_CUI:C0017921"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized glycogenosis"@en, "Glycogen storage disease, type II"@en, "Glycogenosis, type 2"@en, "Lysosomal alpha-1,4-glucosidase deficiency"@en, "Pompe's disease"@en, "acid maltase deficiency"@en, "deficiency of glucoamylase"@en, "deficiency of maltase"@en, "glycogen storage disease type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease II"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2753 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nervous system lysosomal storage disease"^^xsd:string ; owl:deprecated true . obo:DOID_2754 obo:IAO_0000115 "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.09"^^xsd:string, "MESH:D006013"^^xsd:string, "NCI:C126875"^^xsd:string, "OMIM:232700"^^xsd:string, "ORDO:369"^^xsd:string, "SNOMEDCT_US_2021_03_01:29291001"^^xsd:string, "UMLS_CUI:C0017925"^^xsd:string ; oboInOwl:hasExactSynonym "Hers' disease"@en, "glycogen storage disease type VI"@en, "hepatic glycogen phosphorylase deficiency"@en, "hepatophosphorylase deficiency glycogenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2754"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "glycogen storage disease VI"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_2755 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons."^^xsd:string ; oboInOwl:hasDbXref "GARD:7123"^^xsd:string, "MESH:D015270"^^xsd:string, "NCI:C36197"^^xsd:string, "SNOMEDCT_US_2021_03_01:14009004"^^xsd:string, "UMLS_CUI:C0026916"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Mycobacterium intracellulare"@en, "MAC disease"@en, "Mycobacterium Avium Infection"@en, "Mycobacterium avium Complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2755"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Mycobacterium avium complex disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37162 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_2 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] ; skos:exactMatch "MESH:D015270"^^xsd:string . obo:DOID_2756 oboInOwl:hasExactSynonym "Infection due to Mycobacterium paratuberculosis (disorder)"@en, "Johne's disease (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2756"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete paratuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_2757 oboInOwl:hasExactSynonym "Infection due to mycobacteria"@en, "Mycobacterial Infection"@en, "Mycobacterial disease"@en, "Mycobacterial disease NOS (disorder)"@en, "Mycobacterium infection, unspecified (disorder)"@en, "Unspecified disease due to mycobacteria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2757"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycobacterium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2762 obo:IAO_0000115 "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36082"^^xsd:string, "SNOMEDCT_US_2021_03_01:269568000"^^xsd:string, "UMLS_CUI:C0700110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2762"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_184, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_2763 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the ethmoid sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6065"^^xsd:string, "UMLS_CUI:C1333477"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the ethmoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1363, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002453 ] . obo:DOID_2764 oboInOwl:hasDbXref "NCI:C6238"^^xsd:string, "UMLS_CUI:C1333473"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the ethmoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of ethmoid sinus"@en ; oboInOwl:id "DOID:2764"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1363 . obo:DOID_2766 obo:IAO_0000115 "An ethmoid sinus cancer that derives from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6237"^^xsd:string, "UMLS_CUI:C1333472"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the ethmoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of ethmoid sinus"@en ; oboInOwl:id "DOID:2766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1363, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002453 ] . obo:DOID_2768 obo:IAO_0000115 "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F95.0"^^xsd:string, "ICD9CM:307.21"^^xsd:string, "MESH:D013981"^^xsd:string, "NCI:C116767"^^xsd:string, "SNOMEDCT_US_2021_03_01:192622000"^^xsd:string, "UMLS_CUI:C0040702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2768"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient tic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2769 . obo:DOID_2769 obo:IAO_0000115 "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F95"^^xsd:string, "ICD9CM:307.20"^^xsd:string, "MESH:D013981"^^xsd:string, "SNOMEDCT_US_2021_03_01:155005001"^^xsd:string, "UMLS_CUI:C0040188"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2769"^^xsd:string ; a owl:Class ; rdfs:label "tic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_277 oboInOwl:hasDbXref "MESH:D006391"^^xsd:string, "NCI:C4868"^^xsd:string, "SNOMEDCT_US_2021_03_01:699948001"^^xsd:string, "UMLS_CUI:C0677608"^^xsd:string ; oboInOwl:hasExactSynonym "Placental hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chorioangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_255, obo:DOID_780, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001987 ] . obo:DOID_2770 oboInOwl:hasDbXref "ICD10CM:L22"^^xsd:string, "ICD9CM:691.0"^^xsd:string, "MESH:D003963"^^xsd:string, "NCI:C111886"^^xsd:string, "UMLS_CUI:C0011974"^^xsd:string ; oboInOwl:hasExactSynonym "Diaper or napkin erythema"@en, "Diaper or napkin rash"@en, "Diaper rash (disorder)"@en, "Irritant contact dermatitis due to contact with urine and/or faeces"@en, "Jacquet's dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2770"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsolete diaper rash"^^xsd:string ; owl:deprecated true . obo:DOID_2771 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2771"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atopic dermatitis and related conditions"^^xsd:string ; owl:deprecated true . obo:DOID_2772 obo:IAO_0000115 "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L24.9"^^xsd:string, "MESH:D017453"^^xsd:string, "NCI:C27151"^^xsd:string, "SNOMEDCT_US_2021_03_01:110979008"^^xsd:string, "UMLS_CUI:C0162823"^^xsd:string ; oboInOwl:hasExactSynonym "Irritant Contact Dermatitis"@en, "Irritant contact dermatitis"@en, "primary irritant dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2772"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "irritant dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2773 . obo:DOID_2773 oboInOwl:hasDbXref "ICD10CM:L25.9"^^xsd:string, "MESH:D003877"^^xsd:string, "NCI:C26743"^^xsd:string, "SNOMEDCT_US_2021_03_01:156338009"^^xsd:string, "UMLS_CUI:C0011616"^^xsd:string ; oboInOwl:hasExactSynonym "Contact dermatitis"@en, "Contact dermatitis/eczema"@en, "Contact eczema"@en, "Dermatitis, venenata"@en, "dermatitis venenata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2773"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_2775 obo:IAO_0000115 "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562741"^^xsd:string, "MESH:D050398"^^xsd:string, "NCI:C7644"^^xsd:string, "OMIM:102660"^^xsd:string, "SNOMEDCT_US_2021_03_01:56763007"^^xsd:string, "UMLS_CUI:C0334556"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2775"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "long bone adamantinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2776 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2776 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002495 ] ) ] . obo:DOID_2776 obo:IAO_0000115 "A bone cancer that is located_in almost exclusively in the long bones."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562741"^^xsd:string, "MESH:D050398"^^xsd:string, "NCI:C7644"^^xsd:string, "ORDO:55881"^^xsd:string, "SNOMEDCT_US_2021_03_01:56763007"^^xsd:string, "UMLS_CUI:C0334556"^^xsd:string ; oboInOwl:hasExactSynonym "adamantinoma of long bones"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2776"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adamantinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_184 ; skos:exactMatch "MESH:D050398"^^xsd:string . obo:DOID_2777 oboInOwl:hasExactSynonym "malignant neoplasm of short bone of upper limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2777"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of short bones of upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_2778 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2778"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tumors of body of uterus, with delivery"^^xsd:string ; owl:deprecated true . obo:DOID_2779 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2779"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_2780 oboInOwl:hasDbXref "NCI:C4877"^^xsd:string, "SNOMEDCT_US_2021_03_01:126848003"^^xsd:string, "UMLS_CUI:C0345873"^^xsd:string ; oboInOwl:hasExactSynonym "Rectosigmoid tumor"@en, "neoplasm of rectosigmoid junction"@en, "rectosigmoid neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2780"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectosigmoid junction neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1896 . obo:DOID_2781 oboInOwl:hasDbXref "NCI:C7421"^^xsd:string, "UMLS_CUI:C1327709"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2781"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectosigmoid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2782 . obo:DOID_2782 oboInOwl:hasDbXref "ICD10CM:C19"^^xsd:string, "ICD9CM:154.0"^^xsd:string, "NCI:C7420"^^xsd:string, "SNOMEDCT_US_2021_03_01:363414004"^^xsd:string, "UMLS_CUI:C0153443"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Rectosigmoid tumor"@en, "malignant neoplasm of rectosigmoid"@en, "malignant neoplasm of rectosigmoid junction"@en, "malignant tumor of rectosigmoid junction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectosigmoid junction cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_12192 . obo:DOID_2784 obo:IAO_0000115 "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4860"^^xsd:string, "UMLS_CUI:C0598790"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2784"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_1324, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_2785 obo:IAO_0000115 "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle."^^xsd:string ; oboInOwl:hasDbXref "GARD:6242"^^xsd:string, "ICD10CM:Q03.1"^^xsd:string, "MESH:D003616"^^xsd:string, "NCI:C75012"^^xsd:string, "OMIM:220200"^^xsd:string, "SNOMEDCT_US_2021_03_01:14447001"^^xsd:string, "UMLS_CUI:C0010964"^^xsd:string ; oboInOwl:hasExactSynonym "Atresia of foramina of Magendie and Luschka"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2785"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Dandy-Walker syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2786 . obo:DOID_2786 obo:IAO_0000115 "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002526"^^xsd:string, "SNOMEDCT_US_2021_03_01:267691001"^^xsd:string, "UMLS_CUI:C0007760"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2786"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "cerebellar disease"^^xsd:string ; rdfs:subClassOf obo:DOID_936 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] ) ] . obo:DOID_2788 obo:IAO_0000115 "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2788"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ciliophora infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2789 obo:IAO_0000115 "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060003"^^xsd:string, "DOID:10553"^^xsd:string, "DOID:3734"^^xsd:string, "DOID:3804"^^xsd:string, "DOID:947"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B64"^^xsd:string, "MESH:D011528"^^xsd:string, "NCI:C34953"^^xsd:string, "SNOMEDCT_US_2021_03_01:95896000"^^xsd:string, "UMLS_CUI:C0033740"^^xsd:string ; oboInOwl:hasExactSynonym "mastigophora infectious disease"@en, "sarcomastigophora infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2789"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parasitic protozoa infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1398 . obo:DOID_2790 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13048"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B76.1"^^xsd:string, "MESH:D009332"^^xsd:string, "NCI:C34838"^^xsd:string, "SNOMEDCT_US_2021_03_01:36667009"^^xsd:string, "UMLS_CUI:C0027528"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2790"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necatoriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_51031 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000375 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_2791 obo:IAO_0000115 "A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10954"^^xsd:string ; oboInOwl:hasExactSynonym "ancylostomiasis and necatoriasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2791"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hookworm infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2797 obo:IAO_0000115 "A pneumonia located_in the lung parenchyma of unknown cause."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.114"^^xsd:string, "MESH:D000080203"^^xsd:string, "SNOMEDCT_US_2021_03_01:129459004"^^xsd:string, "UMLS_CUI:C0085786"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse idiopathic pulmonary fibrosis"@en, "Idiopathic fibrosing alveolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "IPF"@en ; oboInOwl:id "DOID:2797"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_2799 obo:IAO_0000115 "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults."^^xsd:string ; oboInOwl:hasDbXref "GARD:9551"^^xsd:string, "MESH:D001989"^^xsd:string, "NCI:C62580"^^xsd:string, "SNOMEDCT_US_2021_03_01:40100001"^^xsd:string, "UMLS_CUI:C0006272"^^xsd:string ; oboInOwl:hasExactSynonym "Bronchiolitis exudativa"@en, "Bronchiolitis fibrosa obliterans"@en, "Obliterative bronchiolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchiolitis obliterans"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] . obo:DOID_28 obo:IAO_0000115 "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E34.9"^^xsd:string, "ICD9CM:259.9"^^xsd:string, "MESH:D004700"^^xsd:string, "NCI:C3009"^^xsd:string, "SNOMEDCT_US_2021_03_01:67432001"^^xsd:string, "UMLS_CUI:C0014130"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:28"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocrine system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000949 ] ) ] . obo:DOID_280 oboInOwl:hasExactSynonym "tuberculosis of ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:280"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete ear tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_2800 obo:IAO_0000115 "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure."^^xsd:string ; oboInOwl:hasDbXref "GARD:12835"^^xsd:string, "ICD10CM:J84.114"^^xsd:string, "ICD9CM:516.33"^^xsd:string, "NCI:C35806"^^xsd:string, "ORDO:79126"^^xsd:string, "SNOMEDCT_US_2021_03_01:129459004"^^xsd:string, "UMLS_CUI:C1279945"^^xsd:string ; oboInOwl:hasExactSynonym "AIP"@en, "Hamman-Rich disease"@en, "Hamman-Rich syndrome"@en, "Idiopathic pulmonary fibrosis, acute fatal form"@en, "accelerated interstitial pneumonia"@en, "acute interstitial pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_2801 obo:IAO_0000115 "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35717"^^xsd:string, "SNOMEDCT_US_2021_03_01:129452008"^^xsd:string, "UMLS_CUI:C1290344"^^xsd:string ; oboInOwl:hasExactSynonym "NSIP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nonspecific interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000025 ] . obo:DOID_2809 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2809"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Bartonellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2810 obo:IAO_0000115 "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008878"^^xsd:string, "SNOMEDCT_US_2021_03_01:28295001"^^xsd:string, "UMLS_CUI:C0026069"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2810"^^xsd:string ; a owl:Class ; rdfs:label "middle lobe syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000709 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] ; skos:exactMatch "MESH:D008878"^^xsd:string . obo:DOID_2814 oboInOwl:hasDbXref "ICD10CM:C72.4"^^xsd:string, "NCI:C4539"^^xsd:string, "SNOMEDCT_US_2021_03_01:93660000"^^xsd:string, "UMLS_CUI:C0346331"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of acoustic vestibular nerve"@en, "malignant tumor of the Vestibulocochlear nerve"@en, "malignant tumour of acoustic vestibular nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2814"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant neoplasm of acoustic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_12657, obo:DOID_2815, obo:DOID_833 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001648 ] ) ] . obo:DOID_2815 oboInOwl:hasDbXref "ICD10CM:C72.50"^^xsd:string, "ICD9CM:192.0"^^xsd:string, "MESH:D003390"^^xsd:string, "NCI:C3571"^^xsd:string, "SNOMEDCT_US_2021_03_01:188311003"^^xsd:string, "UMLS_CUI:C0153644"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of cranial nerve"@en, "malignant neoplasm of cranial nerves"@en, "malignant tumor of cranial nerve"@en, "malignant tumor of the Cranial nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2815"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial nerve malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_2816 oboInOwl:hasDbXref "NCI:C6995"^^xsd:string, "SNOMEDCT_US_2021_03_01:93929003"^^xsd:string, "UMLS_CUI:C0686417"^^xsd:string ; oboInOwl:hasExactSynonym "IIIrd Cranial nerve neoplasm, malignant"@en, "primary malignant neoplasm of oculomotor nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2816"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant oculomotor nerve tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2815, obo:DOID_2817 . obo:DOID_2817 oboInOwl:hasDbXref "NCI:C6994"^^xsd:string, "SNOMEDCT_US_2021_03_01:126969002"^^xsd:string, "UMLS_CUI:C1263895"^^xsd:string ; oboInOwl:hasExactSynonym "Oculomotor nerve tumor"@en, "Oculomotor nerve tumour"@en, "cranial nerve III tumour"@en, "neoplasm of oculomotor nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial nerve III tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_338, obo:DOID_562, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001643 ] . obo:DOID_2825 oboInOwl:hasDbXref "MESH:D009668"^^xsd:string, "SNOMEDCT_US_2021_03_01:89488007"^^xsd:string, "UMLS_CUI:C0028432"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of the nose"@en, "nasal disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2825"^^xsd:string ; a owl:Class ; rdfs:label "nose disease"^^xsd:string ; rdfs:subClassOf obo:DOID_974 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000004 ] ) ] . obo:DOID_2828 oboInOwl:hasAlternativeId "DOID:2827"^^xsd:string ; oboInOwl:hasDbXref "MESH:D042101"^^xsd:string, "NCI:C35578"^^xsd:string, "SNOMEDCT_US_2021_03_01:19968009"^^xsd:string, "UMLS_CUI:C0267841"^^xsd:string ; oboInOwl:hasExactSynonym "acute acalculous cholecystitis"@en, "acute cholecystitis without calculus"@en, "cholecystitis without calculus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2828"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acalculous cholecystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1949 ; skos:exactMatch "MESH:D042101"^^xsd:string . obo:DOID_283 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes"@en, "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder)"@en, "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:283"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_2832 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B48.3"^^xsd:string, "MESH:D005847"^^xsd:string, "SNOMEDCT_US_2021_03_01:187105008"^^xsd:string, "UMLS_CUI:C0017455"^^xsd:string ; oboInOwl:hasExactSynonym "Geotrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2832"^^xsd:string ; a owl:Class ; rdfs:label "geotrichosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1173061 ] . obo:DOID_2833 oboInOwl:hasDbXref "NCI:C27310"^^xsd:string, "UMLS_CUI:C0856815"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2833"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dehydration polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2834 . obo:DOID_2834 oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "ICD9CM:289.0"^^xsd:string, "NCI:C27178"^^xsd:string, "SNOMEDCT_US_2021_03_01:154835002"^^xsd:string, "UMLS_CUI:C1318533"^^xsd:string ; oboInOwl:hasExactSynonym "Polycythemia, secondary"@en, "secondary Polycythemia"@en, "secondary polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2834"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acquired polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_2835 oboInOwl:hasDbXref "NCI:C27312"^^xsd:string, "UMLS_CUI:C0856818"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2835"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polycythemia due to hypoxia"^^xsd:string ; rdfs:subClassOf obo:DOID_2834 . obo:DOID_2838 oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "NCI:C27174"^^xsd:string, "SNOMEDCT_US_2021_03_01:191371001"^^xsd:string, "UMLS_CUI:C0541719"^^xsd:string ; oboInOwl:hasExactSynonym "Gaisbock's syndrome"@en, "Polycythemia, emotional"@en, "Stress Polycythemia"@en, "Stress polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "stress polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2834 . obo:DOID_2839 oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "NCI:C35434"^^xsd:string, "SNOMEDCT_US_2021_03_01:367328005"^^xsd:string, "UMLS_CUI:C0391869"^^xsd:string ; oboInOwl:hasExactSynonym "Nephrogenous polycythemia"@en, "Polycythaemia due to Excess Erythropoetin Production"@en, "Polycythemia due to excess erythopoetin production"@en, "Polycythemia, nephrogenous"@en, "secondary polycythemia with excess erythropoietin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2839"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "erythropoietin polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2834 . obo:DOID_284 oboInOwl:hasExactSynonym "malignant tumor of abdomen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of abdomen"^^xsd:string ; owl:deprecated true . obo:DOID_2841 obo:IAO_0000115 "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12703"^^xsd:string, "DOID:13829"^^xsd:string, "DOID:13830"^^xsd:string, "DOID:2840"^^xsd:string, "DOID:5783"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000270"^^xsd:string, "GARD:10246"^^xsd:string, "ICD10CM:J45"^^xsd:string, "ICD9CM:493"^^xsd:string, "KEGG:05310"^^xsd:string, "MESH:D001249"^^xsd:string, "NCI:C28397"^^xsd:string, "OMIM:600807"^^xsd:string, "SNOMEDCT_US_2021_03_01:187687003"^^xsd:string, "UMLS_CUI:C0004096"^^xsd:string ; oboInOwl:hasExactSynonym "Exercise induced asthma"@en, "bronchial hyperreactivity"@en, "chronic obstructive asthma"@en, "chronic obstructive asthma with acute exacerbation"@en, "chronic obstructive asthma with status asthmaticus"@en, "exercise-induced asthma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002795 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000604 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] ; skos:exactMatch "MESH:D001249"^^xsd:string . obo:DOID_2842 oboInOwl:hasDbXref "GARD:3048"^^xsd:string, "MESH:D029593"^^xsd:string, "NCI:C84793"^^xsd:string, "OMIM:220400"^^xsd:string, "OMIM:612347"^^xsd:string, "SNOMEDCT_US_2021_03_01:49518001"^^xsd:string, "UMLS_CUI:C0022387"^^xsd:string ; oboInOwl:hasExactSynonym "Jervell and Lange-Nielson syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2842"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Jervell-Lange Nielsen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2843 . obo:DOID_2843 obo:IAO_0000115 "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4069"^^xsd:string ; oboInOwl:hasDbXref "GARD:6922"^^xsd:string, "ICD10CM:I45.81"^^xsd:string, "ICD9CM:426.82"^^xsd:string, "MESH:D008133"^^xsd:string, "NCI:C34786"^^xsd:string, "OMIM:PS192500"^^xsd:string, "ORDO:101016"^^xsd:string, "ORDO:768"^^xsd:string, "SNOMEDCT_US_2021_03_01:9651007"^^xsd:string, "UMLS_CUI:C0023976"^^xsd:string ; oboInOwl:hasExactSynonym "LQT"@en, "Romano-Ward syndrome"@en, "long Q-T syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2843"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "long QT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000287 ] . obo:DOID_2846 obo:IAO_0000115 "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8891"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F45.8"^^xsd:string, "ICD10CM:G47.63"^^xsd:string, "ICD9CM:327.53"^^xsd:string, "MESH:D002012"^^xsd:string, "MESH:D020186"^^xsd:string, "NCI:C73511"^^xsd:string, "SNOMEDCT_US_2021_03_01:274950005"^^xsd:string, "SNOMEDCT_US_2021_03_01:90207007"^^xsd:string, "UMLS_CUI:C0006325"^^xsd:string, "UMLS_CUI:C0393774"^^xsd:string ; oboInOwl:hasExactSynonym "Bruxism - teeth grinding"@en, "Grinding teeth"@en, "Teeth grinding"@en, "sleep related bruxism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2846"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bruxism"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_2848 oboInOwl:hasDbXref "MESH:D003866"^^xsd:string, "NCI:C34812"^^xsd:string, "SNOMEDCT_US_2021_03_01:35489007"^^xsd:string, "UMLS_CUI:C0025193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melancholia"^^xsd:string ; rdfs:subClassOf obo:DOID_1596 . obo:DOID_285 obo:IAO_0000115 "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope."^^xsd:string ; oboInOwl:hasDbXref "GARD:6560"^^xsd:string, "ICD10CM:C91.4"^^xsd:string, "ICD9CM:202.4"^^xsd:string, "MESH:D007943"^^xsd:string, "NCI:C7402"^^xsd:string, "SNOMEDCT_US_2021_03_01:118613001"^^xsd:string, "UMLS_CUI:C0023443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:285"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hairy cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1040 . obo:DOID_2853 oboInOwl:hasExactSynonym "Hypoplasia of thyroid (disorder)"@en, "Hypoplasia of thyroid (disorder) [Ambiguous]"@en, "Thyroid Atrophy"@en, "Thyroid atrophy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2853"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atrophy of thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_2855 obo:IAO_0000115 "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006981"^^xsd:string, "NCI:C131850"^^xsd:string, "UMLS_CUI:C0020551"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2855"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperthyroxinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_50 ; skos:exactMatch "MESH:D006981"^^xsd:string . obo:DOID_2856 oboInOwl:hasDbXref "ICD10CM:E07.81"^^xsd:string, "ICD9CM:790.94"^^xsd:string, "MESH:D005067"^^xsd:string, "NCI:C113170"^^xsd:string, "SNOMEDCT_US_2021_03_01:237542005"^^xsd:string, "UMLS_CUI:C0015190"^^xsd:string ; oboInOwl:hasExactSynonym "Euthyroid sick syndrome"@en, "Sick-euthyroid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "euthyroid sick syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_2857 oboInOwl:hasExactSynonym "Thyroid gland abscess"@en, "abscess of thyroid (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2857"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abscess of thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_2859 oboInOwl:hasDbXref "GARD:2640"^^xsd:string, "ICD10CM:D58.2"^^xsd:string, "MESH:D006445"^^xsd:string, "NCI:C34675"^^xsd:string, "SNOMEDCT_US_2021_03_01:51053007"^^xsd:string, "UMLS_CUI:C0019021"^^xsd:string ; oboInOwl:hasExactSynonym "Hb-C disease"@en, "Hemoglobin C disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2859"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemoglobin C disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2860 . obo:DOID_2860 oboInOwl:hasDbXref "GARD:12455"^^xsd:string, "ICD10CM:D58.2"^^xsd:string, "MESH:D006453"^^xsd:string, "NCI:C3092"^^xsd:string, "SNOMEDCT_US_2021_03_01:154794008"^^xsd:string, "UMLS_CUI:C0019045"^^xsd:string ; oboInOwl:hasExactSynonym "hemoglobinopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2860"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemoglobinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_589 . obo:DOID_2861 oboInOwl:hasDbXref "MESH:D000746"^^xsd:string, "OMIM:206300"^^xsd:string, "OMIM:206400"^^xsd:string, "OMIM:300908"^^xsd:string, "OMIM:613470"^^xsd:string, "ORDO:712"^^xsd:string, "SNOMEDCT_US_2021_03_01:82775009"^^xsd:string, "UMLS_CUI:C0002882"^^xsd:string ; oboInOwl:hasExactSynonym "HNSHA"@en, "congenital nonspherocytic hemolytic anaemia"@en, "hereditary nonspherocytic hemolytic anaemia"@en, "hereditary nonspherocytic hemolytic anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2861"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "congenital nonspherocytic hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_2862 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)."^^xsd:string ; oboInOwl:hasDbXref "GARD:6520"^^xsd:string, "MESH:D005955"^^xsd:string, "NCI:C98933"^^xsd:string, "SNOMEDCT_US_2021_03_01:124134002"^^xsd:string, "UMLS_CUI:C2939465"^^xsd:string ; oboInOwl:hasExactSynonym "Glucose-6-phosphate dehydrogenase deficiency"@en, "deficiency of G-6PD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2862"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glucosephosphate dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_287 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "visual disorder"@en ; oboInOwl:id "DOID:287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vision disorder"^^xsd:string ; owl:deprecated true . obo:DOID_2870 obo:IAO_0000115 "An endometrial carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5827"^^xsd:string, "DOID:6650"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6287"^^xsd:string, "NCI:C6290"^^xsd:string, "NCI:C7359"^^xsd:string, "SNOMEDCT_US_2021_03_01:123845008"^^xsd:string, "SNOMEDCT_US_2021_03_01:762458004"^^xsd:string, "UMLS_CUI:C0279763"^^xsd:string, "UMLS_CUI:C1153706"^^xsd:string, "UMLS_CUI:C1336905"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of endometrium"@en, "adenocarcinoma of the Endometrium"@en, "adenocarcinoma of uterus"@en, "endometrial adenoacanthoma"@en, "endometrial endometrioid adenocarcinoma"@en, "endometrial endometrioid adenocarcinoma with squamous differentiation"@en, "endometrioid adenoma or carcinoma"@en, "endometrioid adenomas and carcinomas"@en, "endometrioid carcinoma of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2870"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2871, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_2871 obo:IAO_0000115 "A endometrial cancer that is located_in the tissue lining the uterus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3000"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016889"^^xsd:string, "MESH:D018269"^^xsd:string, "NCI:C7558"^^xsd:string, "SNOMEDCT_US_2021_03_01:30289006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93781006"^^xsd:string, "UMLS_CUI:C0206687"^^xsd:string, "UMLS_CUI:C0476089"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the Endometrium"@en, "endometrioid carcinoma"@en, "endometrioid carcinoma of female Reproductive system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2871"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "endometrial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1380, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] . obo:DOID_2873 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2873"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the larynx"^^xsd:string ; owl:deprecated true . obo:DOID_2874 oboInOwl:hasExactSynonym "metastatic tumor to the neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2874"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the neck"^^xsd:string ; owl:deprecated true . obo:DOID_2876 obo:IAO_0000115 "A laryngeal carcinoma that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000077195"^^xsd:string, "NCI:C4044"^^xsd:string, "SNOMEDCT_US_2021_03_01:707358000"^^xsd:string, "UMLS_CUI:C0280324"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Larynx"@en, "squamous cell carcinoma of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2876"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2600, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] . obo:DOID_2877 obo:IAO_0000115 "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6020"^^xsd:string, "UMLS_CUI:C1334377"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2877"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_2596, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_2878 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2878"^^xsd:string ; a owl:Class ; rdfs:label "obsolete throat carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_2879 oboInOwl:hasDbXref "ICD10CM:H18.45"^^xsd:string, "ICD9CM:371.46"^^xsd:string, "SNOMEDCT_US_2021_03_01:72620002"^^xsd:string, "UMLS_CUI:C0155122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2879"^^xsd:string ; a owl:Class ; rdfs:label "nodular degeneration of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_288 obo:IAO_0000115 "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.0"^^xsd:string, "ICD9CM:617.0"^^xsd:string, "MESH:D062788"^^xsd:string, "NCI:C6996"^^xsd:string, "OMIM:600458"^^xsd:string, "SNOMEDCT_US_2021_03_01:76376003"^^xsd:string, "UMLS_CUI:C0341858"^^xsd:string ; oboInOwl:hasExactSynonym "Endometriosis interna"@en, "Endometriosis of myometrium"@en, "Endometriosis, myometrium"@en, "adenomyosis"@en, "uterine Adenomyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:288"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "endometriosis of uterus"^^xsd:string ; rdfs:subClassOf obo:DOID_289, obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001296 ] ) ] . obo:DOID_2880 obo:IAO_0000115 "A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2880"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Hantavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2882 oboInOwl:hasExactSynonym "Cysts of iris, ciliary body and anterior chamber (disorder)"@en, "Cysts of iris, ciliary body and anterior chamber NOS (disorder)"@en, "Cysts of iris, ciliary body, and anterior chamber"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2882"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cysts of iris, ciliary body and anterior chamber"^^xsd:string ; owl:deprecated true . obo:DOID_2883 obo:IAO_0000115 "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011470"^^xsd:string, "NCI:C4795"^^xsd:string, "SNOMEDCT_US_2021_03_01:21173002"^^xsd:string, "UMLS_CUI:C0520477"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma - prostate"@en, "adenoma of prostate"@en, "benign adenoma of prostate"@en, "prostate adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2883"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostatic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060087, obo:DOID_47, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_2885 oboInOwl:hasAlternativeId "DOID:2886"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5532"^^xsd:string, "NCI:C7574"^^xsd:string, "UMLS_CUI:C1332535"^^xsd:string, "UMLS_CUI:C1335409"^^xsd:string ; oboInOwl:hasExactSynonym "Phyllodes neoplasm of the prostate"@en, "benign Phyllodes neoplasm of the prostate"@en, "benign prostate phyllodes tumour"@en, "prostate phyllodes tumor"@en, "prostate phyllodes tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2885"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign prostate phyllodes tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087 . obo:DOID_2887 obo:IAO_0000115 "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5544"^^xsd:string, "UMLS_CUI:C1335510"^^xsd:string ; oboInOwl:hasExactSynonym "Prostatic leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2887"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_127, obo:DOID_47, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_2889 oboInOwl:hasDbXref "MESH:D012181"^^xsd:string, "UMLS_CUI:C0035352"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2889"^^xsd:string ; a owl:Class ; rdfs:label "retrocochlear disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_289 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001065"^^xsd:string, "ICD10CM:N80"^^xsd:string, "ICD9CM:617"^^xsd:string, "MESH:D004715"^^xsd:string, "NCI:C3014"^^xsd:string, "SNOMEDCT_US_2021_03_01:11871002"^^xsd:string, "UMLS_CUI:C0014175"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] ) ] . obo:DOID_2890 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2890"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Klebsiella infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2891 obo:IAO_0000115 "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013964"^^xsd:string, "NCI:C3502"^^xsd:string, "SNOMEDCT_US_2021_03_01:189174004"^^xsd:string, "UMLS_CUI:C0151468"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2891"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_50, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002046 ] . obo:DOID_2892 obo:IAO_0000115 "A cervix carcinoma that is located_in the exocervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7453"^^xsd:string, "SNOMEDCT_US_2021_03_01:372100004"^^xsd:string, "UMLS_CUI:C1299238"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of exocervix"@en, "carcinoma of the Exocervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2892"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exocervical carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893 . obo:DOID_2893 obo:IAO_0000115 "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9039"^^xsd:string, "SNOMEDCT_US_2021_03_01:285432005"^^xsd:string, "UMLS_CUI:C0302592"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of cervix"@en, "carcinoma cervix uteri"@en, "carcinoma of cervix"@en, "carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2893"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cervix carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4362, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_2898 oboInOwl:hasExactSynonym "Streptococcal infection, unspecified (disorder)"@en, "Streptococcal infectious disease (disorder)"@en, "Streptococcus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2898"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal streptococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2905 oboInOwl:hasExactSynonym "E Coli Infection"@en, "Escherichia coli infection"@en, "Infection due to Escherichia coli (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2905"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2906 obo:IAO_0000115 "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2906"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rhabditida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2907 obo:IAO_0000115 "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch."^^xsd:string ; oboInOwl:hasDbXref "GARD:6540"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:D006053"^^xsd:string, "NCI:C84740"^^xsd:string, "OMIM:164210"^^xsd:string, "ORDO:374"^^xsd:string, "SNOMEDCT_US_2021_03_01:46567003"^^xsd:string, "UMLS_CUI:C0265240"^^xsd:string ; oboInOwl:hasExactSynonym "Facio-auriculo-vertebral spectrum"@en, "First AND second branchial arch syndrome"@en, "First arch syndrome"@en, "HEMIFACIAL MICROSOMIA"@en, "OAV (oculoauriculovertebral) dysplasia"@en, "Otomandibular dysostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2907"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Goldenhar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_2908 obo:IAO_0000115 "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:9124"^^xsd:string, "ICD10CM:Q75.4"^^xsd:string, "MESH:D008342"^^xsd:string, "NCI:C75018"^^xsd:string, "OMIM:PS154500"^^xsd:string, "SNOMEDCT_US_2021_03_01:205416009"^^xsd:string, "UMLS_CUI:C0242387"^^xsd:string ; oboInOwl:hasExactSynonym "Franceschetti syndrome"@en, "Mandibulofacial dysostosis"@en, "mandibulofacial dysostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2908"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Treacher Collins syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:D008342"^^xsd:string . obo:DOID_2910 oboInOwl:hasExactSynonym "Septic abortion (disorder)"@en, "abortion with sepsis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2910"^^xsd:string ; a owl:Class ; rdfs:label "obsolete septic abortion"^^xsd:string ; owl:deprecated true . obo:DOID_2913 obo:IAO_0000115 "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2912"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K85"^^xsd:string, "ICD9CM:577.0"^^xsd:string, "MESH:D010195"^^xsd:string, "NCI:C95437"^^xsd:string, "SNOMEDCT_US_2021_03_01:39726008"^^xsd:string, "UMLS_CUI:C0001339"^^xsd:string ; oboInOwl:hasExactSynonym "PANCREATITIS NECROTIZING"@en, "acute necrotizing pancreatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute pancreatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4989 . obo:DOID_2914 obo:IAO_0000115 "A disease of anatomical entity that is located_in the immune system."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000540"^^xsd:string, "ICD10CM:D89.9"^^xsd:string, "ICD9CM:279.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:154782004"^^xsd:string, "UMLS_CUI:C0041806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2914"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "immune system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002405 ] ) ] . obo:DOID_2916 obo:IAO_0000115 "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C88.9"^^xsd:string, "MESH:D007160"^^xsd:string, "SNOMEDCT_US_2021_03_01:127071007"^^xsd:string, "UMLS_CUI:C0021070"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "immunoproliferative disease"@en ; oboInOwl:id "DOID:2916"^^xsd:string ; a owl:Class ; rdfs:label "hypersensitivity reaction type IV disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060056 . obo:DOID_2917 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures."^^xsd:string ; oboInOwl:hasDbXref "GARD:6217"^^xsd:string, "ICD10CM:D89.1"^^xsd:string, "MESH:D003449"^^xsd:string, "NCI:C26736"^^xsd:string, "SNOMEDCT_US_2021_03_01:30911005"^^xsd:string, "UMLS_CUI:C0010403"^^xsd:string ; oboInOwl:hasExactSynonym "CRYOGLOBULINEMIA"@en, "Cryoimmunoglobulinaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cryoglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 . obo:DOID_2918 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood."^^xsd:string ; oboInOwl:hasExactSynonym "Paraproteinaemia"@en, "Paraproteinemia"@en, "Paraproteinemia (disorder)"@en, "Paraproteinemia NOS (disorder)"@en, "paraproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2918"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paraproteinemia"^^xsd:string ; owl:deprecated true . obo:DOID_292 oboInOwl:hasDbXref "NCI:C5102"^^xsd:string, "SNOMEDCT_US_2021_03_01:416510003"^^xsd:string, "UMLS_CUI:C1334361"^^xsd:string ; oboInOwl:hasExactSynonym "lacrimal system neoplasm"@en, "neoplasm of lacrimal system"@en, "tumor of the lacrimal system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1400, obo:DOID_2174 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001750 ] ) ] . obo:DOID_2920 oboInOwl:hasDbXref "GARD:11982"^^xsd:string, "MESH:D015432"^^xsd:string, "NCI:C34644"^^xsd:string, "OMIM:305800"^^xsd:string, "SNOMEDCT_US_2021_03_01:80321008"^^xsd:string, "UMLS_CUI:C0017662"^^xsd:string ; oboInOwl:hasExactSynonym "Lobular glomerulonephritis"@en, "chronic glomerulonephritis, lobular"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2920"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "membranoproliferative glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_2921 obo:IAO_0000115 "A nephritis that causes inflammation of the glomeruli located_in kidney."^^xsd:string ; oboInOwl:hasDbXref "GARD:6516"^^xsd:string, "ICD10CM:N08"^^xsd:string, "MESH:D005921"^^xsd:string, "NCI:C26784"^^xsd:string, "SNOMEDCT_US_2021_03_01:36171008"^^xsd:string, "UMLS_CUI:C0017658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2921"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10952, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000098 ] . obo:DOID_2926 obo:IAO_0000115 "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "MESH:D007715"^^xsd:string, "NCI:C84801"^^xsd:string, "OMIM:149000"^^xsd:string, "SNOMEDCT_US_2021_03_01:59078009"^^xsd:string, "UMLS_CUI:C0022739"^^xsd:string ; oboInOwl:hasExactSynonym "Haemangiectatic hypertrophy"@en, "Klippel-Trenaunay-Weber syndrome"@en, "angioosteohypertrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2926"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Klippel-Trenaunay syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_2929 obo:IAO_0000115 "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009521"^^xsd:string, "NCI:C34849"^^xsd:string, "SNOMEDCT_US_2021_03_01:258300000"^^xsd:string, "UMLS_CUI:C0027983"^^xsd:string ; oboInOwl:hasExactSynonym "Newcastle's disease"@en, "Pseudo-fowlpest"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Newcastle disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2560319 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000128 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_293 oboInOwl:hasDbXref "NCI:C6129"^^xsd:string, "UMLS_CUI:C1334358"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_294, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_2930 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2930"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Avulavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2934 obo:IAO_0000115 "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000453"^^xsd:string, "SNOMEDCT_US_2021_03_01:62251004"^^xsd:string, "UMLS_CUI:C0002016"^^xsd:string ; oboInOwl:hasExactSynonym "Aleutian disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2934"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "aleutian mink disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_28314 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000208 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000460 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] ; skos:exactMatch "MESH:D000453"^^xsd:string . obo:DOID_2935 obo:IAO_0000115 "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:6035"^^xsd:string, "ICD10CM:E70.330"^^xsd:string, "MESH:D002609"^^xsd:string, "NCI:C2941"^^xsd:string, "OMIM:214500"^^xsd:string, "ORDO:167"^^xsd:string, "SNOMEDCT_US_2021_03_01:111396008"^^xsd:string, "UMLS_CUI:C0007965"^^xsd:string ; oboInOwl:hasExactSynonym "CHS"@en, "Chediak - Steinbrinck anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2935"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Chediak-Higashi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_2936 obo:IAO_0000115 "A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2936"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Parvoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2937 obo:IAO_0000115 "A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2937"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Human herpesvirus 8 infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2938 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva."^^xsd:string ; oboInOwl:hasExactSynonym "EBV Infection"@en, "Epstein-Barr virus infection (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tumor Virus Infections"@en ; oboInOwl:id "DOID:2938"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Epstein-Barr virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2939 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses."^^xsd:string ; oboInOwl:hasExactSynonym "Herpesviridae disease"@en, "Herpesvirus infection (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2939"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpesviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_294 oboInOwl:hasAlternativeId "DOID:291"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:190.2"^^xsd:string, "NCI:C3563"^^xsd:string, "NCI:C4360"^^xsd:string, "SNOMEDCT_US_2021_03_01:127004000"^^xsd:string, "SNOMEDCT_US_2021_03_01:188271007"^^xsd:string, "UMLS_CUI:C0153627"^^xsd:string, "UMLS_CUI:C0339124"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lacrimal gland"@en, "malignant tumour of lacrimal gland"@en, "neoplasm of lacrimal gland"@en, "tumor of the lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:294"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_292 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] ) ] . obo:DOID_2942 obo:IAO_0000115 "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001988"^^xsd:string, "NCI:C39658"^^xsd:string, "SNOMEDCT_US_2021_03_01:4120002"^^xsd:string, "UMLS_CUI:C0006271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2942"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchiolitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] . obo:DOID_2943 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses."^^xsd:string ; oboInOwl:hasExactSynonym "Poxviridae disease"@en, "disease due to unassigned Poxviridae (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2943"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Poxviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2945 obo:IAO_0000115 "A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia."^^xsd:string ; oboInOwl:hasDbXref "GARD:9237"^^xsd:string, "ICD10CM:J12.81"^^xsd:string, "ICD9CM:079.82"^^xsd:string, "MESH:D045169"^^xsd:string, "NCI:C85064"^^xsd:string, "SNOMEDCT_US_2021_03_01:398447004"^^xsd:string, "UMLS_CUI:C1175175"^^xsd:string ; oboInOwl:hasExactSynonym "SARS"@en, "SARS-CoV infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2945"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "severe acute respiratory syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_694009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000025 ] . obo:DOID_2946 obo:IAO_0000115 "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2946"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coronavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2947 obo:IAO_0000115 "A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2947"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yellow fever virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2948 obo:IAO_0000115 "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2948"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Coronaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2949 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2949"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Nidovirales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_295 obo:IAO_0000115 "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6079"^^xsd:string, "UMLS_CUI:C0848866"^^xsd:string ; oboInOwl:hasExactSynonym "Ocular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of eye"@en ; oboInOwl:id "DOID:295"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eye carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2174, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_2950 obo:IAO_0000115 "A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2950"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Orbivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_2951 oboInOwl:hasDbXref "ICD10CM:T75.3"^^xsd:string, "ICD9CM:994.6"^^xsd:string, "MESH:D009041"^^xsd:string, "NCI:C34824"^^xsd:string, "OMIM:158280"^^xsd:string, "SNOMEDCT_US_2021_03_01:37031009"^^xsd:string, "UMLS_CUI:C0026603"^^xsd:string ; oboInOwl:hasExactSynonym "Travel Sickness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2951"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "motion sickness"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_2952 oboInOwl:hasDbXref "ICD10CM:H83.9"^^xsd:string, "MESH:D007759"^^xsd:string, "NCI:C128369"^^xsd:string, "NCI:C27166"^^xsd:string, "SNOMEDCT_US_2021_03_01:194690003"^^xsd:string, "SNOMEDCT_US_2021_03_01:20425006"^^xsd:string, "UMLS_CUI:C0022890"^^xsd:string, "UMLS_CUI:C0494559"^^xsd:string ; oboInOwl:hasExactSynonym "labyrinthine disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2952"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inner ear disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001846 ] ) ] . obo:DOID_2956 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2956"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intra-abdominal lymphangioma"^^xsd:string ; owl:deprecated true . obo:DOID_2957 obo:IAO_0000115 "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A15"^^xsd:string, "ICD9CM:011"^^xsd:string, "MESH:D014397"^^xsd:string, "NCI:C26899"^^xsd:string, "SNOMEDCT_US_2021_03_01:81483001"^^xsd:string, "UMLS_CUI:C0041327"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2957"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pulmonary tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_399, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_2958 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2958"^^xsd:string ; a owl:Class ; rdfs:label "obsolete environmental illness"^^xsd:string ; owl:deprecated true . obo:DOID_2959 obo:IAO_0000115 "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27579"^^xsd:string, "UMLS_CUI:C1334069"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2959"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperimmunoglobulin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2115 . obo:DOID_296 oboInOwl:hasDbXref "NCI:C6804"^^xsd:string, "SNOMEDCT_US_2021_03_01:254989000"^^xsd:string, "UMLS_CUI:C0346342"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma Ex Pleomorphic adenoma of the lacrimal gland"@en, "carcinoma ex pleomorphic adenoma of lacrimal gland"@en, "malignant mixed neoplasm of lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:296"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed lacrimal gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_294, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_2960 obo:IAO_0000115 "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054463"^^xsd:string, "NCI:C4924"^^xsd:string, "OMIM:PS601675"^^xsd:string, "SNOMEDCT_US_2020_03_01:723551003"^^xsd:string ; oboInOwl:hasExactSynonym "IBIDS syndrome"@en, "TTD-P"^^xsd:string, "Tay syndrome"@en, "sulfur-deficient brittle hair syndrome"@en, "trichothiodystrophy with congenital ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2960"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "photosensitive trichothiodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0111866 . obo:DOID_2961 obo:IAO_0000115 "A monogenic disease that results from a reduced functionality of DNA repair."^^xsd:string ; oboInOwl:hasExactSynonym "DNA Repair disorder"@en, "deficiency of DNA repair (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2961"^^xsd:string ; a owl:Class ; rdfs:label "obsolete DNA repair deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_2962 obo:IAO_0000115 "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development."^^xsd:string ; oboInOwl:hasDbXref "GARD:6122"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:D003057"^^xsd:string, "NCI:C9460"^^xsd:string, "ORDO:191"^^xsd:string, "SNOMEDCT_US_2021_03_01:205832003"^^xsd:string, "UMLS_CUI:C0009207"^^xsd:string ; oboInOwl:hasExactSynonym "Neill-Dingwall syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Cockayne's syndrome"@en ; oboInOwl:id "DOID:2962"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Cockayne syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:D003057"^^xsd:string . obo:DOID_2964 oboInOwl:hasDbXref "ICD10CM:M77.9"^^xsd:string, "MESH:D010489"^^xsd:string, "SNOMEDCT_US_2021_03_01:50921008"^^xsd:string, "UMLS_CUI:C0031037"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2964"^^xsd:string ; a owl:Class ; rdfs:label "periarthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2965 . obo:DOID_2965 oboInOwl:hasDbXref "ICD10CM:M71.9"^^xsd:string, "MESH:D002062"^^xsd:string, "NCI:C94407"^^xsd:string, "SNOMEDCT_US_2021_03_01:156677003"^^xsd:string, "UMLS_CUI:C0006444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2965"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_297 oboInOwl:hasDbXref "NCI:C4397"^^xsd:string, "SNOMEDCT_US_2021_03_01:17264009"^^xsd:string, "UMLS_CUI:C0344460"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma ex pleomorphic adenoma"@en, "carcinoma in pleomorphic adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic adenoma carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8850 . obo:DOID_2972 oboInOwl:hasDbXref "ICD10CM:N28.0"^^xsd:string, "MESH:D012078"^^xsd:string, "UMLS_CUI:C0035066"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2972"^^xsd:string ; a owl:Class ; rdfs:label "renal artery obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_2388 . obo:DOID_2973 obo:IAO_0000115 "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N17.1"^^xsd:string, "MESH:D007673"^^xsd:string, "SNOMEDCT_US_2021_03_01:444691002"^^xsd:string, "UMLS_CUI:C0022656"^^xsd:string ; oboInOwl:hasExactSynonym "renal cortical necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2973"^^xsd:string ; a owl:Class ; rdfs:label "kidney cortex necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080616 . obo:DOID_2974 oboInOwl:hasExactSynonym "Multicystic dysplastic kidney"@en, "Multicystic kidney"@en, "Multicystic kidney (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2974"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multicystic dysplastic kidney"^^xsd:string ; owl:deprecated true . obo:DOID_2975 oboInOwl:hasDbXref "MESH:D052177"^^xsd:string, "UMLS_CUI:C0022679"^^xsd:string ; oboInOwl:hasExactSynonym "renal Cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2975"^^xsd:string ; a owl:Class ; rdfs:label "cystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_2976 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2976"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glomerular vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_2977 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2979"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.53"^^xsd:string, "ICD10CM:R82.992"^^xsd:string, "MESH:D006959"^^xsd:string, "MESH:D006960"^^xsd:string, "NCI:C123158"^^xsd:string, "OMIM:PS259900"^^xsd:string, "ORDO:416"^^xsd:string, "SNOMEDCT_US_2021_03_01:190766003"^^xsd:string, "SNOMEDCT_US_2021_03_01:367621000119107"^^xsd:string, "UMLS_CUI:C0020500"^^xsd:string, "UMLS_CUI:C0020501"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2977"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "primary hyperoxaluria"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_2978 obo:IAO_0000115 "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9434"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002239"^^xsd:string, "UMLS_CUI:C0007001"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of carbohydrate transport and metabolism"@en, "inborn carbohydrate metabolism disorder"@en, "inborn errors of carbohydrate metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2978"^^xsd:string ; a owl:Class ; rdfs:label "carbohydrate metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_298 obo:IAO_0000115 "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4541"^^xsd:string, "SNOMEDCT_US_2021_03_01:254988008"^^xsd:string, "UMLS_CUI:C0346341"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of lacrimal gland"@en ; oboInOwl:id "DOID:298"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_293, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_2980 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone marrow tansplantation nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_2981 oboInOwl:hasDbXref "MESH:D007681"^^xsd:string, "SNOMEDCT_US_2021_03_01:90241004"^^xsd:string, "UMLS_CUI:C0022667"^^xsd:string ; oboInOwl:hasExactSynonym "Necrotizing renal papillitis"@en, "Papillary necrosis"@en, "renal PAPILLITIS NECROTIZING"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2981"^^xsd:string ; a owl:Class ; rdfs:label "kidney papillary necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_2982 oboInOwl:hasDbXref "MESH:D010501"^^xsd:string, "SNOMEDCT_US_2021_03_01:111404004"^^xsd:string, "UMLS_CUI:C0031065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2982"^^xsd:string ; a owl:Class ; rdfs:label "perinephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_2983 oboInOwl:hasDbXref "MESH:D001002"^^xsd:string, "NCI:C114699"^^xsd:string, "SNOMEDCT_US_2021_03_01:139460001"^^xsd:string, "UMLS_CUI:C0003460"^^xsd:string ; oboInOwl:hasExactSynonym "Suppression of urinary secretion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2983"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anuria"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_2985 oboInOwl:hasExactSynonym "CAN"@en, "chronic rejection of renal transplant (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2985"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic rejection of renal transplant"^^xsd:string ; owl:deprecated true . obo:DOID_2986 obo:IAO_0000115 "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004194"^^xsd:string, "GARD:863"^^xsd:string, "MESH:D005922"^^xsd:string, "NCI:C34643"^^xsd:string, "OMIM:161950"^^xsd:string, "SNOMEDCT_US_2021_03_01:236407003"^^xsd:string, "UMLS_CUI:C0017661"^^xsd:string ; oboInOwl:hasExactSynonym "Berger's IgA or IgG nephropathy"@en, "Focal Glomerulonephritis"@en, "IGA glomerulonephritis"@en, "IgA nephropathy"@en, "primary IgA nephropathy"@en, "segmental glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2986"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "IgA glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_2987 obo:IAO_0000115 "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin."^^xsd:string ; oboInOwl:hasDbXref "GARD:6421"^^xsd:string, "ICD10CM:M04.1"^^xsd:string, "ICD9CM:277.31"^^xsd:string, "MESH:D010505"^^xsd:string, "NCI:C84707"^^xsd:string, "OMIM:134610"^^xsd:string, "OMIM:249100"^^xsd:string, "ORDO:342"^^xsd:string, "SNOMEDCT_US_2021_03_01:12579009"^^xsd:string, "UMLS_CUI:C0031069"^^xsd:string ; oboInOwl:hasExactSynonym "benign paroxysmal peritonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2987"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "familial Mediterranean fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_2988 obo:IAO_0000115 "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)."^^xsd:string ; oboInOwl:hasDbXref "GARD:5824"^^xsd:string, "ICD10CM:D68.61"^^xsd:string, "MESH:D016736"^^xsd:string, "NCI:C61283"^^xsd:string, "OMIM:107320"^^xsd:string, "SNOMEDCT_US_2021_03_01:201450008"^^xsd:string, "UMLS_CUI:C0085278"^^xsd:string ; oboInOwl:hasExactSynonym "Antiphospholipid syndrome"@en, "antiphospholipid antibody syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2988"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "antiphospholipid syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ; skos:exactMatch "MESH:D016736"^^xsd:string . obo:DOID_2989 oboInOwl:hasExactSynonym "Prostatic Atypical small acinar Proliferation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2989"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Atypical small acinar proliferation of the prostate gland"^^xsd:string ; owl:deprecated true . obo:DOID_299 obo:IAO_0000115 "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000230"^^xsd:string, "NCI:C2852"^^xsd:string, "SNOMEDCT_US_2021_03_01:443961001"^^xsd:string, "UMLS_CUI:C0001418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:299"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] ) ] ; skos:exactMatch "MESH:D000230"^^xsd:string . obo:DOID_2990 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2990"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tumor of specialized prostatic stroma"^^xsd:string ; owl:deprecated true . obo:DOID_2991 oboInOwl:hasExactSynonym "Stromal tumor (morphologic abnormality)"@en, "stromal tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2991"^^xsd:string ; a owl:Class ; rdfs:label "obsolete stromal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2992 oboInOwl:hasDbXref "NCI:C5545"^^xsd:string, "UMLS_CUI:C1335515"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine tumor of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2992"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_169 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_169 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] ) ] . obo:DOID_2994 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2157"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009373"^^xsd:string, "NCI:C3708"^^xsd:string, "SNOMEDCT_US_2021_03_01:302853003"^^xsd:string, "UMLS_CUI:C0205851"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of the germ cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "germ cell neoplasm"@en, "germ cell tumour"@en ; oboInOwl:id "DOID:2994"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] ) ] . obo:DOID_2995 oboInOwl:hasExactSynonym "Ovarian mixed germ cell-Sex Cord tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2995"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian mixed germ cell-sex cord neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_2996 oboInOwl:hasDbXref "NCI:C5241"^^xsd:string, "SNOMEDCT_US_2021_03_01:703601005"^^xsd:string, "UMLS_CUI:C1321220"^^xsd:string ; oboInOwl:hasExactSynonym "mixed germ cell-Sex Cord tumor"@en, "mixed germ cell-sex cord-stromal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed germ cell-sex cord neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_154 . obo:DOID_2997 obo:IAO_0000115 "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050618"^^xsd:string ; oboInOwl:hasDbXref "GARD:9967"^^xsd:string, "MESH:D018310"^^xsd:string, "SNOMEDCT_US_2021_03_01:34110004"^^xsd:string, "UMLS_CUI:C0206723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2997"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "Sertoli-Leydig cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_192 . obo:DOID_2998 obo:IAO_0000115 "A male reproductive system cancer that is located_in the testicles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12231"^^xsd:string, "DOID:5554"^^xsd:string ; oboInOwl:hasDbXref "GARD:7746"^^xsd:string, "ICD10CM:C62"^^xsd:string, "ICD9CM:186"^^xsd:string, "MESH:D013736"^^xsd:string, "NCI:C3404"^^xsd:string, "NCI:C5053"^^xsd:string, "NCI:C7251"^^xsd:string, "SNOMEDCT_US_2021_03_01:126900000"^^xsd:string, "SNOMEDCT_US_2021_03_01:94087009"^^xsd:string, "UMLS_CUI:C0039590"^^xsd:string, "UMLS_CUI:C0153594"^^xsd:string, "UMLS_CUI:C1333010"^^xsd:string ; oboInOwl:hasExactSynonym "childhood neoplasm of the testis"@en, "neoplasm of testis"@en, "pediatric testicular neoplasm"@en, "testicular tumor"@en, "testis cancer"@en, "testis neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "testicular cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2519, obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] ) ] . obo:DOID_2999 obo:IAO_0000115 "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5333"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006106"^^xsd:string, "NCI:C3070"^^xsd:string, "NCI:C4205"^^xsd:string, "SNOMEDCT_US_2021_03_01:18861007"^^xsd:string, "SNOMEDCT_US_2021_03_01:46585005"^^xsd:string, "UMLS_CUI:C0018206"^^xsd:string, "UMLS_CUI:C0334401"^^xsd:string ; oboInOwl:hasExactSynonym "Granulosa cell neoplasm"@en, "Granulosa cell tumor, adult type"@en, "Granulosa cell tumour, sarcomatoid"@en, "malignant granulosa cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:2999"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulosa cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_192 . obo:DOID_3 obo:IAO_0000115 "A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2711"^^xsd:string ; oboInOwl:hasExactSynonym "environmentally induced disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disease by environmental exposure"^^xsd:string ; owl:deprecated true . obo:DOID_3001 obo:IAO_0000115 "A female reproductive organ cancer that is characterized by a resemblance to endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7113"^^xsd:string, "SNOMEDCT_US_2021_03_01:253013001"^^xsd:string, "UMLS_CUI:C0474809"^^xsd:string ; oboInOwl:hasExactSynonym "endometrioid neoplasm"@en, "endometrioid tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "female reproductive endometrioid neoplasm"@en ; oboInOwl:id "DOID:3001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "female reproductive endometrioid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120 . obo:DOID_3002 obo:IAO_0000115 "An ovarian cancer that has_material_basis in nuroendocrine cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5237"^^xsd:string, "UMLS_CUI:C1335172"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_169, obo:DOID_2394 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_169 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_3003 obo:IAO_0000115 "A breast benign neoplasm that is located_in the nipple."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5212"^^xsd:string, "UMLS_CUI:C1112166"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Nipple"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nipple benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_3004 obo:IAO_0000115 "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40389"^^xsd:string, "UMLS_CUI:C1511319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3004"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast myoepithelial neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_3007 obo:IAO_0000115 "A breast carcinoma that derives_from the lining of milk ducts."^^xsd:string ; oboInOwl:hasDbXref "MESH:D044584"^^xsd:string, "SNOMEDCT_US_2021_03_01:82711006"^^xsd:string, "UMLS_CUI:C1176475"^^xsd:string ; oboInOwl:hasExactSynonym "duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3007"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "breast ductal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_3008 obo:IAO_0000115 "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3005"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018270"^^xsd:string, "NCI:C4017"^^xsd:string, "NCI:C4194"^^xsd:string, "SNOMEDCT_US_2021_03_01:408643008"^^xsd:string, "UMLS_CUI:C1134719"^^xsd:string, "UMLS_CUI:C1527349"^^xsd:string ; oboInOwl:hasExactSynonym "Infiltrating ductal carcinoma of breast"@en, "Invasive ductal carcinoma, NST"@en, "ductal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3008"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "invasive ductal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3007 . obo:DOID_3009 obo:IAO_0000115 "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5169"^^xsd:string, "UMLS_CUI:C1332635"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine tumor of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3009"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_3010 obo:IAO_0000115 "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27939"^^xsd:string, "UMLS_CUI:C0861352"^^xsd:string ; oboInOwl:hasExactSynonym "Lobular Intraepithelial Neoplasia"@en, "lobular carcinoma in situ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3010"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lobular neoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_8791 . obo:DOID_3011 obo:IAO_0000115 "A breast cancer that is believed to arises_from Schwann cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40400"^^xsd:string, "UMLS_CUI:C1511312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3011"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_3012 obo:IAO_0000115 "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata."^^xsd:string ; oboInOwl:hasDbXref "GARD:6902"^^xsd:string, "MESH:D016864"^^xsd:string, "NCI:C3476"^^xsd:string, "OMIM:PS151623"^^xsd:string, "ORDO:524"^^xsd:string, "SNOMEDCT_US_2021_03_01:428850001"^^xsd:string, "UMLS_CUI:C0085390"^^xsd:string ; oboInOwl:hasExactSynonym "Li-Fraumeni Familiar cancer Susceptibility syndrome"@en, "SBLA syndrome"@en, "sarcoma, breast, leukaemia and adrenal gland syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3012"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Li-Fraumeni syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3013 obo:IAO_0000115 "A breast benign neoplasm that is located_in the breast ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36083"^^xsd:string, "UMLS_CUI:C0948967"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraductal breast benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_3015 oboInOwl:hasExactSynonym "Papillary tumor of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast papillary neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3016 obo:IAO_0000115 "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1632"^^xsd:string, "DOID:3018"^^xsd:string ; oboInOwl:hasDbXref "MESH:D003557"^^xsd:string, "NCI:C4275"^^xsd:string, "NCI:C4504"^^xsd:string, "NCI:C7575"^^xsd:string, "SNOMEDCT_US_2021_03_01:254844000"^^xsd:string, "SNOMEDCT_US_2021_03_01:712989008"^^xsd:string, "SNOMEDCT_US_2021_03_01:87913009"^^xsd:string, "UMLS_CUI:C0238031"^^xsd:string, "UMLS_CUI:C0346154"^^xsd:string, "UMLS_CUI:C0600066"^^xsd:string ; oboInOwl:hasExactSynonym "Phyllodes breast neoplasm"@en, "Phyllodes tumor, malignant"@en, "breast malignant phyllodes tumour"@en, "malignant Mammary Phyllodes tumor"@en, "malignant Mammary Phyllodes tumour"@en, "malignant Phyllodes neoplasm"@en, "malignant cystosarcoma phyllodes"@en, "malignant phyllodes tumor"@en, "malignant phyllodes tumor of breast"@en, "malignant phyllodes tumour"@en, "malignant phyllodes tumour of breast"@en, "phyllodes breast tumor"@en, "phyllodes breast tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast malignant phyllodes tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_3017 obo:IAO_0000115 "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4670"^^xsd:string, "SNOMEDCT_US_2021_03_01:278050001"^^xsd:string, "UMLS_CUI:C0349667"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3017"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_3019 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postpartum acute renal failure"^^xsd:string ; owl:deprecated true . obo:DOID_302 obo:IAO_0000115 "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019966"^^xsd:string, "NCI:C16522"^^xsd:string, "SNOMEDCT_US_2021_03_01:26416006"^^xsd:string, "UMLS_CUI:C0013146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "substance abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_303 . obo:DOID_3020 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Complication of labor and/or delivery"^^xsd:string ; owl:deprecated true . obo:DOID_3021 oboInOwl:hasDbXref "MESH:D058186"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3021"^^xsd:string ; a owl:Class ; rdfs:label "acute kidney failure"^^xsd:string ; rdfs:subClassOf obo:DOID_1074 . obo:DOID_3022 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complication of the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_3024 oboInOwl:hasDbXref "NCI:C5596"^^xsd:string, "UMLS_CUI:C1332139"^^xsd:string ; oboInOwl:hasExactSynonym "Prostatic acinar adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostatic acinar adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2526 . obo:DOID_3025 obo:IAO_0000115 "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:8568"^^xsd:string, "MESH:D018267"^^xsd:string, "NCI:C3768"^^xsd:string, "SNOMEDCT_US_2021_03_01:45410002"^^xsd:string, "UMLS_CUI:C0206685"^^xsd:string ; oboInOwl:hasExactSynonym "acinic cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3025"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acinar cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000622 ] . obo:DOID_3026 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3026"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic prostatic adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3027 oboInOwl:hasExactSynonym "adenocarcinoma, metastatic (morphologic abnormality)"@en, "adenocarcinoma, metastatic, NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3028 oboInOwl:hasExactSynonym "Colonic adenoma with Intramucosal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of colon with intramucosal adenocarcinoma"@en ; oboInOwl:id "DOID:3028"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intramucosal adenocarcinoma colon adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_3029 oboInOwl:hasDbXref "NCI:C7966"^^xsd:string, "UMLS_CUI:C0279639"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic mucinous adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3029"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_234, obo:DOID_3030, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_303 obo:IAO_0000115 "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019966"^^xsd:string, "NCI:C92203"^^xsd:string, "UMLS_CUI:C0236969"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:303"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "substance-related disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_3030 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4532"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002288"^^xsd:string, "NCI:C26712"^^xsd:string, "NCI:C27379"^^xsd:string, "SNOMEDCT_US_2021_03_01:72495009"^^xsd:string, "SNOMEDCT_US_2021_03_01:900006"^^xsd:string, "UMLS_CUI:C0007130"^^xsd:string, "UMLS_CUI:C0334368"^^xsd:string ; oboInOwl:hasExactSynonym "Mucin-Secreting adenocarcinoma"@en, "Mucin-Secreting carcinoma"@en, "Mucin-producing adenocarcinoma"@en, "Mucous carcinoma"@en, "Pseudomyxoma peritonei with unknown primary site"@en, "mucin-producing adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3030"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] ) ] . obo:DOID_3033 oboInOwl:hasExactSynonym "Colonic Signet Ring adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3033"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "colon signet ring adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_234 . obo:DOID_3038 oboInOwl:hasDbXref "NCI:C38760"^^xsd:string, "UMLS_CUI:C1515024"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3038"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "submucosal invasive colon adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_234 . obo:DOID_3039 obo:IAO_0000115 "A cecum carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5543"^^xsd:string, "SNOMEDCT_US_2021_03_01:413446001"^^xsd:string, "UMLS_CUI:C1332866"^^xsd:string ; oboInOwl:hasExactSynonym "Cecal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3039"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cecum adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1519, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3042 obo:IAO_0000115 "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L23"^^xsd:string, "MESH:D017449"^^xsd:string, "NCI:C26998"^^xsd:string, "SNOMEDCT_US_2021_03_01:200841005"^^xsd:string, "UMLS_CUI:C0162820"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_2773, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001003 ] . obo:DOID_3044 obo:IAO_0000115 "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005512"^^xsd:string, "NCI:C172304"^^xsd:string, "SNOMEDCT_US_2021_03_01:213018006"^^xsd:string, "UMLS_CUI:C0016470"^^xsd:string ; oboInOwl:hasExactSynonym "food hypersensitivity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3044"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "food allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060502 . obo:DOID_3047 obo:IAO_0000115 "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014924"^^xsd:string, "SNOMEDCT_US_2021_03_01:68190001"^^xsd:string, "UMLS_CUI:C0043195"^^xsd:string ; oboInOwl:hasExactSynonym "Wissler's subsepsis allergica"@en, "Wissler's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3047"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Wissler-Fanconi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_3049 obo:IAO_0000115 "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M30.1"^^xsd:string, "MESH:D015267"^^xsd:string, "NCI:C34481"^^xsd:string, "SNOMEDCT_US_2021_03_01:82275008"^^xsd:string, "UMLS_CUI:C0008728"^^xsd:string ; oboInOwl:hasExactSynonym "Allergic Granulomatous Angiitis"@en, "Allergic granulomatosis angiitis"@en, "Churg-Strauss vasculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Churg-Strauss syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000867 ] . obo:DOID_305 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2428"^^xsd:string, "DOID:6570"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002277"^^xsd:string, "MESH:D009375"^^xsd:string, "NCI:C2916"^^xsd:string, "NCI:C3709"^^xsd:string, "SNOMEDCT_US_2021_03_01:188083002"^^xsd:string, "SNOMEDCT_US_2021_03_01:269513004"^^xsd:string, "SNOMEDCT_US_2021_03_01:71298006"^^xsd:string, "UMLS_CUI:C0007097"^^xsd:string, "UMLS_CUI:C0553707"^^xsd:string, "UMLS_CUI:C1368683"^^xsd:string ; oboInOwl:hasExactSynonym "epithelial cancer"@en, "epithelioma"@en, "malignant Epithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:305"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_3052 obo:IAO_0000115 "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N15.0"^^xsd:string, "MESH:D001449"^^xsd:string, "OMIM:124100"^^xsd:string, "SNOMEDCT_US_2021_03_01:197748005"^^xsd:string, "UMLS_CUI:C0004698"^^xsd:string ; oboInOwl:hasExactSynonym "Balkan endemic nephropathy"@en, "DEFN"@en, "Danubian endemic familial nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3052"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Balkan nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1063 . obo:DOID_3055 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13324"^^xsd:string, "DOID:13325"^^xsd:string, "DOID:3053"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A01.1"^^xsd:string, "ICD10CM:A01.2"^^xsd:string, "ICD10CM:A01.3"^^xsd:string, "ICD10CM:A01.4"^^xsd:string, "ICD9CM:002.1"^^xsd:string, "ICD9CM:002.2"^^xsd:string, "ICD9CM:002.3"^^xsd:string, "ICD9CM:002.9"^^xsd:string, "MESH:D010284"^^xsd:string, "NCI:C34894"^^xsd:string, "NCI:C34895"^^xsd:string, "NCI:C34896"^^xsd:string, "NCI:C34897"^^xsd:string, "SNOMEDCT_US_2021_03_01:51254007"^^xsd:string, "SNOMEDCT_US_2021_03_01:71085009"^^xsd:string, "SNOMEDCT_US_2021_03_01:76623002"^^xsd:string, "SNOMEDCT_US_2021_03_01:85904008"^^xsd:string, "UMLS_CUI:C0030528"^^xsd:string, "UMLS_CUI:C0343375"^^xsd:string, "UMLS_CUI:C0343376"^^xsd:string, "UMLS_CUI:C0343377"^^xsd:string ; oboInOwl:hasExactSynonym "Paratyphoid"@en, "Paratyphoid A fever"@en, "Paratyphoid B fever"@en, "Paratyphoid C fever"@en, "Paratyphoid Fever A"@en, "Paratyphoid Fever B"@en, "Paratyphoid Fever C"@en, "Paratyphoid fever A"@en, "Paratyphoid fever B"@en, "Paratyphoid fever C"@en, "paratyphoid a"@en, "paratyphoid b"@en, "paratyphoid c"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3055"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "paratyphoid fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000231 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_3056 obo:IAO_0000115 "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3056"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Paramyxoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_306 oboInOwl:hasExactSynonym "Dyskinesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:306"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dyskinetic syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_3067 oboInOwl:hasExactSynonym "disorder of taste (disorder)"@en, "taste disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3067"^^xsd:string ; a owl:Class ; rdfs:label "obsolete taste disorder"^^xsd:string ; owl:deprecated true . obo:DOID_3068 obo:IAO_0000115 "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3075"^^xsd:string, "DOID:3080"^^xsd:string ; oboInOwl:hasDbXref "GARD:2491"^^xsd:string, "MESH:D005909"^^xsd:string, "NCI:C3058"^^xsd:string, "NCI:C39750"^^xsd:string, "NCI:C9094"^^xsd:string, "SNOMEDCT_US_2021_03_01:63634009"^^xsd:string, "UMLS_CUI:C0017636"^^xsd:string, "UMLS_CUI:C0278878"^^xsd:string, "UMLS_CUI:C1514422"^^xsd:string ; oboInOwl:hasExactSynonym "GBM"@en, "adult glioblastoma multiforme"@en, "glioblastoma multiforme"^^xsd:string, "grade IV adult Astrocytic tumor"@en, "primary glioblastoma multiforme"@en, "spongioblastoma multiforme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3068"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "glioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_3069 obo:IAO_0000115 "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4861"^^xsd:string ; oboInOwl:hasDbXref "ICDO:M9400/3"^^xsd:string, "MESH:D001254"^^xsd:string, "NCI:C4951"^^xsd:string, "NCI:C60781"^^xsd:string, "SNOMEDCT_US_2021_03_01:189914005"^^xsd:string, "SNOMEDCT_US_2021_03_01:99131000119108"^^xsd:string, "UMLS_CUI:C0004114"^^xsd:string, "UMLS_CUI:C0750935"^^xsd:string ; oboInOwl:hasExactSynonym "Astrocytic tumor"@en, "astrocytoma of Cerebrum"@en, "astrocytoma of brain"@en, "astroglioma"@en, "cerebral astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3069"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ; skos:exactMatch "MESH:D001254"^^xsd:string . obo:DOID_3070 obo:IAO_0000115 "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2627"^^xsd:string ; oboInOwl:hasDbXref "ICDO:M9380/3"^^xsd:string, "KEGG:05214"^^xsd:string, "MESH:D005910"^^xsd:string, "NCI:C3059"^^xsd:string, "NCI:C4822"^^xsd:string, "OMIM:PS137800"^^xsd:string, "ORDO:182067"^^xsd:string, "SNOMEDCT_US_2021_03_01:393564001"^^xsd:string, "SNOMEDCT_US_2021_03_01:74532006"^^xsd:string, "UMLS_CUI:C0017638"^^xsd:string, "UMLS_CUI:C0555198"^^xsd:string ; oboInOwl:hasExactSynonym "Neuroglial tumor"@en, "glial cell tumor"@en, "glioma, malignant"@en, "malignant Neuroglial tumor"@en, "malignant glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3070"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "high grade glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687, obo:DOID_0060564, obo:DOID_1319, obo:DOID_184, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] ) ] . obo:DOID_3071 obo:IAO_0000115 "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation."^^xsd:string ; oboInOwl:hasDbXref "GARD:5653"^^xsd:string, "MESH:D018316"^^xsd:string, "NCI:C3796"^^xsd:string, "SNOMEDCT_US_2021_03_01:35262004"^^xsd:string, "UMLS_CUI:C0206726"^^xsd:string ; oboInOwl:hasExactSynonym "Glioblastoma with sarcomatous component"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3071"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gliosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_3072 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3072"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary glioblastoma multiforme"^^xsd:string ; owl:deprecated true . obo:DOID_3073 obo:IAO_0000115 "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4642"^^xsd:string, "SNOMEDCT_US_2021_03_01:276828006"^^xsd:string, "UMLS_CUI:C0349543"^^xsd:string ; oboInOwl:hasExactSynonym "Glioblastoma multiforme of brain"@en, "brain Glioblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3073"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain glioblastoma multiforme"^^xsd:string ; rdfs:subClassOf obo:DOID_0060108, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_3074 obo:IAO_0000115 "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005909"^^xsd:string, "NCI:C4325"^^xsd:string, "SNOMEDCT_US_2021_03_01:44529004"^^xsd:string, "UMLS_CUI:C0334588"^^xsd:string ; oboInOwl:hasExactSynonym "Monstrocellular sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "giant cell glioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_3076 oboInOwl:hasDbXref "NCI:C7049"^^xsd:string, "UMLS_CUI:C1332183"^^xsd:string ; oboInOwl:hasExactSynonym "adult astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult astrocytic tumour"^^xsd:string ; rdfs:subClassOf obo:DOID_3069, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3077 oboInOwl:hasExactSynonym "Undifferentiated pediatric astrocytoma"@en, "pediatric Glioblastoma Multiforme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic childhood astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_3078 obo:IAO_0000115 "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei."^^xsd:string ; oboInOwl:hasDbXref "GARD:5860"^^xsd:string, "MESH:D001254"^^xsd:string, "NCI:C9477"^^xsd:string, "SNOMEDCT_US_2021_03_01:55353007"^^xsd:string, "UMLS_CUI:C0334579"^^xsd:string ; oboInOwl:hasExactSynonym "grade III Astrocytic tumor"@en, "grade III astrocytoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3078"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "anaplastic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_3079 oboInOwl:hasDbXref "NCI:C9022"^^xsd:string, "SNOMEDCT_US_2021_03_01:128854008"^^xsd:string, "UMLS_CUI:C1321865"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile astrocytoma"@en, "pediatric astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3079"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood astrocytic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3069, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_308 oboInOwl:hasDbXref "MESH:D004831"^^xsd:string, "UMLS_CUI:C0014550"^^xsd:string ; oboInOwl:hasExactSynonym "Epileptic seizures - myoclonic"@en, "Epileptic seizures, myoclonic"@en, "Myoclonic seizure"@en, "Myoclonic seizure disorder"@en, "myoclonia epileptica"@en, "myoclonic epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:308"^^xsd:string ; a owl:Class ; rdfs:label "early myoclonic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050702 . obo:DOID_3081 oboInOwl:hasDbXref "GARD:6234"^^xsd:string, "MESH:D018191"^^xsd:string, "NCI:C3724"^^xsd:string, "OMIM:257350"^^xsd:string, "SNOMEDCT_US_2021_03_01:40225001"^^xsd:string, "UMLS_CUI:C0206620"^^xsd:string ; oboInOwl:hasExactSynonym "cystic Hygroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystic lymphangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1475 . obo:DOID_3082 obo:IAO_0000115 "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough."^^xsd:string ; oboInOwl:hasDbXref "GARD:13336"^^xsd:string, "ICD10CM:J84.9"^^xsd:string, "MESH:D017563"^^xsd:string, "NCI:C164315"^^xsd:string, "SNOMEDCT_US_2021_03_01:64667001"^^xsd:string, "UMLS_CUI:C0206062"^^xsd:string ; oboInOwl:hasExactSynonym "ILD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3082"^^xsd:string ; a owl:Class ; rdfs:label "interstitial lung disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000114 ] ) ] . obo:DOID_3083 obo:IAO_0000115 "An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11500"^^xsd:string, "DOID:6144"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000341"^^xsd:string, "ICD10CM:J44.9"^^xsd:string, "MESH:D029424"^^xsd:string, "NCI:C3199"^^xsd:string, "OMIM:606963"^^xsd:string, "SNOMEDCT_US_2021_03_01:13645005"^^xsd:string, "UMLS_CUI:C0024117"^^xsd:string ; oboInOwl:hasExactSynonym "COLD"@en, "COPD"@en, "chronic obstructive airway disease"@en, "chronic obstructive lung disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3083"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic obstructive pulmonary disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2320 . obo:DOID_3086 oboInOwl:hasDbXref "ICD10CM:K06.1"^^xsd:string, "MESH:D019214"^^xsd:string, "SNOMEDCT_US_2021_03_01:54711002"^^xsd:string, "UMLS_CUI:C0376480"^^xsd:string ; oboInOwl:hasExactSynonym "Gingival enlargement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3086"^^xsd:string ; a owl:Class ; rdfs:label "gingival overgrowth"^^xsd:string ; rdfs:subClassOf obo:DOID_1483 . obo:DOID_3087 oboInOwl:hasAlternativeId "DOID:10422"^^xsd:string, "DOID:10424"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K05.0"^^xsd:string, "ICD10CM:K05.1"^^xsd:string, "ICD10CM:K05.10"^^xsd:string, "ICD9CM:523.0"^^xsd:string, "ICD9CM:523.1"^^xsd:string, "MESH:D005891"^^xsd:string, "NCI:C34474"^^xsd:string, "NCI:C34636"^^xsd:string, "SNOMEDCT_US_2021_03_01:155643004"^^xsd:string, "SNOMEDCT_US_2021_03_01:196355002"^^xsd:string, "SNOMEDCT_US_2021_03_01:266490003"^^xsd:string, "UMLS_CUI:C0008684"^^xsd:string, "UMLS_CUI:C0017574"^^xsd:string, "UMLS_CUI:C0155937"^^xsd:string ; oboInOwl:hasExactSynonym "acute gingivitis"@en, "chronic gingivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3087"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gingivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1483 . obo:DOID_3089 oboInOwl:hasDbXref "NCI:C27162"^^xsd:string, "SNOMEDCT_US_2021_03_01:50390006"^^xsd:string, "UMLS_CUI:C0436545"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Specific Granulomatous Orchitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3089"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous orchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_3090 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3090"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular non-neoplastic disease"^^xsd:string ; owl:deprecated true . obo:DOID_3091 obo:IAO_0000115 "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3091"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Acinetobacter infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050340, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_3092 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3092"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Moraxellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3093 obo:IAO_0000115 "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1193"^^xsd:string, "DOID:3195"^^xsd:string, "DOID:4695"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:192.9"^^xsd:string, "MESH:D009380"^^xsd:string, "NCI:C35562"^^xsd:string, "SNOMEDCT_US_2021_03_01:188306000"^^xsd:string, "UMLS_CUI:C0027665"^^xsd:string, "UMLS_CUI:C0153643"^^xsd:string, "UMLS_CUI:C1334956"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of nervous system"@en, "neoplasm of nervous system"@en, "nervous system neoplasm"@en, "neural neoplasm"@en, "neural tumor"@en, "tumor of the nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3093"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nervous system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ) ] . obo:DOID_3094 oboInOwl:hasExactSynonym "tumor of Neuroepithelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3094"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuroepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3095 obo:IAO_0000115 "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009373"^^xsd:string, "UMLS_CUI:C0027658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "germ cell and embryonal neoplasm"@en ; oboInOwl:id "DOID:3095"^^xsd:string ; a owl:Class ; rdfs:label "germ cell and embryonal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_2994, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_3096 oboInOwl:hasDbXref "ICD10CM:H04.57"^^xsd:string, "ICD9CM:375.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:11772001"^^xsd:string, "UMLS_CUI:C0155246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3096"^^xsd:string ; a owl:Class ; rdfs:label "stenosis of lacrimal sac"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_3097 oboInOwl:hasExactSynonym "Stenosis and insufficiency of lacrimal passages (disorder)"@en, "Stenosis and insufficiency of lacrimal passages NOS (disorder)"@en, "Stenosis of lacrimal passages"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3097"^^xsd:string ; a owl:Class ; rdfs:label "obsolete stenosis and insufficiency of lacrimal passage"^^xsd:string ; owl:deprecated true . obo:DOID_3098 oboInOwl:hasDbXref "MESH:D018228"^^xsd:string, "NCI:C3746"^^xsd:string, "SNOMEDCT_US_2021_03_01:73506006"^^xsd:string, "UMLS_CUI:C0206652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_310 oboInOwl:hasDbXref "ICD10CM:E88.42"^^xsd:string, "MESH:D017243"^^xsd:string, "NCI:C84889"^^xsd:string, "OMIM:545000"^^xsd:string, "SNOMEDCT_US_2021_03_01:68448003"^^xsd:string, "UMLS_CUI:C0162672"^^xsd:string ; oboInOwl:hasExactSynonym "Fukuhara syndrome"@en, "Myoclonic epilepsy - ragged red fibers"@en, "Myoclonus epilepsy AND ragged red fibers"@en, "Myoclonus with epilepsy and with Ragged Red Fibers"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "MERRF syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_890 . obo:DOID_3100 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3100"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Ureaplasma urealyticum urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_3101 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3101"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycoplasmatales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3102 oboInOwl:hasExactSynonym "Arterial thoracic outlet syndrome due to cervical rib"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical rib syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_3103 obo:IAO_0000115 "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles."^^xsd:string ; oboInOwl:hasDbXref "GARD:7759"^^xsd:string, "ICD10CM:G54.0"^^xsd:string, "MESH:D013901"^^xsd:string, "NCI:C85188"^^xsd:string, "SNOMEDCT_US_2021_03_01:2040007"^^xsd:string, "UMLS_CUI:C0039984"^^xsd:string ; oboInOwl:hasExactSynonym "TOS - Thoracic outlet syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3103"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thoracic outlet syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_3106 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4190"^^xsd:string ; oboInOwl:hasExactSynonym "Nematode infection"@en, "Roundworm"@en, "Roundworm infection"@en, "creeping eruption"@en, "larva migrans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Nematoda infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3107 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017227"^^xsd:string, "UMLS_CUI:C0040522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3107"^^xsd:string ; a owl:Class ; rdfs:label "toxascariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_3108 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001198"^^xsd:string, "SNOMEDCT_US_2021_03_01:2435008"^^xsd:string, "UMLS_CUI:C0003952"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3108"^^xsd:string ; a owl:Class ; rdfs:label "ascaridiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_3109 obo:IAO_0000115 "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018344"^^xsd:string, "NCI:C84780"^^xsd:string, "UMLS_CUI:C0206744"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3109"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "idiopathic CD4-positive T-lymphocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_614, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000086 ] . obo:DOID_3110 obo:IAO_0000115 "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections."^^xsd:string ; oboInOwl:hasDbXref "GARD:10162"^^xsd:string, "MESH:D018283"^^xsd:string, "NCI:C3777"^^xsd:string, "SNOMEDCT_US_2021_03_01:2735009"^^xsd:string, "UMLS_CUI:C0206700"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary cystadenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3111 . obo:DOID_3111 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003536"^^xsd:string, "NCI:C2971"^^xsd:string, "SNOMEDCT_US_2021_03_01:21008007"^^xsd:string, "UMLS_CUI:C0010631"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3111"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_60004 . obo:DOID_3112 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5596"^^xsd:string ; oboInOwl:hasDbXref "MESH:D000231"^^xsd:string, "NCI:C2853"^^xsd:string, "SNOMEDCT_US_2021_03_01:4797003"^^xsd:string, "UMLS_CUI:C0001420"^^xsd:string ; oboInOwl:hasExactSynonym "Infiltrating and papillary adenocarcinoma"@en, "Papillary adenocarcinoma"@en, "infiltrating papillary adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3112"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_3113 obo:IAO_0000115 "A carcinoma that is derives_from epithelial cells with finger like projections."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002291"^^xsd:string, "NCI:C2927"^^xsd:string, "SNOMEDCT_US_2021_03_01:25910003"^^xsd:string, "UMLS_CUI:C0007133"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3113"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_3114 obo:IAO_0000115 "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018284"^^xsd:string, "NCI:C3778"^^xsd:string, "SNOMEDCT_US_2021_03_01:90725004"^^xsd:string, "UMLS_CUI:C0206701"^^xsd:string ; oboInOwl:hasExactSynonym "serous adenocarcinoma"@en, "serous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3114"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "serous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3111 . obo:DOID_3115 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "transitional cell neoplasm of the urinary tract"@en ; oboInOwl:id "DOID:3115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete urinary tract transitional cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_3116 oboInOwl:hasDbXref "NCI:C7514"^^xsd:string, "UMLS_CUI:C1334323"^^xsd:string ; oboInOwl:hasExactSynonym "renal and ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3116"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_557, obo:DOID_731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_3117 obo:IAO_0000115 "A gastrointestinal system benign neoplasm located_in the hepatobiliary system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8614"^^xsd:string, "UMLS_CUI:C0854196"^^xsd:string ; oboInOwl:hasExactSynonym "hepatobiliary tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatobiliary benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002423 ] ) ] . obo:DOID_3118 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the liver and/or biliary tract."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004066"^^xsd:string, "NCI:C3959"^^xsd:string, "UMLS_CUI:C0267792"^^xsd:string ; oboInOwl:hasExactSynonym "liver and biliary tract disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatobiliary disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 . obo:DOID_3119 obo:IAO_0000115 "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4945"^^xsd:string, "DOID:8377"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C26.9"^^xsd:string, "ICD9CM:239.0"^^xsd:string, "MESH:D004067"^^xsd:string, "MESH:D005770"^^xsd:string, "NCI:C3052"^^xsd:string, "NCI:C4890"^^xsd:string, "SNOMEDCT_US_2021_03_01:128348002"^^xsd:string, "SNOMEDCT_US_2021_03_01:276806006"^^xsd:string, "SNOMEDCT_US_2021_03_01:428905002"^^xsd:string, "UMLS_CUI:C0012243"^^xsd:string, "UMLS_CUI:C0017185"^^xsd:string, "UMLS_CUI:C0685938"^^xsd:string ; oboInOwl:hasExactSynonym "GI tumor"@en, "digestive system cancer"@en, "gastrointestinal tract cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3119"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "gastrointestinal system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_312 oboInOwl:hasDbXref "ICD9CM:727.06"^^xsd:string, "UMLS_CUI:C0158331"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:312"^^xsd:string ; a owl:Class ; rdfs:label "tenosynovitis of foot and ankle"^^xsd:string ; rdfs:subClassOf obo:DOID_970, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_3120 oboInOwl:hasDbXref "NCI:C7130"^^xsd:string, "UMLS_CUI:C1333754"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3120"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_3121 obo:IAO_0000115 "A biliary tract cancer that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8090"^^xsd:string, "DOID:8157"^^xsd:string ; oboInOwl:hasDbXref "GARD:9328"^^xsd:string, "ICD10CM:C23"^^xsd:string, "ICD9CM:156.0"^^xsd:string, "MESH:D005706"^^xsd:string, "NCI:C3048"^^xsd:string, "NCI:C35676"^^xsd:string, "NCI:C7481"^^xsd:string, "SNOMEDCT_US_2021_03_01:126854002"^^xsd:string, "SNOMEDCT_US_2021_03_01:93810008"^^xsd:string, "UMLS_CUI:C0016978"^^xsd:string, "UMLS_CUI:C0153452"^^xsd:string, "UMLS_CUI:C0278806"^^xsd:string ; oboInOwl:hasExactSynonym "gallbladder Ca"@en, "gallbladder neoplasm"@en, "localized malignant gallbladder neoplasm"@en, "malignant neoplasm of gallbladder"@en, "malignant tumor of the gallbladder"@en, "malignant tumour of gallbladder"@en, "tumor of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3121"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "gallbladder cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262, obo:DOID_4607 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_3122 oboInOwl:hasDbXref "MESH:D017219"^^xsd:string, "SNOMEDCT_US_2021_03_01:196759006"^^xsd:string, "UMLS_CUI:C0162651"^^xsd:string ; oboInOwl:hasExactSynonym "gastric outflow obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3122"^^xsd:string ; a owl:Class ; rdfs:label "gastric outlet obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_3125 obo:IAO_0000115 "A syndrome that is characterized by tumors in at least two endocrine glands."^^xsd:string ; oboInOwl:hasExactSynonym "Multiple endocrine adenomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3125"^^xsd:string ; a owl:Class ; rdfs:label "multiple endocrine neoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_3127 obo:IAO_0000115 "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K62.89"^^xsd:string, "MESH:D011349"^^xsd:string, "NCI:C38011"^^xsd:string, "SNOMEDCT_US_2021_03_01:266534007"^^xsd:string, "UMLS_CUI:C0033246"^^xsd:string ; oboInOwl:hasNarrowSynonym "ulcerative proctitis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proctitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1285, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_3128 oboInOwl:hasAlternativeId "DOID:11479"^^xsd:string, "DOID:11993"^^xsd:string ; oboInOwl:hasDbXref "MESH:D001004"^^xsd:string, "NCI:C26695"^^xsd:string, "SNOMEDCT_US_2021_03_01:32110003"^^xsd:string, "UMLS_CUI:C0003462"^^xsd:string ; oboInOwl:hasExactSynonym "Nontraumatic tear of anus"@en, "Solitary anal ulcer"@en, "Ulcer of anus"@en, "anal disease"@en, "anal fissure"@en, "anal fissure and fistula"@en, "anal ulcer"@en, "fissure in ano"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1285 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] ) ] . obo:DOID_313 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:313"^^xsd:string ; a owl:Class ; rdfs:label "obsolete synovitis and tenosynovitis"^^xsd:string ; owl:deprecated true . obo:DOID_3132 obo:IAO_0000115 "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:7433"^^xsd:string, "ICD10CM:E80.1"^^xsd:string, "MESH:D017119"^^xsd:string, "NCI:C27725"^^xsd:string, "OMIM:176090"^^xsd:string, "OMIM:176100"^^xsd:string, "ORDO:101330"^^xsd:string, "SNOMEDCT_US_2021_03_01:61860000"^^xsd:string, "UMLS_CUI:C0162566"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3132"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "porphyria cutanea tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_3133 obo:IAO_0000115 "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017094"^^xsd:string, "OMIM:612740"^^xsd:string, "ORDO:100924"^^xsd:string, "SNOMEDCT_US_2021_03_01:55056006"^^xsd:string, "UMLS_CUI:C0162533"^^xsd:string ; oboInOwl:hasExactSynonym "hepatic porphyria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3133"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "acute porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_13268 . obo:DOID_3134 oboInOwl:hasDbXref "MESH:D005148"^^xsd:string, "UMLS_CUI:C0015456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3134"^^xsd:string ; a owl:Class ; rdfs:label "facial dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3136 oboInOwl:hasDbXref "MESH:D012536"^^xsd:string, "SNOMEDCT_US_2021_03_01:402694007"^^xsd:string, "UMLS_CUI:C0036271"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatosis of scalp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3136"^^xsd:string ; a owl:Class ; rdfs:label "scalp dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3137 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3137"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multiple symmetrical lipomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_3138 oboInOwl:hasDbXref "GARD:8603"^^xsd:string, "ICD10CM:L83"^^xsd:string, "MESH:D000052"^^xsd:string, "NCI:C26687"^^xsd:string, "OMIM:100600"^^xsd:string, "OMIM:200170"^^xsd:string, "SNOMEDCT_US_2021_03_01:72129000"^^xsd:string, "UMLS_CUI:C0000889"^^xsd:string ; oboInOwl:hasExactSynonym "AN - Acanthosis nigricans"@en, "Acanthosis nigricans"@en, "Keratosis nigricans"@en, "keratosis nigricans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acanthosis nigricans"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 ; skos:exactMatch "MESH:D000052"^^xsd:string . obo:DOID_314 oboInOwl:hasDbXref "ICD9CM:727.02"^^xsd:string, "MESH:D000070779"^^xsd:string, "NCI:C3402"^^xsd:string, "SNOMEDCT_US_2021_03_01:310605004"^^xsd:string, "UMLS_CUI:C1318543"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell tumor of Tenosynovium"@en, "Giant cell tumor of tendon sheath"@en, "Giant cell tumour of Tenosynovium"@en, "Giant cell tumour of tendon sheath"@en, "fibrous histiocytoma of tendon sheath"@en, "tenosynovial giant cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:314"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "tenosynovial giant cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_200 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_200 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000304 ] ) ] . obo:DOID_3140 obo:IAO_0000115 "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions."^^xsd:string ; oboInOwl:hasDbXref "GARD:5975"^^xsd:string, "MESH:D012592"^^xsd:string, "NCI:C85057"^^xsd:string, "SNOMEDCT_US_2021_03_01:72967001"^^xsd:string, "UMLS_CUI:C0036413"^^xsd:string ; oboInOwl:hasExactSynonym "Buschke's scleredema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scleredema adultorum"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3141 obo:IAO_0000115 "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017520"^^xsd:string, "SNOMEDCT_US_2021_03_01:11528001"^^xsd:string, "UMLS_CUI:C0162855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3141"^^xsd:string ; a owl:Class ; rdfs:label "mucinoses"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_3142 oboInOwl:hasDbXref "MESH:D007868"^^xsd:string, "UMLS_CUI:C0023219"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3142"^^xsd:string ; a owl:Class ; rdfs:label "leg dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3143 oboInOwl:hasAlternativeId "DOID:8546"^^xsd:string, "DOID:8547"^^xsd:string, "DOID:8550"^^xsd:string, "DOID:8588"^^xsd:string, "DOID:8589"^^xsd:string, "DOID:8657"^^xsd:string, "DOID:8723"^^xsd:string, "DOID:8804"^^xsd:string, "DOID:8901"^^xsd:string, "DOID:8908"^^xsd:string, "DOID:9014"^^xsd:string, "DOID:9089"^^xsd:string, "DOID:9147"^^xsd:string, "DOID:9236"^^xsd:string ; oboInOwl:hasExactSynonym "Contact dermatitis and other eczema"@en, "Contact dermatitis and other eczema due to animal (cat) (dog) dander"@en, "Contact dermatitis and other eczema due to detergents"@en, "Contact dermatitis and other eczema due to drugs and medicines in contact with skin"@en, "Contact dermatitis and other eczema due to food in contact with skin"@en, "Contact dermatitis and other eczema due to oils and greases"@en, "Contact dermatitis and other eczema due to other chemical products"@en, "Contact dermatitis and other eczema due to other specified agents"@en, "Contact dermatitis and other eczema due to plants"@en, "Contact dermatitis and other eczema due to plants [except food]"@en, "Contact dermatitis and other eczema due to solvents"@en, "Contact dermatitis and other eczema, unspecified cause"@en, "Contact dermatitis and other eczemas"@en, "Contact dermatitis and other eczemas (disorder)"@en, "Contact dermatitis due to cosmetics"@en, "Contact dermatitis due to cosmetics (disorder)"@en, "Contact dermatitis due to metal (disorder)"@en, "Contact dermatitis due to metals"@en, "Contact dermatitis due to metals (disorder)"@en, "Contact dermatitis: metals"@en, "Dermatitis due to cosmetics"@en, "Dermatitis due to metals"@en, "Dermatitis due to other radiation"@en, "Dermatitis due to other radiation NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3143"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eczematous skin disease"^^xsd:string ; owl:deprecated true . obo:DOID_3144 obo:IAO_0000115 "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity."^^xsd:string ; oboInOwl:hasDbXref "GARD:6227"^^xsd:string, "ICD10CM:Q82.8"^^xsd:string, "MESH:D003483"^^xsd:string, "NCI:C84663"^^xsd:string, "OMIM:PS123700"^^xsd:string, "ORDO:209"^^xsd:string, "SNOMEDCT_US_2021_03_01:238825007"^^xsd:string, "UMLS_CUI:C0010495"^^xsd:string ; oboInOwl:hasExactSynonym "Cutis laxa"@en, "loose skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3144"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "cutis laxa"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3145 obo:IAO_0000115 "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006952"^^xsd:string, "NCI:C34710"^^xsd:string, "OMIM:617347"^^xsd:string, "SNOMEDCT_US_2021_03_01:42569002"^^xsd:string, "UMLS_CUI:C0020479"^^xsd:string ; oboInOwl:hasExactSynonym "Remnant hyperlipidemia"@en, "carbohydrate induced hyperlipemia"@en, "familial hypercholesterolaemia with hyperlipaemia"@en, "familial type 3 hyperlipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3145"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperlipoproteinemia type III"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_3146 obo:IAO_0000115 "An inherited metabolic disorder that involves the creation and degradation of lipids."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008052"^^xsd:string, "UMLS_CUI:C0023772"^^xsd:string ; oboInOwl:hasExactSynonym "dyslipidemia"@en, "fatty acid metabolism disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3146"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "lipid metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_3148 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:254783008"^^xsd:string, "UMLS_CUI:C0474966"^^xsd:string ; oboInOwl:hasExactSynonym "Unilateral Segmental Cavernous hemangioma of the skin"@en, "Unilateral segmental cavernous hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3148"^^xsd:string ; a owl:Class ; rdfs:label "dermal unilateral segmental cavernous angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_483 . obo:DOID_3149 oboInOwl:hasDbXref "MESH:D007636"^^xsd:string, "NCI:C3146"^^xsd:string, "SNOMEDCT_US_2021_03_01:201061007"^^xsd:string, "UMLS_CUI:C0022572"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3149"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratoacanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_315 oboInOwl:hasDbXref "NCI:C8964"^^xsd:string, "SNOMEDCT_US_2021_03_01:189829008"^^xsd:string, "UMLS_CUI:C0476203"^^xsd:string ; oboInOwl:hasExactSynonym "Synovial neoplasm"@en, "tumor of Synovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synovium neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_3151 obo:IAO_0000115 "A skin carcinoma that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4819"^^xsd:string, "SNOMEDCT_US_2021_03_01:254651007"^^xsd:string, "UMLS_CUI:C0553723"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid skin carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of skin"@en ; oboInOwl:id "DOID:3151"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3451, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_3153 oboInOwl:hasDbXref "ICD10CM:E88.2"^^xsd:string, "MESH:D008068"^^xsd:string, "SNOMEDCT_US_2021_03_01:37095002"^^xsd:string, "UMLS_CUI:C0023801"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3153"^^xsd:string ; a owl:Class ; rdfs:label "lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3156 obo:IAO_0000115 "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation)."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010859"^^xsd:string, "NCI:C7582"^^xsd:string, "OMIM:300337"^^xsd:string, "SNOMEDCT_US_2021_03_01:367520004"^^xsd:string, "UMLS_CUI:C0022283"^^xsd:string ; oboInOwl:hasExactSynonym "Bloch-Siemans syndrome"@en, "Incontinentia pigmenti achromians syndrome"@en, "Ito's nevus"@en, "incontinentia pigmenti achromians"@en, "nevus of Ito"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypomelanosis of Ito"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3157 oboInOwl:hasExactSynonym "Congenital Pigmented skin nevus"@en, "Congenital melanocytic naevus of skin"@en, "Congenital melanocytic nevus (disorder)"@en, "Congenital melanocytic nevus (morphologic abnormality)"@en, "Congenital pigmented melanocytic naevus"@en, "Congenital pigmented melanocytic naevus of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital melanocytic nevus"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_3158 oboInOwl:hasDbXref "MESH:D006229"^^xsd:string, "UMLS_CUI:C0018567"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3158"^^xsd:string ; a owl:Class ; rdfs:label "hand dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002398 ] . obo:DOID_3159 oboInOwl:hasDbXref "MESH:D010787"^^xsd:string, "SNOMEDCT_US_2021_03_01:22649008"^^xsd:string, "UMLS_CUI:C0031762"^^xsd:string ; oboInOwl:hasExactSynonym "Photodermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3159"^^xsd:string ; a owl:Class ; rdfs:label "photosensitivity disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_3162 obo:IAO_0000115 "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4237"^^xsd:string, "SNOMEDCT_US_2021_03_01:68827007"^^xsd:string, "UMLS_CUI:C0334444"^^xsd:string ; oboInOwl:hasExactSynonym "Spitzoid malignant melanoma"@en, "spindle cell malignant melanoma"@en, "spindle cell melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "desmoplastic melanoma"@en ; oboInOwl:id "DOID:3162"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant spindle cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909 . obo:DOID_3163 obo:IAO_0000115 "A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells."^^xsd:string ; oboInOwl:hasExactSynonym "malignant spindle cell tumor"@en, "malignant tumor, fusiform cell type (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spindle cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_3164 oboInOwl:hasExactSynonym "Hair nevus (disorder)"@en, "Hairy naevus"@en, "Hairy naevus NOS"@en, "Hairy nevus NOS (morphologic abnormality)"@en, "Nevoid hypertrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3164"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hair nevus"^^xsd:string ; owl:deprecated true . obo:DOID_3165 oboInOwl:hasDbXref "MESH:D012878"^^xsd:string, "NCI:C3372"^^xsd:string, "SNOMEDCT_US_2021_03_01:126488004"^^xsd:string, "UMLS_CUI:C0037286"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of skin"@en, "neoplasm of skin by site"@en, "skin neoplasm"@en, "tumor of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060121, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_3166 oboInOwl:hasDbXref "ICD10CM:D72.823"^^xsd:string, "ICD9CM:288.62"^^xsd:string, "MESH:D007955"^^xsd:string, "NCI:C3185"^^xsd:string, "UMLS_CUI:C0023501"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "transient myeloproliferative disorder"@en ; oboInOwl:id "DOID:3166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated."^^xsd:string ; rdfs:label "obsolete leukemoid reaction"^^xsd:string ; owl:deprecated true . obo:DOID_3168 obo:IAO_0000115 "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018307"^^xsd:string, "NCI:C3792"^^xsd:string, "SNOMEDCT_US_2021_03_01:118286007"^^xsd:string, "UMLS_CUI:C0206720"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid cell tumor"@en, "squamous cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000924 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000925 ] ) ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] ) ] . obo:DOID_3169 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3169"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillary epithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3171 oboInOwl:hasExactSynonym "papilloma of the respiratory tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3171"^^xsd:string ; a owl:Class ; rdfs:label "obsolete respiratory tract papilloma"^^xsd:string ; owl:deprecated true . obo:DOID_3172 oboInOwl:hasDbXref "MESH:D000236"^^xsd:string, "NCI:C79951"^^xsd:string, "SNOMEDCT_US_2021_03_01:86143001"^^xsd:string, "UMLS_CUI:C0205650"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenoma"@en, "glandular papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3172"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_3173 obo:IAO_0000115 "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40112"^^xsd:string, "UMLS_CUI:C1517123"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3173"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube serous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060111 . obo:DOID_3177 oboInOwl:hasDbXref "NCI:C4101"^^xsd:string, "SNOMEDCT_US_2021_03_01:48218007"^^xsd:string, "UMLS_CUI:C0334243"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3177"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "verrucous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615 . obo:DOID_3178 oboInOwl:hasDbXref "NCI:C4614"^^xsd:string, "SNOMEDCT_US_2021_03_01:189051001"^^xsd:string, "UMLS_CUI:C0347390"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous papilloma"@en, "cutaneous papilloma"@en, "papilloma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3178"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_3179 oboInOwl:hasDbXref "MESH:D018308"^^xsd:string, "NCI:C3793"^^xsd:string, "SNOMEDCT_US_2021_03_01:104081000119103"^^xsd:string, "UMLS_CUI:C0206721"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma"@en, "Inverted papilloma, squamous cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3179"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615 . obo:DOID_318 oboInOwl:hasDbXref "ICD9CM:335.21"^^xsd:string, "MESH:D009134"^^xsd:string, "NCI:C85027"^^xsd:string, "SNOMEDCT_US_2021_03_01:88923002"^^xsd:string, "UMLS_CUI:C0917981"^^xsd:string ; oboInOwl:hasExactSynonym "Pure progressive muscular atrophy"@en, "progressive spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:318"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "progressive muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_231 . obo:DOID_3181 oboInOwl:hasAlternativeId "DOID:3182"^^xsd:string ; oboInOwl:hasDbXref "GARD:9953"^^xsd:string, "ICDO:9450/3"^^xsd:string, "MESH:D009837"^^xsd:string, "NCI:C3288"^^xsd:string, "SNOMEDCT_US_2021_03_01:443936004"^^xsd:string, "UMLS_CUI:C0751396"^^xsd:string ; oboInOwl:hasExactSynonym "oligodendroglial neoplasm"@en, "oligodendroglial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3181"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000128 ] ) ] ) ] ; skos:exactMatch "MESH:D009837"^^xsd:string . obo:DOID_3183 oboInOwl:hasDbXref "MESH:D009837"^^xsd:string, "NCI:C4045"^^xsd:string, "UMLS_CUI:C0280475"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Oligodendroglioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3183"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3184 oboInOwl:hasDbXref "NCI:C4535"^^xsd:string, "SNOMEDCT_US_2021_03_01:254950006"^^xsd:string, "UMLS_CUI:C0346295"^^xsd:string ; oboInOwl:hasExactSynonym "Oligodendroglioma of spinal cord"@en, "Well differentiated Spinal Cord Oligodendroglioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181, obo:DOID_3185, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000128 ] . obo:DOID_3185 obo:IAO_0000115 "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4534"^^xsd:string, "SNOMEDCT_US_2021_03_01:254946004"^^xsd:string, "UMLS_CUI:C2937245"^^xsd:string ; oboInOwl:hasExactSynonym "Glial neoplasm Spinal Cord"@en, "Glial tumor of spinal cord"@en, "glioma of spinal cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3185"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_5612 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] ) ] . obo:DOID_3186 oboInOwl:hasAlternativeId "DOID:7355"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009837"^^xsd:string, "NCI:C4014"^^xsd:string, "NCI:C9376"^^xsd:string, "UMLS_CUI:C0279070"^^xsd:string, "UMLS_CUI:C1332190"^^xsd:string ; oboInOwl:hasExactSynonym "adult brain oligodendroglioma"@en, "grade II adult Oligodendroglial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3186"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3187 obo:IAO_0000115 "A brain glioma that has_material_basis_in oligodendrocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9377"^^xsd:string, "SNOMEDCT_US_2021_03_01:254940005"^^xsd:string, "UMLS_CUI:C0346286"^^xsd:string ; oboInOwl:hasExactSynonym "Oligodendroglioma of brain"@en, "brain Oligodendroglioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3187"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060108 . obo:DOID_319 oboInOwl:hasDbXref "ICD10CM:G95.9"^^xsd:string, "ICD9CM:336.9"^^xsd:string, "MESH:D013118"^^xsd:string, "NCI:C97110"^^xsd:string, "SNOMEDCT_US_2021_03_01:48522003"^^xsd:string, "UMLS_CUI:C0037928"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "myelopathy"@en ; oboInOwl:id "DOID:319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord disease"^^xsd:string ; rdfs:subClassOf obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_3191 obo:IAO_0000115 "A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies."^^xsd:string ; oboInOwl:hasDbXref "GARD:12033"^^xsd:string, "ICD10CM:G71.21"^^xsd:string, "MESH:D017696"^^xsd:string, "OMIM:PS161800"^^xsd:string, "ORDO:607"^^xsd:string, "SNOMEDCT_US_2021_03_01:75072002"^^xsd:string, "UMLS_CUI:C0206157"^^xsd:string ; oboInOwl:hasExactSynonym "Nemaline body disease"@en, "nemaline rod myopathy"@en, "rod myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3191"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "nemaline myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_422, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_3192 oboInOwl:hasDbXref "ICDO:9560/3"^^xsd:string, "MESH:D009442"^^xsd:string, "NCI:C3269"^^xsd:string, "SNOMEDCT_US_2021_03_01:985004"^^xsd:string, "UMLS_CUI:C0027809"^^xsd:string ; oboInOwl:hasExactSynonym "Psammomatous schwannoma"@en, "schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells."^^xsd:string ; rdfs:label "neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2001 . obo:DOID_3193 obo:IAO_0000115 "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018317"^^xsd:string, "UMLS_CUI:C0751689"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of the nerve Sheath"@en, "nerve sheath tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3193"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "peripheral nerve sheath neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1192 . obo:DOID_3196 obo:IAO_0000115 "A neurilemmoma with a predominantly cellular growth but no Verocay bodies."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4724"^^xsd:string, "SNOMEDCT_US_2021_03_01:253086004"^^xsd:string, "UMLS_CUI:C0431124"^^xsd:string ; oboInOwl:hasExactSynonym "cellular Neurinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3196"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular schwannoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_3197 obo:IAO_0000115 "A neurilemmoma that is located_in the 12th cranial nerve."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5434"^^xsd:string, "UMLS_CUI:C1335928"^^xsd:string ; oboInOwl:hasExactSynonym "Hypoglossal Schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3197"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schwannoma of twelfth cranial nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_13814, obo:DOID_3192 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3192 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001650 ] ) ] . obo:DOID_3198 oboInOwl:hasDbXref "NCI:C5830"^^xsd:string, "SNOMEDCT_US_2021_03_01:126978008"^^xsd:string, "UMLS_CUI:C1263903"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of hypoglossal nerve"@en, "tumor of Hypoglossal nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoglossal nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_3199 oboInOwl:hasDbXref "NCI:C5413"^^xsd:string, "UMLS_CUI:C1332905"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellopontine Angle Neurinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3199"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "C-P angle neurinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3200 . obo:DOID_320 oboInOwl:hasDbXref "ICD10CM:G95.1"^^xsd:string, "ICD9CM:336.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:29774004"^^xsd:string, "UMLS_CUI:C0154685"^^xsd:string ; oboInOwl:hasExactSynonym "vascular myelopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:320"^^xsd:string ; a owl:Class ; rdfs:label "vascular myelopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_319 . obo:DOID_3200 obo:IAO_0000115 "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5414"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellopontine angle tumor"@en, "Cerebellopontine angle tumour"@en, "cerebellopontine angle tumour"@en, "neoplasm of the Cerebellopontine Angle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellopontine angle tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4203 . obo:DOID_3201 oboInOwl:hasDbXref "NCI:C5421"^^xsd:string, "UMLS_CUI:C1336543"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sympathetic neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2621 . obo:DOID_3202 oboInOwl:hasDbXref "NCI:C4655"^^xsd:string, "SNOMEDCT_US_2021_03_01:277185000"^^xsd:string, "UMLS_CUI:C0349582"^^xsd:string ; oboInOwl:hasExactSynonym "Trigeminal Neurilemmoma"@en, "Trigeminal schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurilemmoma of the fifth cranial nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_1201 . obo:DOID_3203 oboInOwl:hasDbXref "NCI:C5321"^^xsd:string, "UMLS_CUI:C4054526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macrocystic neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_3204 oboInOwl:hasDbXref "ICD10CM:Q85.03"^^xsd:string, "ICD9CM:237.73"^^xsd:string, "MESH:C536641"^^xsd:string, "NCI:C6557"^^xsd:string, "OMIM:162091"^^xsd:string, "OMIM:615670"^^xsd:string, "SNOMEDCT_US_2021_03_01:781641005"^^xsd:string, "UMLS_CUI:C1335929"^^xsd:string ; oboInOwl:hasExactSynonym "Schwannomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3204"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "neurilemmomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_3205 oboInOwl:hasDbXref "NCI:C6970"^^xsd:string, "SNOMEDCT_US_2021_03_01:253088003"^^xsd:string, "UMLS_CUI:C1306247"^^xsd:string ; oboInOwl:hasExactSynonym "Melanotic Schwannoma"@en, "Melanotic neurilemmoma"@en, "Pigmented Neurilemmoma"@en, "Pigmented schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanotic neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_3206 oboInOwl:hasDbXref "NCI:C6969"^^xsd:string, "SNOMEDCT_US_2021_03_01:404025004"^^xsd:string, "UMLS_CUI:C1370659"^^xsd:string ; oboInOwl:hasExactSynonym "Plexiform Neurinoma"@en, "Plexiform Schwannoma"@en, "Plexiform neurilemmoma"@en, "Plexiform schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plexiform schwannoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_3208 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3208"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sensation disorder"^^xsd:string ; owl:deprecated true . obo:DOID_3209 obo:IAO_0000115 "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:2152"^^xsd:string, "MESH:D016109"^^xsd:string, "NCI:C90598"^^xsd:string, "SNOMEDCT_US_2021_03_01:76905008"^^xsd:string, "UMLS_CUI:C0079301"^^xsd:string ; oboInOwl:hasExactSynonym "congenital junctional epidermolysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "junctional epidermolysis bullosa"^^xsd:string ; rdfs:subClassOf obo:DOID_2730 . obo:DOID_321 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G04.1"^^xsd:string, "MESH:D015493"^^xsd:string, "OMIM:159580"^^xsd:string, "SNOMEDCT_US_2021_03_01:45129002"^^xsd:string, "UMLS_CUI:C0030481"^^xsd:string ; oboInOwl:hasExactSynonym "HTLV-associated myelopathy"@en, "Tropical spastic paralysis"@en, "Tropical spastic paraplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:321"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tropical spastic paraparesis"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11908 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_3210 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "GARD:4265"^^xsd:string, "MESH:D020371"^^xsd:string, "NCI:C75487"^^xsd:string, "OMIM:312080"^^xsd:string, "ORDO:702"^^xsd:string, "SNOMEDCT_US_2021_03_01:64855000"^^xsd:string, "UMLS_CUI:C0205711"^^xsd:string ; oboInOwl:hasExactSynonym "HLD1"@en, "Leukodystrophy, sudanophilic"@en, "PMD"@en, "Pelizaeus Merzbacher brain sclerosis"@en, "Pelizaeus-Merzbacher brain sclerosis"@en, "diffuse familial brain sclerosis"@en, "hypomyelinating leukodystrophy 1"@en, "sudanophilic leukodystrophy, Paelizeus-Merzbacher type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pelizaeus-Merzbacher disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060786, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_3211 obo:IAO_0000115 "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016464"^^xsd:string, "NCI:C61250"^^xsd:string, "SNOMEDCT_US_2021_03_01:23585005"^^xsd:string, "UMLS_CUI:C0085078"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of lysosomal enzyme"@en, "inborn lysosomal enzyme disorder"@en, "lysosomal storage metabolism disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3211"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lysosomal storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_3212 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3212"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary central nervous system demyelinating disease"^^xsd:string ; owl:deprecated true . obo:DOID_3213 obo:IAO_0000115 "A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003711"^^xsd:string, "NCI:C34527"^^xsd:string, "UMLS_CUI:C0011303"^^xsd:string ; oboInOwl:hasExactSynonym "demyelinating disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "demyelinating disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_3215 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis."^^xsd:string ; oboInOwl:hasExactSynonym "Infectious bovine rhinotracheitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious bovine rhinotracheitis"^^xsd:string ; owl:deprecated true . obo:DOID_3216 oboInOwl:hasDbXref "NCI:C5787"^^xsd:string, "UMLS_CUI:C1334297"^^xsd:string ; oboInOwl:hasExactSynonym "Somatosatinoma of Jejunum"@en, "jejunal delta cell somatostatin producing tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3216"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "jejunal somatostatinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13499 . obo:DOID_3217 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3217"^^xsd:string ; a owl:Class ; rdfs:label "obsolete small intestinal delta cell somatostatin producing tumor"^^xsd:string ; owl:deprecated true . obo:DOID_3218 oboInOwl:hasDbXref "MESH:D007580"^^xsd:string, "NCI:C8401"^^xsd:string, "SNOMEDCT_US_2021_03_01:254575004"^^xsd:string, "UMLS_CUI:C0022374"^^xsd:string ; oboInOwl:hasExactSynonym "Jejunal tumor"@en, "neoplasm of jejunum"@en, "tumor of jejunum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3218"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "jejunal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_7505 . obo:DOID_322 obo:IAO_0000115 "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord."^^xsd:string ; oboInOwl:hasDbXref "GARD:7130"^^xsd:string, "MESH:D009187"^^xsd:string, "NCI:C26832"^^xsd:string, "SNOMEDCT_US_2021_03_01:192682002"^^xsd:string, "UMLS_CUI:C0026975"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_3222 oboInOwl:hasDbXref "MESH:D002422"^^xsd:string, "NCI:C121572"^^xsd:string, "SNOMEDCT_US_2021_03_01:247397004"^^xsd:string, "UMLS_CUI:C0007462"^^xsd:string ; oboInOwl:hasExactSynonym "Complex regional pain syndrome, type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3222"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "causalgia"^^xsd:string ; rdfs:subClassOf obo:DOID_3223 . obo:DOID_3223 oboInOwl:hasDbXref "GARD:4647"^^xsd:string, "MESH:D020918"^^xsd:string, "SNOMEDCT_US_2021_03_01:128200000"^^xsd:string, "UMLS_CUI:C0458219"^^xsd:string ; oboInOwl:hasExactSynonym "Complex regional pain syndromes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3223"^^xsd:string ; a owl:Class ; rdfs:label "complex regional pain syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_3225 oboInOwl:hasDbXref "ICD10CM:S12.8"^^xsd:string, "MESH:D014133"^^xsd:string, "NCI:C35079"^^xsd:string, "SNOMEDCT_US_2021_03_01:47125007"^^xsd:string, "UMLS_CUI:C0040580"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3225"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_974 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] ) ] . obo:DOID_3227 oboInOwl:hasDbXref "MESH:D014135"^^xsd:string, "NCI:C78646"^^xsd:string, "SNOMEDCT_US_2021_03_01:11296007"^^xsd:string, "UMLS_CUI:C0040583"^^xsd:string ; oboInOwl:hasExactSynonym "Stenosis of trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3227"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheal stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3225 ; skos:exactMatch "MESH:D014135"^^xsd:string . obo:DOID_3229 oboInOwl:hasDbXref "MESH:D013271"^^xsd:string, "UMLS_CUI:C0038353"^^xsd:string ; oboInOwl:hasExactSynonym "stomach dilatation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3229"^^xsd:string ; a owl:Class ; rdfs:label "gastric dilatation"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_323 obo:IAO_0000115 "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2931"^^xsd:string ; oboInOwl:hasExactSynonym "HTLV-1 infectious disease"@en, "HTLV-I infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:323"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Human T-lymphotropic virus 1 infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3230 oboInOwl:hasDbXref "MESH:D006610"^^xsd:string, "UMLS_CUI:C0019537"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3230"^^xsd:string ; a owl:Class ; rdfs:label "high pressure neurological syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_3231 oboInOwl:hasExactSynonym "occupational disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete occupational disease"^^xsd:string ; owl:deprecated true . obo:DOID_3234 obo:IAO_0000115 "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3233"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:200.5"^^xsd:string, "NCI:C9301"^^xsd:string, "SNOMEDCT_US_2021_03_01:307649006"^^xsd:string, "UMLS_CUI:C0280803"^^xsd:string ; oboInOwl:hasExactSynonym "Microglioma"@en, "primary CNS lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3234"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5772, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_3239 oboInOwl:hasAlternativeId "DOID:2416"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell nevus"@en, "spindle cell nevus (disorder)"@en, "spindle cell nevus (morphologic abnormality)"@en, "spindle cell nevus of Reed"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pigmented spindle cell nevus"^^xsd:string ; owl:deprecated true . obo:DOID_3240 obo:IAO_0000115 "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13016"^^xsd:string, "DOID:13506"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J69.0"^^xsd:string, "MESH:D011015"^^xsd:string, "SNOMEDCT_US_2021_03_01:47839005"^^xsd:string, "UMLS_CUI:C0032290"^^xsd:string ; oboInOwl:hasExactSynonym "Chemical pneumonitis"@en, "Mendelson's Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3240"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aspiration pneumonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000734 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_3241 obo:IAO_0000115 "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13015"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J69.1"^^xsd:string, "MESH:D011017"^^xsd:string, "SNOMEDCT_US_2021_03_01:196038008"^^xsd:string, "UMLS_CUI:C0032298"^^xsd:string ; oboInOwl:hasExactSynonym "Exogenous lipoid pneumonia"@en, "Lipoid pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3241"^^xsd:string ; a owl:Class ; rdfs:label "lipid pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_3240 . obo:DOID_3246 obo:IAO_0000115 "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:4702"^^xsd:string, "ICDO:8910/3"^^xsd:string, "MESH:D018233"^^xsd:string, "NCI:C8971"^^xsd:string, "OMIM:268210"^^xsd:string, "ORDO:99757"^^xsd:string, "SNOMEDCT_US_2021_03_01:404051002"^^xsd:string, "UMLS_CUI:C0206656"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3246"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_3247 obo:IAO_0000115 "A skeletal muscle cancer that arise from skeletal muscle progenitors."^^xsd:string ; oboInOwl:hasDbXref "ICDO:8900/3"^^xsd:string, "MESH:D012208"^^xsd:string, "NCI:C3359"^^xsd:string, "SNOMEDCT_US_2021_03_01:302847003"^^xsd:string, "UMLS_CUI:C0035412"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3247"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_4043, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_3250 oboInOwl:hasDbXref "NCI:C4258"^^xsd:string, "SNOMEDCT_US_2021_03_01:404054005"^^xsd:string, "UMLS_CUI:C0334480"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic rhabdomyosarcoma"@en, "Pleomorphic rhabdomyosarcoma, adult type"@en, "anaplastic Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3250"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_3251 obo:IAO_0000115 "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5525"^^xsd:string, "UMLS_CUI:C1335508"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal Rhabdomyosarcoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3251"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3252 . obo:DOID_3252 obo:IAO_0000115 "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5522"^^xsd:string, "UMLS_CUI:C1335518"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4054 . obo:DOID_3253 oboInOwl:hasDbXref "NCI:C5847"^^xsd:string, "UMLS_CUI:C1333505"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal extrahepatic bile duct Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal extrahepatic bile duct rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3254 . obo:DOID_3254 obo:IAO_0000115 "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5860"^^xsd:string, "UMLS_CUI:C2064434"^^xsd:string ; oboInOwl:hasExactSynonym "rhabdomyosarcoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3254"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247, obo:DOID_4606, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_3255 oboInOwl:hasDbXref "NCI:C9150"^^xsd:string, "SNOMEDCT_US_2021_03_01:404052009"^^xsd:string, "UMLS_CUI:C1306573"^^xsd:string ; oboInOwl:hasExactSynonym "Botryoid sarcoma"@en, "Botryoid-type Embryonal Rhabdomyosarcoma"@en, "sarcoma botryoides"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3255"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3246 . obo:DOID_3256 oboInOwl:hasExactSynonym "pediatric Embryonal Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete embryonal childhood rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3257 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3258 obo:IAO_0000115 "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6246"^^xsd:string, "UMLS_CUI:C1335127"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal Rhabdomyosarcoma of the orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbit embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3259 . obo:DOID_3259 obo:IAO_0000115 "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537605"^^xsd:string, "NCI:C4543"^^xsd:string, "SNOMEDCT_US_2021_03_01:254994000"^^xsd:string, "UMLS_CUI:C0346347"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of orbit"@en, "Rhabdomyosarcoma of the orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbit rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9987 . obo:DOID_326 obo:IAO_0000115 "A vascular disease that is characterized by a restriction in blood supply to tissues."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007511"^^xsd:string, "NCI:C34738"^^xsd:string, "SNOMEDCT_US_2021_03_01:52674009"^^xsd:string, "UMLS_CUI:C0022116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_3260 oboInOwl:hasDbXref "NCI:C6519"^^xsd:string, "SNOMEDCT_US_2021_03_01:404055006"^^xsd:string, "UMLS_CUI:C1266134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3260"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3246 . obo:DOID_3261 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:6800"^^xsd:string, "MESH:D007589"^^xsd:string, "NCI:C126342"^^xsd:string, "OMIM:147060"^^xsd:string, "ORDO:2314"^^xsd:string, "UMLS_CUI:C1968689"^^xsd:string, "UMLS_CUI:C2936739"^^xsd:string ; oboInOwl:hasExactSynonym "Job syndrome"@en, "Job's syndrome"@en, "hyperimmunoglobulin E syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyper IgE recurrent infection syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3262 obo:IAO_0000115 "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010585"^^xsd:string, "UMLS_CUI:C0031306"^^xsd:string ; oboInOwl:hasExactSynonym "phagocytic dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3262"^^xsd:string ; a owl:Class ; rdfs:label "phagocyte bactericidal dysfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_612 ; skos:exactMatch "MESH:D010585"^^xsd:string . obo:DOID_3263 obo:IAO_0000115 "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:4344"^^xsd:string, "ICD10CM:E70.39"^^xsd:string, "MESH:D016116"^^xsd:string, "NCI:C85009"^^xsd:string, "OMIM:172800"^^xsd:string, "ORDO:2884"^^xsd:string, "SNOMEDCT_US_2021_03_01:718122005"^^xsd:string, "UMLS_CUI:C0080024"^^xsd:string ; oboInOwl:hasExactSynonym "PIEBALD TRAIT"@en, "Partial albinism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3263"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "piebaldism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_16, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3264 obo:IAO_0000115 "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:208.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:49432002"^^xsd:string, "UMLS_CUI:C0153924"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3264"^^xsd:string ; a owl:Class ; rdfs:label "subacute leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_3265 obo:IAO_0000115 "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed."^^xsd:string ; oboInOwl:hasDbXref "GARD:6100"^^xsd:string, "ICD10CM:D71"^^xsd:string, "MESH:D006105"^^xsd:string, "NCI:C26788"^^xsd:string, "ORDO:379"^^xsd:string, "SNOMEDCT_US_2021_03_01:11210002"^^xsd:string, "UMLS_CUI:C0018203"^^xsd:string ; oboInOwl:hasExactSynonym "Bridges-Good syndrome"@en, "CGD"@en, "Congenital dysphagocytosis"@en, "Quie syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3265"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "chronic granulomatous disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, obo:DOID_3262, obo:DOID_37, obo:DOID_850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_612 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_3267 obo:IAO_0000115 "An ovarian cystadenoma that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4512"^^xsd:string, "SNOMEDCT_US_2021_03_01:119422004"^^xsd:string, "UMLS_CUI:C0346172"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian mucinous Cystadenoma"@en, "mucinous cystadenoma of ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3267"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous ovarian cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3269 . obo:DOID_3269 obo:IAO_0000115 "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4060"^^xsd:string, "SNOMEDCT_US_2021_03_01:198297004"^^xsd:string, "UMLS_CUI:C0346169"^^xsd:string ; oboInOwl:hasExactSynonym "Cystoma Serosum simplex"@en, "simple cystoma of ovary"@en, "simple cystoma of the ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3269"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_327 oboInOwl:hasDbXref "GARD:7725"^^xsd:string, "MESH:D013595"^^xsd:string, "NCI:C85179"^^xsd:string, "OMIM:186700"^^xsd:string, "ORDO:3280"^^xsd:string, "SNOMEDCT_US_2021_03_01:155020007"^^xsd:string, "UMLS_CUI:C0039144"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syringomyelia"^^xsd:string ; rdfs:subClassOf obo:DOID_319 . obo:DOID_3274 obo:IAO_0000115 "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8101"^^xsd:string, "DOID:8112"^^xsd:string ; oboInOwl:hasDbXref "NCI:C8365"^^xsd:string, "SNOMEDCT_US_2021_03_01:35813005"^^xsd:string, "UMLS_CUI:C0334056"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrocystic change, proliferative type with atypia"@en, "Fibrocystic disease, Proliferative type with Atypia"@en, "Proliferating Lesion of breast without Atypia"@en, "Proliferating Lesion of the breast without Atypia"@en, "Proliferative Fibrocystic Change"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3274"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proliferative type fibrocystic change of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_10354 . obo:DOID_3275 obo:IAO_0000115 "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013945"^^xsd:string, "NCI:C3411"^^xsd:string, "SNOMEDCT_US_2021_03_01:444231005"^^xsd:string, "UMLS_CUI:C0040100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3275"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3277 . obo:DOID_3276 oboInOwl:hasExactSynonym "Thymic Epithelium neoplasm"@en, "Thymic epithelial neoplasm (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "epithelial neoplasm of thymus"@en ; oboInOwl:id "DOID:3276"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thymus epithelial cancer"^^xsd:string ; owl:deprecated true . obo:DOID_3277 obo:IAO_0000115 "An immune system cancer located_in the thymus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10143"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C37"^^xsd:string, "ICD9CM:164.0"^^xsd:string, "MESH:D013953"^^xsd:string, "NCI:C4962"^^xsd:string, "SNOMEDCT_US_2021_03_01:94096009"^^xsd:string, "UMLS_CUI:C0751552"^^xsd:string ; oboInOwl:hasExactSynonym "Thymic tumor"@en, "neoplasm of thymus"@en, "thymic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "thymus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_170, obo:DOID_533 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] ) ] . obo:DOID_3278 oboInOwl:hasDbXref "NCI:C7386"^^xsd:string, "UMLS_CUI:C1333383"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "encapsulated thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_3279 oboInOwl:hasDbXref "NCI:C6454"^^xsd:string, "SNOMEDCT_US_2021_03_01:128707003"^^xsd:string, "UMLS_CUI:C1266091"^^xsd:string ; oboInOwl:hasExactSynonym "Medullary Thymoma"@en, "Thymoma, medullary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3279"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_3280 oboInOwl:hasDbXref "NCI:C6885"^^xsd:string, "SNOMEDCT_US_2021_03_01:128709000"^^xsd:string, "UMLS_CUI:C1266092"^^xsd:string ; oboInOwl:hasExactSynonym "Thymoma, mixed type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed type thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_3281 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3281"^^xsd:string ; a owl:Class ; rdfs:label "combined thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_3282 oboInOwl:hasDbXref "NCI:C7114"^^xsd:string, "UMLS_CUI:C1328042"^^xsd:string ; oboInOwl:hasExactSynonym "epithelioid Thymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3282"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dendritic cell thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2531, obo:DOID_3275, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3275 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000451 ] ) ] . obo:DOID_3283 oboInOwl:hasDbXref "NCI:C6453"^^xsd:string, "UMLS_CUI:C0278846"^^xsd:string ; oboInOwl:hasExactSynonym "Infiltrating Thymoma"@en, "Thymoma malignant Invasive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3283"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "invasive malignant thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_3284 obo:IAO_0000115 "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013945"^^xsd:string, "NCI:C7569"^^xsd:string, "SNOMEDCT_US_2021_03_01:128717008"^^xsd:string, "UMLS_CUI:C0205969"^^xsd:string ; oboInOwl:hasExactSynonym "Thymic carcinoma"@en, "Thymoma, malignant"@en, "malignant Thymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3284"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3277, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_3292 obo:IAO_0000115 "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "GARD:10722"^^xsd:string, "ICD10CM:B04"^^xsd:string, "ICD9CM:059.01"^^xsd:string, "MESH:D045908"^^xsd:string, "NCI:C128421"^^xsd:string, "SNOMEDCT_US_2021_03_01:240466002"^^xsd:string, "UMLS_CUI:C0276180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "monkeypox"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 obo:TRANS_0000011 ) ] ] . obo:DOID_3293 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3293"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lumpy skin disease"^^xsd:string ; owl:deprecated true . obo:DOID_3295 obo:IAO_0000115 "A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fowlpox"^^xsd:string ; owl:deprecated true . obo:DOID_3296 obo:IAO_0000115 "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Mousepox (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious ectromelia"^^xsd:string ; owl:deprecated true . obo:DOID_3297 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3297"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious myxomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_3298 obo:IAO_0000115 "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014615"^^xsd:string, "SNOMEDCT_US_2021_03_01:111852003"^^xsd:string, "UMLS_CUI:C0042214"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3298"^^xsd:string ; a owl:Class ; rdfs:label "vaccinia"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10245 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ] . obo:DOID_3299 oboInOwl:hasExactSynonym "Pasteurella pseudotuberculosis infection"@en, "Pseudotuberculosis"@en, "Pseudotuberculosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3299"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pseudotuberculosis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3300 oboInOwl:hasExactSynonym "Yersiniosis (disorder)"@en, "Yersiniosis [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3300"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3301 obo:IAO_0000115 "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells)."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018238"^^xsd:string, "NCI:C3754"^^xsd:string, "OMIM:424500"^^xsd:string, "SNOMEDCT_US_2021_03_01:74751003"^^xsd:string, "UMLS_CUI:C0206661"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3301"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gonadoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] ) ] . obo:DOID_3302 obo:IAO_0000115 "A notochordal cancer that derives_from cellular remnants of the notochord."^^xsd:string ; oboInOwl:hasDbXref "GARD:1303"^^xsd:string, "MESH:D002817"^^xsd:string, "NCI:C2947"^^xsd:string, "SNOMEDCT_US_2021_03_01:50007008"^^xsd:string, "UMLS_CUI:C0008487"^^xsd:string ; oboInOwl:hasExactSynonym "notochordoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3302"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3303 . obo:DOID_3303 obo:IAO_0000115 "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7063"^^xsd:string, "UMLS_CUI:C1335069"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "notochordal tumor"@en ; oboInOwl:id "DOID:3303"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "notochordal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_3304 obo:IAO_0000115 "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9064/3"^^xsd:string, "MESH:D018237"^^xsd:string, "NCI:C3753"^^xsd:string, "SNOMEDCT_US_2021_03_01:154603000"^^xsd:string, "UMLS_CUI:C0206660"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3304"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2994 . obo:DOID_3305 obo:IAO_0000115 "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9081/3"^^xsd:string, "MESH:D018243"^^xsd:string, "NCI:C3756"^^xsd:string, "SNOMEDCT_US_2021_03_01:67830002"^^xsd:string, "UMLS_CUI:C0206664"^^xsd:string ; oboInOwl:hasExactSynonym "Teratocarcinoma"@en, "mixed Embryonal carcinoma and teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "teratocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3095 . obo:DOID_3306 obo:IAO_0000115 "A germ cell cancer that occurs in many forms."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9085/3"^^xsd:string, "NCI:C4290"^^xsd:string, "SNOMEDCT_US_2021_03_01:189853002"^^xsd:string, "UMLS_CUI:C0334524"^^xsd:string ; oboInOwl:hasExactSynonym "mixed germ cell neoplasm"@en, "mixed germ cell tumor"^^xsd:string, "mixed germ cell tumour"@en, "mixed teratoma and Seminoma"@en, "mixed teratoma and seminoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3306"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2994 . obo:DOID_3307 obo:IAO_0000115 "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9080/3"^^xsd:string, "MESH:D013724"^^xsd:string, "NCI:C3403"^^xsd:string, "SNOMEDCT_US_2021_03_01:36591000119102"^^xsd:string, "UMLS_CUI:C0039538"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3095 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000924 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000925 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000926 ] ) ] ) ] . obo:DOID_3308 obo:IAO_0000115 "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5676"^^xsd:string ; oboInOwl:hasDbXref "GARD:5140"^^xsd:string, "ICDO:9070/3"^^xsd:string, "MESH:D018236"^^xsd:string, "NCI:C3752"^^xsd:string, "NCI:C8880"^^xsd:string, "SNOMEDCT_US_2021_03_01:28047004"^^xsd:string, "UMLS_CUI:C0206659"^^xsd:string, "UMLS_CUI:C0855159"^^xsd:string ; oboInOwl:hasExactSynonym "primary extragonadal embryonal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3308"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_688 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2994 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_3309 obo:IAO_0000115 "A dermatitis that is characterized by chronic itching or scaling."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009450"^^xsd:string, "NCI:C111963"^^xsd:string, "SNOMEDCT_US_2021_03_01:156383005"^^xsd:string, "UMLS_CUI:C0027822"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3309"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurodermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_331 obo:IAO_0000115 "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G96.9"^^xsd:string, "MESH:D002493"^^xsd:string, "NCI:C2934"^^xsd:string, "SNOMEDCT_US_2021_03_01:267144009"^^xsd:string, "UMLS_CUI:C0007682"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:331"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_3310 obo:IAO_0000115 "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000274"^^xsd:string, "ICD10CM:L20"^^xsd:string, "MESH:D003876"^^xsd:string, "OMIM:603165"^^xsd:string, "OMIM:PS603165"^^xsd:string, "SNOMEDCT_US_2021_03_01:156331003"^^xsd:string, "UMLS_CUI:C0011615"^^xsd:string ; oboInOwl:hasExactSynonym "Atopic dermatitis"@en, "Atopic neurodermatitis"@en, "Besnier's prurigo"@en, "allergic dermatitis"@en, "atopic eczema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3310"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "atopic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000289 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_3312 obo:IAO_0000115 "A mood disorder that involves alternating periods of mania and depression."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3311"^^xsd:string, "DOID:9554"^^xsd:string, "DOID:9555"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000289"^^xsd:string, "GARD:10249"^^xsd:string, "ICD10CM:F31"^^xsd:string, "ICD9CM:296.40"^^xsd:string, "ICD9CM:296.60"^^xsd:string, "ICD9CM:296.80"^^xsd:string, "MESH:D001714"^^xsd:string, "NCI:C34423"^^xsd:string, "NCI:C34424"^^xsd:string, "NCI:C34805"^^xsd:string, "SNOMEDCT_US_2021_03_01:16506000"^^xsd:string, "SNOMEDCT_US_2021_03_01:191627008"^^xsd:string, "SNOMEDCT_US_2021_03_01:192355004"^^xsd:string, "SNOMEDCT_US_2021_03_01:68569003"^^xsd:string, "UMLS_CUI:C0005586"^^xsd:string, "UMLS_CUI:C0005587"^^xsd:string, "UMLS_CUI:C0024713"^^xsd:string, "UMLS_CUI:C0236780"^^xsd:string ; oboInOwl:hasExactSynonym "Manic Bipolar Affective disorder"@en, "Manic Depressive disorder"@en, "Manic bipolar I disorder"@en, "bipolar depression"@en, "bipolar disorder manic phase"@en, "manic depression"@en, "manic disorder"@en, "mixed bipolar disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Depressive-manic psych."@en ; oboInOwl:id "DOID:3312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bipolar disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3324 . obo:DOID_3314 obo:IAO_0000115 "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018207"^^xsd:string, "NCI:C3734"^^xsd:string, "SNOMEDCT_US_2021_03_01:19929002"^^xsd:string, "UMLS_CUI:C0206633"^^xsd:string ; oboInOwl:hasExactSynonym "Angiomyolipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3314"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiomyolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ] ) ] ; skos:exactMatch "MESH:D018207"^^xsd:string . obo:DOID_3315 obo:IAO_0000115 "A cell type benign neoplasm that is composed of lipocytes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3154"^^xsd:string, "DOID:9291"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D17"^^xsd:string, "ICD10CM:D17.9"^^xsd:string, "ICD9CM:214"^^xsd:string, "MESH:D008067"^^xsd:string, "MESH:D018205"^^xsd:string, "NCI:C3192"^^xsd:string, "NCI:C4248"^^xsd:string, "NCI:C4502"^^xsd:string, "OMIM:151900"^^xsd:string, "SNOMEDCT_US_2021_03_01:115227001"^^xsd:string, "SNOMEDCT_US_2021_03_01:154612003"^^xsd:string, "SNOMEDCT_US_2021_03_01:254830006"^^xsd:string, "UMLS_CUI:C0023798"^^xsd:string, "UMLS_CUI:C0206631"^^xsd:string, "UMLS_CUI:C0346118"^^xsd:string ; oboInOwl:hasExactSynonym "LIPOMATOSIS, FAMILIAL MULTIPLE"@en, "Lipomatous neoplasm"@en, "Lipomatous tumor"@en, "benign lipomatous tumor"@en, "benign tumor of Adipose tissue"@en, "multiple lipomatosis"@en, "tumor of adipose tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] ) ] . obo:DOID_3316 oboInOwl:hasAlternativeId "DOID:5234"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6528"^^xsd:string, "NCI:C6530"^^xsd:string, "UMLS_CUI:C1334611"^^xsd:string, "UMLS_CUI:C1335392"^^xsd:string ; oboInOwl:hasExactSynonym "malignant perivascular cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3316"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perivascular tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_175, obo:DOID_201, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] . obo:DOID_3317 oboInOwl:hasDbXref "NCI:C27485"^^xsd:string, "UMLS_CUI:C1333962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3317"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatic angiomyolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_916 . obo:DOID_3318 oboInOwl:hasDbXref "NCI:C38151"^^xsd:string, "SNOMEDCT_US_2020_03_01:733836008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3318"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid type angiomyolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3314 . obo:DOID_3319 obo:IAO_0000115 "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3682"^^xsd:string ; oboInOwl:hasDbXref "GARD:3319"^^xsd:string, "NCI:C38153"^^xsd:string, "OMIM:606690"^^xsd:string, "ORDO:538"^^xsd:string, "SNOMEDCT_US_2021_03_01:277844007"^^xsd:string, "UMLS_CUI:C0349649"^^xsd:string ; oboInOwl:hasExactSynonym "lung lymphangioleiomyomatosis"@en, "lymphangiomyomatosis"@en, "pulmonary lymphangioleiomyomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphangioleiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_850 ; skos:exactMatch "MESH:D018192"^^xsd:string . obo:DOID_332 obo:IAO_0000115 "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000253"^^xsd:string, "GARD:5786"^^xsd:string, "ICD10CM:G12.21"^^xsd:string, "ICD9CM:335.20"^^xsd:string, "KEGG:05014"^^xsd:string, "MESH:D000690"^^xsd:string, "NCI:C34373"^^xsd:string, "OMIM:PS105400"^^xsd:string, "ORDO:803"^^xsd:string, "SNOMEDCT_US_2021_03_01:86044005"^^xsd:string, "UMLS_CUI:C0002736"^^xsd:string ; oboInOwl:hasExactSynonym "ALS"@en, "Lou Gehrig's disease"@en, "motor neuron disease, bulbar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:332"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_231 ; skos:exactMatch "MESH:D000690"^^xsd:string . obo:DOID_3320 obo:IAO_0000115 "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."@en ; oboInOwl:hasDbXref "GARD:7737"^^xsd:string, "ICD10CM:E75.02"^^xsd:string, "MESH:D013661"^^xsd:string, "NCI:C85184"^^xsd:string, "OMIM:272800"^^xsd:string, "SNOMEDCT_US_2021_03_01:111385000"^^xsd:string, "UMLS_CUI:C0039373"^^xsd:string ; oboInOwl:hasExactSynonym "GM2 gangliosidosis, type 1"@en, "hexosaminidase A deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Tay-Sachs disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3321, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3321 obo:IAO_0000115 "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.0"^^xsd:string, "MESH:D020143"^^xsd:string, "SNOMEDCT_US_2021_03_01:33316007"^^xsd:string, "UMLS_CUI:C0268274"^^xsd:string ; oboInOwl:hasExactSynonym "gangliosidosis GM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3321"^^xsd:string ; a owl:Class ; rdfs:label "GM2 gangliosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2368 . obo:DOID_3322 obo:IAO_0000115 "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside."^^xsd:string ; oboInOwl:hasDbXref "GARD:10891"^^xsd:string, "ICD10CM:E75.19"^^xsd:string, "MESH:D016537"^^xsd:string, "NCI:C84739"^^xsd:string, "SNOMEDCT_US_2021_03_01:32917001"^^xsd:string, "UMLS_CUI:C0085131"^^xsd:string ; oboInOwl:hasExactSynonym "Beta-galactosidase deficiency"@en, "deficiency of beta-galactosidase"@en, "gangliosidosis GM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "GM1 gangliosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2368 . obo:DOID_3323 obo:IAO_0000115 "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:7604"^^xsd:string, "ICD10CM:E75.01"^^xsd:string, "MESH:D012497"^^xsd:string, "NCI:C85052"^^xsd:string, "OMIM:268800"^^xsd:string, "SNOMEDCT_US_2021_03_01:23849003"^^xsd:string, "UMLS_CUI:C0036161"^^xsd:string ; oboInOwl:hasExactSynonym "Sandhoff Jatzkewitz disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3323"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Sandhoff disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3321 ; skos:exactMatch "MESH:D012497"^^xsd:string . obo:DOID_3324 obo:IAO_0000115 "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004247"^^xsd:string, "ICD10CM:F39"^^xsd:string, "MESH:D019964"^^xsd:string, "NCI:C92200"^^xsd:string, "SNOMEDCT_US_2021_03_01:46206005"^^xsd:string, "UMLS_CUI:C0525045"^^xsd:string ; oboInOwl:hasExactSynonym "episodic mood disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating outdated UMLS CUI."^^xsd:string ; rdfs:label "mood disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_3325 oboInOwl:hasDbXref "MESH:D011694"^^xsd:string, "SNOMEDCT_US_2021_03_01:402852007"^^xsd:string, "UMLS_CUI:C0034151"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3325"^^xsd:string ; a owl:Class ; rdfs:label "hyperglobulinemic purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_3326 . obo:DOID_3326 oboInOwl:hasDbXref "ICD10CM:D69.2"^^xsd:string, "MESH:D011693"^^xsd:string, "NCI:C78787"^^xsd:string, "SNOMEDCT_US_2021_03_01:423902002"^^xsd:string, "UMLS_CUI:C0034150"^^xsd:string ; oboInOwl:hasExactSynonym "Purpuric disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_2213 ; skos:exactMatch "MESH:D011693"^^xsd:string . obo:DOID_3327 oboInOwl:hasDbXref "MESH:D020938"^^xsd:string, "NCI:C50847"^^xsd:string, "SNOMEDCT_US_2021_03_01:128612007"^^xsd:string, "UMLS_CUI:C0016399"^^xsd:string ; oboInOwl:hasExactSynonym "Focal motor seizure"@en, "epilepsy, focal motor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "partial motor epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 . obo:DOID_3328 oboInOwl:hasDbXref "MESH:D004833"^^xsd:string, "SNOMEDCT_US_2021_03_01:84340007"^^xsd:string, "UMLS_CUI:C0014556"^^xsd:string ; oboInOwl:hasExactSynonym "epilepsy, temporal lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3328"^^xsd:string ; a owl:Class ; rdfs:label "temporal lobe epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1826 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001871 ] ) ] . obo:DOID_3329 oboInOwl:hasDbXref "MESH:D019305"^^xsd:string, "OMIM:117100"^^xsd:string, "UMLS_CUI:C0376532"^^xsd:string ; oboInOwl:hasExactSynonym "BCECTS"@en, "benign Rolandic epilepsy"@en, "benign childhood epilepsy with centrotemporal spike"@en, "rolandic epilepsy"@en, "sylvan seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3329"^^xsd:string ; a owl:Class ; rdfs:label "benign epilepsy with centrotemporal spikes"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_333 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:333"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic factitious illness with physical symptoms"^^xsd:string ; owl:deprecated true . obo:DOID_3330 oboInOwl:hasDbXref "MESH:D020937"^^xsd:string, "UMLS_CUI:C0752322"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3330"^^xsd:string ; a owl:Class ; rdfs:label "partial sensory epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 . obo:DOID_3331 obo:IAO_0000115 "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017034"^^xsd:string, "SNOMEDCT_US_2021_03_01:230394006"^^xsd:string, "UMLS_CUI:C0085541"^^xsd:string ; oboInOwl:hasExactSynonym "Frontal lobe epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3331"^^xsd:string ; a owl:Class ; rdfs:label "frontal lobe epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1826 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016525 ] ) ] . obo:DOID_3332 obo:IAO_0000115 "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006188"^^xsd:string, "UMLS_CUI:C0018477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3332"^^xsd:string ; a owl:Class ; rdfs:label "haemonchiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1255, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_334 obo:IAO_0000115 "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.4"^^xsd:string, "ICD9CM:301.5"^^xsd:string, "MESH:D006677"^^xsd:string, "NCI:C92634"^^xsd:string, "SNOMEDCT_US_2021_03_01:192489002"^^xsd:string, "UMLS_CUI:C0019681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:334"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "histrionic personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_3340 oboInOwl:hasExactSynonym "Lymphangioendothelioma, NOS"@en, "lymphangioendothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphangioendothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_3341 obo:IAO_0000115 "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010002"^^xsd:string, "NCI:C34875"^^xsd:string, "SNOMEDCT_US_2021_03_01:190451000"^^xsd:string, "UMLS_CUI:C0029405"^^xsd:string ; oboInOwl:hasExactSynonym "Osteitis fibrosa cystica generalisata"@en, "Von Recklinghausen's bone disease"@en, "hyperparathyroid bone disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3341"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteitis fibrosa"^^xsd:string ; rdfs:subClassOf obo:DOID_0080011, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019183 ] . obo:DOID_3342 obo:IAO_0000115 "A bone disease that results_in inflammation of the located_in bone."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010000"^^xsd:string, "SNOMEDCT_US_2021_03_01:274144001"^^xsd:string, "UMLS_CUI:C0029400"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory disorder of bone"@en, "bone inflammatory disease"@en, "osteitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3342"^^xsd:string ; a owl:Class ; rdfs:label "bone inflammation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_3343 obo:IAO_0000115 "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)."^^xsd:string ; oboInOwl:hasDbXref "GARD:10670"^^xsd:string, "MESH:D009081"^^xsd:string, "NCI:C61267"^^xsd:string, "OMIM:256550"^^xsd:string, "SNOMEDCT_US_2021_03_01:70528007"^^xsd:string, "UMLS_CUI:C0026697"^^xsd:string ; oboInOwl:hasExactSynonym "Mucolipidosis type I"@en, "sialidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3343"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "glycoproteinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080488 . obo:DOID_3345 obo:IAO_0000115 "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014973"^^xsd:string, "SNOMEDCT_US_2021_03_01:63103006"^^xsd:string, "UMLS_CUI:C0043325"^^xsd:string ; oboInOwl:hasExactSynonym "xanthelasmatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3345"^^xsd:string ; a owl:Class ; rdfs:label "xanthomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_3347 obo:IAO_0000115 "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:183"^^xsd:string ; oboInOwl:hasDbXref "GARD:7284"^^xsd:string, "ICDO:9180/3"^^xsd:string, "MESH:D012516"^^xsd:string, "MESH:D018213"^^xsd:string, "NCI:C9145"^^xsd:string, "OMIM:259500"^^xsd:string, "ORDO:668"^^xsd:string, "SNOMEDCT_US_2021_03_01:189878003"^^xsd:string, "UMLS_CUI:C0029463"^^xsd:string, "UMLS_CUI:C0206639"^^xsd:string ; oboInOwl:hasExactSynonym "Osteogenic sarcoma"@en, "Skeletal sarcoma"@en, "bone tissue neoplasm"@en, "osteoid sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3347"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080639 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ] ) ] . obo:DOID_3349 oboInOwl:hasExactSynonym "Osteogenic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3349"^^xsd:string ; a owl:Class ; rdfs:label "obsolete osteogenic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3350 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1630"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6587"^^xsd:string, "NCI:C7059"^^xsd:string, "UMLS_CUI:C1332517"^^xsd:string, "UMLS_CUI:C1334699"^^xsd:string ; oboInOwl:hasExactSynonym "benign miscellaneous mesenchymal tumor"@en, "mesenchymal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesenchymal cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0008019 ] ) ] . obo:DOID_3351 oboInOwl:hasDbXref "NCI:C6479"^^xsd:string, "UMLS_CUI:C1332574"^^xsd:string ; oboInOwl:hasExactSynonym "osseous hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone angioendothelial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080639 . obo:DOID_3352 oboInOwl:hasDbXref "NCI:C8563"^^xsd:string, "UMLS_CUI:C0740479"^^xsd:string ; oboInOwl:hasExactSynonym "malignant fibrous Histiocytoma of the bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3352"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant fibrous histiocytoma of bone"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ] . obo:DOID_3354 obo:IAO_0000115 "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker."^^xsd:string ; oboInOwl:hasExactSynonym "malignant fibroxanthoma"^^xsd:string, "malignant histiocytosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3354"^^xsd:string ; a owl:Class ; rdfs:label "fibrosarcoma of bone"^^xsd:string ; rdfs:subClassOf obo:DOID_0080639 . obo:DOID_3355 obo:IAO_0000115 "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:156"^^xsd:string, "DOID:3509"^^xsd:string ; oboInOwl:hasDbXref "GARD:2327"^^xsd:string, "ICDO:8810/3"^^xsd:string, "MESH:D005354"^^xsd:string, "MESH:D018218"^^xsd:string, "NCI:C3043"^^xsd:string, "NCI:C6605"^^xsd:string, "NCI:C7075"^^xsd:string, "SNOMEDCT_US_2021_03_01:443250000"^^xsd:string, "UMLS_CUI:C0016057"^^xsd:string, "UMLS_CUI:C0206643"^^xsd:string, "UMLS_CUI:C1336021"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrocytic tumor"@en, "fibrosarcoma of soft tissue"@en, "fibrous tissue neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3355"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_3356 oboInOwl:hasDbXref "NCI:C7780"^^xsd:string, "UMLS_CUI:C0278511"^^xsd:string ; oboInOwl:hasExactSynonym "localised Osteogenic sarcoma"@en, "localised osteosarcoma"@en, "localized Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3356"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "localized osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_3357 oboInOwl:hasDbXref "NCI:C8810"^^xsd:string, "SNOMEDCT_US_2021_03_01:404077005"^^xsd:string, "UMLS_CUI:C0855052"^^xsd:string ; oboInOwl:hasExactSynonym "extraskeletal Osteogenic sarcoma"@en, "extraskeletal osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3357"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extraosseous osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ] . obo:DOID_3359 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3359"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant extraskeletal cartilaginous and osseous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_336 oboInOwl:hasAlternativeId "DOID:13772"^^xsd:string, "DOID:14160"^^xsd:string, "DOID:14337"^^xsd:string, "DOID:9887"^^xsd:string ; oboInOwl:hasExactSynonym "Nontraumatic rupture of extensor tendons of hand and wrist"@en, "Nontraumatic rupture of flexor tendons of hand and wrist"@en, "Nontraumatic rupture of quadriceps tendon"@en, "Nontraumatic rupture of tendons of biceps"@en, "Nontraumatic rupture of tendons of biceps (long head)"@en, "Nontraumatic rupture of tendons of biceps, long head"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:336"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-traumatic tendon rupture"^^xsd:string ; owl:deprecated true . obo:DOID_3360 oboInOwl:hasDbXref "NCI:C6470"^^xsd:string, "SNOMEDCT_US_2021_03_01:431371000124105"^^xsd:string, "UMLS_CUI:C1334820"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3360"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multifocal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080639 . obo:DOID_3361 oboInOwl:hasDbXref "NCI:C6585"^^xsd:string, "UMLS_CUI:C1332986"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric osteosarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3361"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3362 oboInOwl:hasDbXref "GARD:6200"^^xsd:string, "ICD10CM:I25.41"^^xsd:string, "ICD9CM:414.11"^^xsd:string, "MESH:D003323"^^xsd:string, "NCI:C168176"^^xsd:string, "SNOMEDCT_US_2021_03_01:50570003"^^xsd:string, "UMLS_CUI:C0010051"^^xsd:string ; oboInOwl:hasExactSynonym "Aneurysm of coronary vessels"@en, "Aneurysmal lesion of coronary artery"@en, "Arteriovenous aneurysm of coronary vessels"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3362"^^xsd:string ; a owl:Class ; rdfs:label "coronary aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_9768 . obo:DOID_3365 oboInOwl:hasExactSynonym "relapsed Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3365"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent osteosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3367 oboInOwl:hasDbXref "NCI:C7154"^^xsd:string, "UMLS_CUI:C1332579"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3367"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_3368 obo:IAO_0000115 "A peripheral primitive neuroectodermal tumor that is located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4984"^^xsd:string, "DOID:6392"^^xsd:string ; oboInOwl:hasDbXref "NCI:C35871"^^xsd:string, "NCI:C4835"^^xsd:string, "NCI:C6623"^^xsd:string, "SNOMEDCT_US_2021_03_01:307608006"^^xsd:string, "UMLS_CUI:C0585474"^^xsd:string, "UMLS_CUI:C1333481"^^xsd:string, "UMLS_CUI:C1334406"^^xsd:string ; oboInOwl:hasExactSynonym "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor"@en, "bone Ewing sarcoma"@en, "bone localized Ewing sarcoma"@en, "bone localized Ewing's sarcoma"@en, "localized Skeletal Ewing's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Ewing's sarcoma of bone"@en, "bone Ewing's sarcoma"@en ; oboInOwl:id "DOID:3368"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Ewing sarcoma of bone"^^xsd:string ; rdfs:subClassOf obo:DOID_184, obo:DOID_3369, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_3369 obo:IAO_0000115 "A connective tissue cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050607"^^xsd:string, "DOID:4158"^^xsd:string, "DOID:4390"^^xsd:string, "DOID:4391"^^xsd:string, "DOID:4392"^^xsd:string, "DOID:4980"^^xsd:string ; oboInOwl:hasDbXref "GARD:6390"^^xsd:string, "MESH:C563168"^^xsd:string, "MESH:D012512"^^xsd:string, "MESH:D018241"^^xsd:string, "NCI:C27901"^^xsd:string, "NCI:C27903"^^xsd:string, "NCI:C4817"^^xsd:string, "NCI:C7542"^^xsd:string, "NCI:C7806"^^xsd:string, "NCI:C9341"^^xsd:string, "OMIM:612219"^^xsd:string, "SNOMEDCT_US_2021_03_01:134210007"^^xsd:string, "SNOMEDCT_US_2021_03_01:73676002"^^xsd:string, "SNOMEDCT_US_2021_03_01:76909002"^^xsd:string, "UMLS_CUI:C0553580"^^xsd:string, "UMLS_CUI:C0684337"^^xsd:string, "UMLS_CUI:C0796547"^^xsd:string, "UMLS_CUI:C0863029"^^xsd:string, "UMLS_CUI:C0877849"^^xsd:string, "UMLS_CUI:C1334408"^^xsd:string ; oboInOwl:hasExactSynonym "Ewing's family localized tumor"@en, "Ewing's sarcoma/peripheral primitive neuroectodermal tumor"@en, "Ewing's tumor"@en, "Ewings sarcoma"@en, "Ewings sarcoma-primitive neuroectodermal tumor"@en, "PNET of Thoracopulmonary Region"@en, "localized Ewing sarcoma"@en, "localized Ewing's sarcoma"@en, "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor"@en, "localized Ewing's tumor"@en, "localized peripheral primitive neuroectodermal tumor"@en, "peripheral primitive neuroectodermal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3369"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ewing sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_201, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_337 oboInOwl:hasDbXref "NCI:C5829"^^xsd:string, "SNOMEDCT_US_2021_03_01:126977003"^^xsd:string, "UMLS_CUI:C1263902"^^xsd:string ; oboInOwl:hasExactSynonym "XIth Cranial nerve tumors"@en, "neoplasm of accessory nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:337"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal accessory nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_3371 obo:IAO_0000115 "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3370"^^xsd:string ; oboInOwl:hasDbXref "GARD:6004"^^xsd:string, "GARD:6055"^^xsd:string, "MESH:D002813"^^xsd:string, "NCI:C2946"^^xsd:string, "NCI:C7155"^^xsd:string, "OMIM:215300"^^xsd:string, "SNOMEDCT_US_2021_03_01:443520009"^^xsd:string, "SNOMEDCT_US_2021_03_01:735679005"^^xsd:string, "UMLS_CUI:C0008479"^^xsd:string, "UMLS_CUI:C1335473"^^xsd:string ; oboInOwl:hasExactSynonym "Cartilaginous cancer"@en, "chondrosarcoma of bone"@en, "primary chondrosarcoma of the bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3371"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080639 . obo:DOID_3372 oboInOwl:hasDbXref "NCI:C4021"^^xsd:string, "SNOMEDCT_US_2021_03_01:76312009"^^xsd:string, "UMLS_CUI:C0279603"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroblastic osteosarcoma"@en, "chondrosarcomatous Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3372"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroblastic osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347 . obo:DOID_3373 oboInOwl:hasDbXref "ICDO:9192/3"^^xsd:string, "MESH:D018217"^^xsd:string, "NCI:C8969"^^xsd:string, "SNOMEDCT_US_2021_03_01:91242000"^^xsd:string, "UMLS_CUI:C0206642"^^xsd:string ; oboInOwl:hasExactSynonym "Parosteal Osteogenic sarcoma"@en, "juxtacortical osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3373"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parosteal osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3374 . obo:DOID_3374 oboInOwl:hasDbXref "NCI:C7134"^^xsd:string, "UMLS_CUI:C1332591"^^xsd:string ; oboInOwl:hasExactSynonym "Surface Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3374"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3376 . obo:DOID_3376 oboInOwl:hasAlternativeId "DOID:8580"^^xsd:string ; oboInOwl:hasDbXref "NCI:C53707"^^xsd:string, "SNOMEDCT_US_2021_03_01:307576001"^^xsd:string, "UMLS_CUI:C0585442"^^xsd:string ; oboInOwl:hasExactSynonym "Osteosarcoma of bone"@en, "primary Osteosarcoma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3376"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347 . obo:DOID_3377 oboInOwl:hasDbXref "NCI:C4023"^^xsd:string, "SNOMEDCT_US_2021_03_01:12302002"^^xsd:string, "UMLS_CUI:C0279622"^^xsd:string ; oboInOwl:hasExactSynonym "Round cell osteosarcoma"@en, "small cell Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3377"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small cell osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3378 . obo:DOID_3378 oboInOwl:hasExactSynonym "Medullary Osteosarcoma"@en, "Medullary osteosarcoma"@en, "conventional Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3378"^^xsd:string ; a owl:Class ; rdfs:label "conventional central osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3376 . obo:DOID_3379 oboInOwl:hasDbXref "NCI:C38157"^^xsd:string, "UMLS_CUI:C1334704"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "metachronous osteosarcoma of the bone"^^xsd:string ; rdfs:subClassOf obo:DOID_3347 . obo:DOID_338 obo:IAO_0000115 "A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003390"^^xsd:string, "NCI:C2963"^^xsd:string, "SNOMEDCT_US_2021_03_01:126966009"^^xsd:string, "UMLS_CUI:C0010267"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of cranial nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:338"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1192, obo:DOID_3620, obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001785 ] ) ] . obo:DOID_3381 oboInOwl:hasDbXref "NCI:C7598"^^xsd:string, "UMLS_CUI:C1332581"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of the bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liposarcoma of bone"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_3382 obo:IAO_0000115 "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3939"^^xsd:string ; oboInOwl:hasDbXref "GARD:6913"^^xsd:string, "ICDO:8850/3"^^xsd:string, "MESH:D008080"^^xsd:string, "NCI:C3194"^^xsd:string, "SNOMEDCT_US_2021_03_01:49430005"^^xsd:string, "UMLS_CUI:C0023827"^^xsd:string ; oboInOwl:hasExactSynonym "lipomatous cancer"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3382"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_3384 oboInOwl:hasExactSynonym "metastatic Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3384"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic osteosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3385 obo:IAO_0000115 "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016585"^^xsd:string, "NCI:C116973"^^xsd:string, "SNOMEDCT_US_2021_03_01:237092002"^^xsd:string, "UMLS_CUI:C0085166"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3385"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial vaginosis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_2170, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_3388 obo:IAO_0000115 "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K05.6"^^xsd:string, "MESH:D010510"^^xsd:string, "NCI:C63743"^^xsd:string, "SNOMEDCT_US_2021_03_01:196354003"^^xsd:string, "UMLS_CUI:C0031090"^^xsd:string ; oboInOwl:hasExactSynonym "Periodontal disease"@en, "disease of supporting structures of teeth"@en, "periodontium disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periodontal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_3389 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:3100"^^xsd:string, "MESH:D010214"^^xsd:string, "NCI:C84992"^^xsd:string, "OMIM:245000"^^xsd:string, "ORDO:678"^^xsd:string, "SNOMEDCT_US_2021_03_01:40158001"^^xsd:string, "UMLS_CUI:C0030360"^^xsd:string ; oboInOwl:hasExactSynonym "Papillon Lefevre syndrome"@en, "Papillon-Lefvre syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Papillon-Lefevre disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1091, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001091 ] . obo:DOID_339 oboInOwl:hasDbXref "ICD9CM:352.4"^^xsd:string, "MESH:D020436"^^xsd:string, "NCI:C26953"^^xsd:string, "SNOMEDCT_US_2021_03_01:84759007"^^xsd:string, "UMLS_CUI:C0152180"^^xsd:string ; oboInOwl:hasExactSynonym "Eleventh nerve disorder"@en, "disorder of 11th nerve"@en, "disorder of accessory [11th] nerve"@en, "disorder of accessory nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "accessory nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 ; owl:equivalentClass [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002019 ] . obo:DOID_3390 obo:IAO_0000115 "A keratosis characterized by abnormal thickening of the palms and the soles."^^xsd:string ; oboInOwl:hasDbXref "GARD:8167"^^xsd:string, "ICD10CM:L85.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:28596004"^^xsd:string, "UMLS_CUI:C0022596"^^xsd:string ; oboInOwl:hasExactSynonym "Keratosis palmaris et plantaris"@fr, "Palmoplantar Keratoderma"@en, "palmo-plantar keratodermas"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3390"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "palmoplantar keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_3393 obo:IAO_0000115 "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10506"^^xsd:string, "DOID:3363"^^xsd:string, "DOID:3394"^^xsd:string, "DOID:9420"^^xsd:string ; oboInOwl:hasDbXref "EFO:0001645"^^xsd:string, "ICD10CM:I20-I25"^^xsd:string, "ICD10CM:I25"^^xsd:string, "ICD10CM:I25.10"^^xsd:string, "ICD9CM:410-414.99"^^xsd:string, "ICD9CM:414.0"^^xsd:string, "ICD9CM:414.9"^^xsd:string, "MESH:D003324"^^xsd:string, "MESH:D003327"^^xsd:string, "MESH:D017202"^^xsd:string, "NCI:C35505"^^xsd:string, "NCI:C50625"^^xsd:string, "OMIM:300464"^^xsd:string, "OMIM:607339"^^xsd:string, "OMIM:608316"^^xsd:string, "OMIM:608318"^^xsd:string, "OMIM:608320"^^xsd:string, "OMIM:610947"^^xsd:string, "OMIM:611139"^^xsd:string, "OMIM:612030"^^xsd:string, "OMIM:614293"^^xsd:string, "SNOMEDCT_US_2021_03_01:194852007"^^xsd:string, "SNOMEDCT_US_2021_03_01:233822007"^^xsd:string, "SNOMEDCT_US_2021_03_01:41702007"^^xsd:string, "SNOMEDCT_US_2021_03_01:53741008"^^xsd:string, "UMLS_CUI:C0010054"^^xsd:string, "UMLS_CUI:C0010068"^^xsd:string, "UMLS_CUI:C0151744"^^xsd:string, "UMLS_CUI:C0264694"^^xsd:string ; oboInOwl:hasExactSynonym "CHD"@en, "Coronary disease"@en, "coronary arteriosclerosis"@en, "coronary heart disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3393"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "coronary artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050828 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001621 ] ) ] . obo:DOID_3401 oboInOwl:hasDbXref "ICD10CM:E22.2"^^xsd:string, "MESH:D007177"^^xsd:string, "NCI:C3988"^^xsd:string, "SNOMEDCT_US_2021_03_01:55004003"^^xsd:string, "UMLS_CUI:C0021141"^^xsd:string ; oboInOwl:hasExactSynonym "syndrome of Inappropriate Antidiuretic Hormone Secretion"@en, "syndrome of inappropriate secretion of ADH"@en, "syndrome of inappropriate secretion of antidiuretic hormone"@en, "syndrome of inappropriate vasopressin secretion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inappropriate ADH syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_53 ; skos:exactMatch "MESH:D007177"^^xsd:string . obo:DOID_3402 oboInOwl:hasExactSynonym "neoplasm associated Ectopic Hormone Secretion syndromes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3402"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ectopic hormone secretion syndrome associated with neoplasia"^^xsd:string ; owl:deprecated true . obo:DOID_3403 oboInOwl:hasExactSynonym "hypergammaglobulinaemia"@en, "hypergammaglobulinemia (finding)"@en, "hypergammaglobulinemia [dup] (finding)"@en, "hypergammaglobulinemia, NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3403"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypergammaglobulinemia"^^xsd:string ; owl:deprecated true . obo:DOID_3404 oboInOwl:hasExactSynonym "BMH"@en, "benign Monoclonal Gammopathy"@en, "benign monoclonal gammopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3404"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign monoclonal gammopathy"^^xsd:string ; owl:deprecated true . obo:DOID_3405 obo:IAO_0000115 "A lymphatic system disease that is characterized by an excessive number of histiocytes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3344"^^xsd:string ; oboInOwl:hasDbXref "MESH:D015614"^^xsd:string, "NCI:C3106"^^xsd:string, "SNOMEDCT_US_2021_03_01:60657004"^^xsd:string, "UMLS_CUI:C0019618"^^xsd:string ; oboInOwl:hasExactSynonym "Hand Schuller Christian disease"@en, "chronic Histiocytosis X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3405"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "histiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_3407 oboInOwl:hasDbXref "MESH:D002340"^^xsd:string, "NCI:C84476"^^xsd:string, "SNOMEDCT_US_2021_03_01:371160000"^^xsd:string, "UMLS_CUI:C0007273"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of carotid artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3407"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carotid artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_6713 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005396 ] ) ] . obo:DOID_341 obo:IAO_0000115 "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2868"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:443.81"^^xsd:string, "MESH:D001157"^^xsd:string, "SNOMEDCT_US_2021_03_01:195624006"^^xsd:string, "SNOMEDCT_US_2021_03_01:2929001"^^xsd:string, "UMLS_CUI:C0003838"^^xsd:string, "UMLS_CUI:C0031115"^^xsd:string ; oboInOwl:hasExactSynonym "arterial occlusive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:341"^^xsd:string ; a owl:Class ; rdfs:label "peripheral vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_3410 oboInOwl:hasDbXref "MESH:D002341"^^xsd:string, "SNOMEDCT_US_2021_03_01:195181000"^^xsd:string, "UMLS_CUI:C0007274"^^xsd:string ; oboInOwl:hasExactSynonym "Carotid artery thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3410"^^xsd:string ; a owl:Class ; rdfs:label "carotid artery thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3407, obo:DOID_4193 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005396 ] ) ] . obo:DOID_3412 obo:IAO_0000115 "A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3412"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious canine hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_3413 obo:IAO_0000115 "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome."^^xsd:string ; oboInOwl:hasDbXref "GARD:6968"^^xsd:string, "MESH:D008363"^^xsd:string, "NCI:C84548"^^xsd:string, "OMIM:248500"^^xsd:string, "SNOMEDCT_US_2021_03_01:65524005"^^xsd:string, "UMLS_CUI:C0024748"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha-D-mannosidosis"@en, "alpha-mannosidase deficiency"@en, "deficiency of alpha-mannosidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3413"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alpha-mannosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 ; skos:exactMatch "MESH:D008363"^^xsd:string . obo:DOID_3414 oboInOwl:hasExactSynonym "Mannosidosis"@en, "Mannosidosis (disorder)"@en, "mannosidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3414"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mannosidase deficiency disease"^^xsd:string ; owl:deprecated true . obo:DOID_3417 oboInOwl:hasDbXref "NCI:C5828"^^xsd:string, "SNOMEDCT_US_2021_03_01:126975006"^^xsd:string, "UMLS_CUI:C1263900"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of glossopharyngeal nerve"@en, "tumor of Glossopharyngeal nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3417"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glossopharyngeal nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_3418 obo:IAO_0000115 "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G52"^^xsd:string, "ICD9CM:352"^^xsd:string, "SNOMEDCT_US_2021_03_01:193098000"^^xsd:string, "UMLS_CUI:C0154730"^^xsd:string ; oboInOwl:hasExactSynonym "ninth cranial nerve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3418"^^xsd:string ; a owl:Class ; rdfs:label "glossopharyngeal nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001649 ] ) ] . obo:DOID_3419 oboInOwl:hasDbXref "MESH:D019574"^^xsd:string, "NCI:C4801"^^xsd:string, "SNOMEDCT_US_2021_03_01:126968005"^^xsd:string, "UMLS_CUI:C0524802"^^xsd:string ; oboInOwl:hasExactSynonym "Tumour of optic nerve"@en, "neoplasm of optic nerve"@en, "tumor of Second Cranial nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3419"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1891, obo:DOID_338 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ] ) ] . obo:DOID_342 oboInOwl:hasDbXref "ICD9CM:442.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:40136003"^^xsd:string, "UMLS_CUI:C0155746"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:342"^^xsd:string ; a owl:Class ; rdfs:label "subclavian artery aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001533 ] ) ] . obo:DOID_3420 oboInOwl:hasExactSynonym "tumor of the visual pathway"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3420"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neoplasm of visual pathway"^^xsd:string ; owl:deprecated true . obo:DOID_3421 oboInOwl:hasDbXref "NCI:C5825"^^xsd:string, "SNOMEDCT_US_2021_03_01:126970001"^^xsd:string, "UMLS_CUI:C1263896"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of trochlear nerve"@en, "tumor of Trochlear nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3421"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trochlear nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_3426 oboInOwl:hasDbXref "ICD10CM:H81.9"^^xsd:string, "MESH:D015837"^^xsd:string, "SNOMEDCT_US_2021_03_01:20425006"^^xsd:string, "UMLS_CUI:C0042594"^^xsd:string ; oboInOwl:hasExactSynonym "Vertigo, vestibular disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3426"^^xsd:string ; a owl:Class ; rdfs:label "vestibular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004681 ] ) ] . obo:DOID_3428 oboInOwl:hasDbXref "NCI:C27575"^^xsd:string, "UMLS_CUI:C1334150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Adding UMLS CUI for synonym."^^xsd:string ; rdfs:label "granulomatous myositis"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_3429 obo:IAO_0000115 "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:3896"^^xsd:string, "ICD10CM:G72.41"^^xsd:string, "ICD9CM:359.71"^^xsd:string, "MESH:D018979"^^xsd:string, "NCI:C84786"^^xsd:string, "OMIM:147421"^^xsd:string, "ORDO:611"^^xsd:string, "SNOMEDCT_US_2021_03_01:72315009"^^xsd:string, "UMLS_CUI:C0238190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3429"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "inclusion body myositis"^^xsd:string ; rdfs:subClassOf obo:DOID_633, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; skos:exactMatch "MESH:D018979"^^xsd:string . obo:DOID_3431 obo:IAO_0000115 "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27199"^^xsd:string, "UMLS_CUI:C0742115"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3431"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebritis"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_3436 obo:IAO_0000115 "A acute laryngitis which is caused by viral infection."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27305"^^xsd:string, "SNOMEDCT_US_2021_03_01:441551009"^^xsd:string, "UMLS_CUI:C0853195"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral laryngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_9396, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_3437 obo:IAO_0000115 "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007827"^^xsd:string, "NCI:C26811"^^xsd:string, "SNOMEDCT_US_2021_03_01:45913009"^^xsd:string, "UMLS_CUI:C0023067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_786 . obo:DOID_344 obo:IAO_0000115 "A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:344"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disease of biological process"^^xsd:string ; owl:deprecated true . obo:DOID_3443 obo:IAO_0000115 "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7073"^^xsd:string, "UMLS_CUI:C1368019"^^xsd:string ; oboInOwl:hasExactSynonym "Paget cell neoplasm"@en, "Paget's disease"@en, "Paget's disease of the breast"@en, "mammary Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3443"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mammary Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_3444 oboInOwl:hasDbXref "NCI:C7728"^^xsd:string, "UMLS_CUI:C0238330"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of scrotum"@en, "scrotum Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3444"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotum Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3445 . obo:DOID_3445 oboInOwl:hasDbXref "NCI:C6389"^^xsd:string, "UMLS_CUI:C1370468"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of scrotum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_518, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001300 ] . obo:DOID_3446 oboInOwl:hasDbXref "NCI:C5598"^^xsd:string, "UMLS_CUI:C1332274"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of anus"@en, "anal Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Paget's disease of the anus"@en ; oboInOwl:id "DOID:3446"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3447 . obo:DOID_3447 obo:IAO_0000115 "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5600"^^xsd:string, "SNOMEDCT_US_2021_03_01:423607006"^^xsd:string, "UMLS_CUI:C1332257"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the anus"@en ; oboInOwl:id "DOID:3447"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4908, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3448 oboInOwl:hasDbXref "NCI:C27817"^^xsd:string, "SNOMEDCT_US_2021_03_01:255104003"^^xsd:string, "UMLS_CUI:C0221286"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of penis"@en, "penis Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3448"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3449 . obo:DOID_3449 obo:IAO_0000115 "A penile cancer that is located_in the skin or tissues of the penis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9061"^^xsd:string, "SNOMEDCT_US_2021_03_01:372106005"^^xsd:string, "UMLS_CUI:C0853105"^^xsd:string ; oboInOwl:hasExactSynonym "Penile carcinoma"@en, "carcinoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3449"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11615, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] . obo:DOID_345 obo:IAO_0000115 "A female reproductive system disease that is located_in the uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N85.9"^^xsd:string, "ICD9CM:621.9"^^xsd:string, "MESH:D014591"^^xsd:string, "NCI:C26907"^^xsd:string, "SNOMEDCT_US_2021_03_01:237068005"^^xsd:string, "UMLS_CUI:C0042131"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:345"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] ) ] . obo:DOID_3450 obo:IAO_0000115 "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010145"^^xsd:string, "NCI:C3302"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of skin"@en, "cutaneous Paget disease"@en, "extramammary Paget's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 . obo:DOID_3451 obo:IAO_0000115 "A skin cancer that is located_in tissues of the skin and develops from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4914"^^xsd:string, "UMLS_CUI:C0699893"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3451"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4159, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_3454 obo:IAO_0000115 "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020520"^^xsd:string, "UMLS_CUI:C0751955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3454"^^xsd:string ; a owl:Class ; rdfs:label "brain infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_3456 obo:IAO_0000115 "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002579"^^xsd:string, "SNOMEDCT_US_2021_03_01:156011009"^^xsd:string, "UMLS_CUI:C0007869"^^xsd:string ; oboInOwl:hasExactSynonym "Erosion of cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3456"^^xsd:string ; a owl:Class ; rdfs:label "cervix erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_3457 obo:IAO_0000115 "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018275"^^xsd:string, "NCI:C3771"^^xsd:string, "SNOMEDCT_US_2021_03_01:89740008"^^xsd:string, "UMLS_CUI:C0206692"^^xsd:string ; oboInOwl:hasExactSynonym "Lobular carcinoma"@en, "Lobular carcinoma of breast"@en, "Lobular carcinoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3457"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "invasive lobular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050938 . obo:DOID_3458 obo:IAO_0000115 "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5214"^^xsd:string, "SNOMEDCT_US_2021_03_01:865954003"^^xsd:string, "UMLS_CUI:C0858252"^^xsd:string ; oboInOwl:hasExactSynonym "Mammary adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of breast"@en ; oboInOwl:id "DOID:3458"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3459, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3459 obo:IAO_0000115 "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000305"^^xsd:string, "MESH:D001943"^^xsd:string, "NCI:C4872"^^xsd:string, "SNOMEDCT_US_2021_03_01:154513000"^^xsd:string, "UMLS_CUI:C0678222"^^xsd:string ; oboInOwl:hasExactSynonym "Mammary carcinoma"@en, "carcinoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3459"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1612, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] . obo:DOID_3461 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3461"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3462 oboInOwl:hasAlternativeId "DOID:3474"^^xsd:string ; oboInOwl:hasExactSynonym "hamartoma"@en, "hamartoma (disorder)"@en, "hamartoma (morphologic abnormality)"@en, "hamartomatous polyp"@en, "hamartomatous polyp (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3462"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3463 obo:IAO_0000115 "A thoracic disease that is located_in the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N64.9"^^xsd:string, "ICD9CM:610-612.99"^^xsd:string, "MESH:D001941"^^xsd:string, "NCI:C26709"^^xsd:string, "SNOMEDCT_US_2021_03_01:79604008"^^xsd:string, "UMLS_CUI:C0006145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] . obo:DOID_3464 oboInOwl:hasExactSynonym "hamartoma of skin appendage (disorder)"@en, "skin Appendage hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3464"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of skin appendage"^^xsd:string ; owl:deprecated true . obo:DOID_3465 oboInOwl:hasExactSynonym "Congenital nevus of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3465"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital nevus of skin"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_3466 oboInOwl:hasExactSynonym "Cartilagenous hamartoma"@en, "cartilaginous hamartoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3466"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cartilaginous hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3467 oboInOwl:hasExactSynonym "mesenchymal hamartoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3467"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesenchymal hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3470 oboInOwl:hasExactSynonym "hamartoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3470"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of central nervous system"^^xsd:string ; owl:deprecated true . obo:DOID_3472 oboInOwl:hasExactSynonym "hamartoma of lung (disorder)"@en, "pulmonary hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3472"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_3473 oboInOwl:hasExactSynonym "hamartoma of brain (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3473"^^xsd:string ; a owl:Class ; rdfs:label "obsolete brain hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3476 oboInOwl:hasExactSynonym "Lipomatous hamartoma"@en, "Lipomatous hamartoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3476"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lipomatous hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_3478 oboInOwl:hasAlternativeId "DOID:6353"^^xsd:string ; oboInOwl:hasDbXref "MESH:D015811"^^xsd:string, "NCI:C3142"^^xsd:string, "NCI:C4554"^^xsd:string, "SNOMEDCT_US_2021_03_01:188264002"^^xsd:string, "SNOMEDCT_US_2021_03_01:231964001"^^xsd:string, "UMLS_CUI:C0022079"^^xsd:string, "UMLS_CUI:C0346372"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of the Iris"@en, "malignant tumor of iris"@en, "tumor of the Iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3478"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "iris cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_240, obo:DOID_3479 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001769 ] ) ] . obo:DOID_3479 obo:IAO_0000115 "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12754"^^xsd:string ; oboInOwl:hasDbXref "MESH:D014604"^^xsd:string, "NCI:C3436"^^xsd:string, "SNOMEDCT_US_2021_03_01:127000009"^^xsd:string, "UMLS_CUI:C3665670"^^xsd:string ; oboInOwl:hasExactSynonym "Malignant neoplasm of uveal tract", "Uveal tumor"@en, "malignant Uveal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3479"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uveal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2174, obo:DOID_3480 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] ) ] . obo:DOID_348 obo:IAO_0000115 "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.3"^^xsd:string, "ICD9CM:374.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:193944001"^^xsd:string, "UMLS_CUI:C0005742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:348"^^xsd:string ; a owl:Class ; rdfs:label "blepharochalasis"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_3480 obo:IAO_0000115 "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid."^^xsd:string ; oboInOwl:hasDbXref "GARD:8192"^^xsd:string, "MESH:D014603"^^xsd:string, "NCI:C26908"^^xsd:string, "SNOMEDCT_US_2021_03_01:95678007"^^xsd:string, "UMLS_CUI:C0042161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uveal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] ) ] . obo:DOID_3481 obo:IAO_0000115 "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A20.7"^^xsd:string, "ICD9CM:020.2"^^xsd:string, "MESH:D010930"^^xsd:string, "SNOMEDCT_US_2021_03_01:9012003"^^xsd:string, "UMLS_CUI:C0152936"^^xsd:string ; oboInOwl:hasExactSynonym "Septicemic plague"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3481"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "septicemic plague"^^xsd:string ; rdfs:subClassOf obo:DOID_1287, obo:DOID_3482, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000116 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] . obo:DOID_3482 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A20"^^xsd:string, "ICD9CM:020"^^xsd:string, "MESH:D010930"^^xsd:string, "NCI:C85015"^^xsd:string, "SNOMEDCT_US_2021_03_01:58750007"^^xsd:string, "UMLS_CUI:C0032064"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "plague"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_163159 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_3485 obo:IAO_0000115 "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3485"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Oxyurida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3486 oboInOwl:hasDbXref "GARD:13040"^^xsd:string, "MESH:D009335"^^xsd:string, "NCI:C34840"^^xsd:string, "SNOMEDCT_US_2021_03_01:201319007"^^xsd:string, "UMLS_CUI:C0027538"^^xsd:string ; oboInOwl:hasExactSynonym "Necrobiosis lipoidica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necrobiosis lipoidica"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_3487 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3487"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metabolic skin disease"^^xsd:string ; owl:deprecated true . obo:DOID_3488 obo:IAO_0000115 "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2472"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L03.90"^^xsd:string, "MESH:D002481"^^xsd:string, "NCI:C26715"^^xsd:string, "NCI:C34454"^^xsd:string, "SNOMEDCT_US_2021_03_01:267833003"^^xsd:string, "SNOMEDCT_US_2021_03_01:74276003"^^xsd:string, "UMLS_CUI:C0007642"^^xsd:string, "UMLS_CUI:C0007646"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] . obo:DOID_349 oboInOwl:hasDbXref "GARD:8616"^^xsd:string, "ICD10CM:D47.02"^^xsd:string, "MESH:D034721"^^xsd:string, "NCI:C9235"^^xsd:string, "SNOMEDCT_US_2021_03_01:123310005"^^xsd:string, "UMLS_CUI:C0221013"^^xsd:string ; oboInOwl:hasExactSynonym "SMCD - systemic mast cell disease"@en, "systemic tissue mast cell disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:349"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "systemic mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_350 . obo:DOID_3490 obo:IAO_0000115 "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms."^^xsd:string ; oboInOwl:hasDbXref "GARD:10955"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:D009634"^^xsd:string, "NCI:C34854"^^xsd:string, "OMIM:PS163950"^^xsd:string, "ORDO:648"^^xsd:string, "SNOMEDCT_US_2021_03_01:88327006"^^xsd:string, "UMLS_CUI:C0028326"^^xsd:string ; oboInOwl:hasExactSynonym "Turner's phenotype, karyotype normal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3490"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Noonan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_3491 obo:IAO_0000115 "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5448"^^xsd:string ; oboInOwl:hasDbXref "GARD:2540"^^xsd:string, "GARD:7831"^^xsd:string, "ICD10CM:Q96"^^xsd:string, "MESH:D014424"^^xsd:string, "NCI:C26900"^^xsd:string, "NCI:C34434"^^xsd:string, "SNOMEDCT_US_2021_03_01:38804009"^^xsd:string, "UMLS_CUI:C0041408"^^xsd:string, "UMLS_CUI:C1527168"^^xsd:string ; oboInOwl:hasExactSynonym "Bonnevie-Ullrich syndrome"@en, "Gonadal dysgenesis - Turner"@en, "Karyotype 45, X"@en, "Monosomy X"@en, "XO syndrome"@en, "monosomy X syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3491"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "No OMIM mapping, confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Turner syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_3492 obo:IAO_0000115 "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen."^^xsd:string ; oboInOwl:hasDbXref "GARD:7051"^^xsd:string, "ICD10CM:M35.1"^^xsd:string, "MESH:D008947"^^xsd:string, "NCI:C84892"^^xsd:string, "SNOMEDCT_US_2021_03_01:33110008"^^xsd:string, "UMLS_CUI:C0026272"^^xsd:string ; oboInOwl:hasExactSynonym "Connective tissue disease overlap syndrome"@en, "mixed collagen vascular disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3492"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed connective tissue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_854, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_3493 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018279"^^xsd:string, "NCI:C3774"^^xsd:string, "SNOMEDCT_US_2021_03_01:189701002"^^xsd:string, "UMLS_CUI:C0206696"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell adenocarcinoma"@en, "Signet ring carcinoma"@en, "Signet ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3493"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_3494 oboInOwl:hasDbXref "NCI:C5776"^^xsd:string, "UMLS_CUI:C0861859"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct Signet Ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3494"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct signet ring cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4897 . obo:DOID_3495 obo:IAO_0000115 "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7975"^^xsd:string, "UMLS_CUI:C0279659"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the extrahepatic bile duct"@en ; oboInOwl:id "DOID:3495"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4682, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_3497 oboInOwl:hasDbXref "NCI:C5720"^^xsd:string, "UMLS_CUI:C1335317"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell carcinoma of pancreas"@en, "pancreatic signet ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3497"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3498 . obo:DOID_3498 obo:IAO_0000115 "A pancreatic adenocarcinoma that derives_from pancreatic duct cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9120"^^xsd:string, "SNOMEDCT_US_2021_03_01:792907004"^^xsd:string, "UMLS_CUI:C1335302"^^xsd:string ; oboInOwl:hasExactSynonym "ductal adenocarcinoma of the pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3498"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic ductal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4074, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007329 ] . obo:DOID_3499 oboInOwl:hasDbXref "NCI:C5745"^^xsd:string, "UMLS_CUI:C1333758"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell carcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3499"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3500 . obo:DOID_350 oboInOwl:hasDbXref "GARD:6987"^^xsd:string, "ICD10CM:D47.09"^^xsd:string, "MESH:D008415"^^xsd:string, "NCI:C84269"^^xsd:string, "OMIM:154800"^^xsd:string, "SNOMEDCT_US_2021_03_01:78745000"^^xsd:string, "UMLS_CUI:C0024899"^^xsd:string ; oboInOwl:hasExactSynonym "mast cell hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9500 . obo:DOID_3500 obo:IAO_0000115 "A gallbladder carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9166"^^xsd:string, "UMLS_CUI:C0279651"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4948, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3501 oboInOwl:hasDbXref "NCI:C6656"^^xsd:string, "UMLS_CUI:C1332249"^^xsd:string ; oboInOwl:hasExactSynonym "ampullary signet ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampullary signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3502 . obo:DOID_3502 obo:IAO_0000115 "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6650"^^xsd:string, "UMLS_CUI:C1332243"^^xsd:string ; oboInOwl:hasExactSynonym "ampullary adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of ampulla of vater"@en ; oboInOwl:id "DOID:3502"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4932, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3503 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5175"^^xsd:string, "UMLS_CUI:C1335964"^^xsd:string ; oboInOwl:hasExactSynonym "Mammary Signet Ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "signet ring cell carcinoma of breast"@en ; oboInOwl:id "DOID:3503"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_3504 oboInOwl:hasDbXref "NCI:C5535"^^xsd:string, "UMLS_CUI:C1335520"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell carcinoma of prostate"@en, "prostate signet ring cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2526 . obo:DOID_3507 obo:IAO_0000115 "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly."^^xsd:string ; oboInOwl:hasDbXref "GARD:9569"^^xsd:string, "MESH:D018223"^^xsd:string, "OMIM:607907"^^xsd:string, "SNOMEDCT_US_2021_03_01:302844005"^^xsd:string, "UMLS_CUI:C0206647"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3507"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:comment "MESH:C538219 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "dermatofibrosarcoma protuberans"^^xsd:string ; rdfs:subClassOf obo:DOID_3355 . obo:DOID_3508 oboInOwl:hasDbXref "ICD9CM:593.3"^^xsd:string, "UMLS_CUI:C0156261"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3508"^^xsd:string ; a owl:Class ; rdfs:label "stricture or kinking of ureter"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_3512 oboInOwl:hasDbXref "GARD:8211"^^xsd:string, "MESH:D018319"^^xsd:string, "SNOMEDCT_US_2021_03_01:19897006"^^xsd:string, "UMLS_CUI:C0206729"^^xsd:string ; oboInOwl:hasExactSynonym "Neurosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3512"^^xsd:string ; a owl:Class ; rdfs:label "neurofibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_3516 oboInOwl:hasDbXref "NCI:C7809"^^xsd:string, "UMLS_CUI:C0278595"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3516"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3355, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3517 oboInOwl:hasDbXref "NCI:C9429"^^xsd:string, "UMLS_CUI:C1333156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3517"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3355 . obo:DOID_3519 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3519"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-metastatic fibrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3520 oboInOwl:hasDbXref "NCI:C8088"^^xsd:string, "UMLS_CUI:C0279981"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric fibrosarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3520"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3355, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3521 obo:IAO_0000115 "A sarcoma that affects children and is located_in the soft tissues of the body."^^xsd:string ; oboInOwl:hasExactSynonym "pediatric sarcoma of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3521"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood soft tissue sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_3522 obo:IAO_0000115 "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G46.3"^^xsd:string, "MESH:D014854"^^xsd:string, "NCI:C84807"^^xsd:string, "SNOMEDCT_US_2021_03_01:78569004"^^xsd:string, "UMLS_CUI:C0043019"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior inferior cerebellar artery syndrome"@en, "Wallenberg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lateral medullary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3523, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] . obo:DOID_3523 obo:IAO_0000115 "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020526"^^xsd:string, "SNOMEDCT_US_2021_03_01:95457000"^^xsd:string, "UMLS_CUI:C0521542"^^xsd:string ; oboInOwl:hasExactSynonym "Brainstem infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3523"^^xsd:string ; a owl:Class ; rdfs:label "brain stem infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3454 . obo:DOID_3525 oboInOwl:hasDbXref "MESH:D020244"^^xsd:string, "UMLS_CUI:C0740392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3525"^^xsd:string ; a owl:Class ; rdfs:label "middle cerebral artery infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3526 . obo:DOID_3526 obo:IAO_0000115 "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I63"^^xsd:string, "MESH:D002544"^^xsd:string, "NCI:C50486"^^xsd:string, "OMIM:601367"^^xsd:string, "SNOMEDCT_US_2021_03_01:195188006"^^xsd:string, "UMLS_CUI:C0007785"^^xsd:string ; oboInOwl:hasExactSynonym "CVA - Cerebral infarction"@en, "Cerebral infarct"@en, "Cerebral infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3526"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3454, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_3527 oboInOwl:hasDbXref "MESH:D002539"^^xsd:string, "UMLS_CUI:C0007774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3527"^^xsd:string ; a owl:Class ; rdfs:label "cerebral arterial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_13089 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_6713 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004449 ] ) ] . obo:DOID_3528 oboInOwl:hasDbXref "MESH:D020243"^^xsd:string, "UMLS_CUI:C0751843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3528"^^xsd:string ; a owl:Class ; rdfs:label "anterior cerebral artery infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3526 . obo:DOID_3529 obo:IAO_0000115 "A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6014"^^xsd:string, "ICD10CM:G71.29"^^xsd:string, "MESH:D020512"^^xsd:string, "NCI:C83010"^^xsd:string, "OMIM:117000"^^xsd:string, "ORDO:597"^^xsd:string, "SNOMEDCT_US_2021_03_01:43152001"^^xsd:string, "UMLS_CUI:C0751951"^^xsd:string ; oboInOwl:hasExactSynonym "central core myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3529"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "central core disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_422, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_3530 oboInOwl:hasDbXref "MESH:D034081"^^xsd:string, "UMLS_CUI:C1135993"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3530"^^xsd:string ; a owl:Class ; rdfs:label "chronic wasting disease"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_3532 obo:IAO_0000115 "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate."^^xsd:string ; oboInOwl:hasExactSynonym "Goat plague"@en, "Ovine rinderpest"@en, "PPR"@en, "Pseudorinderpest"@en, "Stomatitis-Pneumoenteritis Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3532"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peste des petits ruminants infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3533 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3533"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Morbillivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3534 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8214"^^xsd:string, "MESH:D020192"^^xsd:string, "NCI:C84804"^^xsd:string, "OMIM:254780"^^xsd:string, "SNOMEDCT_US_2021_03_01:230425004"^^xsd:string, "UMLS_CUI:C0751783"^^xsd:string ; oboInOwl:hasExactSynonym "Lafora Progressive Myoclonic Epilepsy"@en, "Lafora's disease"@en, "MYOCLONIC EPILEPSY OF LAFORA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3534"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Lafora disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_3535 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline."^^xsd:string ; oboInOwl:hasDbXref "GARD:3876"^^xsd:string, "MESH:D020194"^^xsd:string, "SNOMEDCT_US_2021_03_01:192847001"^^xsd:string, "UMLS_CUI:C0751785"^^xsd:string ; oboInOwl:hasExactSynonym "Unverricht - Lundborg disease"@en, "Unverricht's disease"@en, "Unverricht-Lundborg disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3535"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Unverricht-Lundborg syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_891 . obo:DOID_3540 obo:IAO_0000115 "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016545"^^xsd:string, "NCI:C3473"^^xsd:string, "SNOMEDCT_US_2021_03_01:254942002"^^xsd:string, "UMLS_CUI:C0085138"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of choroid plexus"@en, "tumor of the Choroid Plexus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "choroid plexus neoplasm"@en ; oboInOwl:id "DOID:3540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid plexus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3541 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001886 ] ) ] . obo:DOID_3541 obo:IAO_0000115 "A cerebrum cancer that is located_in the cerebral ventricles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10856"^^xsd:string ; oboInOwl:hasDbXref "GARD:6025"^^xsd:string, "ICD10CM:C71.5"^^xsd:string, "ICD9CM:191.5"^^xsd:string, "MESH:D002551"^^xsd:string, "NCI:C2937"^^xsd:string, "SNOMEDCT_US_2021_03_01:126958000"^^xsd:string, "SNOMEDCT_US_2021_03_01:363471001"^^xsd:string, "UMLS_CUI:C0007798"^^xsd:string, "UMLS_CUI:C0346906"^^xsd:string ; oboInOwl:hasExactSynonym "Intraventricular tumor of brain"@en, "cerebral ventricle neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3541"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral ventricle cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004086 ] ) ] . obo:DOID_3542 oboInOwl:hasDbXref "NCI:C8568"^^xsd:string, "UMLS_CUI:C0796430"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of the adult Choroid Plexus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adult choroid plexus tumor"@en ; oboInOwl:id "DOID:3542"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult choroid plexus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3540, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3544 oboInOwl:hasDbXref "NCI:C53686"^^xsd:string, "SNOMEDCT_US_2021_03_01:128904001"^^xsd:string, "UMLS_CUI:C1266176"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical Choroid Plexus papilloma"@en, "Atypical choroid plexus papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3544"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical choroid plexus papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_60007, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_3545 oboInOwl:hasDbXref "NCI:C42080"^^xsd:string, "UMLS_CUI:C0280623"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "childhood choroid plexus neoplasm"@en ; oboInOwl:id "DOID:3545"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood choroid plexus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3540, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3546 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3546"^^xsd:string ; a owl:Class ; rdfs:label "obsolete somatosensory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_355 obo:IAO_0000115 "A sarcoma that has_material_basis in mast cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C96.22"^^xsd:string, "ICD9CM:202.6"^^xsd:string, "MESH:D012515"^^xsd:string, "NCI:C9348"^^xsd:string, "SNOMEDCT_US_2021_03_01:118615008"^^xsd:string, "UMLS_CUI:C0036221"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:355"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mast-cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_3664, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] . obo:DOID_3557 oboInOwl:hasDbXref "GARD:7712"^^xsd:string, "MESH:D013478"^^xsd:string, "NCI:C85175"^^xsd:string, "SNOMEDCT_US_2021_03_01:24988007"^^xsd:string, "UMLS_CUI:C0038828"^^xsd:string ; oboInOwl:hasExactSynonym "Superior mesenteric artery syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3557"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "superior mesenteric artery syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3558, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001182 ] . obo:DOID_3558 oboInOwl:hasDbXref "ICD10CM:K31.5"^^xsd:string, "MESH:D004380"^^xsd:string, "NCI:C79548"^^xsd:string, "SNOMEDCT_US_2021_03_01:95532008"^^xsd:string, "UMLS_CUI:C0013292"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3558"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenal obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_4072 . obo:DOID_3559 obo:IAO_0000115 "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7488"^^xsd:string, "MESH:D011553"^^xsd:string, "NCI:C3345"^^xsd:string, "SNOMEDCT_US_2021_03_01:307601000"^^xsd:string, "UMLS_CUI:C0033822"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudomyxoma peritonei"@en, "mucinous Ascites"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3559"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudomyxoma peritonei"^^xsd:string ; rdfs:subClassOf obo:DOID_11239 . obo:DOID_356 oboInOwl:hasExactSynonym "Mast cell malignancy of intrathoracic lymph nodes (disorder)"@en, "malignant mast cell tumors involving intrathoracic lymph nodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:356"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intrathoracic lymph node mast cell malignancy"^^xsd:string ; owl:deprecated true . obo:DOID_3565 obo:IAO_0000115 "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1137"^^xsd:string, "DOID:3554"^^xsd:string, "DOID:3567"^^xsd:string, "DOID:4750"^^xsd:string ; oboInOwl:hasDbXref "GARD:7015"^^xsd:string, "ICD10CM:D32.9"^^xsd:string, "ICDO:M9530/3"^^xsd:string, "MESH:D008579"^^xsd:string, "NCI:C3230"^^xsd:string, "NCI:C6971"^^xsd:string, "SNOMEDCT_US_2021_03_01:269643009"^^xsd:string, "UMLS_CUI:C0025286"^^xsd:string, "UMLS_CUI:C1334698"^^xsd:string ; oboInOwl:hasExactSynonym "meningeal neoplasm"@en, "meningothelial cell tumor"@en, "neoplasm of the meninges"@en, "primary Meningeal tumor"@en, "supratentorial meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3565"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3620 . obo:DOID_3568 obo:IAO_0000115 "A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens."^^xsd:string ; oboInOwl:hasExactSynonym "Egtved Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3568"^^xsd:string ; a owl:Class ; rdfs:label "obsolete viral hemorrhagic septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_357 oboInOwl:hasExactSynonym "Mast cell malignancy of lymph nodes of axilla and upper limb (disorder)"@en, "malignant mast cell tumors involving lymph nodes of axilla and upper limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:357"^^xsd:string ; a owl:Class ; rdfs:label "obsolete upper limb lymph node mast cell malignancy"^^xsd:string ; owl:deprecated true . obo:DOID_3571 obo:IAO_0000115 "A hepatobiliary system cancer that is located_in the liver."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12300"^^xsd:string, "DOID:269"^^xsd:string, "DOID:7330"^^xsd:string, "DOID:915"^^xsd:string, "DOID:919"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C22.0"^^xsd:string, "ICD10CM:C22.9"^^xsd:string, "ICD9CM:155.0"^^xsd:string, "ICD9CM:155.2"^^xsd:string, "MESH:D008113"^^xsd:string, "NCI:C34803"^^xsd:string, "NCI:C7692"^^xsd:string, "SNOMEDCT_US_2021_03_01:126851005"^^xsd:string, "SNOMEDCT_US_2021_03_01:187771009"^^xsd:string, "SNOMEDCT_US_2021_03_01:93870000"^^xsd:string, "UMLS_CUI:C0023903"^^xsd:string, "UMLS_CUI:C0024620"^^xsd:string, "UMLS_CUI:C0345904"^^xsd:string, "UMLS_CUI:C0854795"^^xsd:string ; oboInOwl:hasExactSynonym "Ca liver - primary"@en, "Resectable malignant neoplasm of Liver"@en, "ca liver - primary"@en, "hepatic cancer"@en, "hepatic neoplasm"@en, "malignant hepato-biliary neoplasm"@en, "malignant neoplasm of liver"@en, "malignant neoplasm of liver, not specified as primary or secondary"@en, "malignant neoplasm of liver, primary"@en, "malignant tumor of liver"@en, "neoplasm of liver"@en, "non-resectable primary hepatic malignant neoplasm"@en, "primary liver cancer"@en, "primary malignant neoplasm of Liver"@en, "primary malignant neoplasm of liver"@en, "resectable malignant neoplasm of the liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3571"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "liver cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0080355, obo:DOID_170, obo:DOID_409 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_3572 oboInOwl:hasDbXref "MESH:D012851"^^xsd:string, "UMLS_CUI:C0037198"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3572"^^xsd:string ; a owl:Class ; rdfs:label "intracranial sinus thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4193 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0013411 ] ) ] . obo:DOID_3574 oboInOwl:hasDbXref "MESH:D020227"^^xsd:string, "SNOMEDCT_US_2021_03_01:21258007"^^xsd:string, "UMLS_CUI:C0270639"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombosis of lateral venous sinus"@en, "Thrombosis transverse sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3574"^^xsd:string ; a owl:Class ; rdfs:label "lateral sinus thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3572 . obo:DOID_3575 oboInOwl:hasDbXref "MESH:D020226"^^xsd:string, "SNOMEDCT_US_2021_03_01:89980009"^^xsd:string, "UMLS_CUI:C0238454"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombosis of cavernous venous sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3575"^^xsd:string ; a owl:Class ; rdfs:label "cavernous sinus thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3572 . obo:DOID_3576 oboInOwl:hasDbXref "MESH:D020225"^^xsd:string, "SNOMEDCT_US_2021_03_01:70607008"^^xsd:string, "UMLS_CUI:C0338575"^^xsd:string ; oboInOwl:hasExactSynonym "Thrombosis of superior longitudinal sinus"@en, "Thrombosis of superior sagittal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3576"^^xsd:string ; a owl:Class ; rdfs:label "sagittal sinus thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3572 . obo:DOID_3577 obo:IAO_0000115 "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050617"^^xsd:string ; oboInOwl:hasDbXref "MESH:D012707"^^xsd:string, "NCI:C39976"^^xsd:string, "SNOMEDCT_US_2021_03_01:89089007"^^xsd:string, "UMLS_CUI:C0036769"^^xsd:string ; oboInOwl:hasExactSynonym "tubular androblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Sertoli cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_192 . obo:DOID_3578 obo:IAO_0000115 "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39985"^^xsd:string, "SNOMEDCT_US_2021_03_01:716594002"^^xsd:string, "UMLS_CUI:C1518716"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3578"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian gonadoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112, obo:DOID_3301, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000021 ] . obo:DOID_3579 oboInOwl:hasDbXref "NCI:C39911"^^xsd:string, "UMLS_CUI:C1515283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3579"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular gonadoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_2519, obo:DOID_3301, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000015 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_3580 oboInOwl:hasExactSynonym "testicular mixed germ cell-Sex Cord tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3580"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular mixed germ cell-sex cord-stromal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3583 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3583"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete enterotoxemia"^^xsd:string ; owl:deprecated true . obo:DOID_3584 oboInOwl:hasExactSynonym "clostridial infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3584"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Clostridium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3586 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3586"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Puerperal pyrexia of unknown origin"^^xsd:string ; owl:deprecated true . obo:DOID_3587 obo:IAO_0000115 "A pancreatic carcinoma located_in the pancreatic duct."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10023"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C25.3"^^xsd:string, "ICD9CM:157.3"^^xsd:string, "MESH:D021441"^^xsd:string, "SNOMEDCT_US_2021_03_01:93939009"^^xsd:string, "UMLS_CUI:C0153461"^^xsd:string, "UMLS_CUI:C0887833"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of duct of Wirsung"@en, "pancreatic duct cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3587"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "pancreatic ductal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4905, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007329 ] . obo:DOID_3589 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3589"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_3590 oboInOwl:hasAlternativeId "DOID:14071"^^xsd:string, "DOID:3598"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O01"^^xsd:string, "ICD9CM:630"^^xsd:string, "MESH:D006828"^^xsd:string, "MESH:D031901"^^xsd:string, "NCI:C3110"^^xsd:string, "NCI:C4699"^^xsd:string, "NCI:C7887"^^xsd:string, "OMIM:231090"^^xsd:string, "SNOMEDCT_US_2021_03_01:156085008"^^xsd:string, "SNOMEDCT_US_2021_03_01:417475006"^^xsd:string, "UMLS_CUI:C0020217"^^xsd:string, "UMLS_CUI:C0278796"^^xsd:string, "UMLS_CUI:C1135868"^^xsd:string ; oboInOwl:hasExactSynonym "gestational trophoblastic neoplasia"@en, "hydatidiform mole"@en, "molar pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3590"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gestational trophoblastic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1380, obo:DOID_4085, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000351 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] . obo:DOID_3591 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3591"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Nonmetastatic Gestational Trophoblastic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_3593 oboInOwl:hasDbXref "NCI:C6900"^^xsd:string, "SNOMEDCT_US_2021_03_01:128767001"^^xsd:string, "UMLS_CUI:C1266159"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid trophoblastic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1324, obo:DOID_4085, obo:DOID_4362, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000351 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_3594 obo:IAO_0000115 "A placenta cancer that has_material_basis_in trophoblastic cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6059"^^xsd:string, "ICD10CM:C58"^^xsd:string, "ICDO:9100/3"^^xsd:string, "MESH:D002822"^^xsd:string, "NCI:C2948"^^xsd:string, "SNOMEDCT_US_2021_03_01:189444004"^^xsd:string, "UMLS_CUI:C0008497"^^xsd:string ; oboInOwl:hasExactSynonym "Chorioepithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2021 . obo:DOID_3596 obo:IAO_0000115 "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018245"^^xsd:string, "NCI:C3757"^^xsd:string, "SNOMEDCT_US_2021_03_01:75320001"^^xsd:string, "UMLS_CUI:C0206666"^^xsd:string ; oboInOwl:hasExactSynonym "Placental site trophoblastic tumor"@en, "Placental site trophoblastic tumour"@en, "Placental-Site Gestational Trophoblastic neoplasm"@en, "placental site trophoblastic tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3596"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placental site trophoblastic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3594 . obo:DOID_3597 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3597"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Good Prognosis metastatic Gestational Trophoblastic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_3602 obo:IAO_0000115 "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020258"^^xsd:string, "NCI:C27961"^^xsd:string, "SNOMEDCT_US_2021_03_01:19466003"^^xsd:string, "UMLS_CUI:C0235032"^^xsd:string ; oboInOwl:hasExactSynonym "neurotoxicity"@en, "neurotoxicity syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "toxic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_3603 obo:IAO_0000115 "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018282"^^xsd:string, "NCI:C3776"^^xsd:string, "SNOMEDCT_US_2021_03_01:79143006"^^xsd:string, "UMLS_CUI:C0206699"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudomucinous cystadenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3111 . obo:DOID_3604 obo:IAO_0000115 "An ovarian cystadenocarcinoma that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4026"^^xsd:string, "SNOMEDCT_US_2021_03_01:254851009"^^xsd:string, "UMLS_CUI:C0279665"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian mucinous cystadenocarcinoma"@en, "mucinous cystadenocarcinoma of ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3604"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3605, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_3605 obo:IAO_0000115 "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5228"^^xsd:string, "SNOMEDCT_US_2021_03_01:314191009"^^xsd:string, "UMLS_CUI:C1096638"^^xsd:string ; oboInOwl:hasExactSynonym "cystadenocarcinoma of ovary"@en, "cystadenocarcinoma of the Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3605"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3713 . obo:DOID_3606 obo:IAO_0000115 "An ovary adenocarcinoma that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5243"^^xsd:string, "UMLS_CUI:C1335167"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3713, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3607 oboInOwl:hasDbXref "NCI:C5511"^^xsd:string, "UMLS_CUI:C1096639"^^xsd:string ; oboInOwl:hasExactSynonym "Colloidal cystadenocarcinoma of the appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3608, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_3608 obo:IAO_0000115 "An appendix carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7718"^^xsd:string, "SNOMEDCT_US_2021_03_01:413445002"^^xsd:string, "UMLS_CUI:C0238003"^^xsd:string ; oboInOwl:hasExactSynonym "Appendiceal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3608"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4902, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3609 obo:IAO_0000115 "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40354"^^xsd:string, "UMLS_CUI:C1511318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3609"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3610, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_361 obo:IAO_0000115 "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27623"^^xsd:string, "SNOMEDCT_US_2021_03_01:61640006"^^xsd:string, "UMLS_CUI:C0269107"^^xsd:string ; oboInOwl:hasExactSynonym "Endometriosis of cervix"@en, "cervical Endometriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix endometriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_3610 obo:IAO_0000115 "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9131"^^xsd:string, "SNOMEDCT_US_2021_03_01:444712000"^^xsd:string, "UMLS_CUI:C1334807"^^xsd:string ; oboInOwl:hasExactSynonym "Invasive mucinous breast carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mucinous carcinoma of breast"@en ; oboInOwl:id "DOID:3610"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast mucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_3611 oboInOwl:hasDbXref "MESH:D015882"^^xsd:string, "SNOMEDCT_US_2021_03_01:231986000"^^xsd:string, "UMLS_CUI:C0035319"^^xsd:string ; oboInOwl:hasExactSynonym "acute retinal necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3611"^^xsd:string ; a owl:Class ; rdfs:label "acute retinal necrosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3612 . obo:DOID_3612 oboInOwl:hasDbXref "ICD10CM:H30.9"^^xsd:string, "MESH:D012173"^^xsd:string, "NCI:C115993"^^xsd:string, "SNOMEDCT_US_2021_03_01:35426003"^^xsd:string, "UMLS_CUI:C0035333"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3612"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_3613 oboInOwl:hasDbXref "GARD:5984"^^xsd:string, "MESH:D017825"^^xsd:string, "NCI:C84611"^^xsd:string, "OMIM:271900"^^xsd:string, "SNOMEDCT_US_2021_03_01:80544005"^^xsd:string, "UMLS_CUI:C0206307"^^xsd:string ; oboInOwl:hasExactSynonym "CANAVAN-VAN BOGAERT-BERTRAND DISEASE"@en, "Spongy degeneration of central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3613"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Canavan disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_3614 obo:IAO_0000115 "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)."^^xsd:string ; oboInOwl:hasDbXref "GARD:10771"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "MESH:D017436"^^xsd:string, "NCI:C75479"^^xsd:string, "ORDO:478"^^xsd:string, "SNOMEDCT_US_2021_03_01:190559001"^^xsd:string, "UMLS_CUI:C0162809"^^xsd:string ; oboInOwl:hasExactSynonym "Hypogonadism with anosmia"@en, "Kallman syndrome"@en, "Kallman's syndrome"@en, "familial hypogonadism with anosmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3614"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kallmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0090070 . obo:DOID_3615 obo:IAO_0000115 "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7449"^^xsd:string, "SNOMEDCT_US_2021_03_01:24045002"^^xsd:string, "UMLS_CUI:C1305256"^^xsd:string ; oboInOwl:hasExactSynonym "Angiolipoma, infiltrating"@en, "Infiltrating angiolipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating angiolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3616 . obo:DOID_3616 obo:IAO_0000115 "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018206"^^xsd:string, "NCI:C3733"^^xsd:string, "SNOMEDCT_US_2021_03_01:404057003"^^xsd:string, "UMLS_CUI:C0206632"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 ; skos:exactMatch "MESH:D018206"^^xsd:string . obo:DOID_3617 oboInOwl:hasDbXref "NCI:C5424"^^xsd:string, "UMLS_CUI:C1333416"^^xsd:string ; oboInOwl:hasExactSynonym "Angiolipoma of Extradural Spinal canal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3617"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidural spinal canal angiolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_319, obo:DOID_3616, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_3618 oboInOwl:hasDbXref "MESH:D015174"^^xsd:string, "NCI:C3019"^^xsd:string, "UMLS_CUI:C0014536"^^xsd:string ; oboInOwl:hasExactSynonym "Extradural tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3618"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidural spinal canal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_3620 obo:IAO_0000115 "A nervous system cancer that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060093"^^xsd:string, "DOID:1318"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000326"^^xsd:string, "ICD10CM:C72.9"^^xsd:string, "MESH:D016543"^^xsd:string, "NCI:C4627"^^xsd:string, "NCI:C9293"^^xsd:string, "SNOMEDCT_US_2021_03_01:126951006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93744007"^^xsd:string, "UMLS_CUI:C0085136"^^xsd:string, "UMLS_CUI:C0348374"^^xsd:string ; oboInOwl:hasExactSynonym "CNS neoplasm"@en, "central nervous system tumor"@en, "central nervous system tumors"@en, "malignant neoplasm of central nervous system"@en, "malignant tumor of CNS"@en, "neoplasm of central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3620"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3093, obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_3621 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3621"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system neuroepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3627 obo:IAO_0000115 "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11138"^^xsd:string, "DOID:7682"^^xsd:string, "DOID:7692"^^xsd:string, "DOID:7703"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I71.1"^^xsd:string, "ICD10CM:I71.3"^^xsd:string, "ICD10CM:I71.5"^^xsd:string, "ICD10CM:I71.8"^^xsd:string, "ICD10CM:I71.9"^^xsd:string, "ICD9CM:441.1"^^xsd:string, "ICD9CM:441.3"^^xsd:string, "ICD9CM:441.5"^^xsd:string, "ICD9CM:441.6"^^xsd:string, "MESH:D001014"^^xsd:string, "MESH:D001019"^^xsd:string, "NCI:C26697"^^xsd:string, "NCI:C27046"^^xsd:string, "NCI:C27198"^^xsd:string, "NCI:C27299"^^xsd:string, "SNOMEDCT_US_2021_03_01:14336007"^^xsd:string, "SNOMEDCT_US_2021_03_01:155419006"^^xsd:string, "SNOMEDCT_US_2021_03_01:195265003"^^xsd:string, "SNOMEDCT_US_2021_03_01:34365005"^^xsd:string, "SNOMEDCT_US_2021_03_01:73067008"^^xsd:string, "UMLS_CUI:C0003486"^^xsd:string, "UMLS_CUI:C0265010"^^xsd:string, "UMLS_CUI:C0265012"^^xsd:string, "UMLS_CUI:C0741160"^^xsd:string, "UMLS_CUI:C1305122"^^xsd:string ; oboInOwl:hasExactSynonym "ruptured aortic aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3627"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aortic aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_520 ; skos:exactMatch "MESH:D001014"^^xsd:string, "MESH:D001019"^^xsd:string . obo:DOID_363 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the uterus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4363"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C55"^^xsd:string, "ICD9CM:179"^^xsd:string, "MESH:D014594"^^xsd:string, "NCI:C3435"^^xsd:string, "NCI:C3552"^^xsd:string, "SNOMEDCT_US_2021_03_01:126908007"^^xsd:string, "SNOMEDCT_US_2021_03_01:371973000"^^xsd:string, "UMLS_CUI:C0042138"^^xsd:string, "UMLS_CUI:C0153567"^^xsd:string ; oboInOwl:hasExactSynonym "CA - cancer of uterus"@en, "Tumour of uterus"@en, "malignant neoplasm of uterus"@en, "malignant uterine tumor"@en, "neoplasm of uterus"@en, "uterine tumor"@en, "uterus neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:363"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "uterine cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] ) ] . obo:DOID_3633 obo:IAO_0000115 "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism."^^xsd:string ; oboInOwl:hasDbXref "MESH:D044905"^^xsd:string, "NCI:C84596"^^xsd:string, "OMIM:248510"^^xsd:string, "SNOMEDCT_US_2021_03_01:238047006"^^xsd:string, "UMLS_CUI:C4048196"^^xsd:string ; oboInOwl:hasExactSynonym "Beta-D-mannosidosis"@en, "beta-mannosidase deficiency"@en, "lysosomal beta-mannosidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "beta-mannosidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_3635 obo:IAO_0000115 "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)."^^xsd:string ; oboInOwl:hasDbXref "GARD:11902"^^xsd:string, "MESH:D020294"^^xsd:string, "NCI:C84647"^^xsd:string, "OMIM:PS601462"^^xsd:string, "ORDO:590"^^xsd:string, "SNOMEDCT_US_2021_03_01:230672006"^^xsd:string, "UMLS_CUI:C0751882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3635"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "congenital myasthenic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_439, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_3636 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3636"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Desulfovibrionaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3637 oboInOwl:hasDbXref "NCI:C9234"^^xsd:string, "UMLS_CUI:C1134515"^^xsd:string ; oboInOwl:hasExactSynonym "childhood Spinal Cord neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3637"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood spinal cord tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5612, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3639 oboInOwl:hasDbXref "NCI:C5428"^^xsd:string, "UMLS_CUI:C1334259"^^xsd:string ; oboInOwl:hasExactSynonym "Intramedullary Spinal teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord intramedullary teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_364 oboInOwl:hasExactSynonym "Nontraumatic rupture of bladder (disorder) [Ambiguous]"@en, "Rupture of bladder, nontraumatic"@en, "spontaneous rupture of bladder (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:364"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spontaneous rupture of bladder"^^xsd:string ; owl:deprecated true . obo:DOID_3640 obo:IAO_0000115 "A teratoma that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5441"^^xsd:string, "UMLS_CUI:C1332895"^^xsd:string ; oboInOwl:hasExactSynonym "CNS teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3640"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_3641 oboInOwl:hasDbXref "NCI:C5443"^^xsd:string, "UMLS_CUI:C1333153"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Conus Medullaris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conus medullaris neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_3642 oboInOwl:hasDbXref "GARD:6331"^^xsd:string, "MESH:D004652"^^xsd:string, "NCI:C84686"^^xsd:string, "SNOMEDCT_US_2021_03_01:393569006"^^xsd:string, "UMLS_CUI:C0014008"^^xsd:string ; oboInOwl:hasExactSynonym "Empty sella syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3642"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "empty sella syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_53 ; skos:exactMatch "MESH:D004652"^^xsd:string . obo:DOID_3643 oboInOwl:hasDbXref "NCI:C4944"^^xsd:string, "UMLS_CUI:C0748616"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Sella Turcica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sella turcica neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3842 . obo:DOID_3644 oboInOwl:hasDbXref "MESH:D007029"^^xsd:string, "NCI:C3129"^^xsd:string, "SNOMEDCT_US_2021_03_01:254968009"^^xsd:string, "UMLS_CUI:C0020659"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of the Hypothalamus"@en, "tumor of hypothalamus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3644"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypothalamic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3843 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_6098 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_3646 oboInOwl:hasDbXref "NCI:C27066"^^xsd:string, "SNOMEDCT_US_2021_03_01:59572000"^^xsd:string, "UMLS_CUI:C0271558"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3646"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necrosis of pituitary"^^xsd:string ; rdfs:subClassOf obo:DOID_53 . obo:DOID_3648 oboInOwl:hasExactSynonym "Inborn error of pyruvate metabolism (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3648"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inborn errors pyruvate metabolism"^^xsd:string ; owl:deprecated true . obo:DOID_3649 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex."^^xsd:string ; oboInOwl:hasDbXref "GARD:4620"^^xsd:string, "GARD:7513"^^xsd:string, "ICD10CM:E74.4"^^xsd:string, "MESH:D015325"^^xsd:string, "NCI:C103968"^^xsd:string, "OMIM:245348"^^xsd:string, "OMIM:245349"^^xsd:string, "OMIM:312170"^^xsd:string, "OMIM:608782"^^xsd:string, "OMIM:614111"^^xsd:string, "ORDO:79243"^^xsd:string, "SNOMEDCT_US_2021_03_01:46683007"^^xsd:string, "UMLS_CUI:C0034345"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of pyruvic dehydrogenase"@en, "pyruvate dehydrogenase complex deficiency disease"@en, "pyruvate dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3649"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "pyruvate decarboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_365 obo:IAO_0000115 "A urinary system disease that is located_in the bladder."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N32.9"^^xsd:string, "ICD9CM:596.9"^^xsd:string, "MESH:D001745"^^xsd:string, "NCI:C2900"^^xsd:string, "SNOMEDCT_US_2021_03_01:42643001"^^xsd:string, "UMLS_CUI:C0005686"^^xsd:string ; oboInOwl:hasExactSynonym "Urinary Bladder Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:365"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder disease"^^xsd:string ; rdfs:subClassOf obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_3650 obo:IAO_0000115 "A metabolic acidosis characterized by buildup of lactate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E87.2"^^xsd:string, "MESH:D000140"^^xsd:string, "NCI:C98969"^^xsd:string, "SNOMEDCT_US_2021_03_01:91273001"^^xsd:string, "UMLS_CUI:C0001125"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3650"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lactic acidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050758 . obo:DOID_3651 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.4"^^xsd:string, "MESH:D015324"^^xsd:string, "NCI:C85040"^^xsd:string, "OMIM:266150"^^xsd:string, "SNOMEDCT_US_2021_03_01:87694001"^^xsd:string, "UMLS_CUI:C0034341"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of pyruvic carboxylase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3651"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pyruvate carboxylase deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_3652 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity."^^xsd:string ; oboInOwl:hasDbXref "GARD:6877"^^xsd:string, "ICD10CM:G31.82"^^xsd:string, "MESH:D007888"^^xsd:string, "NCI:C84814"^^xsd:string, "OMIM:256000"^^xsd:string, "ORDO:506"^^xsd:string, "SNOMEDCT_US_2021_03_01:29570005"^^xsd:string, "UMLS_CUI:C0023264"^^xsd:string ; oboInOwl:hasExactSynonym "Infantile necrotizing encephalomyelopathy"@en, "Leigh syndrome"@en, "juvenile subacute necrotizing encephalomyelopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "subacute necrotizing encephalomyelopathy"@en ; oboInOwl:id "DOID:3652"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Leigh disease"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_3653 oboInOwl:hasExactSynonym "laboratory infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3653"^^xsd:string ; a owl:Class ; rdfs:label "obsolete laboratory infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3659 obo:IAO_0000115 "A lysosomal storage disease characterized by increased sialic acid in the urine."^^xsd:string ; oboInOwl:hasDbXref "MESH:D029461"^^xsd:string, "NCI:C85067"^^xsd:string, "OMIM:269921"^^xsd:string, "OMIM:604369"^^xsd:string, "SNOMEDCT_US_2021_03_01:238051008"^^xsd:string, "UMLS_CUI:C0342853"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3659"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "sialuria"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_366 oboInOwl:hasDbXref "NCI:C5121"^^xsd:string, "SNOMEDCT_US_2021_03_01:126967000"^^xsd:string, "UMLS_CUI:C0346319"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of olfactory nerve"@en, "tumor of Olfactory nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:366"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "olfactory nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2815 . obo:DOID_3660 obo:IAO_0000115 "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D021182"^^xsd:string, "SNOMEDCT_US_2021_03_01:420174000"^^xsd:string, "UMLS_CUI:C0949570"^^xsd:string ; oboInOwl:hasExactSynonym "allergy to wheat"@en, "wheat allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3660"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "wheat allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_3663 oboInOwl:hasDbXref "GARD:7842"^^xsd:string, "ICD10CM:D47.01"^^xsd:string, "MESH:D034701"^^xsd:string, "NCI:C7137"^^xsd:string, "SNOMEDCT_US_2021_03_01:703827008"^^xsd:string, "UMLS_CUI:C1136033"^^xsd:string ; oboInOwl:hasExactSynonym "CM"@en, "Cutaneous mastocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3663"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_350, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_350 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_3664 obo:IAO_0000115 "A hematologic cancer that has_material_basis_in mast cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.09"^^xsd:string, "NCI:C9295"^^xsd:string, "SNOMEDCT_US_2021_03_01:127581004"^^xsd:string, "UMLS_CUI:C0334664"^^xsd:string ; oboInOwl:hasExactSynonym "Mast cell Proliferative disease"@en, "mast cell tumor"@en, "mastocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3664"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mast cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687, obo:DOID_2531 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] ) ] . obo:DOID_3665 oboInOwl:hasDbXref "GARD:12686"^^xsd:string, "ICD10CM:D47.01"^^xsd:string, "MESH:D034701"^^xsd:string, "NCI:C3218"^^xsd:string, "SNOMEDCT_US_2021_03_01:703826004"^^xsd:string, "UMLS_CUI:C0024901"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse Cutaneous Mastocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3665"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse cutaneous mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3663 . obo:DOID_3666 oboInOwl:hasExactSynonym "Solitary Mastocytoma of skin"@en, "Solitary mastocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3666"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous solitary mastocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3664 . obo:DOID_3667 obo:IAO_0000115 "A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3667"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cardiovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3668 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3668"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Picornaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3669 oboInOwl:hasDbXref "ICD10CM:I73.9"^^xsd:string, "MESH:D007383"^^xsd:string, "SNOMEDCT_US_2021_03_01:195312007"^^xsd:string, "UMLS_CUI:C0021775"^^xsd:string ; oboInOwl:hasExactSynonym "Charcot's syndrome"@en, "Intermittent claudication"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3669"^^xsd:string ; a owl:Class ; rdfs:label "intermittent claudication"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 . obo:DOID_367 obo:IAO_0000115 "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G52.0"^^xsd:string, "ICD9CM:352.0"^^xsd:string, "MESH:D020431"^^xsd:string, "NCI:C27210"^^xsd:string, "SNOMEDCT_US_2021_03_01:68982002"^^xsd:string, "UMLS_CUI:C0751937"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of 1st nerve"@en, "disorder of olfactory [1st] nerve"@en, "disorder of olfactory nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:367"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "olfactory nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001579 ] ) ] . obo:DOID_3671 oboInOwl:hasDbXref "MESH:D010497"^^xsd:string, "SNOMEDCT_US_2021_03_01:22240003"^^xsd:string, "UMLS_CUI:C0031055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3671"^^xsd:string ; a owl:Class ; rdfs:label "pericoronitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1483 . obo:DOID_3672 obo:IAO_0000115 "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:7572"^^xsd:string, "MESH:D018335"^^xsd:string, "NCI:C3808"^^xsd:string, "SNOMEDCT_US_2021_03_01:83118000"^^xsd:string, "UMLS_CUI:C0206743"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdoid sarcoma"@en, "malignant rhabdoid tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "rhabdoid tumor"@en ; oboInOwl:id "DOID:3672"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "rhabdoid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3675, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] ; skos:exactMatch "MESH:D018335"^^xsd:string . obo:DOID_3674 obo:IAO_0000115 "A embryonal cancer that is located in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8715"^^xsd:string, "UMLS_CUI:C0854917"^^xsd:string ; oboInOwl:hasExactSynonym "renal Rhabdoid tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "kidney rhabdoid tumor"@en ; oboInOwl:id "DOID:3674"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney rhabdoid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3672, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3675 oboInOwl:hasDbXref "NCI:C6563"^^xsd:string, "UMLS_CUI:C1333003"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric renal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3675"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood kidney cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_263, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3677 obo:IAO_0000115 "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016726"^^xsd:string, "SNOMEDCT_US_2021_03_01:707373004"^^xsd:string, "UMLS_CUI:C0085269"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphocytic pseudotumor of lung"@en, "Sclerosing hemangiocytoma of lung"@en, "granuloma, plasma cell, pulmonary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3677"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary plasma cell granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_368 obo:IAO_0000115 "A supratentorial cancer that is located_in the cerebrum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:912"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:191.8"^^xsd:string, "NCI:C4874"^^xsd:string, "SNOMEDCT_US_2021_03_01:126953009"^^xsd:string, "SNOMEDCT_US_2021_03_01:188300006"^^xsd:string, "UMLS_CUI:C0153642"^^xsd:string, "UMLS_CUI:C1263885"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral cancer"@en, "neoplasm of cerebrum"@en, "tumor of Cerebrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:368"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebrum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1659 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] ) ] . obo:DOID_3680 oboInOwl:hasAlternativeId "DOID:8722"^^xsd:string, "DOID:8862"^^xsd:string, "DOID:8894"^^xsd:string, "DOID:8952"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Oral cavity neoplasm"@en, "malignant Oral neoplasm"@en, "malignant Pharyngeal tumor"@en, "malignant neoplasm of mouth"@en, "malignant neoplasm of mouth NOS (disorder)"@en, "malignant neoplasm of mouth, unspecified"@en, "malignant neoplasm of oral cavity NOS"@en, "malignant neoplasm of other specified mouth parts (disorder)"@en, "malignant neoplasm of other specified parts of mouth"@en, "malignant neoplasm of palate NOS (disorder)"@en, "malignant neoplasm of palate unspecified (disorder)"@en, "malignant neoplasm of palate, unspecified"@en, "malignant neoplasm of pharynx"@en, "malignant neoplasm of pharynx unspecified (disorder)"@en, "malignant neoplasm of pharynx, NOS"@en, "malignant neoplasm of pharynx, unspecified"@en, "malignant neoplasm of roof of mouth"@en, "malignant tumor of oral cavity (disorder)"@en, "malignant tumor of palate (disorder)"@en, "malignant tumor of pharynx (disorder)"@en, "malignant tumor of the Palate"@en, "malignant tumour of mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of lip, oral cavity and pharynx"^^xsd:string ; owl:deprecated true . obo:DOID_3683 oboInOwl:hasDbXref "MESH:D008175"^^xsd:string, "NCI:C3200"^^xsd:string, "SNOMEDCT_US_2021_03_01:126713003"^^xsd:string, "UMLS_CUI:C0024121"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_3686 oboInOwl:hasExactSynonym "Helicobacter Pylori Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3686"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Helicobacter pylori infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3687 obo:IAO_0000115 "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.41"^^xsd:string, "MESH:D017241"^^xsd:string, "NCI:C84885"^^xsd:string, "OMIM:540000"^^xsd:string, "SNOMEDCT_US_2021_03_01:39925003"^^xsd:string, "UMLS_CUI:C0162671"^^xsd:string ; oboInOwl:hasExactSynonym "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3687"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "MELAS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_890, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000329 ] . obo:DOID_3688 oboInOwl:hasDbXref "NCI:C27744"^^xsd:string, "UMLS_CUI:C1335437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3688"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plexopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_3689 oboInOwl:hasDbXref "ICD10CM:G54.5"^^xsd:string, "MESH:D020968"^^xsd:string, "NCI:C84600"^^xsd:string, "SNOMEDCT_US_2021_03_01:26609002"^^xsd:string, "UMLS_CUI:C0221759"^^xsd:string ; oboInOwl:hasExactSynonym "Brachial neuritis"@en, "Parsonage-Aldren-Turner syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3689"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brachial plexus neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1803, obo:DOID_3690 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1803 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001814 ] ) ] . obo:DOID_369 oboInOwl:hasDbXref "GARD:2197"^^xsd:string, "MESH:D018304"^^xsd:string, "NCI:C3789"^^xsd:string, "SNOMEDCT_US_2021_03_01:76060004"^^xsd:string, "UMLS_CUI:C0206717"^^xsd:string ; oboInOwl:hasExactSynonym "Asthesioneuroblastoma"@en, "Esthesioneuroblastoma"@en, "Esthesioneuroepithelioma"@en, "Olfactory Esthesioneuroblastoma"@en, "paranasal sinus Olfactory neuroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:369"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "olfactory neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_366 . obo:DOID_3690 oboInOwl:hasDbXref "ICD10CM:G54.0"^^xsd:string, "MESH:D020516"^^xsd:string, "NCI:C27194"^^xsd:string, "SNOMEDCT_US_2021_03_01:3548001"^^xsd:string, "UMLS_CUI:C0700251"^^xsd:string ; oboInOwl:hasExactSynonym "Brachial plexus disorder"@en, "brachial plexopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3690"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brachial plexus neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_870 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001814 ] ) ] . obo:DOID_3691 obo:IAO_0000115 "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5606"^^xsd:string, "UMLS_CUI:C1332272"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous adenocarcinoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal colloid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3447 . obo:DOID_3692 obo:IAO_0000115 "An anal canal cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7471"^^xsd:string, "SNOMEDCT_US_2021_03_01:764845008"^^xsd:string, "UMLS_CUI:C1332259"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the anal canal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of anal canal"@en ; oboInOwl:id "DOID:3692"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal canal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050688, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3693 oboInOwl:hasDbXref "NCI:C27416"^^xsd:string, "UMLS_CUI:C1332248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3502, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3694 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3694"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adnexal mucinous adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3695 oboInOwl:hasExactSynonym "adenocarcinoma of the skin Appendage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the adnexa"@en ; oboInOwl:id "DOID:3695"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adnexa adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3696 obo:IAO_0000115 "A acute transudative otitis media which involves bloody effusion."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:77478005"^^xsd:string, "UMLS_CUI:C0395865"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3696"^^xsd:string ; a owl:Class ; rdfs:label "acute sanguinous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_3697 . obo:DOID_3697 obo:IAO_0000115 "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:35183001"^^xsd:string, "UMLS_CUI:C0271432"^^xsd:string ; oboInOwl:hasExactSynonym "acute non-suppurative otitis media"@en, "acute nonsuppurative otitis media"@en, "acute otitis media with effusion"@en, "acute secretory otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3697"^^xsd:string ; a owl:Class ; rdfs:label "acute transudative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11180 . obo:DOID_3698 oboInOwl:hasDbXref "NCI:C5846"^^xsd:string, "UMLS_CUI:C0861856"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous carcinoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_4896, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3699 obo:IAO_0000115 "A uterine ligament adenocarcinoma that produces mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40137"^^xsd:string, "UMLS_CUI:C1519869"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3700 . obo:DOID_37 obo:IAO_0000115 "An integumentary system disease that is located_in skin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1576"^^xsd:string, "DOID:1698"^^xsd:string, "DOID:187"^^xsd:string, "DOID:6486"^^xsd:string, "DOID:8948"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:702"^^xsd:string, "MESH:D012871"^^xsd:string, "MESH:D012873"^^xsd:string, "NCI:C156032"^^xsd:string, "NCI:C3371"^^xsd:string, "SNOMEDCT_US_2021_03_01:201095006"^^xsd:string, "SNOMEDCT_US_2021_03_01:5613003"^^xsd:string, "SNOMEDCT_US_2021_03_01:95320005"^^xsd:string, "UMLS_CUI:C0029574"^^xsd:string, "UMLS_CUI:C0037274"^^xsd:string, "UMLS_CUI:C0037277"^^xsd:string ; oboInOwl:hasExactSynonym "Genodermatosis"@en, "skin and subcutaneous tissue disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:37"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin disease"^^xsd:string ; rdfs:subClassOf obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_370 oboInOwl:hasExactSynonym "malignant tumor of Olfactory nerve"@en, "primary malignant neoplasm of olfactory nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:370"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant olfactory nerve tumor"^^xsd:string ; owl:deprecated true . obo:DOID_3700 obo:IAO_0000115 "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40135"^^xsd:string, "UMLS_CUI:C1519866"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5727 . obo:DOID_3701 obo:IAO_0000115 "A cervical adenocarcinoma that derives_from mucin producing epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36095"^^xsd:string, "UMLS_CUI:C1332919"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3701"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3702, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3702 obo:IAO_0000115 "A cervix carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4029"^^xsd:string, "SNOMEDCT_US_2021_03_01:254887002"^^xsd:string, "UMLS_CUI:C0279672"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma cervix uteri"@en, "adenocarcinoma of cervix"@en, "adenocarcinoma of the uterine Cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3702"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3703 obo:IAO_0000115 "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5537"^^xsd:string, "UMLS_CUI:C1335513"^^xsd:string ; oboInOwl:hasExactSynonym "acinar Colloid prostate adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3703"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate colloid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2526 . obo:DOID_3704 obo:IAO_0000115 "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40103"^^xsd:string, "UMLS_CUI:C1517119"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3704"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3706, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3705 obo:IAO_0000115 "A fallopian tube benign neoplasm that produces mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40109"^^xsd:string, "UMLS_CUI:C1517120"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube mucinous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060111 . obo:DOID_3706 obo:IAO_0000115 "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6265"^^xsd:string, "UMLS_CUI:C1333590"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3706"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1963, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3707 obo:IAO_0000115 "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40144"^^xsd:string, "UMLS_CUI:C1519859"^^xsd:string ; oboInOwl:hasExactSynonym "uterine Corpus mucinous adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3707"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870, obo:DOID_3030, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3709 obo:IAO_0000115 "A rectal adenocarcinoma that produces mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7973"^^xsd:string, "UMLS_CUI:C0279652"^^xsd:string ; oboInOwl:hasExactSynonym "Colloidal adenocarcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3709"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1996, obo:DOID_3030, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_371 oboInOwl:hasDbXref "NCI:C5437"^^xsd:string, "UMLS_CUI:C1333499"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:371"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extracranial neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_769 . obo:DOID_3710 oboInOwl:hasDbXref "NCI:C39837"^^xsd:string, "UMLS_CUI:C1511193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3710"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder colloid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_3711 obo:IAO_0000115 "A bladder carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4032"^^xsd:string, "SNOMEDCT_US_2021_03_01:255110003"^^xsd:string, "UMLS_CUI:C0279682"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of bladder"@en, "adenocarcinoma of the urinary bladder"@en, "bladder adenocarcinoma, Not Otherwise Specified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3711"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4007, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3713 obo:IAO_0000115 "An ovarian carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7816"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7700"^^xsd:string, "UMLS_CUI:C0948216"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian adenocarcinoma"@en, "ovarian adenoacanthoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the ovary"@en ; oboInOwl:id "DOID:3713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4001, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3715 obo:IAO_0000115 "A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3715"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-suppurative otitis media and eustachian tube disorder"^^xsd:string ; owl:deprecated true . obo:DOID_3716 oboInOwl:hasDbXref "NCI:C5248"^^xsd:string, "UMLS_CUI:C1334809"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous adenocarcinoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous stomach adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3030, obo:DOID_6217, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_3717 obo:IAO_0000115 "A stomach carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4004"^^xsd:string, "SNOMEDCT_US_2021_03_01:408647009"^^xsd:string, "UMLS_CUI:C0278701"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of stomach"@en, "stomach adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3717"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3718 obo:IAO_0000115 "A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3718"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Arterivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3720 oboInOwl:hasDbXref "ICD10CM:C90.2"^^xsd:string, "NCI:C4002"^^xsd:string, "SNOMEDCT_US_2021_03_01:128921005"^^xsd:string, "UMLS_CUI:C0278619"^^xsd:string ; oboInOwl:hasExactSynonym "Extramedullary plasmacytoma"@en, "extraosseous plasmacytoma"@en, "plasmacytoma, extramedullary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3720"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extramedullary plasmacytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3721 . obo:DOID_3721 oboInOwl:hasDbXref "ICD10CM:C90.3"^^xsd:string, "MESH:D010954"^^xsd:string, "NCI:C9349"^^xsd:string, "SNOMEDCT_US_2021_03_01:302852008"^^xsd:string, "UMLS_CUI:C0032131"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloma - solitary"@en, "Myeloma, solitary"@en, "Solitary myeloma"@en, "Solitary plasmacytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3721"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plasmacytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6536 . obo:DOID_3722 oboInOwl:hasDbXref "NCI:C7812"^^xsd:string, "SNOMEDCT_US_2021_03_01:42215000"^^xsd:string, "UMLS_CUI:C0272256"^^xsd:string ; oboInOwl:hasExactSynonym "Isolated osseous plasmacytoma"@en, "Solitary plasmacytoma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3722"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "solitary osseous plasmacytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3721 . obo:DOID_3723 oboInOwl:hasDbXref "NCI:C6711"^^xsd:string, "UMLS_CUI:C1332936"^^xsd:string ; oboInOwl:hasExactSynonym "Solitary plasmacytoma of the Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3723"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "solitary plasmacytoma of chest wall"^^xsd:string ; rdfs:subClassOf obo:DOID_3721 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3721 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] ) ] . obo:DOID_3726 oboInOwl:hasExactSynonym "disorder of puerperium (disorder)"@en, "disorder of the puerperium"@en, "puerperal disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3726"^^xsd:string ; a owl:Class ; rdfs:label "obsolete puerperal disease"^^xsd:string ; owl:deprecated true . obo:DOID_3728 obo:IAO_0000115 "A acute sanguinous otitis media caused by an allergen."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.06"^^xsd:string, "SNOMEDCT_US_2021_03_01:194243008"^^xsd:string, "UMLS_CUI:C0155420"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3728"^^xsd:string ; a owl:Class ; rdfs:label "acute allergic sanguinous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_3696, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_3729 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person."^^xsd:string ; oboInOwl:hasExactSynonym "disease due to Paramyxovirus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3729"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Respirovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_373 oboInOwl:hasExactSynonym "infant nutrition disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:373"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infant nutrition disorder"^^xsd:string ; owl:deprecated true . obo:DOID_3730 obo:IAO_0000115 "A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia."^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonic pasteurellosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3730"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumonic pasteurellosis"^^xsd:string ; owl:deprecated true . obo:DOID_3731 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3731"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Pasteurellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3732 obo:IAO_0000115 "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3732"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bovine respiratory disease complex"^^xsd:string ; owl:deprecated true . obo:DOID_3733 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013801"^^xsd:string, "SNOMEDCT_US_2021_03_01:68771000"^^xsd:string, "UMLS_CUI:C0039753"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Theileria"@en, "theileriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3733"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "theileriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789 . obo:DOID_3737 obo:IAO_0000115 "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018289"^^xsd:string, "NCI:C3781"^^xsd:string, "SNOMEDCT_US_2021_03_01:89906000"^^xsd:string, "UMLS_CUI:C0206706"^^xsd:string ; oboInOwl:hasExactSynonym "Warty carcinoma"@en, "verrucous squamous carcinoma"@en, "verrucous squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3737"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749 . obo:DOID_3739 obo:IAO_0000115 "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas."^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3739"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papillomavirus related squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_374 obo:IAO_0000115 "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009748"^^xsd:string, "NCI:C26836"^^xsd:string, "SNOMEDCT_US_2021_03_01:191077005"^^xsd:string, "UMLS_CUI:C3714509"^^xsd:string ; oboInOwl:hasExactSynonym "Nutritional disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:374"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nutrition disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_3740 obo:IAO_0000115 "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6383"^^xsd:string, "UMLS_CUI:C1336983"^^xsd:string ; oboInOwl:hasExactSynonym "verrucous carcinoma of Vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3740"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2101 . obo:DOID_3741 oboInOwl:hasDbXref "NCI:C39832"^^xsd:string, "UMLS_CUI:C1511208"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3741"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder verrucous squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3742 . obo:DOID_3742 obo:IAO_0000115 "A carcinoma of bladder that is manifested in squamous cells of the bladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4031"^^xsd:string, "SNOMEDCT_US_2021_03_01:255111004"^^xsd:string, "UMLS_CUI:C0279681"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the urinary bladder"@en, "squamous cell carcinoma of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3742"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4007, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_3743 obo:IAO_0000115 "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40190"^^xsd:string, "UMLS_CUI:C1516435"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_3744 obo:IAO_0000115 "A cervix carcinoma that has_material_basis_in squamous cells of the cervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4028"^^xsd:string, "SNOMEDCT_US_2021_03_01:254886006"^^xsd:string, "UMLS_CUI:C0279671"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of cervix"@en, "squamous cell carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3744"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2893, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] . obo:DOID_3747 oboInOwl:hasDbXref "NCI:C27420"^^xsd:string, "UMLS_CUI:C1333470"^^xsd:string ; oboInOwl:hasExactSynonym "oesophagus verrucous carcinoma"@en, "verrucous carcinoma of esophagus"@en, "verrucous carcinoma of oesophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "verrucous carcinoma of the esophagus"@en ; oboInOwl:id "DOID:3747"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3748 . obo:DOID_3748 obo:IAO_0000115 "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000077277"^^xsd:string, "NCI:C4024"^^xsd:string, "SNOMEDCT_US_2021_03_01:276804009"^^xsd:string, "UMLS_CUI:C0279626"^^xsd:string ; oboInOwl:hasExactSynonym "SCC of esophagus"@en, "SCC of oesophagus"@en, "oesophagus squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3748"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "esophagus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1107, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_3749 oboInOwl:hasDbXref "NCI:C39874"^^xsd:string, "UMLS_CUI:C1519827"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3749"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3750 . obo:DOID_3750 obo:IAO_0000115 "A cancer of urethra that shows squamous cell differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6165"^^xsd:string, "UMLS_CUI:C1336890"^^xsd:string ; oboInOwl:hasExactSynonym "urethral Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_734, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_3751 oboInOwl:hasDbXref "NCI:C6811"^^xsd:string, "SNOMEDCT_US_2021_03_01:254655003"^^xsd:string, "UMLS_CUI:C0349657"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3751"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plantar verrucous skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_3752 oboInOwl:hasDbXref "NCI:C8188"^^xsd:string, "UMLS_CUI:C0280328"^^xsd:string ; oboInOwl:hasExactSynonym "verrucous carcinoma of the Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2876 . obo:DOID_3753 obo:IAO_0000115 "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin."^^xsd:string ; oboInOwl:hasDbXref "GARD:6643"^^xsd:string, "ICD10CM:E70.331"^^xsd:string, "MESH:D022861"^^xsd:string, "NCI:C37261"^^xsd:string, "OMIM:PS203300"^^xsd:string, "ORDO:231531"^^xsd:string, "ORDO:231537"^^xsd:string, "ORDO:280663"^^xsd:string, "ORDO:79430"^^xsd:string, "SNOMEDCT_US_2021_03_01:60255003"^^xsd:string, "UMLS_CUI:C0079504"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3753"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Hermansky-Pudlak syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_3755 obo:IAO_0000115 "A thrombophilia that is characterized by the tendency to form clots in the veins."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.59"^^xsd:string, "MESH:D020152"^^xsd:string, "NCI:C98815"^^xsd:string, "OMIM:613118"^^xsd:string, "SNOMEDCT_US_2021_03_01:36351005"^^xsd:string, "UMLS_CUI:C0272375"^^xsd:string ; oboInOwl:hasExactSynonym "AT III deficiency"@en, "hereditary thrombophilia due to congenital antithrombin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3755"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "antithrombin III deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_3756 obo:IAO_0000115 "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:4521"^^xsd:string, "ICD10CM:D68.59"^^xsd:string, "MESH:D020151"^^xsd:string, "NCI:C99025"^^xsd:string, "ORDO:745"^^xsd:string, "SNOMEDCT_US_2021_03_01:76407009"^^xsd:string, "UMLS_CUI:C0398625"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "protein C deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3758 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3758"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Fusobacterium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3762 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation."^^xsd:string ; oboInOwl:hasDbXref "MESH:D030401"^^xsd:string, "NCI:C98910"^^xsd:string, "OMIM:220110"^^xsd:string, "SNOMEDCT_US_2021_03_01:237991006"^^xsd:string, "UMLS_CUI:C0268237"^^xsd:string ; oboInOwl:hasExactSynonym "MITOCHONDRIAL COMPLEX IV DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3762"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cytochrome-c oxidase deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] . obo:DOID_3763 oboInOwl:hasDbXref "MESH:D012734"^^xsd:string, "NCI:C45909"^^xsd:string, "SNOMEDCT_US_2021_03_01:52572004"^^xsd:string, "UMLS_CUI:C0019269"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hermaphroditism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_3764 obo:IAO_0000115 "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)."^^xsd:string ; oboInOwl:hasDbXref "GARD:5576"^^xsd:string, "MESH:D030321"^^xsd:string, "NCI:C84668"^^xsd:string, "OMIM:194080"^^xsd:string, "SNOMEDCT_US_2021_03_01:236385009"^^xsd:string, "UMLS_CUI:C0950121"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3764"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Denys-Drash syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3765 oboInOwl:hasAlternativeId "DOID:11226"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q56"^^xsd:string, "ICD10CM:Q56.3"^^xsd:string, "ICD9CM:752.7"^^xsd:string, "MESH:D012734"^^xsd:string, "NCI:C124575"^^xsd:string, "SNOMEDCT_US_2021_03_01:204895009"^^xsd:string, "SNOMEDCT_US_2021_03_01:268328009"^^xsd:string, "UMLS_CUI:C0021193"^^xsd:string, "UMLS_CUI:C0033804"^^xsd:string ; oboInOwl:hasExactSynonym "Indeterminate sex and pseudohermaphroditism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3765"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudohermaphroditism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_3766 obo:IAO_0000115 "A vaginal discharge that is characterized by a whitish or yellow color."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N89.8"^^xsd:string, "MESH:D007973"^^xsd:string, "NCI:C34775"^^xsd:string, "SNOMEDCT_US_2021_03_01:156017008"^^xsd:string, "UMLS_CUI:C0023533"^^xsd:string ; oboInOwl:hasExactSynonym "Leukorrhea of vagina"@en, "discharge - leukorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_3767 . obo:DOID_3767 obo:IAO_0000115 "A vaginal disease that is characterized by the presence of discharge."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019522"^^xsd:string, "SNOMEDCT_US_2021_03_01:70856007"^^xsd:string, "UMLS_CUI:C0227791"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3767"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal discharge"^^xsd:string ; rdfs:subClassOf obo:DOID_121 . obo:DOID_3770 obo:IAO_0000115 "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011658"^^xsd:string, "NCI:C26869"^^xsd:string, "SNOMEDCT_US_2021_03_01:155613001"^^xsd:string, "UMLS_CUI:C0034069"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosis of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3770"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:HP_0006530 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:HP_0100699 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_3772 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C5273"^^xsd:string, "UMLS_CUI:C1334271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3772"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraventricular meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_3773 oboInOwl:hasDbXref "NCI:C5592"^^xsd:string, "SNOMEDCT_US_2021_03_01:128789002"^^xsd:string, "UMLS_CUI:C1322252"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoid glioma of 3rd Ventricle"@en, "Chordoid glioma of third ventricle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3773"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "third ventricle chordoid glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_3541, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002286 ] . obo:DOID_3774 oboInOwl:hasDbXref "NCI:C5592"^^xsd:string, "SNOMEDCT_US_2021_03_01:128789002"^^xsd:string, "UMLS_CUI:C1322252"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoid glioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3774"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chordoid glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070 . obo:DOID_3777 oboInOwl:hasDbXref "GARD:6546"^^xsd:string, "ICD10CM:L92.0"^^xsd:string, "MESH:D016460"^^xsd:string, "NCI:C3470"^^xsd:string, "SNOMEDCT_US_2021_03_01:200953005"^^xsd:string, "UMLS_CUI:C0085074"^^xsd:string ; oboInOwl:hasExactSynonym "Granuloma annulare"@en, "Granulome annulare"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3777"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granuloma annulare"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_3781 obo:IAO_0000115 "An ovarian disease that is characterized by the absence of ovulation."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000858"^^xsd:string, "NCI:C34388"^^xsd:string, "SNOMEDCT_US_2021_03_01:34571000"^^xsd:string, "UMLS_CUI:C0003128"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3781"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anovulation"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_3783 obo:IAO_0000115 "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "GARD:6123"^^xsd:string, "MESH:D038921"^^xsd:string, "NCI:C84643"^^xsd:string, "OMIM:303600"^^xsd:string, "SNOMEDCT_US_2021_03_01:15182000"^^xsd:string, "UMLS_CUI:C0265252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3783"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Coffin-Lowry syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_379 oboInOwl:hasAlternativeId "DOID:13122"^^xsd:string, "DOID:835"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H61.9"^^xsd:string, "ICD9CM:380"^^xsd:string, "NCI:C26972"^^xsd:string, "SNOMEDCT_US_2021_03_01:49130001"^^xsd:string, "UMLS_CUI:C0155388"^^xsd:string ; oboInOwl:hasExactSynonym "Preauricular cyst"@en, "Preauricular sinus and fistula"@en, "Preauricular sinus or fistula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external ear disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001691 ] ) ] . obo:DOID_3798 obo:IAO_0000115 "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11023"^^xsd:string, "DOID:13630"^^xsd:string, "DOID:14304"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J86"^^xsd:string, "MESH:D016724"^^xsd:string, "NCI:C45692"^^xsd:string, "SNOMEDCT_US_2021_03_01:196069007"^^xsd:string, "UMLS_CUI:C0014013"^^xsd:string ; oboInOwl:hasExactSynonym "Empyema"@en, "Empyema of pleura"@en, "Empyema of pleura without fistula"@en, "Empyema with fistula"@en, "Empyema with no fistula"@en, "Empyema with pleural fistula"@en, "Empyema without mention of fistula"@en, "Empyema, chest"@en, "Pleural empyema with fistula"@en, "Purulent pleurisy"@en, "Thorax abscess"@en, "abscess of pleural cavity"@en, "abscess of thorax"@en, "empyema"@en, "empyema with fistula"@en, "lung empyema"@en, "pleural empyema with no fistula"@en, "purulent pleuritis"@en, "pyothorax"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3798"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating outdated UMLS CUI."^^xsd:string ; rdfs:label "pleural empyema"^^xsd:string ; rdfs:subClassOf obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_3799 obo:IAO_0000115 "A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "Feline panleukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3799"^^xsd:string ; a owl:Class ; rdfs:label "obsolete feline panleukopenia"^^xsd:string ; owl:deprecated true . obo:DOID_3800 obo:IAO_0000115 "A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tumor Virus Infections"@en ; oboInOwl:id "DOID:3800"^^xsd:string ; a owl:Class ; rdfs:label "obsolete avian leukosis"^^xsd:string ; owl:deprecated true . obo:DOID_3803 obo:IAO_0000115 "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E80.5"^^xsd:string, "MESH:D003414"^^xsd:string, "NCI:C84656"^^xsd:string, "OMIM:218800"^^xsd:string, "ORDO:205"^^xsd:string, "SNOMEDCT_US_2021_03_01:8933000"^^xsd:string, "UMLS_CUI:C0010324"^^xsd:string ; oboInOwl:hasExactSynonym "Bilirubin UDP glucuronyl transferase deficiency"@en, "Crigler Najjar syndrome"@en, "Crigler-Najjar syndrome, type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3803"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Crigler-Najjar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2741 ; skos:exactMatch "MESH:D003414"^^xsd:string . obo:DOID_3805 oboInOwl:hasAlternativeId "DOID:8668"^^xsd:string ; oboInOwl:hasDbXref "GARD:10983"^^xsd:string, "ICD10CM:L56.5"^^xsd:string, "ICD9CM:692.75"^^xsd:string, "MESH:D017499"^^xsd:string, "NCI:C85019"^^xsd:string, "OMIM:175800"^^xsd:string, "SNOMEDCT_US_2021_03_01:201086003"^^xsd:string, "SNOMEDCT_US_2021_03_01:238630009"^^xsd:string, "UMLS_CUI:C0162839"^^xsd:string, "UMLS_CUI:C0265970"^^xsd:string ; oboInOwl:hasExactSynonym "disseminated superficial actinic porokeratosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3805"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "porokeratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_3809 oboInOwl:hasDbXref "NCI:C5310"^^xsd:string, "UMLS_CUI:C1333417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3809"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidural spinal canal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_381 obo:IAO_0000115 "A bone disease that is located_in the joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13871"^^xsd:string, "DOID:13960"^^xsd:string, "DOID:1843"^^xsd:string, "DOID:1903"^^xsd:string, "DOID:226"^^xsd:string, "DOID:2317"^^xsd:string, "DOID:2318"^^xsd:string, "DOID:546"^^xsd:string, "DOID:9489"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M00-M02"^^xsd:string, "ICD10CM:M12.9"^^xsd:string, "ICD9CM:711"^^xsd:string, "ICD9CM:719.90"^^xsd:string, "MESH:D007592"^^xsd:string, "NCI:C35760"^^xsd:string, "NCI:C78402"^^xsd:string, "SNOMEDCT_US_2021_03_01:48548006"^^xsd:string, "SNOMEDCT_US_2021_03_01:8316001"^^xsd:string, "UMLS_CUI:C0022408"^^xsd:string, "UMLS_CUI:C0157749"^^xsd:string ; oboInOwl:hasExactSynonym "Ankylosis of joint of ankle and/or foot"@en, "Ankylosis of joint of forearm"@en, "Ankylosis of joint of hand"@en, "Ankylosis of joint of lower leg"@en, "Ankylosis of joint of multiple sites"@en, "Ankylosis of joint of shoulder region"@en, "Ankylosis of joint of upper arm"@en, "Ankylosis of multiple joints"@en, "Infectious arthropathy"@en, "Joint ankylosis of the ankle and foot"@en, "Joint ankylosis of the ankle and/or foot"@en, "Joint ankylosis of the forearm"@en, "Joint ankylosis of the hand"@en, "Joint ankylosis of the lower leg"@en, "Joint ankylosis of the pelvic region and thigh"@en, "Joint ankylosis of the shoulder region"@en, "Joint ankylosis of the upper arm"@en, "ankylosis of ankle and foot joint"@en, "ankylosis of forearm joint"@en, "ankylosis of hand joint"@en, "ankylosis of joint of multiple sites"@en, "ankylosis of joint of pelvic region and thigh"@en, "ankylosis of joint of shoulder region"@en, "ankylosis of lower leg joint"@en, "ankylosis of upper arm joint"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_3810 oboInOwl:hasExactSynonym "Chondromatous neoplasm (morphologic abnormality)"@en, "Chondromatous neoplasm NOS (morphologic abnormality)"@en, "Chondromatous tumor"@en, "cartilage neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chondrogenic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3812 oboInOwl:hasExactSynonym "Chondroma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3812"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinum chondroma"^^xsd:string ; owl:deprecated true . obo:DOID_3813 oboInOwl:hasDbXref "NCI:C7001"^^xsd:string, "UMLS_CUI:C1333019"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_2602, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000138 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_3814 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3814"^^xsd:string ; a owl:Class ; rdfs:label "extraskeletal chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_3816 oboInOwl:hasDbXref "NCI:C27335"^^xsd:string, "UMLS_CUI:C0919940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3816"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glossopharyngeal nerve paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_3817 . obo:DOID_3817 obo:IAO_0000115 "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003389"^^xsd:string, "NCI:C26941"^^xsd:string, "SNOMEDCT_US_2021_03_01:73013002"^^xsd:string, "UMLS_CUI:C0151311"^^xsd:string ; oboInOwl:hasExactSynonym "Cranial nerve Paralysis"@en, "Cranial nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 . obo:DOID_3818 obo:IAO_0000115 "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017454"^^xsd:string, "SNOMEDCT_US_2021_03_01:111209006"^^xsd:string, "UMLS_CUI:C0162824"^^xsd:string ; oboInOwl:hasExactSynonym "Photoallergic contact dermatitis"@en, "Photoallergic dermatitis"@en, "Photoallergic eczema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3818"^^xsd:string ; a owl:Class ; rdfs:label "photoallergic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001003 ] . obo:DOID_3819 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011040"^^xsd:string, "SNOMEDCT_US_2021_03_01:410049000"^^xsd:string, "UMLS_CUI:C0032342"^^xsd:string ; oboInOwl:hasExactSynonym "Contact dermatitis due to Genus Toxicodendron"@en, "Rhus dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3819"^^xsd:string ; a owl:Class ; rdfs:label "toxicodendron dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042 . obo:DOID_3820 oboInOwl:hasExactSynonym "chlamydiaceae infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3820"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Chlamydiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3821 oboInOwl:hasDbXref "MESH:D020762"^^xsd:string, "UMLS_CUI:C0752132"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3821"^^xsd:string ; a owl:Class ; rdfs:label "posterior cerebral artery infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3526 . obo:DOID_3825 oboInOwl:hasDbXref "GARD:7636"^^xsd:string, "MESH:D012790"^^xsd:string, "SNOMEDCT_US_2021_03_01:24453002"^^xsd:string, "UMLS_CUI:C0037018"^^xsd:string ; oboInOwl:hasExactSynonym "Shwartzman reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3825"^^xsd:string ; a owl:Class ; rdfs:label "Shwartzman phenomenon"^^xsd:string ; rdfs:subClassOf obo:DOID_865 ; skos:exactMatch "MESH:D012790"^^xsd:string . obo:DOID_3827 obo:IAO_0000115 "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:1481"^^xsd:string, "ICD10CM:K44"^^xsd:string, "MESH:D006548"^^xsd:string, "NCI:C34687"^^xsd:string, "OMIM:142340"^^xsd:string, "OMIM:222400"^^xsd:string, "OMIM:610187"^^xsd:string, "ORDO:2140"^^xsd:string, "SNOMEDCT_US_2021_03_01:155748004"^^xsd:string, "UMLS_CUI:C0019284"^^xsd:string ; oboInOwl:hasExactSynonym "Diaphragmatic Hernia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3827"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital diaphragmatic hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_10481, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; skos:exactMatch "ICD10CM:Q79.0"^^xsd:string . obo:DOID_3828 oboInOwl:hasDbXref "MESH:D000238"^^xsd:string, "NCI:C2857"^^xsd:string, "SNOMEDCT_US_2021_03_01:37039006"^^xsd:string, "UMLS_CUI:C0001432"^^xsd:string ; oboInOwl:hasExactSynonym "Chromophobe adenoma of the Pituitary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3828"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromophobe adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_3829 obo:IAO_0000115 "A pituitary gland benign neoplasm that derives_from glandular epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010911"^^xsd:string, "NCI:C3329"^^xsd:string, "OMIM:PS102200"^^xsd:string, "SNOMEDCT_US_2021_03_01:154621002"^^xsd:string, "UMLS_CUI:C0032000"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the Pituitary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3829"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_60009, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_3836 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete posttransplantation lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_3837 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_3838 oboInOwl:hasExactSynonym "Lymphoproliferative disorder of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3838"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_384 oboInOwl:hasAlternativeId "DOID:10392"^^xsd:string ; oboInOwl:hasDbXref "GARD:7897"^^xsd:string, "ICD10CM:I45.6"^^xsd:string, "ICD9CM:426.7"^^xsd:string, "MESH:D014927"^^xsd:string, "NCI:C35132"^^xsd:string, "OMIM:194200"^^xsd:string, "SNOMEDCT_US_2021_03_01:195057009"^^xsd:string, "SNOMEDCT_US_2021_03_01:74390002"^^xsd:string, "UMLS_CUI:C0043202"^^xsd:string, "UMLS_CUI:C0392470"^^xsd:string ; oboInOwl:hasExactSynonym "Anomalous A-V excitation"@en, "Wolff-Parkinson-White pattern"@en, "anomalous atrioventricular excitation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:384"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Wolff-Parkinson-White syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 . obo:DOID_3840 oboInOwl:hasDbXref "GARD:10486"^^xsd:string, "MESH:D003397"^^xsd:string, "NCI:C2964"^^xsd:string, "SNOMEDCT_US_2021_03_01:189179009"^^xsd:string, "UMLS_CUI:C0010276"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of Rathke's Pouch"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "craniopharyngioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_3842 oboInOwl:hasDbXref "MESH:D019292"^^xsd:string, "NCI:C4676"^^xsd:string, "UMLS_CUI:C0376527"^^xsd:string ; oboInOwl:hasExactSynonym "tumors of Skull Base"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3842"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skull base cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1863 . obo:DOID_3843 oboInOwl:hasAlternativeId "DOID:6097"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5125"^^xsd:string, "NCI:C5126"^^xsd:string, "UMLS_CUI:C1333286"^^xsd:string, "UMLS_CUI:C1334576"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Diencephalic tumor"@en, "malignant diencephalic neoplasm"@en, "tumor of Diencephalon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diencephalic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1659 . obo:DOID_3844 oboInOwl:hasExactSynonym "pediatric Rathke's Pouch tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3844"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric craniopharyngioma"^^xsd:string ; owl:deprecated true . obo:DOID_3845 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3845"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood intracranial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3846 oboInOwl:hasDbXref "MESH:D003397"^^xsd:string, "NCI:C4726"^^xsd:string, "SNOMEDCT_US_2021_03_01:134216001"^^xsd:string, "UMLS_CUI:C0431129"^^xsd:string ; oboInOwl:hasExactSynonym "Adamantinous Rathke's Pouch tumor"@en, "Adamantinous craniopharyngioma"@en, "craniopharyngioma, adamantinomatous"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3846"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adamantinous craniopharyngioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3840 . obo:DOID_3847 oboInOwl:hasDbXref "MESH:D003397"^^xsd:string, "NCI:C4725"^^xsd:string, "SNOMEDCT_US_2021_03_01:134215002"^^xsd:string, "UMLS_CUI:C0431128"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary Rathke's Pouch tumor"@en, "Papillary craniopharyngioma"@en, "craniopharyngioma, papillary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3847"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary craniopharyngioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3840 . obo:DOID_3848 oboInOwl:hasExactSynonym "adult Rathke's Pouch tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3848"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult craniopharyngioma"^^xsd:string ; owl:deprecated true . obo:DOID_3849 oboInOwl:hasExactSynonym "adult intracranial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3849"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult intracranial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_3850 oboInOwl:hasDbXref "NCI:C7076"^^xsd:string, "SNOMEDCT_US_2021_03_01:189867006"^^xsd:string, "UMLS_CUI:C0476144"^^xsd:string ; oboInOwl:hasExactSynonym "Hemangiopericytic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3850"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangiopericytic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3316 . obo:DOID_3852 oboInOwl:hasAlternativeId "DOID:4133"^^xsd:string, "DOID:4134"^^xsd:string, "DOID:6252"^^xsd:string, "DOID:6253"^^xsd:string ; oboInOwl:hasDbXref "GARD:7378"^^xsd:string, "ICD10CM:Q85.8"^^xsd:string, "MESH:D010580"^^xsd:string, "NCI:C3324"^^xsd:string, "NCI:C4733"^^xsd:string, "NCI:C7755"^^xsd:string, "OMIM:175200"^^xsd:string, "ORDO:2869"^^xsd:string, "SNOMEDCT_US_2021_03_01:157029009"^^xsd:string, "SNOMEDCT_US_2021_03_01:277161008"^^xsd:string, "SNOMEDCT_US_2021_03_01:53633000"^^xsd:string, "UMLS_CUI:C0031269"^^xsd:string, "UMLS_CUI:C0265323"^^xsd:string, "UMLS_CUI:C0456487"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic hamartomatous polyp"@en, "Peutz Jeghers colon polyp"@en, "Peutz Jeghers polyp"@en, "Peutz-Jeghers polyp of small Intestine"@en, "gastric Peutz-Jeghers polyp"@en, "peutz-jeghers small bowel hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Peutz-Jeghers syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_3855 oboInOwl:hasDbXref "NCI:C39908"^^xsd:string, "SNOMEDCT_US_2021_03_01:236740006"^^xsd:string, "UMLS_CUI:C0341767"^^xsd:string ; oboInOwl:hasExactSynonym "Seminal Vesicle neoplasm"@en, "seminal vesicle tumour"@en, "tumor of seminal vesicle"@en, "tumour of seminal vesicle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3855"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "seminal vesicle tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087 . obo:DOID_3856 obo:IAO_0000115 "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10284"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C63.9"^^xsd:string, "ICD9CM:187.9"^^xsd:string, "MESH:D005834"^^xsd:string, "NCI:C3054"^^xsd:string, "NCI:C8561"^^xsd:string, "SNOMEDCT_US_2021_03_01:126895004"^^xsd:string, "SNOMEDCT_US_2021_03_01:363515000"^^xsd:string, "UMLS_CUI:C0017417"^^xsd:string, "UMLS_CUI:C0153606"^^xsd:string ; oboInOwl:hasExactSynonym "male genital cancer"@en, "male reproductive system neoplasm"@en, "malignant neoplasm of male genital organ"@en, "malignant neoplasm of male genital organ or tract"@en, "malignant neoplasm of male genital organs"@en, "malignant tumor of male Reproductive system"@en, "malignant tumor of male genital organ"@en, "neoplasm of male genital organ"@en, "tumor of male Reproductive system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "male genital neoplasm"@en ; oboInOwl:id "DOID:3856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "male reproductive organ cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_193, obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ] ) ] . obo:DOID_3857 obo:IAO_0000115 "A medulloblastoma that is characterized by cells that are larger than would be normally expected."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6904"^^xsd:string, "SNOMEDCT_US_2021_03_01:128790006"^^xsd:string, "UMLS_CUI:C1266180"^^xsd:string ; oboInOwl:hasExactSynonym "large cell Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3857"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "large cell medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_3859 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3859"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_386 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Postcardiotomy syndrome"@en ; oboInOwl:id "DOID:386"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postpericardiotomy syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_3860 oboInOwl:hasDbXref "NCI:C5401"^^xsd:string, "UMLS_CUI:C1332903"^^xsd:string ; oboInOwl:hasExactSynonym "Vermis Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3860"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellar vermis medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902, obo:DOID_0060104 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050902 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004720 ] ) ] . obo:DOID_3861 oboInOwl:hasDbXref "MESH:D008527"^^xsd:string, "NCI:C3706"^^xsd:string, "SNOMEDCT_US_2021_03_01:24604009"^^xsd:string, "UMLS_CUI:C0205833"^^xsd:string ; oboInOwl:hasExactSynonym "Medullomyoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "medullomyoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_3862 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3862"^^xsd:string ; a owl:Class ; rdfs:label "obsolete FAP associated medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_3863 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3863"^^xsd:string ; a owl:Class ; rdfs:label "obsolete region 17p13 allelic loss associated medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_3864 oboInOwl:hasAlternativeId "DOID:6380"^^xsd:string ; oboInOwl:hasDbXref "MESH:D008527"^^xsd:string, "NCI:C4011"^^xsd:string, "UMLS_CUI:C0278876"^^xsd:string ; oboInOwl:hasExactSynonym "adult brain medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3864"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3865 oboInOwl:hasDbXref "NCI:C5411"^^xsd:string, "UMLS_CUI:C1332196"^^xsd:string ; oboInOwl:hasExactSynonym "adult CNS PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system primitive neuroectodermal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060103, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_3866 oboInOwl:hasAlternativeId "DOID:6926"^^xsd:string ; oboInOwl:hasExactSynonym "desmoplastic medulloblastoma (morphologic abnormality)"@en, "desmoplastic nodular medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3866"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete desmoplastic medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_3867 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3867"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_3868 oboInOwl:hasDbXref "MESH:D008527"^^xsd:string, "NCI:C9497"^^xsd:string, "SNOMEDCT_US_2021_03_01:397380008"^^xsd:string, "UMLS_CUI:C1275668"^^xsd:string ; oboInOwl:hasExactSynonym "Medulloblastoma, melanotic"@en, "Melanotic Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanotic medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_3869 oboInOwl:hasDbXref "MESH:D008527"^^xsd:string, "NCI:C3997"^^xsd:string, "UMLS_CUI:C0278510"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3869"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3870 oboInOwl:hasDbXref "NCI:C5961"^^xsd:string, "UMLS_CUI:C1332957"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric CNS PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3870"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood central nervous system primitive neuroectodermal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060103, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_3871 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3871"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medulloblastoma with leptomeningeal spread"^^xsd:string ; owl:deprecated true . obo:DOID_3872 oboInOwl:hasExactSynonym "Meningeal carcinomatosis"@en, "malignant meningitis (disorder)"@en, "metastatic tumor to the Leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3872"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leptomeningeal metastases"^^xsd:string ; owl:deprecated true . obo:DOID_3873 oboInOwl:hasDbXref "NCI:C5407"^^xsd:string, "SNOMEDCT_US_2021_03_01:733902001"^^xsd:string, "UMLS_CUI:C1334970"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3873"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_3875 obo:IAO_0000115 "A phlebitis that results from a blood clot in the vessel."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1146"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I80.0"^^xsd:string, "ICD9CM:451.0"^^xsd:string, "MESH:D013924"^^xsd:string, "NCI:C3410"^^xsd:string, "SNOMEDCT_US_2021_03_01:40283005"^^xsd:string, "SNOMEDCT_US_2021_03_01:64156001"^^xsd:string, "UMLS_CUI:C0040046"^^xsd:string, "UMLS_CUI:C0265057"^^xsd:string ; oboInOwl:hasExactSynonym "Phlebitis and thrombophlebitis of superficial vessels of lower extremities"@en, "Superficial thrombophlebitis of leg"@en, "Thrombophlebitis of a superficial leg vein"@en, "Thrombophlebitis of superficial veins of lower extremity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3875"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thrombophlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_864, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] . obo:DOID_3876 oboInOwl:hasDbXref "MESH:D003112"^^xsd:string, "SNOMEDCT_US_2021_03_01:35065006"^^xsd:string, "UMLS_CUI:C0009377"^^xsd:string ; oboInOwl:hasExactSynonym "primary chronic pseudo-obstruction of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3876"^^xsd:string ; a owl:Class ; rdfs:label "colonic pseudo-obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_3877, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_3877 oboInOwl:hasDbXref "MESH:D003109"^^xsd:string, "UMLS_CUI:C0009374"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3877"^^xsd:string ; a owl:Class ; rdfs:label "functional colonic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_3878 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3878"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal pseudo-obstruction"^^xsd:string ; owl:deprecated true . obo:DOID_3881 oboInOwl:hasExactSynonym "Proteus infection"@en, "Proteus infection (disorder)"@en, "Proteus infection NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3881"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Proteus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3883 obo:IAO_0000115 "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050586"^^xsd:string, "DOID:3040"^^xsd:string ; oboInOwl:hasDbXref "GARD:9905"^^xsd:string, "MESH:D003123"^^xsd:string, "NCI:C120083"^^xsd:string, "OMIM:PS120435"^^xsd:string, "ORDO:144"^^xsd:string, "SNOMEDCT_US_2021_03_01:315058005"^^xsd:string, "UMLS_CUI:C0009405"^^xsd:string, "UMLS_CUI:C1333990"^^xsd:string ; oboInOwl:hasExactSynonym "COCA 1"@en, "HNPCC - hereditary nonpolyposis colon cancer"@en, "Hereditary Defective Mismatch Repair syndrome"@en, "hereditary nonpolyposis colorectal cancer"@en, "hereditary nonpolyposis colorectal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3883"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Lynch syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_3890 oboInOwl:hasDbXref "GARD:5732"^^xsd:string, "MESH:D017118"^^xsd:string, "NCI:C84536"^^xsd:string, "OMIM:176000"^^xsd:string, "SNOMEDCT_US_2021_03_01:190914003"^^xsd:string, "UMLS_CUI:C0162565"^^xsd:string ; oboInOwl:hasExactSynonym "AIP - acute intermittent porphyria"@en, "Pyrroloporphyria"@en, "porphyria intermittent acute"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3890"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute intermittent porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_3891 obo:IAO_0000115 "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010927"^^xsd:string, "SNOMEDCT_US_2021_03_01:156185006"^^xsd:string, "UMLS_CUI:C0032051"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3891"^^xsd:string ; a owl:Class ; rdfs:label "placental insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_3892 obo:IAO_0000115 "A pancreatic cystadenoma that is characterized by the overproduction of insulin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3903"^^xsd:string ; oboInOwl:hasDbXref "GARD:3010"^^xsd:string, "MESH:D007340"^^xsd:string, "MESH:D007516"^^xsd:string, "NCI:C65184"^^xsd:string, "NCI:C95598"^^xsd:string, "SNOMEDCT_US_2021_03_01:189586007"^^xsd:string, "SNOMEDCT_US_2021_03_01:25324008"^^xsd:string, "UMLS_CUI:C0021670"^^xsd:string, "UMLS_CUI:C0022134"^^xsd:string ; oboInOwl:hasExactSynonym "Insulin-Producing tumor of Islet cells"@en, "Islet cell adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3892"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "insulinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_3918, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_3893 oboInOwl:hasDbXref "MESH:D018251"^^xsd:string, "NCI:C3760"^^xsd:string, "SNOMEDCT_US_2021_03_01:80549000"^^xsd:string, "UMLS_CUI:C0206672"^^xsd:string ; oboInOwl:hasExactSynonym "Apocrine Cystadenoma"@en, "Apocrine cystadenoma"@en, "Eccrine Cystadenoma"@en, "Eccrine hidrocystoma of skin"@en, "Hidrocystoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3893"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hidrocystoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5876 ; skos:exactMatch "MESH:D018251"^^xsd:string . obo:DOID_3895 oboInOwl:hasDbXref "NCI:C4168"^^xsd:string, "SNOMEDCT_US_2021_03_01:307596009"^^xsd:string, "UMLS_CUI:C0334345"^^xsd:string ; oboInOwl:hasExactSynonym "tubular Apocrine adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3895"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apocrine adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5876 . obo:DOID_3896 obo:IAO_0000115 "A sweat gland benign neoplasm that is located_in an apical sweat gland."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006607"^^xsd:string, "NCI:C7560"^^xsd:string, "SNOMEDCT_US_2021_03_01:81393009"^^xsd:string, "UMLS_CUI:C0019522"^^xsd:string ; oboInOwl:hasExactSynonym "Hidradenoma of skin"@en, "Sweat gland adenoma"@en, "Syringoadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3896"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hidradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_2664, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_3898 oboInOwl:hasExactSynonym "Adnexal adenoma"@en, "skin appendage adenoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of skin appendage"@en ; oboInOwl:id "DOID:3898"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin appendage adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_3899 oboInOwl:hasExactSynonym "Adnexal and skin appendage neoplasm (morphologic abnormality)"@en, "Adnexal and skin appendage neoplasm NOS (morphologic abnormality)"@en, "Adnexal and skin appendage tumor (qualifier value)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3899"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin appendage neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_390 oboInOwl:hasAlternativeId "DOID:11956"^^xsd:string, "DOID:11957"^^xsd:string, "DOID:13384"^^xsd:string, "DOID:13385"^^xsd:string ; oboInOwl:hasExactSynonym "Antenatal deep vein thrombosis"@en, "Antenatal deep vein thrombosis NOS (disorder)"@en, "Antenatal deep vein thrombosis unspecified (disorder)"@en, "Antepartum deep phlebothrombosis (disorder)"@en, "Deep phlebothrombosis, antepartum"@en, "Deep phlebothrombosis, antepartum, unspecified as to episode of care"@en, "Deep phlebothrombosis, antepartum, with delivery"@en, "Deep phlebothrombosis, postpartum, with delivery"@en, "antepartum deep-vein thrombosis"@en, "postpartum deep-vein thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:390"^^xsd:string ; a owl:Class ; rdfs:label "obsolete venous problem"^^xsd:string ; owl:deprecated true . obo:DOID_3901 obo:IAO_0000115 "A vulvar disease that is characterized by inflammation of the vulva."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N76.2"^^xsd:string, "MESH:D014847"^^xsd:string, "SNOMEDCT_US_2021_03_01:63144007"^^xsd:string, "UMLS_CUI:C0042996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3901"^^xsd:string ; a owl:Class ; rdfs:label "vulvitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2059, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_3902 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle."^^xsd:string ; oboInOwl:hasExactSynonym "Aujeszky's disease"@en, "mad itch"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3902"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pseudorabies"^^xsd:string ; owl:deprecated true . obo:DOID_3904 obo:IAO_0000115 "A bronchus cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002283"^^xsd:string, "NCI:C35875"^^xsd:string, "SNOMEDCT_US_2021_03_01:254622008"^^xsd:string, "UMLS_CUI:C0007121"^^xsd:string ; oboInOwl:hasExactSynonym "BC - Bronchogenic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3904"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchus carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1325, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] . obo:DOID_3905 obo:IAO_0000115 "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001071"^^xsd:string, "NCI:C4878"^^xsd:string, "SNOMEDCT_US_2021_03_01:154485001"^^xsd:string, "UMLS_CUI:C0684249"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of lung"@en ; oboInOwl:id "DOID:3905"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lung carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1324, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_3906 oboInOwl:hasDbXref "MESH:D001984"^^xsd:string, "SNOMEDCT_US_2021_03_01:126705004"^^xsd:string, "UMLS_CUI:C0006264"^^xsd:string ; oboInOwl:hasExactSynonym "bronchus neoplasm"@en, "neoplasm of bronchus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3906"^^xsd:string ; a owl:Class ; rdfs:label "bronchial benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_1176 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_3907 obo:IAO_0000115 "A non-small cell lung carcinoma that has_material_basis_in the squamous cell."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3493"^^xsd:string, "SNOMEDCT_US_2021_03_01:254634000"^^xsd:string, "UMLS_CUI:C0149782"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of lung"@en ; oboInOwl:id "DOID:3907"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3908, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_3908 obo:IAO_0000115 "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003060"^^xsd:string, "KEGG:05223"^^xsd:string, "MESH:D002289"^^xsd:string, "NCI:C2926"^^xsd:string, "SNOMEDCT_US_2021_03_01:254637007"^^xsd:string, "UMLS_CUI:C0007131"^^xsd:string ; oboInOwl:hasExactSynonym "NSCLC"@en, "Non-small cell lung cancer"@en, "non-small cell lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3908"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung non-small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_3909 oboInOwl:hasExactSynonym "Bronchiogenic adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3909"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bronchogenic lung adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3910 obo:IAO_0000115 "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3909"^^xsd:string, "DOID:4826"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000571"^^xsd:string, "GARD:5742"^^xsd:string, "MESH:D000077192"^^xsd:string, "NCI:C27745"^^xsd:string, "NCI:C3512"^^xsd:string, "SNOMEDCT_US_2021_03_01:254626006"^^xsd:string, "UMLS_CUI:C0152013"^^xsd:string, "UMLS_CUI:C1335060"^^xsd:string ; oboInOwl:hasExactSynonym "bronchogenic lung adenocarcinoma"@en, "nonsmall cell adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of lung"@en ; oboInOwl:id "DOID:3910"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3908, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_3911 obo:IAO_0000115 "A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:7467"^^xsd:string, "ICD10CM:E34.8"^^xsd:string, "MEDDRA:10036794"^^xsd:string, "MESH:D011371"^^xsd:string, "NCI:C34951"^^xsd:string, "OMIM:176670"^^xsd:string, "ORDO:740"^^xsd:string, "SNOMEDCT_US_2021_03_01:190590004"^^xsd:string, "UMLS_CUI:C0033300"^^xsd:string ; oboInOwl:hasExactSynonym "HGPS"@en, "Hutchinson Gilford syndrome"@en, "Hutchinson-Gilford Progeria syndrome"@en, "Hutchinson-Gilford disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3911"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "progeria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_3914 oboInOwl:hasExactSynonym "Ovarian serous Cystadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3914"^^xsd:string ; a owl:Class ; rdfs:label "obsolete serous cystadenoma of ovary"^^xsd:string ; owl:deprecated true . obo:DOID_3916 oboInOwl:hasExactSynonym "Atypical proliferating serous tumour"@en, "Low Malignancy Potential serous Cystadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3916"^^xsd:string ; a owl:Class ; rdfs:label "obsolete borderline malignancy serous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_3917 oboInOwl:hasDbXref "NCI:C5712"^^xsd:string, "SNOMEDCT_US_2021_03_01:690761000119100"^^xsd:string, "UMLS_CUI:C1335316"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic serous cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3918 . obo:DOID_3918 oboInOwl:hasDbXref "NCI:C4374"^^xsd:string, "SNOMEDCT_US_2021_03_01:235967003"^^xsd:string, "UMLS_CUI:C0341486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3918"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_26, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_3919 oboInOwl:hasDbXref "NCI:C41248"^^xsd:string, "UMLS_CUI:C1518875"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3919"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic serous cystic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1795 . obo:DOID_3923 oboInOwl:hasDbXref "NCI:C6504"^^xsd:string, "UMLS_CUI:C1333298"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 . obo:DOID_3924 oboInOwl:hasDbXref "ICD10CM:C34.0"^^xsd:string, "ICD9CM:162.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:187856002"^^xsd:string, "UMLS_CUI:C0153490"^^xsd:string ; oboInOwl:hasExactSynonym "Ca main bronchus"@en, "malignant neoplasm of main bronchus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3924"^^xsd:string ; a owl:Class ; rdfs:label "main bronchus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1324 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002182 ] ) ] . obo:DOID_3925 oboInOwl:hasDbXref "NCI:C27487"^^xsd:string, "UMLS_CUI:C1336506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3925"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "steroid lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 . obo:DOID_3926 oboInOwl:hasDbXref "NCI:C27488"^^xsd:string, "UMLS_CUI:C1334662"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3926"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 . obo:DOID_3927 oboInOwl:hasDbXref "GARD:7350"^^xsd:string, "MESH:C535549"^^xsd:string, "NCI:C27486"^^xsd:string, "SNOMEDCT_US_2021_03_01:190802005"^^xsd:string, "UMLS_CUI:C0406608"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3927"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pelvic lipomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 . obo:DOID_3928 oboInOwl:hasDbXref "GARD:5750"^^xsd:string, "ICD10CM:E88.2"^^xsd:string, "MESH:D000274"^^xsd:string, "NCI:C84540"^^xsd:string, "OMIM:103200"^^xsd:string, "SNOMEDCT_US_2021_03_01:71404003"^^xsd:string, "UMLS_CUI:C0001529"^^xsd:string ; oboInOwl:hasExactSynonym "Dercum disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3928"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "adiposis dolorosa"^^xsd:string ; rdfs:subClassOf obo:DOID_3153 ; skos:exactMatch "MESH:D000274"^^xsd:string . obo:DOID_3930 obo:IAO_0000115 "An inner ear disease which involves inflammation of the inner ear."^^xsd:string ; oboInOwl:hasDbXref "UMLS_CUI:C1168225"^^xsd:string ; oboInOwl:hasExactSynonym "inner ear infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "otitis interna"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_3933 oboInOwl:hasDbXref "ICD10CM:M76.81"^^xsd:string, "MESH:D000868"^^xsd:string, "SNOMEDCT_US_2021_03_01:212379008"^^xsd:string, "UMLS_CUI:C0003152"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior compartment syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3933"^^xsd:string ; a owl:Class ; rdfs:label "anterior compartment syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_682 . obo:DOID_3939 oboInOwl:hasDbXref "NCI:C4501"^^xsd:string, "SNOMEDCT_US_2020_03_01:254828009"^^xsd:string, "UMLS_CUI:C0346117"^^xsd:string ; oboInOwl:hasExactSynonym "malignant lipomatous tumor"@en, "malignant tumor of Adipose tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3939"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NCI retired concept, merged with liposarcoma[LS]"^^xsd:string ; rdfs:label "obsolete lipomatous cancer"^^xsd:string ; owl:deprecated true . obo:DOID_3944 obo:IAO_0000115 "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3944"^^xsd:string ; a owl:Class ; rdfs:label "Arenaviridae infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934 . obo:DOID_3946 oboInOwl:hasDbXref "ICD10CM:E24.0"^^xsd:string, "MESH:D047748"^^xsd:string, "NCI:C113210"^^xsd:string, "SNOMEDCT_US_2021_03_01:190502001"^^xsd:string, "UMLS_CUI:C0221406"^^xsd:string ; oboInOwl:hasExactSynonym "Overproduction of ACTH"@en, "pituitary-dependent Cushing disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3946"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary-dependent Cushing's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2444 . obo:DOID_3947 oboInOwl:hasDbXref "MESH:D000308"^^xsd:string, "NCI:C113208"^^xsd:string, "SNOMEDCT_US_2021_03_01:47270006"^^xsd:string, "UMLS_CUI:C0001622"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenocortical hyperfunction"@en, "hyperadrenalism"@en, "hypercortisolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3947"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal gland hyperfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_9553 . obo:DOID_3948 obo:IAO_0000115 "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:558"^^xsd:string, "MESH:D018268"^^xsd:string, "NCI:C9325"^^xsd:string, "OMIM:202300"^^xsd:string, "SNOMEDCT_US_2021_03_01:255035007"^^xsd:string, "UMLS_CUI:C0206686"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal cortical carcinoma"@en, "carcinoma of the Adrenal cortex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3948"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenocortical carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_660, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ; skos:exactMatch "MESH:D018268"^^xsd:string . obo:DOID_3950 obo:IAO_0000115 "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the Adrenal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3950"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "adrenal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3953, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_3951 oboInOwl:hasDbXref "ICD10CM:I40"^^xsd:string, "ICD9CM:422"^^xsd:string, "NCI:C35206"^^xsd:string, "SNOMEDCT_US_2021_03_01:155336004"^^xsd:string, "UMLS_CUI:C0155686"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3951"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_820, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_3952 oboInOwl:hasDbXref "MESH:D000303"^^xsd:string, "SNOMEDCT_US_2021_03_01:129636003"^^xsd:string, "UMLS_CUI:C0001614"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3952"^^xsd:string ; a owl:Class ; rdfs:label "adrenal cortex disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9553 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001235 ] ) ] . obo:DOID_3953 obo:IAO_0000115 "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11007"^^xsd:string ; oboInOwl:hasDbXref "GARD:5751"^^xsd:string, "ICD10CM:C74"^^xsd:string, "ICD9CM:194.0"^^xsd:string, "MESH:D000310"^^xsd:string, "NCI:C2859"^^xsd:string, "NCI:C9338"^^xsd:string, "SNOMEDCT_US_2021_03_01:127021009"^^xsd:string, "SNOMEDCT_US_2021_03_01:93665005"^^xsd:string, "UMLS_CUI:C0001624"^^xsd:string, "UMLS_CUI:C0750887"^^xsd:string ; oboInOwl:hasExactSynonym "adrenal cancer"@en, "adrenal neoplasm"@en, "malignant Adrenal tumor"@en, "malignant neoplasm of adrenal gland"@en, "neoplasm of adrenal gland"@en, "tumor of the Adrenal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3953"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "adrenal gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_170, obo:DOID_9553 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002369 ] ) ] . obo:DOID_3959 obo:IAO_0000115 "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal cortex adenocarcinoma"@en, "Adrenal cortical adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3959"^^xsd:string ; a owl:Class ; rdfs:label "adrenal cortical adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3948, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001235 ] . obo:DOID_396 obo:IAO_0000115 "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.3"^^xsd:string, "NCI:C27044"^^xsd:string, "SNOMEDCT_US_2021_03_01:33258008"^^xsd:string, "UMLS_CUI:C0264834"^^xsd:string ; oboInOwl:hasExactSynonym "Eosinophilic Endomyocardial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:396"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Loeffler endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_397, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000262 ] . obo:DOID_3962 obo:IAO_0000115 "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018263"^^xsd:string, "NCI:C8054"^^xsd:string, "OMIM:188470"^^xsd:string, "SNOMEDCT_US_2021_03_01:255028004"^^xsd:string, "UMLS_CUI:C0206682"^^xsd:string ; oboInOwl:hasExactSynonym "Follicular adenocarcinoma"@en, "Follicular adenocarcinoma, well differentiated"@en, "Follicular carcinoma"@en, "Thyroid adenocarcinoma"@en, "follicular thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3962"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "thyroid gland follicular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080525, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000500 ] ) ] . obo:DOID_3963 obo:IAO_0000115 "A thyroid gland cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002892"^^xsd:string, "MESH:D013964"^^xsd:string, "NCI:C4815"^^xsd:string, "UMLS_CUI:C0549473"^^xsd:string ; oboInOwl:hasExactSynonym "head and neck cancer, Thyroid"@en, "thyroid gland carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3963"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1781, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002046 ] . obo:DOID_3964 oboInOwl:hasDbXref "NCI:C46095"^^xsd:string, "SNOMEDCT_US_2021_03_01:72174007"^^xsd:string, "UMLS_CUI:C0334327"^^xsd:string ; oboInOwl:hasExactSynonym "Follicular adenocarcinoma, trabecular"@en, "Trabecular Follicular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3964"^^xsd:string ; a owl:Class ; rdfs:label "trabecular follicular adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3962 . obo:DOID_3965 oboInOwl:hasDbXref "GARD:9266"^^xsd:string, "NCI:C4068"^^xsd:string, "SNOMEDCT_US_2021_03_01:29792007"^^xsd:string, "UMLS_CUI:C0302182"^^xsd:string ; oboInOwl:hasExactSynonym "Trabecular adenocarcinoma"@en, "trabecular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3965"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Merkel cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000242 ] . obo:DOID_3968 oboInOwl:hasDbXref "MESH:D018265"^^xsd:string, "NCI:C7380"^^xsd:string, "SNOMEDCT_US_2021_03_01:189643000"^^xsd:string, "UMLS_CUI:C0206683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3968"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary follicular thyroid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3969 . obo:DOID_3969 obo:IAO_0000115 "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer abd arises from the follicular cells of the thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "GARD:12027"^^xsd:string, "MESH:D000077273"^^xsd:string, "NCI:C4035"^^xsd:string, "OMIM:188550"^^xsd:string, "SNOMEDCT_US_2021_03_01:255029007"^^xsd:string, "UMLS_CUI:C0238463"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma of the Thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3969"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "thyroid gland papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080525 . obo:DOID_397 obo:IAO_0000115 "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.5"^^xsd:string, "MESH:D002313"^^xsd:string, "NCI:C62798"^^xsd:string, "OMIM:115210"^^xsd:string, "OMIM:PS115210"^^xsd:string, "ORDO:75249"^^xsd:string, "SNOMEDCT_US_2021_03_01:389996009"^^xsd:string, "UMLS_CUI:C0007196"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiomyopathy, constrictive"@en, "Restrictive cardiomyopathy"@en, "primary restrictive cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Familial restrictive cardiomyopathy"^^xsd:string, "Familial restrictive cardiomyopathy"@en ; oboInOwl:id "DOID:397"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK]."""^^xsd:string ; rdfs:label "restrictive cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_3973 obo:IAO_0000115 "A thyroid gland carcinoma that has_material_basis_in parafollicular cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536914"^^xsd:string, "NCI:C3879"^^xsd:string, "SNOMEDCT_US_2021_03_01:255032005"^^xsd:string, "UMLS_CUI:C0238462"^^xsd:string ; oboInOwl:hasExactSynonym "Medullary carcinoma of the Thyroid gland"@en, "Medullary thyroid carcinoma"@en, "Ultimobranchial thyroid tumor"@en, "Ultimobranchial thyroid tumour"@en, "medullary thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3973"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland medullary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3963 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000570 ] ) ] . obo:DOID_3974 oboInOwl:hasExactSynonym "Medullary carcinoma"@en, "Medullary carcinoma (morphologic abnormality)"@en, "Medullary carcinoma NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3974"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medullary carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3978 obo:IAO_0000115 "A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:425.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:195580005"^^xsd:string, "UMLS_CUI:C0155699"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3978"^^xsd:string ; a owl:Class ; rdfs:label "extrinsic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050700 . obo:DOID_398 oboInOwl:hasAlternativeId "DOID:1031"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis cutis"@en, "Tuberculosis of skin (disorder)"@en, "Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination"@en, "tuberculosis of skin and subcutaneous cellular tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:398"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_3981 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6564"^^xsd:string, "ICD10CM:G23.0"^^xsd:string, "MESH:D006211"^^xsd:string, "NCI:C8967"^^xsd:string, "OMIM:234200"^^xsd:string, "ORDO:157850"^^xsd:string, "SNOMEDCT_US_2021_03_01:2992000"^^xsd:string, "UMLS_CUI:C0018523"^^xsd:string ; oboInOwl:hasExactSynonym "Hallervorden-Spatz disease"@en, "Hallervorden-Spatz syndrome"@en, "NBIA1"@en, "Pigmentary pallidal degeneration"@en, "brain Iron Accumulation type I syndrome"@en, "neurodegeneration with brain iron accumulation 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3981"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pantothenate kinase-associated neurodegeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_3982 obo:IAO_0000115 "A cranio-facial dystonia that is accompanied by blepharospasm."^^xsd:string ; oboInOwl:hasDbXref "GARD:7008"^^xsd:string, "MESH:D008538"^^xsd:string, "SNOMEDCT_US_2021_03_01:230325003"^^xsd:string, "UMLS_CUI:C0025183"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3982"^^xsd:string ; a owl:Class ; rdfs:label "Meige syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050845 . obo:DOID_3983 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009814"^^xsd:string, "SNOMEDCT_US_2021_03_01:22500005"^^xsd:string, "UMLS_CUI:C0028887"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Oesophagostomum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3983"^^xsd:string ; a owl:Class ; rdfs:label "oesophagostomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000484 ] . obo:DOID_3984 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Strongylus equinus (disorder)"@en, "equine strongyle infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3984"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Strongylus equinus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_3985 obo:IAO_0000115 "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010029"^^xsd:string, "UMLS_CUI:C0029471"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3985"^^xsd:string ; a owl:Class ; rdfs:label "ostertagiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1255 . obo:DOID_399 obo:IAO_0000115 "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10096"^^xsd:string, "DOID:12688"^^xsd:string, "DOID:12691"^^xsd:string, "DOID:415"^^xsd:string, "DOID:9901"^^xsd:string, "DOID:9902"^^xsd:string ; oboInOwl:hasDbXref "GARD:7827"^^xsd:string, "MESH:D014375"^^xsd:string, "SNOMEDCT_US_2021_03_01:15202009"^^xsd:string, "UMLS_CUI:C0041295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:399"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1773 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] ; skos:exactMatch "MESH:D014376"^^xsd:string . obo:DOID_3996 obo:IAO_0000115 "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C68.9"^^xsd:string, "ICD9CM:189.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:448233000"^^xsd:string, "UMLS_CUI:C0348371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3996"^^xsd:string ; a owl:Class ; rdfs:label "urinary system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] ) ] . obo:DOID_3997 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3997"^^xsd:string ; a owl:Class ; rdfs:label "obsolete urinary tract infiltrating transitional cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_3998 obo:IAO_0000115 "A Bartholin's gland carcinoma that derives_from transitional epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40297"^^xsd:string, "UMLS_CUI:C1511053"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland transitional cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3999 . obo:DOID_3999 obo:IAO_0000115 "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9055"^^xsd:string, "SNOMEDCT_US_2021_03_01:399533005"^^xsd:string, "UMLS_CUI:C0349561"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland carcinoma"@en, "Bartholin's gland cancer"@en, "carcinoma of Bartholin's gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:3999"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294, obo:DOID_60003, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] . obo:DOID_4 obo:IAO_0000115 "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004194"^^xsd:string, "NCI:C2991"^^xsd:string, "SNOMEDCT_US_2021_03_01:64572001"^^xsd:string, "UMLS_CUI:C0012634"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "disease"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003593 ] . obo:DOID_4000 obo:IAO_0000115 "An ovarian epithelial cancer that derives_from epithelial transitional cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2637"^^xsd:string, "DOID:4002"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40089"^^xsd:string, "NCI:C5240"^^xsd:string, "NCI:C7280"^^xsd:string, "UMLS_CUI:C1335184"^^xsd:string, "UMLS_CUI:C1335185"^^xsd:string, "UMLS_CUI:C1518237"^^xsd:string ; oboInOwl:hasExactSynonym "malignant ovarian transitional cell neoplasm"@en, "ovarian transitional cell cancer"@en, "transitional cell carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ovarian transitional cell neoplasm"@en ; oboInOwl:id "DOID:4000"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2152, obo:DOID_2671, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_4001 obo:IAO_0000115 "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001075"^^xsd:string, "UMLS_CUI:C0677886"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4001"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ovarian carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2151, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4003 oboInOwl:hasDbXref "NCI:C54287"^^xsd:string, "SNOMEDCT_US_2021_03_01:5600009"^^xsd:string, "UMLS_CUI:C0334270"^^xsd:string ; oboInOwl:hasExactSynonym "Cylindrical cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Schneiderian carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1357, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4005 obo:IAO_0000115 "An endometrial carcinoma that derives_from transitional epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40154"^^xsd:string, "UMLS_CUI:C1516864"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4005"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_2871, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ] . obo:DOID_4006 obo:IAO_0000115 "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39851"^^xsd:string, "SNOMEDCT_US_2021_03_01:393562002"^^xsd:string, "UMLS_CUI:C0279680"^^xsd:string ; oboInOwl:hasExactSynonym "bladder transitional cell carcinoma"@en, "transitional cell carcinoma of bladder"@en, "urinary bladder urothelial carcinoma"@en, "urothelial bladder carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4006"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_4007, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ] . obo:DOID_4007 obo:IAO_0000115 "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000292"^^xsd:string, "NCI:C4912"^^xsd:string, "SNOMEDCT_US_2021_03_01:269607003"^^xsd:string, "UMLS_CUI:C0699885"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4007"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11054, obo:DOID_305, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_4008 obo:IAO_0000115 "A fallopian tube carcinoma that derives_from epithelial transitional cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40104"^^xsd:string, "UMLS_CUI:C1517128"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4008"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1963, obo:DOID_2671, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] . obo:DOID_4009 oboInOwl:hasExactSynonym "Urothelial carcinoma of the renal Pelvis and Ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4009"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal pelvis and ureter transitional cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_401 obo:IAO_0000115 "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018088"^^xsd:string, "NCI:C128415"^^xsd:string, "SNOMEDCT_US_2021_03_01:423092005"^^xsd:string, "UMLS_CUI:C0206526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "multidrug-resistant tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_399 . obo:DOID_4010 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4010"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal pelvis and ureter cancer"^^xsd:string ; owl:deprecated true . obo:DOID_4011 obo:IAO_0000115 "A prostate carcinoma that derives_from transitional epithelial cells."^^xsd:string ; oboInOwl:hasExactSynonym "transitional cell carcinoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4011"^^xsd:string ; a owl:Class ; rdfs:label "prostate transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10286, obo:DOID_2671, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ] . obo:DOID_4012 obo:IAO_0000115 "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4122"^^xsd:string, "SNOMEDCT_US_2021_03_01:12400006"^^xsd:string, "UMLS_CUI:C0334274"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary transitional cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4012"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary transitional carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671 . obo:DOID_4013 obo:IAO_0000115 "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6166"^^xsd:string, "UMLS_CUI:C0863015"^^xsd:string ; oboInOwl:hasExactSynonym "urethral transitional cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_734, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_4014 obo:IAO_0000115 "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4120"^^xsd:string, "SNOMEDCT_US_2021_03_01:112676006"^^xsd:string, "UMLS_CUI:C0334271"^^xsd:string ; oboInOwl:hasExactSynonym "transitional cell carcinoma, sarcomatoid"@en, "transitional spindle cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4014"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671 . obo:DOID_4015 obo:IAO_0000115 "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002277"^^xsd:string, "NCI:C27004"^^xsd:string, "SNOMEDCT_US_2021_03_01:65692009"^^xsd:string, "UMLS_CUI:C0205697"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4015"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_402 obo:IAO_0000115 "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014393"^^xsd:string, "SNOMEDCT_US_2021_03_01:235067001"^^xsd:string, "UMLS_CUI:C0041323"^^xsd:string ; oboInOwl:hasExactSynonym "Oral tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:402"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "oral tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_403, obo:DOID_404, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] . obo:DOID_4020 oboInOwl:hasExactSynonym "psychomotor disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychomotor disease"^^xsd:string ; owl:deprecated true . obo:DOID_4022 obo:IAO_0000115 "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014518"^^xsd:string, "NCI:C123159"^^xsd:string, "OMIM:191650"^^xsd:string, "SNOMEDCT_US_2021_03_01:12818004"^^xsd:string, "UMLS_CUI:C0041960"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "ureterocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1426 . obo:DOID_4023 oboInOwl:hasDbXref "MESH:D008039"^^xsd:string, "NCI:C3190"^^xsd:string, "SNOMEDCT_US_2021_03_01:307594007"^^xsd:string, "UMLS_CUI:C0023743"^^xsd:string ; oboInOwl:hasExactSynonym "Leather-bottle stomach"@en, "Linitis plastica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4023"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "linitis plastica"^^xsd:string ; rdfs:subClassOf obo:DOID_6217 . obo:DOID_4024 obo:IAO_0000115 "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002293"^^xsd:string, "NCI:C2928"^^xsd:string, "SNOMEDCT_US_2021_03_01:4584002"^^xsd:string, "UMLS_CUI:C0007135"^^xsd:string ; oboInOwl:hasExactSynonym "Scirrhous adenocarcinoma"@en, "adenocarcinoma with Productive Fibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scirrhous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_4025 oboInOwl:hasDbXref "MESH:D013231"^^xsd:string, "UMLS_CUI:C0038235"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4025"^^xsd:string ; a owl:Class ; rdfs:comment "non-human, term inherited from mesh, obsoleting:LS"^^xsd:string ; rdfs:label "obsolete steatitis"^^xsd:string ; owl:deprecated true . obo:DOID_4026 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4026"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin E deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_4027 oboInOwl:hasExactSynonym "FETAL DISTRESS"@en, "Fetal distress"@en, "Fetal distress (finding)"@en, "Fetal distress NOS"@en, "Fetal distress NOS (finding)"@en, "Fetal distress unspecified (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal distress"^^xsd:string ; owl:deprecated true . obo:DOID_4028 obo:IAO_0000115 "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L81.7"^^xsd:string, "NCI:C3926"^^xsd:string, "OMIM:106050"^^xsd:string, "OMIM:300652"^^xsd:string, "ORDO:95429"^^xsd:string, "SNOMEDCT_US_2021_03_01:49465005"^^xsd:string, "UMLS_CUI:C0263637"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma serpiginosum of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4028"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "angioma serpiginosum"^^xsd:string ; rdfs:subClassOf obo:DOID_471, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_4029 obo:IAO_0000115 "A stomach disease that is an inflammation of the lining of the stomach."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4032"^^xsd:string, "DOID:8697"^^xsd:string, "DOID:8845"^^xsd:string, "DOID:9190"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K29.7"^^xsd:string, "MESH:D005756"^^xsd:string, "NCI:C26780"^^xsd:string, "SNOMEDCT_US_2021_03_01:155711008"^^xsd:string, "UMLS_CUI:C0017152"^^xsd:string ; oboInOwl:hasExactSynonym "Erosive Gastritis"@en, "Erosive gastropathy"@en, "acute gastric mucosal erosion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_403 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the mouth."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009059"^^xsd:string, "NCI:C27641"^^xsd:string, "SNOMEDCT_US_2021_03_01:118938008"^^xsd:string, "UMLS_CUI:C0026636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:403"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mouth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_4030 oboInOwl:hasDbXref "ICD9CM:535.7"^^xsd:string, "NCI:C27052"^^xsd:string, "SNOMEDCT_US_2021_03_01:196738004"^^xsd:string, "UMLS_CUI:C0267154"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_4031 oboInOwl:hasDbXref "ICD9CM:558.41"^^xsd:string, "NCI:C35330"^^xsd:string, "SNOMEDCT_US_2021_03_01:359804008"^^xsd:string, "UMLS_CUI:C1262481"^^xsd:string ; oboInOwl:hasExactSynonym "Eosinophilic Gastroenteritis"@en, "Eosinophilic gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic gastroenteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2326 . obo:DOID_4033 obo:IAO_0000115 "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27340"^^xsd:string, "SNOMEDCT_US_2021_03_01:723096000"^^xsd:string, "UMLS_CUI:C0948039"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4033"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_4029, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000420 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4034 obo:IAO_0000115 "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27342"^^xsd:string, "SNOMEDCT_US_2021_03_01:723097009"^^xsd:string, "UMLS_CUI:C0948638"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4034"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fungal gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, obo:DOID_4029, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_4035 oboInOwl:hasDbXref "NCI:C27051"^^xsd:string, "SNOMEDCT_US_2021_03_01:235658000"^^xsd:string, "UMLS_CUI:C1283271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4035"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphocytic gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_4036 obo:IAO_0000115 "A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen."^^xsd:string ; oboInOwl:hasExactSynonym "Helicobacter gastritis"@en, "Helicobacter-associated gastritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4036"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Helicobacter pylori gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_4037 oboInOwl:hasDbXref "NCI:C27329"^^xsd:string, "UMLS_CUI:C0877152"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4037"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necrotizing gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_4038 oboInOwl:hasDbXref "ICD10CM:K29.6"^^xsd:string, "NCI:C27348"^^xsd:string, "UMLS_CUI:C1112577"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4038"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_4039 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4039"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Crohn's associated gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_404 obo:IAO_0000115 "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9802"^^xsd:string ; oboInOwl:hasDbXref "MESH:D014385"^^xsd:string, "SNOMEDCT_US_2021_03_01:154286002"^^xsd:string, "UMLS_CUI:C0041312"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of gastrointestinal tract"@en, "Tuberculosis of intestines, peritoneum and mesenteric glands"@en, "Tuberculosis of intestines, peritoneum, and mesenteric glands"@en, "tuberculosis of intestines, peritoneum and mesenteric glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:404"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "gastrointestinal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050599, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4043 oboInOwl:hasDbXref "NCI:C6516"^^xsd:string, "UMLS_CUI:C1334619"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of Skeletal Muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skeletal muscle cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4045 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002036 ] ) ] . obo:DOID_4044 oboInOwl:hasDbXref "NCI:C6514"^^xsd:string, "SNOMEDCT_US_2021_03_01:699955004"^^xsd:string, "UMLS_CUI:C1335971"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Skeletal Muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skeletal muscle neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_461 . obo:DOID_4045 obo:IAO_0000115 "A musculoskeletal system cancer that is located_in muscle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4046"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C49"^^xsd:string, "MESH:D009217"^^xsd:string, "MESH:D019042"^^xsd:string, "NCI:C4883"^^xsd:string, "SNOMEDCT_US_2021_03_01:20667008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93913006"^^xsd:string, "UMLS_CUI:C0027095"^^xsd:string, "UMLS_CUI:C0684743"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of muscle"@en, "malignant tumor of muscle"@en, "malignant tumor of the Muscle"@en, "myosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4045"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "muscle cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060100, obo:DOID_0080000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_4047 obo:IAO_0000115 "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5834"^^xsd:string, "UMLS_CUI:C1333975"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4047"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_270 . obo:DOID_4048 oboInOwl:hasDbXref "NCI:C5464"^^xsd:string, "UMLS_CUI:C1332891"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4048"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247, obo:DOID_3620, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_4049 obo:IAO_0000115 "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6617"^^xsd:string, "UMLS_CUI:C1334677"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_4050 obo:IAO_0000115 "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6606"^^xsd:string, "UMLS_CUI:C1334678"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4050"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5559, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_4051 oboInOwl:hasAlternativeId "DOID:4382"^^xsd:string ; oboInOwl:hasDbXref "GARD:4701"^^xsd:string, "MESH:D018232"^^xsd:string, "NCI:C3749"^^xsd:string, "NCI:C7958"^^xsd:string, "OMIM:268220"^^xsd:string, "SNOMEDCT_US_2021_03_01:404053004"^^xsd:string, "UMLS_CUI:C0206655"^^xsd:string, "UMLS_CUI:C0279613"^^xsd:string ; oboInOwl:hasExactSynonym "Alveolar rhabdomyosarcoma"@en, "alveolar childhood rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4051"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alveolar rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_4052 oboInOwl:hasExactSynonym "relapsed Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rhabdomyosarcoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_4053 obo:IAO_0000115 "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5627"^^xsd:string, "UMLS_CUI:C1335687"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4053"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1995 . obo:DOID_4054 obo:IAO_0000115 "A prostate cancer that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7731"^^xsd:string, "UMLS_CUI:C0238393"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_1115, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_4055 oboInOwl:hasDbXref "NCI:C4716"^^xsd:string, "SNOMEDCT_US_2021_03_01:128750008"^^xsd:string, "UMLS_CUI:C0431111"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma with ganglionic differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4055"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ectomesenchymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_502 . obo:DOID_4056 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4056"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4057 obo:IAO_0000115 "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5839"^^xsd:string, "UMLS_CUI:C1333756"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4057"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3121, obo:DOID_3247, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_4058 obo:IAO_0000115 "A sarcoma that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5736"^^xsd:string, "UMLS_CUI:C1333757"^^xsd:string ; oboInOwl:hasExactSynonym "malignant mesenchymal tumor of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4058"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_4059 obo:IAO_0000115 "An ovary sarcoma that arises from skeletal muscle progenitors."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5236"^^xsd:string, "UMLS_CUI:C1335176"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4059"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_4060 obo:IAO_0000115 "A breast sarcoma that arises from skeletal muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5190"^^xsd:string, "UMLS_CUI:C1332637"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_4061 obo:IAO_0000115 "A testis sarcoma that arises from mesenchymal cells and is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6378"^^xsd:string, "UMLS_CUI:C1336726"^^xsd:string ; oboInOwl:hasExactSynonym "Rhabdomyosarcoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4061"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testis rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4062 . obo:DOID_4062 obo:IAO_0000115 "A sarcoma and malignant neoplasm of testis that is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6359"^^xsd:string, "UMLS_CUI:C1336727"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4062"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testis sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_2998, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_4064 obo:IAO_0000115 "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5029"^^xsd:string, "UMLS_CUI:C2205442"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4064"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_4606, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_4065 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:62383007"^^xsd:string, "UMLS_CUI:C0334481"^^xsd:string ; oboInOwl:hasExactSynonym "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma"@en, "mixed type Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4065"^^xsd:string ; a owl:Class ; rdfs:label "mixed type rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3247 . obo:DOID_4066 obo:IAO_0000115 "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5610"^^xsd:string, "UMLS_CUI:C1332276"^^xsd:string ; oboInOwl:hasExactSynonym "rhabdomyosarcoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4066"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14110, obo:DOID_3247, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] . obo:DOID_4067 obo:IAO_0000115 "A sarcoma and malignant neoplasm of anus that is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5611"^^xsd:string, "UMLS_CUI:C1332277"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4067"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_14110, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_407 obo:IAO_0000115 "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014386"^^xsd:string, "SNOMEDCT_US_2021_03_01:186273003"^^xsd:string, "UMLS_CUI:C0041313"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:407"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "hepatic tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_404, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_4071 oboInOwl:hasDbXref "MESH:D004383"^^xsd:string, "SNOMEDCT_US_2021_03_01:9733003"^^xsd:string, "UMLS_CUI:C0013299"^^xsd:string ; oboInOwl:hasExactSynonym "Duodenogastric reflux"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4071"^^xsd:string ; a owl:Class ; rdfs:label "duodenogastric reflux"^^xsd:string ; rdfs:subClassOf obo:DOID_4072 . obo:DOID_4072 oboInOwl:hasDbXref "MESH:D004378"^^xsd:string, "SNOMEDCT_US_2021_03_01:196598004"^^xsd:string, "UMLS_CUI:C0013289"^^xsd:string ; oboInOwl:hasExactSynonym "duodenal disease"@en, "duodenum disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4072"^^xsd:string ; a owl:Class ; rdfs:label "duodenum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] ) ] . obo:DOID_4073 oboInOwl:hasDbXref "NCI:C3874"^^xsd:string, "SNOMEDCT_US_2021_03_01:235966007"^^xsd:string, "UMLS_CUI:C0238337"^^xsd:string ; oboInOwl:hasExactSynonym "cystadenocarcinoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4073"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4074 . obo:DOID_4074 obo:IAO_0000115 "A pancreatic carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8294"^^xsd:string, "SNOMEDCT_US_2021_03_01:700423003"^^xsd:string, "UMLS_CUI:C0281361"^^xsd:string ; oboInOwl:hasExactSynonym "pancreas adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the pancreas"@en ; oboInOwl:id "DOID:4074"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4905, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4075 oboInOwl:hasDbXref "NCI:C4130"^^xsd:string, "SNOMEDCT_US_2021_03_01:50422007"^^xsd:string, "UMLS_CUI:C0334286"^^xsd:string ; oboInOwl:hasExactSynonym "biliary cystadenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4075"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4896 . obo:DOID_4076 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4076"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pleomorphic adenoma of the breast"^^xsd:string ; owl:deprecated true . obo:DOID_4077 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasizing mixed tumor of salivary gland"^^xsd:string ; owl:deprecated true . obo:DOID_4078 obo:IAO_0000115 "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014264"^^xsd:string, "NCI:C50783"^^xsd:string, "SNOMEDCT_US_2021_03_01:49915006"^^xsd:string, "UMLS_CUI:C0040963"^^xsd:string ; oboInOwl:hasExactSynonym "Tricuspid stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4078"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tricuspid valve stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050826, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001718 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0006685 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000262 ] . obo:DOID_4079 obo:IAO_0000115 "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:989"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006349"^^xsd:string, "MESH:D016127"^^xsd:string, "NCI:C45525"^^xsd:string, "SNOMEDCT_US_2021_03_01:368009"^^xsd:string, "SNOMEDCT_US_2021_03_01:398995000"^^xsd:string, "UMLS_CUI:C0018824"^^xsd:string, "UMLS_CUI:C0079485"^^xsd:string ; oboInOwl:hasExactSynonym "Valvular heart disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4079"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000946 ] ) ] . obo:DOID_4080 obo:IAO_0000115 "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014262"^^xsd:string, "NCI:C50842"^^xsd:string, "SNOMEDCT_US_2021_03_01:111287006"^^xsd:string, "UMLS_CUI:C0040961"^^xsd:string ; oboInOwl:hasExactSynonym "Tricuspid incompetence"@en, "Tricuspid regurgitation"@en, "Tricuspid valve regurgitation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tricuspid valve insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050826, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_4084 oboInOwl:hasDbXref "NCI:C39934"^^xsd:string, "UMLS_CUI:C1515301"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4084"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular trophoblastic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2998, obo:DOID_4085, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000351 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_4085 obo:IAO_0000115 "A germ cell and embryonal cancer that derives_from trophoblastic tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014328"^^xsd:string, "NCI:C3422"^^xsd:string, "SNOMEDCT_US_2021_03_01:115234004"^^xsd:string, "UMLS_CUI:C0041182"^^xsd:string ; oboInOwl:hasExactSynonym "Trophoblastic neoplasm"@en, "Trophoblastic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4085"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trophoblastic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3095 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000351 ] ) ] . obo:DOID_4086 oboInOwl:hasDbXref "NCI:C9313"^^xsd:string, "UMLS_CUI:C1336724"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4086"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular germ cell tumor non-seminomatous"^^xsd:string ; rdfs:subClassOf obo:DOID_5557 . obo:DOID_4087 oboInOwl:hasDbXref "NCI:C39915"^^xsd:string, "UMLS_CUI:C1514608"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4087"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular pure germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5557 . obo:DOID_4088 obo:IAO_0000115 "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4088"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Torovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_409 oboInOwl:hasAlternativeId "DOID:2164"^^xsd:string, "DOID:2165"^^xsd:string, "DOID:46"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K76.9"^^xsd:string, "ICD9CM:573.9"^^xsd:string, "MESH:D008107"^^xsd:string, "NCI:C3196"^^xsd:string, "SNOMEDCT_US_2021_03_01:62857009"^^xsd:string, "UMLS_CUI:C0023895"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of liver"@en, "hepatic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:409"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_4090 obo:IAO_0000115 "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4019"^^xsd:string ; oboInOwl:hasDbXref "GARD:8"^^xsd:string, "ICD10CM:R48.1"^^xsd:string, "MESH:D000377"^^xsd:string, "NCI:C84542"^^xsd:string, "SNOMEDCT_US_2021_03_01:42341009"^^xsd:string, "UMLS_CUI:C0001816"^^xsd:string ; oboInOwl:hasExactSynonym "Dyspraxia"@en, "Dyspraxia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4090"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_2033 ; skos:exactMatch "MESH:D000377"^^xsd:string . obo:DOID_4091 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Caliciviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4092 obo:IAO_0000115 "A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact."^^xsd:string ; oboInOwl:hasExactSynonym "VES"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vesicular exanthema of swine"^^xsd:string ; owl:deprecated true . obo:DOID_4099 oboInOwl:hasExactSynonym "metastatic squamous cell carcinoma"@en, "metastatic squamous cell carcinoma (disorder)"@en, "squamous cell carcinoma, metastatic (morphologic abnormality)"@en, "squamous cell carcinoma, metastatic NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4099"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_410 oboInOwl:hasExactSynonym "Tuberculous Ascites"@en, "Tuberculous ascites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:410"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous ascites"^^xsd:string ; owl:deprecated true . obo:DOID_4102 oboInOwl:hasExactSynonym "secondary carcinoma"@en, "secondary carcinoma NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4104 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract."^^xsd:string ; oboInOwl:hasExactSynonym "cattle plague"@en, "steppe murrain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rinderpest"^^xsd:string ; owl:deprecated true . obo:DOID_4105 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete canine distemper"^^xsd:string ; owl:deprecated true . obo:DOID_4106 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4106"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Bacteroidaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4107 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4107"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Flavobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4109 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013984"^^xsd:string, "UMLS_CUI:C0040196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4109"^^xsd:string ; a owl:Class ; rdfs:label "tick infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_411 oboInOwl:hasExactSynonym "Bovine tuberculosis (disorder)"@en, "Infection due to Mycobacterium bovis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:411"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete bovine tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_4110 obo:IAO_0000115 "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004478"^^xsd:string, "UMLS_CUI:C0013578"^^xsd:string ; oboInOwl:hasExactSynonym "ectoparasitism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4110"^^xsd:string ; a owl:Class ; rdfs:label "parasitic ectoparasitic infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1398 . obo:DOID_4111 obo:IAO_0000115 "A cervical carcinosarcoma that is located_in the cervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40229"^^xsd:string, "SNOMEDCT_US_2021_03_01:764847000"^^xsd:string, "UMLS_CUI:C1516426"^^xsd:string ; oboInOwl:hasExactSynonym "cervical Muellerian adenosarcoma"@en, "cervical Mullerian adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4111"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4112 . obo:DOID_4112 obo:IAO_0000115 "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4431"^^xsd:string, "DOID:6173"^^xsd:string ; oboInOwl:hasDbXref "NCI:C36097"^^xsd:string, "NCI:C40226"^^xsd:string, "NCI:C40228"^^xsd:string, "SNOMEDCT_US_2021_03_01:764951002"^^xsd:string, "UMLS_CUI:C1332917"^^xsd:string, "UMLS_CUI:C1516420"^^xsd:string, "UMLS_CUI:C1518168"^^xsd:string ; oboInOwl:hasExactSynonym "cervical malignant mixed Mullerian tumor"@en, "cervical malignant mixed mesodermal mullerian tumor"@en, "cervical mixed epithelial and mesenchymal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4362 . obo:DOID_4113 obo:IAO_0000115 "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6336"^^xsd:string, "UMLS_CUI:C1336917"^^xsd:string ; oboInOwl:hasExactSynonym "uterine Corpus mullerian adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenosarcoma of uterine corpus"@en ; oboInOwl:id "DOID:4113"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4114, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_4114 obo:IAO_0000115 "A uterine corpus cancer that has_material_basis_in more than one type of cell."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6311"^^xsd:string, "UMLS_CUI:C1334628"^^xsd:string ; oboInOwl:hasExactSynonym "malignant mixed tumor of Corpus Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4114"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine body mixed cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_9460 . obo:DOID_4115 obo:IAO_0000115 "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7317"^^xsd:string, "UMLS_CUI:C1335169"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian mullerian Adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4115"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mesodermal adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6170 . obo:DOID_4117 obo:IAO_0000115 "A vaginal carcinosarcoma derives_from the glands that line the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40277"^^xsd:string, "UMLS_CUI:C1519914"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal adenosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_136 . obo:DOID_4118 oboInOwl:hasDbXref "NCI:C5697"^^xsd:string, "UMLS_CUI:C1333097"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic neuroendocrine tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_235 . obo:DOID_4119 oboInOwl:hasDbXref "NCI:C5695"^^xsd:string, "UMLS_CUI:C1334231"^^xsd:string ; oboInOwl:hasExactSynonym "intestinal neuroendocrine benign tumour"@en, "neuroendocrine tumor of Intestine"@en, "neuroendocrine tumour of Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal neuroendocrine benign tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4610 . obo:DOID_412 oboInOwl:hasExactSynonym "Atypical mycobacterium infection NOS"@en, "Infection due to mycobacterium, non-TB"@en, "Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder)"@en, "Mycobacterial infection, NOS (excluding tuberculosis and leprosy)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:412"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete atypical Mycobacterium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4121 obo:IAO_0000115 "A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4121"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete West Nile virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4123 obo:IAO_0000115 "An integumentary system disease that is located_in nail."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L60"^^xsd:string, "ICD9CM:703"^^xsd:string, "MESH:D009260"^^xsd:string, "SNOMEDCT_US_2021_03_01:17790008"^^xsd:string, "UMLS_CUI:C0027339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4123"^^xsd:string ; a owl:Class ; rdfs:label "nail disease"^^xsd:string ; rdfs:subClassOf obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] ) ] . obo:DOID_413 obo:IAO_0000115 "A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense."^^xsd:string ; oboInOwl:hasExactSynonym "Avian tuberculosis (disorder)"@en, "Infection due to Mycobacterium avium (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:413"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete avian tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_4131 obo:IAO_0000115 "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L08.1"^^xsd:string, "MESH:D004894"^^xsd:string, "SNOMEDCT_US_2021_03_01:266185008"^^xsd:string, "UMLS_CUI:C0014752"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Corynebacterium minutissimum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4131"^^xsd:string ; a owl:Class ; rdfs:label "erythrasma"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 . obo:DOID_4136 oboInOwl:hasDbXref "MESH:D009236"^^xsd:string, "NCI:C3255"^^xsd:string, "SNOMEDCT_US_2021_03_01:28351005"^^xsd:string, "UMLS_CUI:C0027155"^^xsd:string ; oboInOwl:hasExactSynonym "Myxosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4136"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_4137 oboInOwl:hasDbXref "MESH:D003137"^^xsd:string, "UMLS_CUI:C0009440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4137"^^xsd:string ; a owl:Class ; rdfs:label "common bile duct disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001174 ] ) ] . obo:DOID_4138 oboInOwl:hasDbXref "MESH:D001649"^^xsd:string, "NCI:C96716"^^xsd:string, "SNOMEDCT_US_2021_03_01:118926004"^^xsd:string, "UMLS_CUI:C0005395"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct disorder"@en, "disorder of bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9741 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] ) ] . obo:DOID_414 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:414"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cardiovascular tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_4140 obo:IAO_0000115 "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4139"^^xsd:string ; oboInOwl:hasDbXref "MESH:D001657"^^xsd:string, "SNOMEDCT_US_2021_03_01:43469007"^^xsd:string, "UMLS_CUI:C0005416"^^xsd:string ; oboInOwl:hasExactSynonym "sphincter of oddi dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4140"^^xsd:string ; a owl:Class ; rdfs:label "biliary dyskinesia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_4141 obo:IAO_0000115 "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C6778"^^xsd:string, "UMLS_CUI:C1334261"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4141"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraorbital meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_4143 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004088 ] ) ] . obo:DOID_4142 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4142"^^xsd:string ; a owl:Class ; rdfs:label "obsolete meningioma by site"^^xsd:string ; owl:deprecated true . obo:DOID_4143 obo:IAO_0000115 "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9984"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.6"^^xsd:string, "ICD9CM:190.1"^^xsd:string, "MESH:D009918"^^xsd:string, "NCI:C3290"^^xsd:string, "NCI:C3562"^^xsd:string, "SNOMEDCT_US_2021_03_01:127003006"^^xsd:string, "SNOMEDCT_US_2021_03_01:363462005"^^xsd:string, "UMLS_CUI:C0029185"^^xsd:string, "UMLS_CUI:C0153626"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of orbit"@en, "neoplasm of orbit proper"@en, "orbit cancer"@en, "orbital tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbital cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184, obo:DOID_930, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000896 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004088 ] ) ] . obo:DOID_4144 oboInOwl:hasExactSynonym "Herpes zoster dermatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4144"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster dermatitis"^^xsd:string ; owl:deprecated true . obo:DOID_4147 oboInOwl:hasDbXref "NCI:C36207"^^xsd:string, "UMLS_CUI:C0948101"^^xsd:string ; oboInOwl:hasExactSynonym "GI adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4147"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastrointestinal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_4148 oboInOwl:hasDbXref "NCI:C27721"^^xsd:string, "UMLS_CUI:C1333799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastrointestinal neuroendocrine benign tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 . obo:DOID_4151 obo:IAO_0000115 "A chordoma that is located_in the skull base."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5453"^^xsd:string, "UMLS_CUI:C1335975"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoma of the Skull Base"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skull base chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3302 . obo:DOID_4152 obo:IAO_0000115 "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6902"^^xsd:string, "SNOMEDCT_US_2021_03_01:128784007"^^xsd:string, "UMLS_CUI:C1266173"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroid chordoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4152"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroid chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3302 . obo:DOID_4153 obo:IAO_0000115 "A chordoma that derives_from the spine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5156"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoma of Spine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4153"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_3302, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_4154 oboInOwl:hasDbXref "GARD:6258"^^xsd:string, "ICD10CM:K00.5"^^xsd:string, "MESH:D003811"^^xsd:string, "NCI:C84667"^^xsd:string, "OMIM:125490"^^xsd:string, "OMIM:125500"^^xsd:string, "ORDO:49042"^^xsd:string, "SNOMEDCT_US_2021_03_01:367461002"^^xsd:string, "UMLS_CUI:C0011436"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4154"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "dentinogenesis imperfecta"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_4156 obo:IAO_0000115 "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:091"^^xsd:string, "SNOMEDCT_US_2021_03_01:186846005"^^xsd:string, "UMLS_CUI:C0153139"^^xsd:string ; oboInOwl:hasExactSynonym "Symptomatic early syphilis"@en, "early symptomatic syphilis"@en, "early syphilis, symptomatic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4156"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "primary syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_4166, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_4157 obo:IAO_0000115 "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12122"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:091.9"^^xsd:string, "MESH:C536773"^^xsd:string, "NCI:C128413"^^xsd:string, "SNOMEDCT_US_2021_03_01:154382002"^^xsd:string, "UMLS_CUI:C0149985"^^xsd:string ; oboInOwl:hasExactSynonym "secondary syphilis of viscera or bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "secondary syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_4166, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_4159 obo:IAO_0000115 "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10421"^^xsd:string, "MESH:D012878"^^xsd:string, "NCI:C2920"^^xsd:string, "SNOMEDCT_US_2021_03_01:94047004"^^xsd:string, "UMLS_CUI:C0007114"^^xsd:string ; oboInOwl:hasExactSynonym "CA - skin cancer"@en, "malignant neoplasm of skin"@en, "melanoma and Non-melanoma skin cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of skin"@en ; oboInOwl:id "DOID:4159"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "skin cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060122, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_4160 oboInOwl:hasDbXref "NCI:C42048"^^xsd:string, "UMLS_CUI:C1511934"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4160"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "differentiating neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_769 . obo:DOID_4161 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4161"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4163 oboInOwl:hasDbXref "MESH:D018305"^^xsd:string, "NCI:C3790"^^xsd:string, "SNOMEDCT_US_2021_03_01:116381000119105"^^xsd:string, "UMLS_CUI:C0206718"^^xsd:string ; oboInOwl:hasExactSynonym "Ganglioneuroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4163"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_769 . obo:DOID_4164 obo:IAO_0000115 "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4826"^^xsd:string, "SNOMEDCT_US_2021_03_01:281560004"^^xsd:string, "UMLS_CUI:C0559458"^^xsd:string ; oboInOwl:hasExactSynonym "neuroblastoma of Cerebrum"@en, "neuroblastoma of brain"@en, "neuroblastoma of the cerebral hemisphere"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4164"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_368, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_4165 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4165"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regional neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4166 obo:IAO_0000115 "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11095"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A51.0"^^xsd:string, "MESH:D002601"^^xsd:string, "SNOMEDCT_US_2021_03_01:736686006"^^xsd:string, "UMLS_CUI:C0007939"^^xsd:string ; oboInOwl:hasExactSynonym "syphilitic chancre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4166"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_161 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000013 obo:TRANS_0000018 ) ] ] . obo:DOID_417 obo:IAO_0000115 "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues."^^xsd:string ; obo:OBI_9991118 "autoimmune disease"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:720"^^xsd:string, "OMIM:109100"^^xsd:string, "UMLS_CUI:C0003089"^^xsd:string ; oboInOwl:hasExactSynonym "autoimmune hypersensitivity disease"@en, "hypersensitivity reaction type II disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:417"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "autoimmune disease"^^xsd:string ; rdfs:subClassOf obo:DOID_612 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] ) ] . obo:DOID_4170 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4170"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized resectable neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4172 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4172"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized unresectable neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4173 oboInOwl:hasExactSynonym "metastatic neuroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4173"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4175 oboInOwl:hasDbXref "MESH:D012203"^^xsd:string, "NCI:C113150"^^xsd:string, "SNOMEDCT_US_2021_03_01:199580004"^^xsd:string, "UMLS_CUI:C0035404"^^xsd:string ; oboInOwl:hasExactSynonym "Rh incompatibility affecting management of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Rh isoimmunization"^^xsd:string ; rdfs:subClassOf obo:DOID_4176 . obo:DOID_4176 oboInOwl:hasDbXref "MESH:D001787"^^xsd:string, "UMLS_CUI:C0005806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4176"^^xsd:string ; a owl:Class ; rdfs:label "blood group incompatibility"^^xsd:string ; rdfs:subClassOf obo:DOID_74 . obo:DOID_418 obo:IAO_0000115 "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000717"^^xsd:string, "GARD:9748"^^xsd:string, "ICD10CM:M34.0"^^xsd:string, "ICD9CM:710.1"^^xsd:string, "MESH:D012595"^^xsd:string, "NCI:C72070"^^xsd:string, "OMIM:181750"^^xsd:string, "SNOMEDCT_US_2021_03_01:89155008"^^xsd:string, "UMLS_CUI:C0036421"^^xsd:string ; oboInOwl:hasExactSynonym "Scleroderma"@en, "Scleroderma syndrome"@en, "progressive systemic sclerosis"@en, "systemic sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:418"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "systemic scleroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_419, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000769 ] . obo:DOID_4183 oboInOwl:hasDbXref "GARD:7860"^^xsd:string, "MESH:D011556"^^xsd:string, "NCI:C129722"^^xsd:string, "OMIM:612463"^^xsd:string, "SNOMEDCT_US_2021_03_01:190867002"^^xsd:string, "UMLS_CUI:C0033835"^^xsd:string ; oboInOwl:hasExactSynonym "Normocalcemic pseudohypoparathyroidism"@en, "Pseudopseudohypoparathyroidism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudopseudohypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_4184 . obo:DOID_4184 oboInOwl:hasDbXref "GARD:10758"^^xsd:string, "ICD10CM:E20.1"^^xsd:string, "MESH:D011547"^^xsd:string, "NCI:C99027"^^xsd:string, "OMIM:612462"^^xsd:string, "SNOMEDCT_US_2021_03_01:190867002"^^xsd:string, "UMLS_CUI:C0033806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudohypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_896 ; skos:exactMatch "MESH:D011547"^^xsd:string . obo:DOID_4186 obo:IAO_0000115 "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001184"^^xsd:string, "SNOMEDCT_US_2021_03_01:8187005"^^xsd:string, "UMLS_CUI:C0003910"^^xsd:string ; oboInOwl:hasExactSynonym "Articulation impairment"@en, "Phonological disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4186"^^xsd:string ; a owl:Class ; rdfs:label "articulation disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_92 . obo:DOID_4188 obo:IAO_0000115 "A speech disorder that involves the automatic repetition of vocalizations made by another person."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004454"^^xsd:string, "NCI:C97166"^^xsd:string, "SNOMEDCT_US_2021_03_01:64712007"^^xsd:string, "UMLS_CUI:C0013528"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4188"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "echolalia"^^xsd:string ; rdfs:subClassOf obo:DOID_92 . obo:DOID_4189 obo:IAO_0000115 "A speech disorder that involves a complete inability to speak."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009155"^^xsd:string, "SNOMEDCT_US_2021_03_01:267771000"^^xsd:string, "UMLS_CUI:C0026884"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4189"^^xsd:string ; a owl:Class ; rdfs:label "mutism"^^xsd:string ; rdfs:subClassOf obo:DOID_92 . obo:DOID_419 obo:IAO_0000115 "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012594"^^xsd:string, "NCI:C26746"^^xsd:string, "SNOMEDCT_US_2021_03_01:201440007"^^xsd:string, "UMLS_CUI:C0011644"^^xsd:string ; oboInOwl:hasExactSynonym "dermatosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:419"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scleroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_1575 . obo:DOID_4193 oboInOwl:hasAlternativeId "DOID:12751"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:434.0"^^xsd:string, "MESH:D020767"^^xsd:string, "SNOMEDCT_US_2021_03_01:155401002"^^xsd:string, "UMLS_CUI:C0079102"^^xsd:string, "UMLS_CUI:C0752143"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4193"^^xsd:string ; a owl:Class ; rdfs:label "intracranial thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060903, obo:DOID_6713 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_4194 oboInOwl:hasDbXref "MESH:D044882"^^xsd:string, "NCI:C53655"^^xsd:string, "SNOMEDCT_US_2021_03_01:126877002"^^xsd:string, "UMLS_CUI:C1257958"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of glucose metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4194"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glucose metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050013 . obo:DOID_4195 oboInOwl:hasDbXref "ICD10CM:R73.9"^^xsd:string, "MESH:D006943"^^xsd:string, "NCI:C26797"^^xsd:string, "SNOMEDCT_US_2021_03_01:144187006"^^xsd:string, "UMLS_CUI:C0020456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperglycemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4194 . obo:DOID_4196 obo:IAO_0000115 "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G57.2"^^xsd:string, "MESH:D020428"^^xsd:string, "NCI:C27595"^^xsd:string, "SNOMEDCT_US_2021_03_01:25690000"^^xsd:string, "UMLS_CUI:C0751931"^^xsd:string ; oboInOwl:hasExactSynonym "Femoral nerve lesions"@en, "femoral nerve dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4196"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "femoral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1188 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001267 ] ) ] . obo:DOID_420 obo:IAO_0000115 "A hair disease characterized by hair growth that is abnormal in quantity or location."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L68"^^xsd:string, "MESH:D006983"^^xsd:string, "NCI:C79597"^^xsd:string, "ORDO:79365"^^xsd:string, "SNOMEDCT_US_2021_03_01:201164001"^^xsd:string, "UMLS_CUI:C0020555"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:420"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertrichosis"^^xsd:string ; rdfs:subClassOf obo:DOID_421 . obo:DOID_4200 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4200"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Bifidobacteriales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4201 oboInOwl:hasDbXref "MESH:D020427"^^xsd:string, "NCI:C27596"^^xsd:string, "UMLS_CUI:C0747533"^^xsd:string ; oboInOwl:hasExactSynonym "Peroneal Neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peroneal neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_4202 obo:IAO_0000115 "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8501"^^xsd:string, "SNOMEDCT_US_2021_03_01:444545003"^^xsd:string, "UMLS_CUI:C0677865"^^xsd:string ; oboInOwl:hasExactSynonym "Brainstem Neuroglial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain stem glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_4203, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] . obo:DOID_4203 oboInOwl:hasAlternativeId "DOID:13974"^^xsd:string, "DOID:4204"^^xsd:string, "DOID:4208"^^xsd:string ; oboInOwl:hasDbXref "GARD:8244"^^xsd:string, "ICD10CM:C71.7"^^xsd:string, "ICD9CM:191.7"^^xsd:string, "MESH:D020295"^^xsd:string, "NCI:C3570"^^xsd:string, "NCI:C4869"^^xsd:string, "NCI:C4975"^^xsd:string, "NCI:C5967"^^xsd:string, "SNOMEDCT_US_2021_03_01:126961004"^^xsd:string, "SNOMEDCT_US_2021_03_01:93726004"^^xsd:string, "UMLS_CUI:C0153641"^^xsd:string, "UMLS_CUI:C0677866"^^xsd:string, "UMLS_CUI:C0751886"^^xsd:string, "UMLS_CUI:C1332192"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of brain stem"@en, "malignant neoplasm of brainstem"@en, "neoplasm of adult brain stem"@en, "neoplasm of brain stem"@en, "primary brain Stem tumor"@en, "primary brain stem neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain stem cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4706 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] ) ] . obo:DOID_4205 oboInOwl:hasAlternativeId "DOID:12786"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.6"^^xsd:string, "ICD9CM:191.6"^^xsd:string, "MESH:D002528"^^xsd:string, "NCI:C2935"^^xsd:string, "NCI:C3569"^^xsd:string, "SNOMEDCT_US_2021_03_01:126960003"^^xsd:string, "SNOMEDCT_US_2021_03_01:449420002"^^xsd:string, "UMLS_CUI:C0007762"^^xsd:string, "UMLS_CUI:C0153640"^^xsd:string ; oboInOwl:hasExactSynonym "cerebellar cancer"@en, "malignant tumor of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2786, obo:DOID_4706 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] ) ] . obo:DOID_4206 obo:IAO_0000115 "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5969"^^xsd:string, "UMLS_CUI:C1332951"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric tumor of Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4206"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood brain stem neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4203, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4207 obo:IAO_0000115 "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5802"^^xsd:string, "UMLS_CUI:C1332973"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Infratentorial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4207"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood infratentorial neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4203, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4209 oboInOwl:hasDbXref "NCI:C5295"^^xsd:string, "UMLS_CUI:C1332612"^^xsd:string ; oboInOwl:hasExactSynonym "Intraparenchymal Clear cell meningioma of the Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brainstem intraparenchymal clear cell meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4210 . obo:DOID_421 obo:IAO_0000115 "An integumentary system disease that is located_in hair."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006201"^^xsd:string, "NCI:C34656"^^xsd:string, "SNOMEDCT_US_2021_03_01:267862002"^^xsd:string, "UMLS_CUI:C0018500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:421"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hair disease"^^xsd:string ; rdfs:subClassOf obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ] ) ] . obo:DOID_4210 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4722"^^xsd:string, "SNOMEDCT_US_2021_03_01:134213009"^^xsd:string, "UMLS_CUI:C0431121"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_4211 oboInOwl:hasDbXref "NCI:C6775"^^xsd:string, "UMLS_CUI:C1335448"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Posterior Cranial Fossa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior cranial fossa meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008788 ] ) ] . obo:DOID_4217 obo:IAO_0000115 "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001948"^^xsd:string, "NCI:C4270"^^xsd:string, "SNOMEDCT_US_2021_03_01:42194009"^^xsd:string, "UMLS_CUI:C0334495"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4217"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ovarian Brenner tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2151 . obo:DOID_422 oboInOwl:hasDbXref "MESH:D020914"^^xsd:string, "NCI:C84648"^^xsd:string, "UMLS_CUI:C0752282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:422"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital structural myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_4223 obo:IAO_0000115 "A dermatitis that is characterized by a pyogenic infection causing the formation of pus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L08.0"^^xsd:string, "ICD9CM:686.0"^^xsd:string, "MESH:D011711"^^xsd:string, "SNOMEDCT_US_2021_03_01:267838007"^^xsd:string, "UMLS_CUI:C0034212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4223"^^xsd:string ; a owl:Class ; rdfs:label "pyoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_4224 obo:IAO_0000115 "A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body."^^xsd:string ; oboInOwl:hasExactSynonym "adult sarcoma of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4224"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult soft tissue sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4226 obo:IAO_0000115 "An endometrial stromal tumor that has_material_basis in connective tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:6339"^^xsd:string, "MESH:D018203"^^xsd:string, "NCI:C8973"^^xsd:string, "SNOMEDCT_US_2021_03_01:70555003"^^xsd:string, "UMLS_CUI:C0206630"^^xsd:string ; oboInOwl:hasExactSynonym "ESS"@en, "Undifferentiated endometrial sarcoma"@en, "endometrial stromal sarcoma, high grade"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4226"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5166 . obo:DOID_4227 obo:IAO_0000115 "A uterine corpus sarcoma that has_material_basis in the connective tissue of the uterine lining."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1374"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40219"^^xsd:string, "UMLS_CUI:C1519849"^^xsd:string ; oboInOwl:hasExactSynonym "uterine corpus endometrial stromal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4227"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus endometrial stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5165 . obo:DOID_4228 oboInOwl:hasExactSynonym "Stromal sarcoma"@en, "Stromal sarcoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete stromal sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_423 obo:IAO_0000115 "A muscular disease in which the muscle fibers do not function resulting in muscular weakness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G72.9"^^xsd:string, "ICD9CM:359.9"^^xsd:string, "MESH:D009135"^^xsd:string, "NCI:C101216"^^xsd:string, "SNOMEDCT_US_2021_03_01:155094005"^^xsd:string, "UMLS_CUI:C0026848"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:423"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_66, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_4230 oboInOwl:hasDbXref "NCI:C6511"^^xsd:string, "UMLS_CUI:C1334620"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of Smooth Muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "smooth muscle cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4045 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001135 ] ) ] . obo:DOID_4231 oboInOwl:hasDbXref "MESH:D051642"^^xsd:string, "NCI:C35765"^^xsd:string, "SNOMEDCT_US_2021_03_01:154614002"^^xsd:string, "UMLS_CUI:C1509147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4231"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_4232 obo:IAO_0000115 "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27293"^^xsd:string, "ORDO:370334"^^xsd:string, "UMLS_CUI:C1333514"^^xsd:string ; oboInOwl:hasExactSynonym "extraosseous Ewing's sarcoma"@en, "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor"@en, "extraskeletal Ewing sarcom"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4232"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extraosseous Ewing sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3369 . obo:DOID_4233 obo:IAO_0000115 "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4881"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018227"^^xsd:string, "NCI:C27370"^^xsd:string, "NCI:C3745"^^xsd:string, "SNOMEDCT_US_2021_03_01:12622007"^^xsd:string, "UMLS_CUI:C0206651"^^xsd:string, "UMLS_CUI:C1332198"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell sarcoma"@en, "Clear cell sarcoma of soft Parts"@en, "adult soft part clear cell sarcoma"@en, "malignant melanoma of soft tissues"@en, "melanoma, malignant, of soft parts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "malignant melanoma of soft parts"@en ; oboInOwl:id "DOID:4233"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_4235 obo:IAO_0000115 "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012509"^^xsd:string, "NCI:C27005"^^xsd:string, "SNOMEDCT_US_2021_03_01:9801004"^^xsd:string, "UMLS_CUI:C0205945"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4235"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_4236 obo:IAO_0000115 "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1971"^^xsd:string, "DOID:2610"^^xsd:string, "DOID:4234"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002296"^^xsd:string, "MESH:D018199"^^xsd:string, "MESH:D018200"^^xsd:string, "NCI:C34448"^^xsd:string, "NCI:C3730"^^xsd:string, "NCI:C8975"^^xsd:string, "SNOMEDCT_US_2021_03_01:112684005"^^xsd:string, "SNOMEDCT_US_2021_03_01:63264007"^^xsd:string, "SNOMEDCT_US_2021_03_01:84427001"^^xsd:string, "UMLS_CUI:C0007140"^^xsd:string, "UMLS_CUI:C0206627"^^xsd:string, "UMLS_CUI:C1334603"^^xsd:string ; oboInOwl:hasExactSynonym "MMMT"@en, "Mesodermal mixed tumor"@en, "malignant mixed Mullerian tumor"@en, "malignant mixed mesodermal (mullerian) tumor"@en, "mesodermal mixed tumor"@en, "mixed Mesodermal (mullerian) tumor"@en, "mullerian mixed tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4236"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_154 . obo:DOID_4238 oboInOwl:hasExactSynonym "malignant soft tissue tumor of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant soft tissue neoplasm of central nervous system"^^xsd:string ; owl:deprecated true . obo:DOID_4239 obo:IAO_0000115 "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5315"^^xsd:string, "DOID:5318"^^xsd:string ; oboInOwl:hasDbXref "GARD:5654"^^xsd:string, "MESH:D018234"^^xsd:string, "NCI:C3750"^^xsd:string, "NCI:C7943"^^xsd:string, "NCI:C8092"^^xsd:string, "OMIM:606243"^^xsd:string, "ORDO:163699"^^xsd:string, "SNOMEDCT_US_2021_03_01:88195001"^^xsd:string, "UMLS_CUI:C0206657"^^xsd:string, "UMLS_CUI:C0279544"^^xsd:string, "UMLS_CUI:C0279985"^^xsd:string ; oboInOwl:hasExactSynonym "Alveolar Soft Part sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alveolar soft part sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4043 . obo:DOID_424 obo:IAO_0000115 "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P28.0"^^xsd:string, "ICD9CM:770.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:42908004"^^xsd:string, "UMLS_CUI:C0270163"^^xsd:string ; oboInOwl:hasExactSynonym "primary atelectasis of newborn"@en, "primary atelectasis, in perinatal period"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:424"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary immaturity"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_4240 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant miscellaneous mesenchymal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4242 obo:IAO_0000115 "A kidney cancer that is located in the kidney's connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4525"^^xsd:string, "SNOMEDCT_US_2021_03_01:254918001"^^xsd:string, "UMLS_CUI:C0346251"^^xsd:string ; oboInOwl:hasExactSynonym "renal sarcoma"@en, "sarcoma of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4242"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263 . obo:DOID_4245 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete extraskeletal cartilaginous and osseous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4246 oboInOwl:hasExactSynonym "malignant soft tissue tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4246"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant mediastinal mesenchymal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4247 oboInOwl:hasDbXref "MESH:D023903"^^xsd:string, "UMLS_CUI:C0948480"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4247"^^xsd:string ; a owl:Class ; rdfs:label "coronary restenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4248 . obo:DOID_4248 oboInOwl:hasDbXref "MESH:D023921"^^xsd:string, "NCI:C80427"^^xsd:string, "SNOMEDCT_US_2021_03_01:233970002"^^xsd:string, "UMLS_CUI:C0242231"^^xsd:string ; oboInOwl:hasExactSynonym "Coronary artery stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4248"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "coronary stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_4249 obo:IAO_0000115 "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:7690"^^xsd:string, "ICD10CM:A81.82"^^xsd:string, "ICD9CM:046.71"^^xsd:string, "MESH:D016098"^^xsd:string, "NCI:C84727"^^xsd:string, "OMIM:137440"^^xsd:string, "SNOMEDCT_US_2021_03_01:67155006"^^xsd:string, "UMLS_CUI:C0017495"^^xsd:string ; oboInOwl:hasExactSynonym "Gerstmann-Straussler-Scheinker disease"@en, "PRION DEMENTIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4249"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gerstmann-Straussler-Scheinker syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_425 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:425"^^xsd:string ; a owl:Class ; rdfs:label "obsolete certain conditions originating in the perinatal period"^^xsd:string ; owl:deprecated true . obo:DOID_4250 oboInOwl:hasDbXref "ICD10CM:H11.82"^^xsd:string, "ICD9CM:372.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:408663001"^^xsd:string, "UMLS_CUI:C0878693"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4250"^^xsd:string ; a owl:Class ; rdfs:label "conjunctivochalasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_4251 obo:IAO_0000115 "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H11.9"^^xsd:string, "ICD9CM:372.9"^^xsd:string, "MESH:D003229"^^xsd:string, "NCI:C27605"^^xsd:string, "SNOMEDCT_US_2021_03_01:194583004"^^xsd:string, "UMLS_CUI:C0009759"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4251"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] ) ] . obo:DOID_4252 obo:IAO_0000115 "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5774"^^xsd:string, "MESH:D038261"^^xsd:string, "NCI:C84545"^^xsd:string, "OMIM:203450"^^xsd:string, "SNOMEDCT_US_2021_03_01:81854007"^^xsd:string, "UMLS_CUI:C0270726"^^xsd:string ; oboInOwl:hasExactSynonym "Alexander's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4252"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alexander disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:D038261"^^xsd:string . obo:DOID_4253 obo:IAO_0000115 "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex."^^xsd:string ; oboInOwl:hasDbXref "GARD:9474"^^xsd:string, "MESH:D008557"^^xsd:string, "NCI:C84887"^^xsd:string, "OMIM:155950"^^xsd:string, "SNOMEDCT_US_2021_03_01:240173003"^^xsd:string, "UMLS_CUI:C0025239"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "melorheostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] ; skos:exactMatch "MESH:D008557"^^xsd:string . obo:DOID_4254 obo:IAO_0000115 "A bone remodeling disease that results_in abnormal elevated bone density or mass."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.2"^^xsd:string, "MESH:D010026"^^xsd:string, "NCI:C41236"^^xsd:string, "SNOMEDCT_US_2021_03_01:49347007"^^xsd:string, "UMLS_CUI:C0029464"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4254"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_4256 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rheumatism"^^xsd:string ; owl:deprecated true . obo:DOID_4257 obo:IAO_0000115 "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability."^^xsd:string ; oboInOwl:hasDbXref "GARD:1051"^^xsd:string, "ICD10CM:M89.8"^^xsd:string, "MESH:D006958"^^xsd:string, "NCI:C84645"^^xsd:string, "OMIM:114000"^^xsd:string, "SNOMEDCT_US_2021_03_01:24752008"^^xsd:string, "UMLS_CUI:C0020497"^^xsd:string ; oboInOwl:hasExactSynonym "cortical congenital hyperostosis"@en, "infantile cortical hyperostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4257"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Caffey disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3342, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000654 ] . obo:DOID_4258 obo:IAO_0000115 "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:D010855"^^xsd:string, "NCI:C85010"^^xsd:string, "OMIM:261800"^^xsd:string, "SNOMEDCT_US_2021_03_01:156908005"^^xsd:string, "UMLS_CUI:C0031900"^^xsd:string ; oboInOwl:hasExactSynonym "Piere-Robin syndrome"@en, "Pierre Robin Malformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Weissenbacher-Zweymuller syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_4260 oboInOwl:hasDbXref "MESH:D020235"^^xsd:string, "SNOMEDCT_US_2021_03_01:30767006"^^xsd:string, "UMLS_CUI:C1510417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4260"^^xsd:string ; a owl:Class ; rdfs:label "gait apraxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060135 ; skos:exactMatch "MESH:D020235"^^xsd:string . obo:DOID_4263 oboInOwl:hasExactSynonym "Drug-induced akathisia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug-induced akathisia"^^xsd:string ; owl:deprecated true . obo:DOID_4265 obo:IAO_0000115 "A leiomyoma that is located_in the blood vessels."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018229"^^xsd:string, "NCI:C3747"^^xsd:string, "SNOMEDCT_US_2021_03_01:86959002"^^xsd:string, "UMLS_CUI:C0206653"^^xsd:string ; oboInOwl:hasExactSynonym "Angiomyoma"@en, "vascular leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4265"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] ; skos:exactMatch "MESH:D018229"^^xsd:string . obo:DOID_4266 oboInOwl:hasDbXref "NCI:C5355"^^xsd:string, "UMLS_CUI:C1334267"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4266"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intravascular angioleiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4265 . obo:DOID_4267 obo:IAO_0000115 "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000405"^^xsd:string, "SNOMEDCT_US_2021_03_01:53333005"^^xsd:string, "UMLS_CUI:C0001889"^^xsd:string ; oboInOwl:hasExactSynonym "Coma vigilans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4267"^^xsd:string ; a owl:Class ; rdfs:label "akinetic mutism"^^xsd:string ; rdfs:subClassOf obo:DOID_936 ; skos:exactMatch "MESH:D000405"^^xsd:string . obo:DOID_4270 obo:IAO_0000115 "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016890"^^xsd:string, "SNOMEDCT_US_2021_03_01:12825006"^^xsd:string, "UMLS_CUI:C0085412"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Encephalitozoon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4270"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "encephalitozoonosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4271, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_27973 obo:NCBITaxon_58839 obo:NCBITaxon_6035 ) ] ] . obo:DOID_4271 obo:IAO_0000115 "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members."^^xsd:string ; oboInOwl:hasDbXref "GARD:3655"^^xsd:string, "ICD10CM:B60.8"^^xsd:string, "MESH:D016881"^^xsd:string, "NCI:C84891"^^xsd:string, "SNOMEDCT_US_2021_03_01:61842000"^^xsd:string, "UMLS_CUI:C0085407"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Microspora"@en, "Infection by Microsporea"@en, "Infection by Microsporida"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microsporidiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6029 ] . obo:DOID_4273 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4273"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bovine hemorrhagic syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_4274 obo:IAO_0000115 "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pestivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4277 obo:IAO_0000115 "A basal cell carcinoma that is located_in the penis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39961"^^xsd:string, "UMLS_CUI:C1518949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of the penis"@en ; oboInOwl:id "DOID:4277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513, obo:DOID_3449, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] . obo:DOID_4278 oboInOwl:hasDbXref "NCI:C6386"^^xsd:string, "UMLS_CUI:C1335934"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma of scrotum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of the scrotum"@en ; oboInOwl:id "DOID:4278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotum basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513, obo:DOID_3445, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] . obo:DOID_4279 obo:IAO_0000115 "A variant of basal cell carcinoma characterized by follicular differentiation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604451"^^xsd:string ; oboInOwl:hasExactSynonym "skin infundibulocystic basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4279"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "infundibulocystic basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4280 obo:IAO_0000115 "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4296"^^xsd:string ; oboInOwl:hasDbXref "NCI:C62282"^^xsd:string, "SNOMEDCT_US_2021_03_01:716274007"^^xsd:string, "UMLS_CUI:C1304300"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma, nodular"@en, "Circumscribed solid basal cell carcinoma"@en, "skin nodulo-ulcerative basal cell carcinoma"@en, "skin solid (nodular) Basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4281 obo:IAO_0000115 "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma."^^xsd:string ; oboInOwl:hasExactSynonym "Basosquamous carcinoma of skin"@en, "skin Metatypical carcinoma"@en, "skin metatypical basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4281"^^xsd:string ; a owl:Class ; rdfs:label "metatypical basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4282 obo:IAO_0000115 "A basal cell carcinoma characterized by brown or black pigmentation."^^xsd:string ; oboInOwl:hasExactSynonym "skin pigmented basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4282"^^xsd:string ; a owl:Class ; rdfs:label "pigmented basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4283 obo:IAO_0000115 "A basal cell carcinoma that is located_in the anal margin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C44.510"^^xsd:string, "NCI:C7473"^^xsd:string, "UMLS_CUI:C1332269"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma of Perianal skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of anal margin"@en ; oboInOwl:id "DOID:4283"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal margin basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4284 obo:IAO_0000115 "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7472"^^xsd:string, "SNOMEDCT_US_2021_03_01:255084004"^^xsd:string, "UMLS_CUI:C0349534"^^xsd:string ; oboInOwl:hasExactSynonym "Perianal skin carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of anal margin"@en ; oboInOwl:id "DOID:4284"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal margin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4159, obo:DOID_4908, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012336 ] . obo:DOID_4285 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4285"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complications of pregnancy, childbirth and the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_4286 oboInOwl:hasExactSynonym "skin basosebaceous basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4286"^^xsd:string ; a owl:Class ; rdfs:label "sebaceous basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513, obo:DOID_4840, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001821 ] . obo:DOID_4287 oboInOwl:hasDbXref "NCI:C6082"^^xsd:string, "UMLS_CUI:C1333491"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma of the External ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of external ear"@en ; oboInOwl:id "DOID:4287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external ear basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513, obo:DOID_4288, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] . obo:DOID_4288 obo:IAO_0000115 "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6081"^^xsd:string, "UMLS_CUI:C1333492"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the External ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of external ear"@en ; oboInOwl:id "DOID:4288"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external ear carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5665, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001691 ] . obo:DOID_4289 obo:IAO_0000115 "A basal cell carcinoma characterized by solid tumor nodules."^^xsd:string ; oboInOwl:hasExactSynonym "skin micronodular basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4289"^^xsd:string ; a owl:Class ; rdfs:label "micronodular basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_429 obo:IAO_0000115 "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006175"^^xsd:string, "NCI:C84743"^^xsd:string, "UMLS_CUI:C0018414"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:429"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gynatresia"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_4290 oboInOwl:hasDbXref "NCI:C7585"^^xsd:string, "SNOMEDCT_US_2021_03_01:402524007"^^xsd:string, "UMLS_CUI:C1304295"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma - adamantinoid"@en, "Melanotic adamantinoma of skin"@en, "skin adamantinoid basal cell epithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4290"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adamantinoid basal cell epithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4291 oboInOwl:hasDbXref "NCI:C4109"^^xsd:string, "SNOMEDCT_US_2021_03_01:254703005"^^xsd:string, "UMLS_CUI:C0346013"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroepithelioma of Pinkus"@en, "Fibroepithelioma of Pinkus type"@en, "Pinkus tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4291"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibroepithelial basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4292 oboInOwl:hasDbXref "NCI:C27182"^^xsd:string, "SNOMEDCT_US_2021_03_01:403913006"^^xsd:string, "UMLS_CUI:C0555191"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma, morphea"@en, "Cicatricial basal-cell carcinoma"@en, "Morphea-type (Sclerosing) Basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "morpheaform basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4293 oboInOwl:hasDbXref "NCI:C27536"^^xsd:string, "UMLS_CUI:C1516599"^^xsd:string ; oboInOwl:hasExactSynonym "skin clear cell basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4294 oboInOwl:hasExactSynonym "skin adenoid basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4294"^^xsd:string ; a owl:Class ; rdfs:label "adenoid basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001732 ] . obo:DOID_4295 oboInOwl:hasExactSynonym "follicular (pilar) basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4295"^^xsd:string ; a owl:Class ; rdfs:label "follicular basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4297 obo:IAO_0000115 "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q26.8"^^xsd:string, "MESH:D012587"^^xsd:string, "NCI:C85056"^^xsd:string, "OMIM:106700"^^xsd:string, "ORDO:185"^^xsd:string, "SNOMEDCT_US_2021_03_01:39905002"^^xsd:string, "UMLS_CUI:C0036400"^^xsd:string ; oboInOwl:hasExactSynonym "Halasz syndrome"^^xsd:string, "congenital venolobar syndrome"^^xsd:string, "hypogenetic lung syndrome"^^xsd:string, "mirror-image lung syndrome"^^xsd:string, "pulmonary venolobar syndrome"@en, "total anomalous pulmonary venous return"@en, "vena cava bronchovascular syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scimitar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_4298 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4298"^^xsd:string ; a owl:Class ; rdfs:label "obsolete respiratory system abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_4299 oboInOwl:hasExactSynonym "skin infiltrating basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4299"^^xsd:string ; a owl:Class ; rdfs:label "infiltrative basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4300 oboInOwl:hasDbXref "NCI:C4108"^^xsd:string, "SNOMEDCT_US_2021_03_01:61098004"^^xsd:string, "UMLS_CUI:C0334256"^^xsd:string ; oboInOwl:hasExactSynonym "Multifocal superficial basal cell carcinoma"@en, "Superficial multicentric basal-cell carcinoma"@en, "multicentric basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4300"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "superficial basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4301 obo:IAO_0000115 "A vulva carcinoma that has_material_basis in basal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6381"^^xsd:string, "SNOMEDCT_US_2021_03_01:717731002"^^xsd:string, "UMLS_CUI:C1336977"^^xsd:string ; oboInOwl:hasExactSynonym "Basal cell carcinoma of Vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of the vulva"@en ; oboInOwl:id "DOID:4301"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294, obo:DOID_2513, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] . obo:DOID_4302 oboInOwl:hasExactSynonym "skin cystic basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4302"^^xsd:string ; a owl:Class ; rdfs:label "cystic basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4303 oboInOwl:hasDbXref "NCI:C38111"^^xsd:string, "UMLS_CUI:C1519182"^^xsd:string ; oboInOwl:hasExactSynonym "skin sarcomatoid basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4303"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4304 oboInOwl:hasDbXref "NCI:C38110"^^xsd:string, "UMLS_CUI:C1519320"^^xsd:string ; oboInOwl:hasExactSynonym "skin signet ring cell basal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4304"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "signet ring basal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_4305 obo:IAO_0000115 "A benign giant cell tumor that results_in the presence of multinucleated giant cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018212"^^xsd:string, "NCI:C121932"^^xsd:string, "SNOMEDCT_US_2021_03_01:697970009"^^xsd:string, "UMLS_CUI:C0206638"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell neoplasm of bone"@en, "Giant cell tumor of bone"@en, "Giant cell tumour of bone"@en, "bone giant cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "giant cell myeloma"@en, "osteoclastoma"@en ; oboInOwl:id "DOID:4305"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone giant cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_200 . obo:DOID_4306 obo:IAO_0000115 "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M54.1"^^xsd:string, "MESH:D011843"^^xsd:string, "SNOMEDCT_US_2021_03_01:394640000"^^xsd:string, "UMLS_CUI:C0700594"^^xsd:string ; oboInOwl:hasExactSynonym "pinched nerve"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4306"^^xsd:string ; a owl:Class ; rdfs:label "radiculopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_574, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ] . obo:DOID_4307 obo:IAO_0000115 "A radiculopathy that is present in more than one nerve."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011128"^^xsd:string, "NCI:C34934"^^xsd:string, "SNOMEDCT_US_2021_03_01:75572007"^^xsd:string, "UMLS_CUI:C0032586"^^xsd:string ; oboInOwl:hasExactSynonym "Polyradiculopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyradiculopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_4306 . obo:DOID_4308 obo:IAO_0000115 "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves."^^xsd:string ; oboInOwl:hasDbXref "MESH:D011129"^^xsd:string, "SNOMEDCT_US_2021_03_01:128078004"^^xsd:string, "UMLS_CUI:C0032587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4308"^^xsd:string ; a owl:Class ; rdfs:label "polyradiculoneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_574 . obo:DOID_431 oboInOwl:hasDbXref "MESH:D009209"^^xsd:string, "UMLS_CUI:C0027073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:431"^^xsd:string ; a owl:Class ; rdfs:label "myofascial pain syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_423 . obo:DOID_4310 oboInOwl:hasDbXref "MESH:D018235"^^xsd:string, "NCI:C3751"^^xsd:string, "SNOMEDCT_US_2021_03_01:75109009"^^xsd:string, "UMLS_CUI:C0206658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "smooth muscle tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_461 . obo:DOID_4313 obo:IAO_0000115 "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L12.3"^^xsd:string, "MESH:D016107"^^xsd:string, "NCI:C84690"^^xsd:string, "SNOMEDCT_US_2021_03_01:2772003"^^xsd:string, "UMLS_CUI:C0079293"^^xsd:string ; oboInOwl:hasExactSynonym "acquired epidermolysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermolysis bullosa acquisita"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, obo:DOID_2730, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] ) ] . obo:DOID_4318 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia."^^xsd:string ; oboInOwl:hasExactSynonym "Ovine encephalomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4318"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visna"^^xsd:string ; owl:deprecated true . obo:DOID_4320 obo:IAO_0000115 "A choriocarcicoma that develops in the absence of a preceding gestational event."^^xsd:string ; oboInOwl:hasDbXref "MESH:D031954"^^xsd:string, "UMLS_CUI:C1135873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4320"^^xsd:string ; a owl:Class ; rdfs:label "non-gestational choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3594 . obo:DOID_4321 oboInOwl:hasDbXref "NCI:C27518"^^xsd:string, "SNOMEDCT_US_2021_03_01:733894009"^^xsd:string, "UMLS_CUI:C1334362"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4321"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large cell acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_174 . obo:DOID_4322 oboInOwl:hasDbXref "MESH:D049309"^^xsd:string, "NCI:C4468"^^xsd:string, "SNOMEDCT_US_2021_03_01:254693008"^^xsd:string, "UMLS_CUI:C0346005"^^xsd:string ; oboInOwl:hasExactSynonym "Pilar Sheath acanthoma"@en, "Pilar sheath acanthoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pilar sheath acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_174 . obo:DOID_4323 oboInOwl:hasDbXref "NCI:C27516"^^xsd:string, "SNOMEDCT_US_2021_03_01:733892008"^^xsd:string, "UMLS_CUI:C1333414"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4323"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermolytic acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_174 . obo:DOID_4324 oboInOwl:hasDbXref "NCI:C27517"^^xsd:string, "SNOMEDCT_US_2021_03_01:397188008"^^xsd:string, "UMLS_CUI:C1301270"^^xsd:string ; oboInOwl:hasExactSynonym "Acantholytic acanthoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acantholytic acanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_174 . obo:DOID_4325 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding."^^xsd:string ; oboInOwl:hasDbXref "GARD:2035"^^xsd:string, "ICD10CM:A98.4"^^xsd:string, "MESH:D019142"^^xsd:string, "NCI:C36171"^^xsd:string, "SNOMEDCT_US_2021_03_01:123323003"^^xsd:string, "UMLS_CUI:C0282687"^^xsd:string ; oboInOwl:hasExactSynonym "Ebola virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4325"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Ebola hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_186538 obo:NCBITaxon_186540 obo:NCBITaxon_565995 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4326 obo:IAO_0000115 "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4326"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Filoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4327 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding."^^xsd:string ; oboInOwl:hasDbXref "GARD:9444"^^xsd:string, "ICD10CM:A98.3"^^xsd:string, "MESH:D008379"^^xsd:string, "NCI:C84883"^^xsd:string, "SNOMEDCT_US_2021_03_01:123322008"^^xsd:string, "UMLS_CUI:C0024788"^^xsd:string ; oboInOwl:hasExactSynonym "Marburg disease"@en, "Marburg virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Marburg hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11269 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_4329 oboInOwl:hasDbXref "GARD:6369"^^xsd:string, "MESH:D031249"^^xsd:string, "NCI:C53972"^^xsd:string, "SNOMEDCT_US_2021_03_01:703711007"^^xsd:string, "UMLS_CUI:C0878675"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Erdheim-Chester disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4330 . obo:DOID_433 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:433"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Intraventricular hemorrhage from any perinatal cause"^^xsd:string ; owl:deprecated true . obo:DOID_4330 oboInOwl:hasDbXref "GARD:8231"^^xsd:string, "MESH:D015616"^^xsd:string, "SNOMEDCT_US_2021_03_01:127069007"^^xsd:string, "UMLS_CUI:C0019624"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4330"^^xsd:string ; a owl:Class ; rdfs:label "non-Langerhans-cell histiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3405 . obo:DOID_4331 obo:IAO_0000115 "A mouth disease that is characterized by long-lasting burning sensations of the mouth."^^xsd:string ; oboInOwl:hasDbXref "GARD:5974"^^xsd:string, "MESH:D002054"^^xsd:string, "NCI:C62545"^^xsd:string, "SNOMEDCT_US_2021_03_01:111349000"^^xsd:string, "UMLS_CUI:C0006430"^^xsd:string ; oboInOwl:hasExactSynonym "Orodynia"@en, "Stomatopyrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "burning mouth syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_4332 oboInOwl:hasExactSynonym "Hypophosphatemia, familial"@en, "familial hypophosphataemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4332"^^xsd:string ; a owl:Class ; rdfs:label "obsolete familial hypophosphatemia"^^xsd:string ; owl:deprecated true . obo:DOID_4333 obo:IAO_0000115 "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q50.5"^^xsd:string, "MESH:D010310"^^xsd:string, "SNOMEDCT_US_2021_03_01:204831002"^^xsd:string, "UMLS_CUI:C0030584"^^xsd:string ; oboInOwl:hasExactSynonym "Cyst, fimbrial"@en, "Embryonic fimbrial cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4333"^^xsd:string ; a owl:Class ; rdfs:label "parovarian cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_4334 oboInOwl:hasDbXref "NCI:C7297"^^xsd:string, "UMLS_CUI:C1336066"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4334"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "splenic manifestation of prolymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_710 . obo:DOID_4336 obo:IAO_0000115 "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050109"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B35"^^xsd:string, "MESH:D014007"^^xsd:string, "NCI:C35072"^^xsd:string, "SNOMEDCT_US_2021_03_01:85375000"^^xsd:string, "UMLS_CUI:C0040254"^^xsd:string ; oboInOwl:hasExactSynonym "favus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4336"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tinea favosa"^^xsd:string ; rdfs:subClassOf obo:DOID_4337, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100699 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0000403 obo:UBERON_0001037 obo:UBERON_0001705 ) ] ] . obo:DOID_4337 obo:IAO_0000115 "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050114"^^xsd:string, "DOID:12319"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:110.0"^^xsd:string, "NCI:C34536"^^xsd:string, "SNOMEDCT_US_2021_03_01:186985002"^^xsd:string, "UMLS_CUI:C0011640"^^xsd:string ; oboInOwl:hasExactSynonym "Scalp ringworm"@en, "Trichophyton rubrum tinea capitis"@en, "dermatophytosis of scalp or beard"@en, "tinea capitis due to Trichophyton rubrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Dermatophytosis of scalp"@en ; oboInOwl:id "DOID:4337"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tinea capitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000403 obo:UBERON_0001702 obo:UBERON_0010163 obo:UBERON_0016446 ) ] ] . obo:DOID_434 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:434"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anterior mediastinum cancer"^^xsd:string ; owl:deprecated true . obo:DOID_4346 oboInOwl:hasDbXref "GARD:7848"^^xsd:string, "MESH:D046350"^^xsd:string, "NCI:C85219"^^xsd:string, "OMIM:176200"^^xsd:string, "SNOMEDCT_US_2021_03_01:58275005"^^xsd:string, "UMLS_CUI:C0162532"^^xsd:string ; oboInOwl:hasExactSynonym "Protocoproporphyria"@en, "Protoporphyrinogen oxidase deficiency"@en, "Variegate porphyria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4346"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "variegate porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_4347 oboInOwl:hasDbXref "MESH:D008210"^^xsd:string, "NCI:C78442"^^xsd:string, "SNOMEDCT_US_2021_03_01:234109007"^^xsd:string, "UMLS_CUI:C0024248"^^xsd:string ; oboInOwl:hasExactSynonym "Lymph cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4347"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphocele"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_4349 oboInOwl:hasAlternativeId "DOID:11084"^^xsd:string, "DOID:11085"^^xsd:string ; oboInOwl:hasExactSynonym "Rupture of uterus before onset of labor, antepartum"@en, "Rupture of uterus before onset of labor, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4349"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complications occurring mainly in the course of labor and delivery"^^xsd:string ; owl:deprecated true . obo:DOID_435 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:435"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of thymus, heart and mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_4350 oboInOwl:hasExactSynonym "Anaplasmosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4350"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete bovine anaplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_4351 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4351"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Anaplasmataceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4352 oboInOwl:hasAlternativeId "DOID:6352"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.4"^^xsd:string, "NCI:C4364"^^xsd:string, "NCI:C4766"^^xsd:string, "SNOMEDCT_US_2021_03_01:126998003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93756008"^^xsd:string, "UMLS_CUI:C0339349"^^xsd:string, "UMLS_CUI:C0496833"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of ciliary body"@en, "malignant tumor of ciliary body"@en, "malignant tumor of the Ciliary body"@en, "neoplasm of ciliary body"@en, "tumor of the Ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4352"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ciliary body cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3478, obo:DOID_4353 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001775 ] ) ] . obo:DOID_4353 oboInOwl:hasDbXref "NCI:C35775"^^xsd:string, "SNOMEDCT_US_2021_03_01:68575007"^^xsd:string, "UMLS_CUI:C0271100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4353"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ciliary body disease"^^xsd:string ; rdfs:subClassOf obo:DOID_240 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001775 ] ) ] . obo:DOID_4356 oboInOwl:hasExactSynonym "malignant melanoma, regressing (morphologic abnormality)"@en, "regressing malignant melanoma"@en, "regressing melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4356"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regressing malignant melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_4357 oboInOwl:hasExactSynonym "Experimental malignant melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4357"^^xsd:string ; a owl:Class ; rdfs:label "obsolete experimental melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_4358 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4358"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_4359 oboInOwl:hasDbXref "MESH:D018328"^^xsd:string, "NCI:C3802"^^xsd:string, "SNOMEDCT_US_2021_03_01:70594002"^^xsd:string, "UMLS_CUI:C0206735"^^xsd:string ; oboInOwl:hasExactSynonym "Amelanotic melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4359"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amelanotic melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909 . obo:DOID_436 oboInOwl:hasDbXref "ICD10CM:C38.2"^^xsd:string, "ICD9CM:164.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:448670003"^^xsd:string, "UMLS_CUI:C0153502"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:436"^^xsd:string ; a owl:Class ; rdfs:label "posterior mediastinum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5559 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008822 ] ) ] . obo:DOID_4360 oboInOwl:hasDbXref "NCI:C4236"^^xsd:string, "SNOMEDCT_US_2021_03_01:37138001"^^xsd:string, "UMLS_CUI:C0334443"^^xsd:string ; oboInOwl:hasExactSynonym "epithelioid melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4360"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1909 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ] ) ] . obo:DOID_4362 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the cervix."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4361"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C53"^^xsd:string, "ICD9CM:180"^^xsd:string, "MESH:D002583"^^xsd:string, "NCI:C2940"^^xsd:string, "NCI:C9311"^^xsd:string, "OMIM:603956"^^xsd:string, "SNOMEDCT_US_2021_03_01:123841004"^^xsd:string, "SNOMEDCT_US_2021_03_01:254885005"^^xsd:string, "UMLS_CUI:C0007847"^^xsd:string, "UMLS_CUI:C0007873"^^xsd:string ; oboInOwl:hasExactSynonym "cervical neoplasm"@en, "cervix cancer"@en, "cervix uteri cancer"@en, "neoplasm of uterine cervix"@en, "tumor of the Cervix Uteri"@en, "uterine cervical neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4362"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "cervical cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2253, obo:DOID_363 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] ) ] . obo:DOID_4364 obo:IAO_0000115 "A breast cancer that arises_from melanocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8410"^^xsd:string, "SNOMEDCT_US_2021_03_01:188050009"^^xsd:string, "UMLS_CUI:C0346787"^^xsd:string ; oboInOwl:hasExactSynonym "breast melanoma"@en, "malignant melanoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4364"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant breast melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_4367 obo:IAO_0000115 "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0090121"^^xsd:string ; oboInOwl:hasDbXref "GARD:433"^^xsd:string, "MESH:D043204"^^xsd:string, "NCI:C123231"^^xsd:string, "OMIM:218030"^^xsd:string, "ORDO:320"^^xsd:string, "SNOMEDCT_US_2021_03_01:237770005"^^xsd:string, "UMLS_CUI:C0342488"^^xsd:string ; oboInOwl:hasExactSynonym "11-beta-hydroxysteroid dehydrogenase deficiency type 2"@en, "Ulick syndrome"@en, "cortisol 11-beta-ketoreductase deficiency"@en, "syndrome of apparent mineralocorticoid excess"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4367"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apparent mineralocorticoid excess syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_4369 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4369"^^xsd:string ; a owl:Class ; rdfs:label "obsolete brain hypoxia-Ischemia"^^xsd:string ; owl:deprecated true . obo:DOID_437 obo:IAO_0000115 "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:443"^^xsd:string, "DOID:444"^^xsd:string ; oboInOwl:hasDbXref "GARD:7122"^^xsd:string, "ICD10CM:G70.0"^^xsd:string, "ICD10CM:G70.00"^^xsd:string, "ICD9CM:358.0"^^xsd:string, "ICD9CM:358.00"^^xsd:string, "MESH:D009157"^^xsd:string, "NCI:C60989"^^xsd:string, "OMIM:254200"^^xsd:string, "SNOMEDCT_US_2021_03_01:155092009"^^xsd:string, "UMLS_CUI:C0026896"^^xsd:string, "UMLS_CUI:C1260409"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myasthenia gravis"^^xsd:string ; rdfs:subClassOf obo:DOID_438, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_4370 oboInOwl:hasDbXref "MESH:D045724"^^xsd:string, "UMLS_CUI:C1148546"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4370"^^xsd:string ; a owl:Class ; rdfs:label "stomach diverticulosis"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_4371 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "GARD:12390"^^xsd:string, "MESH:D019873"^^xsd:string, "SNOMEDCT_US_2021_03_01:402415001"^^xsd:string, "UMLS_CUI:C0524988"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4371"^^xsd:string ; a owl:Class ; rdfs:label "Schnitzler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 . obo:DOID_4372 oboInOwl:hasAlternativeId "DOID:1957"^^xsd:string, "DOID:1958"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I66"^^xsd:string, "ICD9CM:434.1"^^xsd:string, "MESH:D020766"^^xsd:string, "SNOMEDCT_US_2021_03_01:75543006"^^xsd:string, "UMLS_CUI:C0007780"^^xsd:string, "UMLS_CUI:C0752140"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral embolism with cerebral infarction"@en, "cerebral embolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4372"^^xsd:string ; a owl:Class ; rdfs:label "intracranial embolism"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 . obo:DOID_4374 obo:IAO_0000115 "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012832"^^xsd:string, "SNOMEDCT_US_2021_03_01:61233003"^^xsd:string, "UMLS_CUI:C0037120"^^xsd:string ; oboInOwl:hasExactSynonym "Silo-fillers' disease"@en, "silo filler disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4374"^^xsd:string ; a owl:Class ; rdfs:label "Silo filler's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_4375 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4375"^^xsd:string ; a owl:Class ; rdfs:label "obsolete agricultural workers' disease"^^xsd:string ; owl:deprecated true . obo:DOID_4376 obo:IAO_0000115 "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016269"^^xsd:string, "UMLS_CUI:C0079840"^^xsd:string ; oboInOwl:hasExactSynonym "milk allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4376"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "milk allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001257 ] . obo:DOID_4377 obo:IAO_0000115 "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms."^^xsd:string ; oboInOwl:hasDbXref "MESH:D021181"^^xsd:string, "NCI:C172313"^^xsd:string, "SNOMEDCT_US_2021_03_01:91930004"^^xsd:string, "UMLS_CUI:C0559469"^^xsd:string ; oboInOwl:hasExactSynonym "Allergy to eggs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4377"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "egg allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001274 ] . obo:DOID_4378 obo:IAO_0000115 "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms."^^xsd:string ; oboInOwl:hasDbXref "MESH:D021183"^^xsd:string, "SNOMEDCT_US_2021_03_01:91935009"^^xsd:string, "UMLS_CUI:C0559470"^^xsd:string ; oboInOwl:hasExactSynonym "allergy to peanuts"@en, "peanut allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4378"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "peanut allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060904 . obo:DOID_4379 obo:IAO_0000115 "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D021184"^^xsd:string, "SNOMEDCT_US_2021_03_01:395654004"^^xsd:string, "UMLS_CUI:C0577620"^^xsd:string ; oboInOwl:hasExactSynonym "allergy to nuts"@en, "nut allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4379"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "nut allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044 . obo:DOID_438 obo:IAO_0000115 "An autoimmune disease affecting the nervous system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020274"^^xsd:string, "NCI:C99383"^^xsd:string, "UMLS_CUI:C0751871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "autoimmune nervous system disorder"@en ; oboInOwl:id "DOID:438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autoimmune disease of the nervous system"^^xsd:string ; rdfs:subClassOf obo:DOID_417, obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ) ] . obo:DOID_4381 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4381"^^xsd:string ; a owl:Class ; rdfs:label "obsolete conventional alveolar rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4383 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4383"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete solid alveolar rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4384 obo:IAO_0000115 "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6247"^^xsd:string, "UMLS_CUI:C1335126"^^xsd:string ; oboInOwl:hasExactSynonym "Alveolar Rhabdomyosarcoma of the orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4384"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbit alveolar rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3259 . obo:DOID_4385 obo:IAO_0000115 "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4102"^^xsd:string, "SNOMEDCT_US_2021_03_01:39056008"^^xsd:string, "UMLS_CUI:C0334244"^^xsd:string ; oboInOwl:hasExactSynonym "papillary epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4385"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary squamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749 . obo:DOID_4386 oboInOwl:hasDbXref "MESH:D047708"^^xsd:string, "SNOMEDCT_US_2021_03_01:128917003"^^xsd:string, "UMLS_CUI:C1266121"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoleiomyoma"@en, "Myofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4386"^^xsd:string ; a owl:Class ; rdfs:label "myofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_4387 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4387"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent peripheral primitive neuroectodermal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4388 oboInOwl:hasDbXref "NCI:C8776"^^xsd:string, "UMLS_CUI:C0855009"^^xsd:string ; oboInOwl:hasExactSynonym "osseous peripheral Neuroepithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone peripheral neuroepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3368 . obo:DOID_4389 oboInOwl:hasDbXref "NCI:C27471"^^xsd:string, "UMLS_CUI:C1112437"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral Neuroectodermal tumor of soft tissues"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "soft tissue peripheral neuroepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4232 . obo:DOID_439 obo:IAO_0000115 "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020511"^^xsd:string, "SNOMEDCT_US_2021_03_01:128213006"^^xsd:string, "UMLS_CUI:C0751950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:439"^^xsd:string ; a owl:Class ; rdfs:label "neuromuscular junction disease"^^xsd:string ; rdfs:subClassOf obo:DOID_440 . obo:DOID_4393 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4393"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Henipavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4394 oboInOwl:hasDbXref "GARD:12967"^^xsd:string, "MESH:D015616"^^xsd:string, "NCI:C3356"^^xsd:string, "SNOMEDCT_US_2021_03_01:15960008"^^xsd:string, "UMLS_CUI:C0035290"^^xsd:string ; oboInOwl:hasExactSynonym "Reticulohistiocytic granuloma"@en, "Reticulohistiocytoma"@en, "Solitary Reticulohistiocytoma"@en, "Solitary reticulohistiocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reticulohistiocytic granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_3405 . obo:DOID_4397 oboInOwl:hasDbXref "NCI:C3505"^^xsd:string, "UMLS_CUI:C0743086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4397"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_4398 oboInOwl:hasDbXref "ICD10CM:L40.3"^^xsd:string, "MESH:D011565"^^xsd:string, "NCI:C34888"^^xsd:string, "SNOMEDCT_US_2021_03_01:238610005"^^xsd:string, "UMLS_CUI:C0030246"^^xsd:string ; oboInOwl:hasExactSynonym "Acropustulosis"@en, "Palmoplantar Pustulosis"@en, "Pustular psoriasis of the palms and/or soles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4398"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pustulosis of palm and sole"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_4399 oboInOwl:hasDbXref "NCI:C35277"^^xsd:string, "UMLS_CUI:C0234894"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4399"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acneiform dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_440 obo:IAO_0000115 "A neuropathy that affect the nerves that control the voluntary muscles."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G70.9"^^xsd:string, "ICD9CM:358"^^xsd:string, "MESH:D009468"^^xsd:string, "SNOMEDCT_US_2021_03_01:1664005"^^xsd:string, "UMLS_CUI:C0027868"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:440"^^xsd:string ; a owl:Class ; rdfs:label "neuromuscular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_17, obo:DOID_870 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_870 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_4400 oboInOwl:hasDbXref "ICD10CM:L82"^^xsd:string, "MESH:C562379"^^xsd:string, "NCI:C2984"^^xsd:string, "OMIM:125600"^^xsd:string, "SNOMEDCT_US_2021_03_01:254669003"^^xsd:string, "UMLS_CUI:C0011645"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatosis papulosa nigra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "dermatosis papulosa nigra"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_4403 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4403"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical glandular tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4404 oboInOwl:hasDbXref "MESH:D009783"^^xsd:string, "NCI:C34859"^^xsd:string, "SNOMEDCT_US_2021_03_01:200780008"^^xsd:string, "UMLS_CUI:C0028796"^^xsd:string ; oboInOwl:hasExactSynonym "Occupational Dermatitis"@en, "Occupational allergic contact dermatitis"@en, "Occupational dermatitis"@en, "Occupational eczema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4404"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "occupational dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2773 . obo:DOID_4406 oboInOwl:hasDbXref "NCI:C27037"^^xsd:string, "SNOMEDCT_US_2021_03_01:23615008"^^xsd:string, "UMLS_CUI:C0262984"^^xsd:string ; oboInOwl:hasExactSynonym "Spongiotic dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spongiotic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_4407 oboInOwl:hasDbXref "MESH:D017484"^^xsd:string, "NCI:C4816"^^xsd:string, "SNOMEDCT_US_2021_03_01:53597009"^^xsd:string, "UMLS_CUI:C0162830"^^xsd:string ; oboInOwl:hasExactSynonym "Photosensitisation reaction"@en, "Photosensitive Dermatitis"@en, "Photosensitiveness"@en, "Phototoxic dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4407"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "phototoxic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2772, obo:DOID_3159 . obo:DOID_4409 oboInOwl:hasDbXref "MESH:D005499"^^xsd:string, "NCI:C94408"^^xsd:string, "SNOMEDCT_US_2021_03_01:156411003"^^xsd:string, "UMLS_CUI:C0016436"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4409"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "folliculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723, obo:DOID_421, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ] . obo:DOID_4410 oboInOwl:hasExactSynonym "Allergic Dermatitis due to Arnica"@en, "Contact dermatitis due to arnica (disorder)"@en, "Dermatitis due to arnica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4410"^^xsd:string ; a owl:Class ; rdfs:label "obsolete contact dermatitis due to arnica"^^xsd:string ; owl:deprecated true . obo:DOID_4411 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12431"^^xsd:string ; oboInOwl:hasDbXref "GARD:9541"^^xsd:string, "MESH:D016751"^^xsd:string, "SNOMEDCT_US_2021_03_01:7111000119109"^^xsd:string, "UMLS_CUI:C0085293"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4411"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "hepatitis E"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_12461 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4412 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4412"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Astroviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4413 obo:IAO_0000115 "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40239"^^xsd:string, "UMLS_CUI:C0877611"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4413"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4362 . obo:DOID_4415 oboInOwl:hasDbXref "MESH:D018219"^^xsd:string, "NCI:C3739"^^xsd:string, "SNOMEDCT_US_2021_03_01:25889007"^^xsd:string, "UMLS_CUI:C0206644"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroxanthoma"@en, "benign fibrous histiocytoma"@en, "fibrous Histiocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4415"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4231 . obo:DOID_4418 oboInOwl:hasAlternativeId "DOID:4417"^^xsd:string ; oboInOwl:hasDbXref "GARD:9807"^^xsd:string, "MESH:D018219"^^xsd:string, "NCI:C6801"^^xsd:string, "NCI:C7749"^^xsd:string, "SNOMEDCT_US_2021_03_01:254749001"^^xsd:string, "SNOMEDCT_US_2021_03_01:403999006"^^xsd:string, "UMLS_CUI:C0002991"^^xsd:string, "UMLS_CUI:C0346049"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatofibroma"@en, "Fibrohistiocytic tumor"@en, "Pleomorphic fibroma"@en, "Sclerosing angioma"@en, "Sclerosing angioma of skin"@en, "benign Cutaneous fibrous Histiocytoma"@en, "dermatofibroma"@en, "fibrohistiocytic tumor"@en, "fibrous histiocytoma of skin"@en, "fibrous xanthoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4418"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165, obo:DOID_4415, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_4419 oboInOwl:hasDbXref "NCI:C6492"^^xsd:string, "SNOMEDCT_US_2021_03_01:128741006"^^xsd:string, "UMLS_CUI:C1266125"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4419"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign deep fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060092 . obo:DOID_4422 oboInOwl:hasDbXref "NCI:C40035"^^xsd:string, "UMLS_CUI:C1510778"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4422"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4236 . obo:DOID_4423 obo:IAO_0000115 "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012618"^^xsd:string, "NCI:C85062"^^xsd:string, "OMIM:269600"^^xsd:string, "SNOMEDCT_US_2021_03_01:37821003"^^xsd:string, "UMLS_CUI:C0036489"^^xsd:string ; oboInOwl:hasExactSynonym "Sea-blue histiocyte syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4423"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "sea-blue histiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_4424 oboInOwl:hasDbXref "MESH:D014972"^^xsd:string, "NCI:C3451"^^xsd:string, "SNOMEDCT_US_2021_03_01:71709009"^^xsd:string, "UMLS_CUI:C0043324"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple eruptive juvenile xanthogranuloma"@en, "Naevoxanthoendothelioma"@en, "Xanthoma neviforme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4424"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "juvenile xanthogranuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_4330, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_4425 oboInOwl:hasExactSynonym "Lipogranuloma (disorder)"@en, "Lipogranuloma (morphologic abnormality)"@en, "Oil granuloma (disorder)"@en, "Xanthogranuloma"@en, "Xanthogranuloma (disorder)"@en, "lipogranulomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4425"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipogranuloma"^^xsd:string ; owl:deprecated true . obo:DOID_4428 obo:IAO_0000115 "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F81.0"^^xsd:string, "MESH:D004410"^^xsd:string, "NCI:C96410"^^xsd:string, "OMIM:300509"^^xsd:string, "OMIM:600202"^^xsd:string, "OMIM:604254"^^xsd:string, "OMIM:606616"^^xsd:string, "OMIM:606896"^^xsd:string, "OMIM:608995"^^xsd:string, "SNOMEDCT_US_2021_03_01:154954003"^^xsd:string, "UMLS_CUI:C0476254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "dyslexia"^^xsd:string ; rdfs:subClassOf obo:DOID_13365 . obo:DOID_4430 oboInOwl:hasDbXref "GARD:4900"^^xsd:string, "MESH:D013005"^^xsd:string, "NCI:C3379"^^xsd:string, "SNOMEDCT_US_2021_03_01:128642005"^^xsd:string, "UMLS_CUI:C0037661"^^xsd:string ; oboInOwl:hasExactSynonym "Somatostatin cell neoplasm"@en, "Somatostatin cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4430"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "somatostatinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_169 . obo:DOID_4432 oboInOwl:hasDbXref "NCI:C95595"^^xsd:string, "UMLS_CUI:C1368041"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic Somatostatin cell tumor"@en, "pancreatic delta cell somatostatin producing neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic somatostatinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_4433 oboInOwl:hasDbXref "NCI:C28396"^^xsd:string, "UMLS_CUI:C1335301"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic Delta cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic delta cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_4434 oboInOwl:hasDbXref "NCI:C5803"^^xsd:string, "UMLS_CUI:C1336005"^^xsd:string ; oboInOwl:hasExactSynonym "small Intestine neuroendocrine tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4434"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_7505 . obo:DOID_4435 oboInOwl:hasDbXref "NCI:C5268"^^xsd:string, "UMLS_CUI:C1332865"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Cavernous sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4435"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cavernous sinus meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_3842 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003712 ] ) ] . obo:DOID_4436 oboInOwl:hasDbXref "NCI:C5286"^^xsd:string, "UMLS_CUI:C1332301"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Anterior Fossa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anterior cranial fossa meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003720 ] ) ] . obo:DOID_4437 oboInOwl:hasDbXref "NCI:C5272"^^xsd:string, "UMLS_CUI:C1335976"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Skull Base"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skull base meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3842 . obo:DOID_4438 oboInOwl:hasDbXref "GARD:2005"^^xsd:string, "NCI:C7009"^^xsd:string, "UMLS_CUI:C1333813"^^xsd:string ; oboInOwl:hasExactSynonym "germinoma of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_4439 obo:IAO_0000115 "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5461"^^xsd:string, "UMLS_CUI:C1332880"^^xsd:string ; oboInOwl:hasExactSynonym "central nervous system germ cell tumour"@en, "germ cell tumor of the CNS"@en, "germ cell tumour of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4439"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, obo:DOID_3620, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_4440 obo:IAO_0000115 "A germinoma that has_material_basis_in cells that make sperm and eggs."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018239"^^xsd:string, "NCI:C9309"^^xsd:string, "SNOMEDCT_US_2021_03_01:443675005"^^xsd:string, "UMLS_CUI:C0036631"^^xsd:string ; oboInOwl:hasExactSynonym "Seminoma, Pure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4440"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000019 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000025 ] ) ] . obo:DOID_4441 obo:IAO_0000115 "A germ cell cancer that derives_from cells that give rise to egg cells."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9060/3"^^xsd:string, "MESH:D004407"^^xsd:string, "NCI:C2996"^^xsd:string, "SNOMEDCT_US_2021_03_01:60718004"^^xsd:string, "UMLS_CUI:C0013377"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4441"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysgerminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394, obo:DOID_2994, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_4442 obo:IAO_0000115 "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40225"^^xsd:string, "UMLS_CUI:C1516408"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4442"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical alveolar soft part sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4362 . obo:DOID_4443 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4443"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical soft tissue tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4445 oboInOwl:hasExactSynonym "Arachnoid cyst"@en, "Arachnoid cyst (disorder)"@en, "Leptomeningeal Cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4445"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arachnoid cyst"^^xsd:string ; owl:deprecated true . obo:DOID_4446 oboInOwl:hasExactSynonym "Cyst of central nervous system (disorder)"@en, "Cyst of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4446"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system cyst"^^xsd:string ; owl:deprecated true . obo:DOID_4447 oboInOwl:hasDbXref "MESH:D008269"^^xsd:string, "NCI:C34794"^^xsd:string, "OMIM:153880"^^xsd:string, "SNOMEDCT_US_2021_03_01:193387007"^^xsd:string, "UMLS_CUI:C0024440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4447"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cystoid macular edema"^^xsd:string ; rdfs:subClassOf obo:DOID_4449 . obo:DOID_4448 obo:IAO_0000115 "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008268"^^xsd:string, "NCI:C123330"^^xsd:string, "ORDO:279"^^xsd:string, "SNOMEDCT_US_2021_03_01:302891003"^^xsd:string, "UMLS_CUI:C0024437"^^xsd:string ; oboInOwl:hasExactSynonym "Macular degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4448"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "macular degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_4449 oboInOwl:hasDbXref "MESH:D008269"^^xsd:string, "NCI:C35468"^^xsd:string, "SNOMEDCT_US_2021_03_01:37231002"^^xsd:string, "UMLS_CUI:C0271051"^^xsd:string ; oboInOwl:hasExactSynonym "macular edema"@en, "macular oedema"@en, "macular retinal oedema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macular retinal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_6929 . obo:DOID_445 oboInOwl:hasDbXref "GARD:5893"^^xsd:string, "ICD10CM:E26.81"^^xsd:string, "ICD9CM:255.13"^^xsd:string, "MESH:D001477"^^xsd:string, "NCI:C34412"^^xsd:string, "OMIM:PS601678"^^xsd:string, "SNOMEDCT_US_2021_03_01:707742001"^^xsd:string, "UMLS_CUI:C0004775"^^xsd:string ; oboInOwl:hasExactSynonym "Aldosteronism with hyperplasia of the adrenal cortex"@en, "Bartter's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartter disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_4450 obo:IAO_0000115 "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000681"^^xsd:string, "GARD:13215"^^xsd:string, "ICDO:8312/3"^^xsd:string, "MESH:D002292"^^xsd:string, "NCI:C9385"^^xsd:string, "OMIM:300854"^^xsd:string, "ORDO:217071"^^xsd:string, "SNOMEDCT_US_2021_03_01:254915003"^^xsd:string, "UMLS_CUI:C0007134"^^xsd:string ; oboInOwl:hasExactSynonym "RCC"@en, "adenocarcinoma of kidney"@en, "hypernephroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4450"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4451 . obo:DOID_4451 obo:IAO_0000115 "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9384"^^xsd:string, "SNOMEDCT_US_2021_03_01:254915003"^^xsd:string, "UMLS_CUI:C1378703"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of kidney"@en, "kidney carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4451"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4452 oboInOwl:hasExactSynonym "Relapsed Renal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4452"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent renal cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4454 oboInOwl:hasDbXref "NCI:C6568"^^xsd:string, "UMLS_CUI:C1333001"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric renal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4454"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood kidney cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4455 oboInOwl:hasDbXref "GARD:9571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4455"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "hereditary renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_446 obo:IAO_0000115 "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12252"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E24"^^xsd:string, "ICD10CM:E26"^^xsd:string, "ICD9CM:255.0"^^xsd:string, "ICD9CM:255.1"^^xsd:string, "MESH:D003480"^^xsd:string, "MESH:D006929"^^xsd:string, "NCI:C113213"^^xsd:string, "NCI:C2969"^^xsd:string, "OMIM:605635"^^xsd:string, "OMIM:613677"^^xsd:string, "ORDO:235936"^^xsd:string, "SNOMEDCT_US_2021_03_01:154705004"^^xsd:string, "SNOMEDCT_US_2021_03_01:88213004"^^xsd:string, "UMLS_CUI:C0010481"^^xsd:string, "UMLS_CUI:C0020428"^^xsd:string ; oboInOwl:hasExactSynonym "Cushing syndrome"@en, "Cushing's syndrome"@en, "hyperaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:446"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary hyperaldosteronism"^^xsd:string ; rdfs:subClassOf obo:DOID_3947 . obo:DOID_4463 oboInOwl:hasDbXref "NCI:C4524"^^xsd:string, "SNOMEDCT_US_2021_03_01:254916002"^^xsd:string, "UMLS_CUI:C0346249"^^xsd:string ; oboInOwl:hasExactSynonym "cystadenocarcinoma of kidney"@en, "renal cystadenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multilocular clear cell renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4464 obo:IAO_0000115 "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material."^^xsd:string ; oboInOwl:hasDbXref "GARD:9573"^^xsd:string, "MESH:D002292"^^xsd:string, "NCI:C6194"^^xsd:string, "SNOMEDCT_US_2021_03_01:733470002"^^xsd:string, "UMLS_CUI:C1266044"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of renal Collecting duct"@en, "renal Medullary carcinoma"@en, "renal carcinoma, collecting duct type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4464"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "collecting duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001232 ] . obo:DOID_4465 obo:IAO_0000115 "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8063"^^xsd:string ; oboInOwl:hasDbXref "GARD:9572"^^xsd:string, "MESH:C538614"^^xsd:string, "MESH:D002292"^^xsd:string, "NCI:C27890"^^xsd:string, "NCI:C6975"^^xsd:string, "OMIM:605074"^^xsd:string, "SNOMEDCT_US_2021_03_01:4797003"^^xsd:string, "UMLS_CUI:C1306837"^^xsd:string, "UMLS_CUI:C1336078"^^xsd:string ; oboInOwl:hasExactSynonym "Chromophil carcinoma of kidney"@en, "Papillary renal cell carcinoma"@en, "papillary kidney carcinoma"@en, "sporadic papillary renal cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4465"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "papillary renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4467 obo:IAO_0000115 "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope."^^xsd:string ; oboInOwl:hasDbXref "GARD:9574"^^xsd:string, "MESH:D002292"^^xsd:string, "NCI:C4033"^^xsd:string, "SNOMEDCT_US_2021_03_01:254915003"^^xsd:string, "UMLS_CUI:C0279702"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of kidney"@en, "clear cell kidney carcinoma"@en, "conventional (Clear cell) renal cell carcinoma"@en, "conventional renal cell carcinoma"@en, "renal clear cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Clear-cell metastatic renal cell carcinoma"^^xsd:string, "Clear-cell metastatic renal cell carcinoma"@en ; oboInOwl:id "DOID:4467"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C538445 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "clear cell renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4468 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2617"^^xsd:string, "DOID:4940"^^xsd:string ; oboInOwl:hasDbXref "MESH:D008649"^^xsd:string, "MESH:D018262"^^xsd:string, "NCI:C36815"^^xsd:string, "NCI:C4072"^^xsd:string, "NCI:C4156"^^xsd:string, "SNOMEDCT_US_2021_03_01:2221008"^^xsd:string, "SNOMEDCT_US_2021_03_01:30546008"^^xsd:string, "SNOMEDCT_US_2021_03_01:80727009"^^xsd:string, "UMLS_CUI:C0025490"^^xsd:string, "UMLS_CUI:C0206681"^^xsd:string, "UMLS_CUI:C0334322"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell adenocarcinoma"@en, "Mesonephroid Clear cell carcinoma"@en, "Mesonephroma"@en, "Mesonephroma, malignant"@en, "Water-Clear cell adenocarcinoma"@en, "Water-clear cell adenocarcinoma"@en, "Water-clear cell carcinoma"@en, "Wolffian duct neoplasm"@en, "malignant Mesonephroma"@en, "mesonephroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4468"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_447 oboInOwl:hasDbXref "MESH:D015499"^^xsd:string, "UMLS_CUI:C0035091"^^xsd:string ; oboInOwl:hasExactSynonym "inborn renal tubular transport disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:447"^^xsd:string ; a owl:Class ; rdfs:label "renal tubular transport disease"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_4471 obo:IAO_0000115 "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6064"^^xsd:string, "MESH:D002292"^^xsd:string, "NCI:C4146"^^xsd:string, "SNOMEDCT_US_2021_03_01:128667008"^^xsd:string, "UMLS_CUI:C1266042"^^xsd:string ; oboInOwl:hasExactSynonym "Chromophobe carcinoma of kidney"@en, "chromophobe adenocarcinoma"@en, "kidney chromophobe"@en, "renal cell carcinoma, chromophobe cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4471"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromophobe renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4472 oboInOwl:hasDbXref "NCI:C39807"^^xsd:string, "UMLS_CUI:C1513719"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous tubular and spindle renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4473 oboInOwl:hasDbXref "MESH:D002292"^^xsd:string, "NCI:C27893"^^xsd:string, "SNOMEDCT_US_2021_03_01:128668003"^^xsd:string, "UMLS_CUI:C1266043"^^xsd:string ; oboInOwl:hasExactSynonym "renal cell carcinoma, spindle cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4473"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4450 . obo:DOID_4478 oboInOwl:hasExactSynonym "Drug-induced dyskinesia"@en, "Drug-induced dyskinesia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4478"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug-Induced dyskinesia"^^xsd:string ; owl:deprecated true . obo:DOID_4479 oboInOwl:hasDbXref "MESH:D011546"^^xsd:string, "NCI:C85034"^^xsd:string, "SNOMEDCT_US_2021_03_01:77098009"^^xsd:string, "UMLS_CUI:C0033805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4479"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudohypoaldosteronism"^^xsd:string ; rdfs:subClassOf obo:DOID_447 . obo:DOID_448 oboInOwl:hasExactSynonym "face neoplasm"@en, "neoplasm of face (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:448"^^xsd:string ; a owl:Class ; rdfs:label "obsolete facial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4480 obo:IAO_0000115 "An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:8173"^^xsd:string, "ICD10CM:Q77.4"^^xsd:string, "MESH:D000130"^^xsd:string, "NCI:C34345"^^xsd:string, "OMIM:100800"^^xsd:string, "SNOMEDCT_US_2021_03_01:268273004"^^xsd:string, "UMLS_CUI:C0001080"^^xsd:string ; oboInOwl:hasExactSynonym "Achondroplastic physique"@en, "Chondrodystrophia"@en, "osteosclerosis congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] ; skos:exactMatch "MESH:D000130"^^xsd:string . obo:DOID_4481 obo:IAO_0000115 "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12089"^^xsd:string, "DOID:14030"^^xsd:string, "DOID:8241"^^xsd:string, "DOID:8242"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003956"^^xsd:string, "NCI:C34987"^^xsd:string, "OMIM:607154"^^xsd:string, "SNOMEDCT_US_2021_03_01:38103000"^^xsd:string, "UMLS_CUI:C0002103"^^xsd:string ; oboInOwl:hasExactSynonym "Non-seasonal allergic rhinitis"@en, "Perenial allergic rhinitis"@en, "atopic rhinitis"@en, "hay fever"@en, "pollenosis"@en, "seasonal allergic rhinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4481"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic rhinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_4483, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] ; skos:exactMatch "MESH:D065631"^^xsd:string . obo:DOID_4483 obo:IAO_0000115 "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012220"^^xsd:string, "NCI:C34986"^^xsd:string, "SNOMEDCT_US_2021_03_01:70076002"^^xsd:string, "UMLS_CUI:C0035455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "runny nose"@en ; oboInOwl:id "DOID:4483"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rhinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2163 . obo:DOID_4486 oboInOwl:hasDbXref "NCI:C4282"^^xsd:string, "SNOMEDCT_US_2021_03_01:30383009"^^xsd:string, "UMLS_CUI:C0334515"^^xsd:string ; oboInOwl:hasExactSynonym "Mesothelioma, biphasic, malignant"@en, "mixed Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant biphasic mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1790 . obo:DOID_4488 oboInOwl:hasDbXref "NCI:C45655"^^xsd:string, "SNOMEDCT_US_2021_03_01:54443001"^^xsd:string, "UMLS_CUI:C0334513"^^xsd:string ; oboInOwl:hasExactSynonym "malignant fibrous Mesothelioma"@en, "malignant fibrous mesothelioma"@en, "spindled mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1790 . obo:DOID_4489 oboInOwl:hasDbXref "NCI:C7985"^^xsd:string, "SNOMEDCT_US_2021_03_01:65278006"^^xsd:string, "UMLS_CUI:C0862312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4489"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant epithelial mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1790 . obo:DOID_449 oboInOwl:hasExactSynonym "head neoplasm"@en, "neoplasm of head (disorder)"@en, "neoplasm of the head"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:449"^^xsd:string ; a owl:Class ; rdfs:label "obsolete head neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4490 oboInOwl:hasExactSynonym "Pleural and peritoneal Solitary fibrous tumor"@en, "Pleural and peritoneal Solitary fibrous tumour"@en, "malignant peritoneal solitary fibrous tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4490"^^xsd:string ; a owl:Class ; rdfs:label "malignant peritoneal solitary fibrous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1725 . obo:DOID_4491 obo:IAO_0000115 "A syndrome affecting returning military veterans and civilian workers of the Gulf War."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018923"^^xsd:string, "SNOMEDCT_US_2021_03_01:95877004"^^xsd:string, "UMLS_CUI:C0282550"^^xsd:string ; oboInOwl:hasExactSynonym "Gulf war syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4491"^^xsd:string ; a owl:Class ; rdfs:label "persian gulf syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_4492 obo:IAO_0000115 "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J09.X"^^xsd:string, "MESH:D005585"^^xsd:string, "SNOMEDCT_US_2021_03_01:55604004"^^xsd:string, "UMLS_CUI:C0016627"^^xsd:string ; oboInOwl:hasExactSynonym "avian flu"@en, "bird flu"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4492"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "avian influenza"^^xsd:string ; rdfs:subClassOf obo:DOID_8469, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11320 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_4493 obo:IAO_0000115 "A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites."^^xsd:string ; oboInOwl:hasExactSynonym "Orthomyxoviridae disease"@en, "disease due to Orthomyxoviridae (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4493"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Orthomyxoviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4496 oboInOwl:hasExactSynonym "metastasis to the Cervix Uteri"@en, "secondary malignant neoplasm of cervix uteri (disorder)"@en, "secondary malignant neoplasm of uterine cervix (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4496"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant neoplasm to the cervix"^^xsd:string ; owl:deprecated true . obo:DOID_4499 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4499"^^xsd:string ; a owl:Class ; rdfs:label "obsolete child nutrition disorder"^^xsd:string ; owl:deprecated true . obo:DOID_450 obo:IAO_0000115 "A muscular dystrophy that is characterized by progressive muscle wasting and weakness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.1"^^xsd:string, "ICD9CM:359.2"^^xsd:string, "MESH:D020967"^^xsd:string, "NCI:C84913"^^xsd:string, "SNOMEDCT_US_2021_03_01:155096007"^^xsd:string, "UMLS_CUI:C0553604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:450"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myotonic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; skos:exactMatch "MESH:D009223"^^xsd:string . obo:DOID_4500 oboInOwl:hasDbXref "NCI:C34939"^^xsd:string, "UMLS_CUI:C1514284"^^xsd:string ; oboInOwl:hasExactSynonym "hypopotassemia"@en, "potassium deficiency disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypokalemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050032 . obo:DOID_4501 obo:IAO_0000115 "A syndrome that is characterized by malformations of the face, oral cavity, and digits."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:D009958"^^xsd:string, "SNOMEDCT_US_2021_03_01:52868006"^^xsd:string, "UMLS_CUI:C0029294"^^xsd:string ; oboInOwl:hasExactSynonym "oral-facial-digital syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4501"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "orofaciodigital syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_4502 oboInOwl:hasExactSynonym "relapsed hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4502"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed angiosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4504 obo:IAO_0000115 "A central nervous system sarcoma that is located_in the inner lining of blood vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5450"^^xsd:string, "UMLS_CUI:C1332875"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2133 . obo:DOID_4505 obo:IAO_0000115 "An angiosarcoma that affects children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9174"^^xsd:string, "UMLS_CUI:C0279988"^^xsd:string ; oboInOwl:hasExactSynonym "paediatric angiosarcoma"@en, "paediatric hemangiosarcoma"@en, "pediatric angiosarcoma"^^xsd:string, "pediatric hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4505"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4509 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4509"^^xsd:string ; a owl:Class ; rdfs:label "obsolete angiosarcoma associated with lymphedema"^^xsd:string ; owl:deprecated true . obo:DOID_4510 obo:IAO_0000115 "An angiosarcoma that is located_in the aorta."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5376"^^xsd:string, "UMLS_CUI:C1332312"^^xsd:string ; oboInOwl:hasExactSynonym "Aortic hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4510"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aorta angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_520, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000947 ] . obo:DOID_4511 obo:IAO_0000115 "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536368"^^xsd:string, "NCI:C5184"^^xsd:string, "UMLS_CUI:C1332614"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4511"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_4512 oboInOwl:hasDbXref "NCI:C9426"^^xsd:string, "UMLS_CUI:C1333155"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4512"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816 . obo:DOID_4513 obo:IAO_0000115 "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5840"^^xsd:string, "UMLS_CUI:C1333742"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4513"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_4514 obo:IAO_0000115 "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6043"^^xsd:string, "UMLS_CUI:C1336748"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of the Thyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4515 . obo:DOID_4515 obo:IAO_0000115 "A thyroid gland cancer that is located_in the supporting cells of the thyroid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6041"^^xsd:string, "UMLS_CUI:C1336756"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the Thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4515"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_1781, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002046 ] . obo:DOID_4517 obo:IAO_0000115 "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4489"^^xsd:string, "SNOMEDCT_US_2021_03_01:254794007"^^xsd:string, "UMLS_CUI:C0346081"^^xsd:string ; oboInOwl:hasExactSynonym "angiosarcoma of skin"@en, "hemangiosarcoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4517"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2687 . obo:DOID_452 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that is a located_in the salivary glands."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008949"^^xsd:string, "NCI:C35691"^^xsd:string, "OMIM:181030"^^xsd:string, "SNOMEDCT_US_2021_03_01:8360001"^^xsd:string, "UMLS_CUI:C0026277"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic adenoma"@en, "mixed tumor of the Salivary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 . obo:DOID_4520 obo:IAO_0000115 "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40220"^^xsd:string, "UMLS_CUI:C3642326"^^xsd:string ; oboInOwl:hasExactSynonym "endometrial stromal sarcoma of the cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4520"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical endometrial stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4521 . obo:DOID_4521 obo:IAO_0000115 "A cervical cancer that derives_from the fibrous connective tissue of the endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40218"^^xsd:string, "UMLS_CUI:C4289586"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix endometrial stromal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4362 . obo:DOID_4522 oboInOwl:hasDbXref "NCI:C5378"^^xsd:string, "UMLS_CUI:C1336530"^^xsd:string ; oboInOwl:hasExactSynonym "angiosarcoma of the Superior Vena Cava"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "superior vena cava angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_866, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001585 ] . obo:DOID_4524 obo:IAO_0000115 "An angiosarcoma and sarcoma of prostate that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5528"^^xsd:string, "UMLS_CUI:C1335504"^^xsd:string ; oboInOwl:hasExactSynonym "Prostatic hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4524"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4054 . obo:DOID_4525 obo:IAO_0000115 "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6613"^^xsd:string, "UMLS_CUI:C1334649"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4525"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816 . obo:DOID_4527 obo:IAO_0000115 "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5232"^^xsd:string, "UMLS_CUI:C1335152"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4527"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0001816, obo:DOID_1115, obo:DOID_2394, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_4531 obo:IAO_0000115 "A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10671"^^xsd:string, "MESH:D018277"^^xsd:string, "NCI:C3772"^^xsd:string, "SNOMEDCT_US_2021_03_01:4079000"^^xsd:string, "UMLS_CUI:C0206694"^^xsd:string ; oboInOwl:hasExactSynonym "MEC"@en, "Mucoepidermoid carcinoma"@en, "salivary gland mucoepidermoid carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050904 . obo:DOID_4534 obo:IAO_0000115 "A syndrome that affects growth, cranial development, hair growth and dental development."^^xsd:string ; oboInOwl:hasDbXref "GARD:288"^^xsd:string, "MESH:D006210"^^xsd:string, "NCI:C84746"^^xsd:string, "OMIM:234100"^^xsd:string, "ORDO:2108"^^xsd:string, "SNOMEDCT_US_2021_03_01:7903009"^^xsd:string, "UMLS_CUI:C0018522"^^xsd:string ; oboInOwl:hasExactSynonym "Francois dyscephalic syndrome"@en, "Hallerman - Streiff syndrome"@en, "Hallermann's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4534"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hallermann-Streiff syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_4535 obo:IAO_0000115 "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007039"^^xsd:string, "OMIM:PS605389"^^xsd:string, "ORDO:55654"^^xsd:string, "SNOMEDCT_US_2021_03_01:53602002"^^xsd:string, "UMLS_CUI:C0020678"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4535"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypotrichosis"^^xsd:string ; rdfs:subClassOf obo:DOID_421 . obo:DOID_4539 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4539"^^xsd:string ; a owl:Class ; rdfs:comment "merged labyrinthine disease into inner ear disease [LS]"^^xsd:string ; rdfs:label "obsolete labyrinthine disease"^^xsd:string ; owl:deprecated true . obo:DOID_4540 obo:IAO_0000115 "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R48.8"^^xsd:string, "MESH:D000381"^^xsd:string, "SNOMEDCT_US_2021_03_01:27206009"^^xsd:string, "UMLS_CUI:C0001825"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4540"^^xsd:string ; a owl:Class ; rdfs:label "dysgraphia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060047 . obo:DOID_4541 obo:IAO_0000115 "An agnosia that involves a severe problem with recalling words or names."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000849"^^xsd:string, "NCI:C34386"^^xsd:string, "SNOMEDCT_US_2021_03_01:10325006"^^xsd:string, "UMLS_CUI:C0003113"^^xsd:string ; oboInOwl:hasExactSynonym "Anomic aphasia"@en, "anomia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4541"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nominal aphasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060046 . obo:DOID_4542 oboInOwl:hasDbXref "MESH:D000237"^^xsd:string, "NCI:C2856"^^xsd:string, "SNOMEDCT_US_2021_03_01:9436005"^^xsd:string, "UMLS_CUI:C0001431"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary gland Basophilic adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4542"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basophil adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000767 ] . obo:DOID_4543 obo:IAO_0000115 "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R41.2"^^xsd:string, "MESH:D000648"^^xsd:string, "NCI:C34372"^^xsd:string, "SNOMEDCT_US_2021_03_01:51921000"^^xsd:string, "UMLS_CUI:C0002624"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4543"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retrograde amnesia"^^xsd:string ; rdfs:subClassOf obo:DOID_10914 . obo:DOID_4545 oboInOwl:hasDbXref "ICDO:9240/3"^^xsd:string, "MESH:D018211"^^xsd:string, "NCI:C3737"^^xsd:string, "SNOMEDCT_US_2021_03_01:56565002"^^xsd:string, "UMLS_CUI:C0206637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4545"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesenchymal chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_4546 oboInOwl:hasDbXref "NCI:C27374"^^xsd:string, "UMLS_CUI:C1332982"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric mesenchymal chondrosarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4546"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood mesenchymal chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4545, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4547 obo:IAO_0000115 "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27375"^^xsd:string, "UMLS_CUI:C1332207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4547"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult mesenchymal chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4545, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_4548 oboInOwl:hasDbXref "NCI:C27481"^^xsd:string, "SNOMEDCT_US_2021_03_01:404080006"^^xsd:string, "UMLS_CUI:C1275279"^^xsd:string ; oboInOwl:hasExactSynonym "mesenchymal extraosseous chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4548"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extraskeletal mesenchymal chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4549 . obo:DOID_4549 obo:IAO_0000115 "A chondrosarcoma that is located_in exclusively soft tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4549"^^xsd:string ; a owl:Class ; rdfs:label "extraosseous chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_4550 oboInOwl:hasDbXref "MESH:D000694"^^xsd:string, "UMLS_CUI:C0002757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4550"^^xsd:string ; a owl:Class ; rdfs:label "anal gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4551 . obo:DOID_4551 oboInOwl:hasDbXref "MESH:D001005"^^xsd:string, "NCI:C2877"^^xsd:string, "SNOMEDCT_US_2021_03_01:126849006"^^xsd:string, "UMLS_CUI:C0003463"^^xsd:string ; oboInOwl:hasExactSynonym "anal neoplasm"@en, "anal tumors"@en, "neoplasm of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4551"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3128, obo:DOID_4610 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] ) ] . obo:DOID_4552 obo:IAO_0000115 "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018287"^^xsd:string, "NCI:C3780"^^xsd:string, "SNOMEDCT_US_2021_03_01:22687000"^^xsd:string, "UMLS_CUI:C0206704"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4552"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_4553 oboInOwl:hasDbXref "NCI:C6461"^^xsd:string, "UMLS_CUI:C1334364"^^xsd:string ; oboInOwl:hasExactSynonym "large cell carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4553"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus large cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3284, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_4554 oboInOwl:hasDbXref "NCI:C7612"^^xsd:string, "SNOMEDCT_US_2021_03_01:15949004"^^xsd:string, "UMLS_CUI:C1322286"^^xsd:string ; oboInOwl:hasExactSynonym "Thymoma, type C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4554"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "type C thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_4555 obo:IAO_0000115 "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis in neuroendocrine cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5238"^^xsd:string, "UMLS_CUI:C1335174"^^xsd:string ; oboInOwl:hasExactSynonym "Non-small-cell type neuroendocrine carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4555"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian large-cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_4556 oboInOwl:hasDbXref "NCI:C4450"^^xsd:string, "SNOMEDCT_US_2021_03_01:254629004"^^xsd:string, "UMLS_CUI:C0345958"^^xsd:string ; oboInOwl:hasExactSynonym "large cell carcinoma of lung"@en, "large cell lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4556"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung large cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3908, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_4557 obo:IAO_0000115 "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007967"^^xsd:string, "SNOMEDCT_US_2021_03_01:67795000"^^xsd:string, "UMLS_CUI:C0023523"^^xsd:string ; oboInOwl:hasExactSynonym "Leukedema of mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4557"^^xsd:string ; a owl:Class ; rdfs:comment "Dorland, 27th ed [LS]"^^xsd:string ; rdfs:label "oral leukoedema"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_4558 oboInOwl:hasDbXref "MESH:D008158"^^xsd:string, "SNOMEDCT_US_2021_03_01:54572003"^^xsd:string, "UMLS_CUI:C0024081"^^xsd:string ; oboInOwl:hasExactSynonym "Ludwig angina"@en, "cellulitis of floor of mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4558"^^xsd:string ; a owl:Class ; rdfs:label "Ludwig's angina"^^xsd:string ; rdfs:subClassOf obo:DOID_3488 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3488 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003679 ] ) ] . obo:DOID_456 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B77"^^xsd:string, "ICD9CM:127.0"^^xsd:string, "MESH:D001196"^^xsd:string, "NCI:C128392"^^xsd:string, "SNOMEDCT_US_2021_03_01:2435008"^^xsd:string, "UMLS_CUI:C0003950"^^xsd:string ; oboInOwl:hasExactSynonym "Ascariasis - roundworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Ascaris lumbricoides infection"@en ; oboInOwl:id "DOID:456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ascariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6251 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000604 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4560 obo:IAO_0000115 "An endometritis that is present for weeks or more and does not have an identifiable causative organism."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27625"^^xsd:string, "UMLS_CUI:C1335061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4560"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "non specific chronic endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1002 . obo:DOID_4561 obo:IAO_0000115 "An endometritis that is characterized by the presence of granulomas in the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27626"^^xsd:string, "UMLS_CUI:C1333876"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4561"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatous endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1002 . obo:DOID_4562 oboInOwl:hasDbXref "MESH:D004698"^^xsd:string, "NCI:C34583"^^xsd:string, "SNOMEDCT_US_2021_03_01:155334001"^^xsd:string, "UMLS_CUI:C0014122"^^xsd:string ; oboInOwl:hasExactSynonym "Endocarditis lenta"@en, "SBE - Subacute bacterial endocarditis"@en, "Subacute bacterial endocarditis"@en, "Subacute endocarditis, lenta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "subacute bacterial endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000262 ] . obo:DOID_457 obo:IAO_0000115 "A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:457"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ascaridida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4582 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4582"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4583 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4583"^^xsd:string ; a owl:Class ; rdfs:label "obsolete deletion of short arm of chromosome 1 (1p) associated meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4584 oboInOwl:hasDbXref "NCI:C4719"^^xsd:string, "SNOMEDCT_US_2021_03_01:253082002"^^xsd:string, "UMLS_CUI:C0431118"^^xsd:string ; oboInOwl:hasExactSynonym "Choroid meningioma"@en, "meningioma of the Choroid Plexus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4584"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid plexus meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3540, obo:DOID_6112 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001886 ] ) ] . obo:DOID_4585 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4585"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4586 oboInOwl:hasDbXref "MESH:C537443"^^xsd:string, "NCI:C5301"^^xsd:string, "UMLS_CUI:C1333989"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4586"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_4587 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4055"^^xsd:string, "SNOMEDCT_US_2021_03_01:724171006"^^xsd:string, "UMLS_CUI:C0281784"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma, benign"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_4588 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4718"^^xsd:string, "SNOMEDCT_US_2021_03_01:253081009"^^xsd:string, "UMLS_CUI:C1384406"^^xsd:string ; oboInOwl:hasExactSynonym "Secretory meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4588"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secretory meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_4589 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4589"^^xsd:string ; a owl:Class ; rdfs:label "obsolete deletion of chromosome 22 associated meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4590 oboInOwl:hasExactSynonym "meningiomatosis"@en, "meningiomatosis (morphologic abnormality)"@en, "meningiomatosis NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4590"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multiple meningiomas"^^xsd:string ; owl:deprecated true . obo:DOID_4591 oboInOwl:hasDbXref "NCI:C4720"^^xsd:string, "SNOMEDCT_US_2021_03_01:19453003"^^xsd:string, "UMLS_CUI:C0431119"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoplasmacyte-Rich meningioma"@en, "Lymphoplasmocyte-rich meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4591"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoplasmacyte-rich meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_4593 oboInOwl:hasDbXref "NCI:C8264"^^xsd:string, "UMLS_CUI:C0280656"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric meningioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4593"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4594 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4721"^^xsd:string, "SNOMEDCT_US_2021_03_01:253084001"^^xsd:string, "UMLS_CUI:C1384408"^^xsd:string ; oboInOwl:hasExactSynonym "Microcystic meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microcystic meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_4595 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4595"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4596 oboInOwl:hasExactSynonym "neoplasm of adult CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4596"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system adult tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4598 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4598"^^xsd:string ; a owl:Class ; rdfs:label "obsolete deletion of chromosome 3p associated meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_4603 oboInOwl:hasDbXref "GARD:1039"^^xsd:string, "ICD10CM:Q80.3"^^xsd:string, "MESH:D017488"^^xsd:string, "NCI:C62569"^^xsd:string, "OMIM:113800"^^xsd:string, "SNOMEDCT_US_2021_03_01:20512000"^^xsd:string, "UMLS_CUI:C0079153"^^xsd:string ; oboInOwl:hasExactSynonym "Bullous ichthyosiform erythroderma"@en, "Epidermolytic palmoplantar hyperkeratosis"@en, "bullous congenital ichthyosiform erythroderma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "epidermolytic hyperkeratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_4606 obo:IAO_0000115 "A biliary tract cancer that is located_in the bile duct."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10019"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C24.0"^^xsd:string, "ICD9CM:156.1"^^xsd:string, "MESH:D001650"^^xsd:string, "NCI:C2898"^^xsd:string, "NCI:C7483"^^xsd:string, "SNOMEDCT_US_2021_03_01:93790004"^^xsd:string, "UMLS_CUI:C0005396"^^xsd:string, "UMLS_CUI:C0153453"^^xsd:string ; oboInOwl:hasExactSynonym "Ca extrahepatic bile ducts"@en, "bile duct tumor"@en, "malignant neoplasm of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "bile duct cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4138, obo:DOID_4607 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] ) ] . obo:DOID_4607 obo:IAO_0000115 "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8092"^^xsd:string ; oboInOwl:hasDbXref "GARD:5924"^^xsd:string, "GARD:9304"^^xsd:string, "ICD10CM:C24.9"^^xsd:string, "ICD9CM:156.9"^^xsd:string, "MESH:D001661"^^xsd:string, "SNOMEDCT_US_2021_03_01:126853008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93688006"^^xsd:string, "UMLS_CUI:C0005426"^^xsd:string, "UMLS_CUI:C0750952"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of biliary tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4607"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "biliary tract cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0080355 . obo:DOID_4608 oboInOwl:hasDbXref "MESH:D003138"^^xsd:string, "SNOMEDCT_US_2021_03_01:126857009"^^xsd:string, "UMLS_CUI:C0009442"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of common bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4608"^^xsd:string ; a owl:Class ; rdfs:label "common bile duct neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625 . obo:DOID_461 oboInOwl:hasAlternativeId "DOID:2692"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009379"^^xsd:string, "MESH:D019042"^^xsd:string, "NCI:C4063"^^xsd:string, "SNOMEDCT_US_2021_03_01:115228006"^^xsd:string, "UMLS_CUI:C0027664"^^xsd:string, "UMLS_CUI:C0282606"^^xsd:string ; oboInOwl:hasExactSynonym "Myomatous neoplasm"@en, "Myomatous tumor"@en, "muscle neoplasm"@en, "muscle tissue neoplasm"@en, "neoplasm of muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:461"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "muscle benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060099, obo:DOID_0080000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_4610 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007414"^^xsd:string, "NCI:C3141"^^xsd:string, "SNOMEDCT_US_2021_03_01:126769007"^^xsd:string, "UMLS_CUI:C0021841"^^xsd:string ; oboInOwl:hasExactSynonym "intestinal tumors"@en, "intestine growth"@en, "neoplasm of intestinal tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4610"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_4613 oboInOwl:hasDbXref "MESH:D020424"^^xsd:string, "SNOMEDCT_US_2021_03_01:55802003"^^xsd:string, "UMLS_CUI:C0154743"^^xsd:string ; oboInOwl:hasExactSynonym "Ulnar neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4613"^^xsd:string ; a owl:Class ; rdfs:label "ulnar neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_4615 oboInOwl:hasExactSynonym "carcinoma of unknown primary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4615"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma of unknown primary"^^xsd:string ; owl:deprecated true . obo:DOID_4616 obo:IAO_0000115 "A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung."^^xsd:string ; oboInOwl:hasExactSynonym "Atypical interstitial pneumonia of cattle (disorder)"@en, "Fog fever"@en, "acute bovine pulmonary emphysema AND edema (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4616"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bovine atypical interstitial pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_4617 oboInOwl:hasDbXref "MESH:D010484"^^xsd:string, "SNOMEDCT_US_2021_03_01:196344002"^^xsd:string, "UMLS_CUI:C0031029"^^xsd:string ; oboInOwl:hasExactSynonym "Apical granuloma"@en, "Periapical granuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4617"^^xsd:string ; a owl:Class ; rdfs:label "periapical granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_4618 obo:IAO_0000115 "A jaw cancer that effects the maxilla or upper jaw."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008441"^^xsd:string, "SNOMEDCT_US_2021_03_01:126550004"^^xsd:string, "UMLS_CUI:C0024954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "maxillary neoplasm"@en, "upper jaw bone cancer"@en ; oboInOwl:id "DOID:4618"^^xsd:string ; a owl:Class ; rdfs:label "maxillary cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1862 . obo:DOID_462 obo:IAO_0000115 "A cancer that affects an anatomical entity."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8996"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of aortic body and other paraganglia"@en, "malignant neoplasm of aortic body and other paraganglia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:462"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cancer by anatomical entity"^^xsd:string ; owl:deprecated true . obo:DOID_4621 obo:IAO_0000115 "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies."^^xsd:string ; oboInOwl:hasDbXref "GARD:6665"^^xsd:string, "ICD10CM:Q04.2"^^xsd:string, "MESH:D016142"^^xsd:string, "NCI:C74988"^^xsd:string, "OMIM:PS236100"^^xsd:string, "ORDO:2162"^^xsd:string, "SNOMEDCT_US_2021_03_01:30915001"^^xsd:string, "UMLS_CUI:C0079541"^^xsd:string ; oboInOwl:hasExactSynonym "Holoprosencephaly sequence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4621"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "holoprosencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_2490, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] . obo:DOID_4624 obo:IAO_0000115 "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet."^^xsd:string ; oboInOwl:hasDbXref "GARD:7251"^^xsd:string, "ICD10CM:Q78.4"^^xsd:string, "MESH:D004687"^^xsd:string, "NCI:C3213"^^xsd:string, "OMIM:166000"^^xsd:string, "ORDO:296"^^xsd:string, "SNOMEDCT_US_2021_03_01:46041001"^^xsd:string, "UMLS_CUI:C0024454"^^xsd:string ; oboInOwl:hasExactSynonym "DYSCHONDROPLASIA"@en, "ENCHONDROMATOSIS, MULTIPLE"@en, "Enchondromatosis with haemangiomata"@en, "Kast's syndrome"@en, "OSTEOCHONDROMATOSIS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4624"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ollier disease"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_4625 oboInOwl:hasExactSynonym "Enchondromatosis (disorder)"@en, "Ollier disease"@en, "Ollier's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4625"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enchondromatosis"^^xsd:string ; owl:deprecated true . obo:DOID_4626 oboInOwl:hasDbXref "GARD:6681"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "MESH:D006832"^^xsd:string, "NCI:C98949"^^xsd:string, "SNOMEDCT_US_2021_03_01:30023002"^^xsd:string, "UMLS_CUI:C0020225"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hydranencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0060668 . obo:DOID_4627 oboInOwl:hasDbXref "MESH:D020240"^^xsd:string, "SNOMEDCT_US_2021_03_01:39746003"^^xsd:string, "UMLS_CUI:C0234523"^^xsd:string ; oboInOwl:hasExactSynonym "Classic apraxia"@en, "Ideomotor dyspraxia"@en, "Limb-kinetic apraxia"@en, "Transcortical apraxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4627"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "ideomotor apraxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060135 . obo:DOID_4629 obo:IAO_0000115 "A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4629"^^xsd:string ; a owl:Class ; rdfs:label "obsolete porcine reproductive and respiratory syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_4630 oboInOwl:hasDbXref "NCI:C4118"^^xsd:string, "SNOMEDCT_US_2021_03_01:46580000"^^xsd:string, "UMLS_CUI:C0334269"^^xsd:string ; oboInOwl:hasExactSynonym "transitional papilloma, inverted"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4630"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inverted transitional papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2670 . obo:DOID_4631 oboInOwl:hasExactSynonym "Inverting papilloma of Accessory sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4631"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inverted papilloma of paranasal sinus"^^xsd:string ; owl:deprecated true . obo:DOID_4633 oboInOwl:hasDbXref "NCI:C8194"^^xsd:string, "UMLS_CUI:C0280336"^^xsd:string ; oboInOwl:hasExactSynonym "Inverting papilloma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity inverting papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_9310 . obo:DOID_4636 oboInOwl:hasDbXref "NCI:C27016"^^xsd:string, "SNOMEDCT_US_2021_03_01:15170009"^^xsd:string, "UMLS_CUI:C0235591"^^xsd:string ; oboInOwl:hasExactSynonym "Submandibular Lymphadenitis"@en, "Submandibular lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "submandibular adenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4637 . obo:DOID_4637 oboInOwl:hasDbXref "NCI:C26937"^^xsd:string, "SNOMEDCT_US_2021_03_01:3502005"^^xsd:string, "UMLS_CUI:C0149642"^^xsd:string ; oboInOwl:hasExactSynonym "cervical Lymphadenitis"@en, "cervical lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4637"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_4638 oboInOwl:hasDbXref "NCI:C27332"^^xsd:string, "UMLS_CUI:C0919638"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4638"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "postauricular lymphadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_4639 oboInOwl:hasDbXref "NCI:C27135"^^xsd:string, "SNOMEDCT_US_2021_03_01:48573006"^^xsd:string, "UMLS_CUI:C0392051"^^xsd:string ; oboInOwl:hasExactSynonym "Suppurative lymphadenopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "suppurative lymphadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_4640 oboInOwl:hasDbXref "NCI:C27333"^^xsd:string, "UMLS_CUI:C0919797"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4640"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "axillary adenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_4641 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4641"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacteroides infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4644 obo:IAO_0000115 "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:10752"^^xsd:string, "ICD10CM:Q81.0"^^xsd:string, "MESH:D016110"^^xsd:string, "NCI:C84692"^^xsd:string, "OMIM:601001"^^xsd:string, "OMIM:615425"^^xsd:string, "ORDO:304"^^xsd:string, "SNOMEDCT_US_2021_03_01:205585003"^^xsd:string, "UMLS_CUI:C0079298"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermolysis bullosa simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4644"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex"^^xsd:string ; rdfs:subClassOf obo:DOID_2730 . obo:DOID_4645 oboInOwl:hasAlternativeId "DOID:770"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.2"^^xsd:string, "ICD9CM:190.5"^^xsd:string, "MESH:D019572"^^xsd:string, "NCI:C3216"^^xsd:string, "NCI:C4800"^^xsd:string, "SNOMEDCT_US_2021_03_01:127002001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93987004"^^xsd:string, "UMLS_CUI:C0024622"^^xsd:string, "UMLS_CUI:C0524801"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal tumor"@en, "malignant Retinal neoplasm"@en, "malignant neoplasm of retina"@en, "malignant tumor of retina"@en, "neoplasm of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4645"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2174, obo:DOID_5679 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_4647 obo:IAO_0000115 "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4647"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "trilateral retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4648 oboInOwl:hasDbXref "MESH:D012175"^^xsd:string, "NCI:C8495"^^xsd:string, "UMLS_CUI:C0751483"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary Retinoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4648"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4650 obo:IAO_0000115 "A retinoblastoma that develops in both eyes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8713"^^xsd:string, "UMLS_CUI:C0854914"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4650"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bilateral retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4651 obo:IAO_0000115 "A retinoblastoma that effects only one eye."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8714"^^xsd:string, "UMLS_CUI:C0854915"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4651"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "unilateral retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4653 obo:IAO_0000115 "A retinoblastoma that is located_in the eye and has not spread to other parts of the body."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7846"^^xsd:string, "UMLS_CUI:C0278717"^^xsd:string ; oboInOwl:hasExactSynonym "Intraocular Retinoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4653"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraocular retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4655 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4655"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed retinoblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_4656 obo:IAO_0000115 "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7848"^^xsd:string, "UMLS_CUI:C0278719"^^xsd:string ; oboInOwl:hasExactSynonym "Extraocular Retinoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extraocular retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_768 . obo:DOID_4658 oboInOwl:hasDbXref "ICD10CM:D47.09"^^xsd:string, "NCI:C9303"^^xsd:string, "SNOMEDCT_US_2021_03_01:134333006"^^xsd:string, "UMLS_CUI:C0024897"^^xsd:string ; oboInOwl:hasExactSynonym "benign Mastocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4658"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign mastocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] ) ] . obo:DOID_4659 oboInOwl:hasDbXref "ICD10CM:D47.09"^^xsd:string, "MESH:D034801"^^xsd:string, "NCI:C7136"^^xsd:string, "SNOMEDCT_US_2021_03_01:63175003"^^xsd:string, "UMLS_CUI:C0272202"^^xsd:string ; oboInOwl:hasExactSynonym "Extracutaneous mastocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4659"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extracutaneous mastocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_349, obo:DOID_3664 . obo:DOID_4660 oboInOwl:hasDbXref "ICD10CM:D47.02"^^xsd:string, "MESH:D034721"^^xsd:string, "NCI:C9286"^^xsd:string, "SNOMEDCT_US_2021_03_01:70910003"^^xsd:string, "UMLS_CUI:C0272203"^^xsd:string ; oboInOwl:hasExactSynonym "ISM"@en, "Indolent systemic mastocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "indolent systemic mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_349, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] . obo:DOID_4661 obo:IAO_0000115 "A syndrome that is an adverse physical reaction to low levels of many common chemicals."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018777"^^xsd:string, "SNOMEDCT_US_2021_03_01:702772003"^^xsd:string, "UMLS_CUI:C0242992"^^xsd:string ; oboInOwl:hasExactSynonym "20th century disease"@en, "chemical AIDS"@en, "environmental illness"@en, "idiopathic environmental illness"@en, "total allergy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4661"^^xsd:string ; a owl:Class ; rdfs:label "multiple chemical sensitivity"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_4662 obo:IAO_0000115 "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013786"^^xsd:string, "NCI:C85186"^^xsd:string, "UMLS_CUI:C0039726"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4662"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thalamic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_4664 oboInOwl:hasDbXref "ICD10CM:H16.12"^^xsd:string, "ICD9CM:370.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:51286002"^^xsd:string, "UMLS_CUI:C0155077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4664"^^xsd:string ; a owl:Class ; rdfs:label "filamentary keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_4665 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4665"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial keratitis without conjunctivitis"^^xsd:string ; owl:deprecated true . obo:DOID_4667 obo:IAO_0000115 "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column."^^xsd:string ; oboInOwl:hasExactSynonym "Kyphosis deformity of spine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4667"^^xsd:string ; a owl:Class ; rdfs:label "obsolete kyphosis"^^xsd:string ; owl:deprecated true . obo:DOID_4668 obo:IAO_0000115 "A kyphosis that results_in abnormal formation located_in body of vertebra."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4668"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital kyphosis"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_467 oboInOwl:hasDbXref "NCI:C4296"^^xsd:string, "SNOMEDCT_US_2021_03_01:56468002"^^xsd:string, "UMLS_CUI:C0334532"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:467"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "venous hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_4671 oboInOwl:hasDbXref "MESH:D005611"^^xsd:string, "UMLS_CUI:C0016697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4671"^^xsd:string ; a owl:Class ; rdfs:label "freemartinism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_4674 obo:IAO_0000115 "A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4672"^^xsd:string ; oboInOwl:hasDbXref "GARD:5803"^^xsd:string, "ICD10CM:E34.5"^^xsd:string, "ICD9CM:259.51"^^xsd:string, "MESH:D013734"^^xsd:string, "NCI:C27226"^^xsd:string, "OMIM:300068"^^xsd:string, "ORDO:754"^^xsd:string, "SNOMEDCT_US_2021_03_01:12313004"^^xsd:string, "UMLS_CUI:C0039585"^^xsd:string ; oboInOwl:hasExactSynonym "Androgen resistance syndrome"@en, "Androgen-Insensitivity Syndrome"@en, "Feminisation - testicular"@en, "Goldberg - Maxwell syndrome"@en, "Goldberg-Maxwell syndrome"@en, "testicular Feminization syndrome"@en, "testicular feminization"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4674"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "androgen insensitivity syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 ; skos:narrowMatch "MESH:D013734"^^xsd:string . obo:DOID_4675 oboInOwl:hasDbXref "NCI:C27055"^^xsd:string, "SNOMEDCT_US_2021_03_01:11659006"^^xsd:string, "UMLS_CUI:C0268708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4675"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uremic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_4676 . obo:DOID_4676 oboInOwl:hasDbXref "ICD10CM:N19"^^xsd:string, "MESH:D014511"^^xsd:string, "SNOMEDCT_US_2021_03_01:44730006"^^xsd:string, "UMLS_CUI:C0041948"^^xsd:string ; oboInOwl:hasExactSynonym "UREMIA OF renal ORIGIN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4676"^^xsd:string ; a owl:Class ; rdfs:label "uremia"^^xsd:string ; rdfs:subClassOf obo:DOID_1074 . obo:DOID_4677 obo:IAO_0000115 "A corneal disease that is characterized by inflammation of the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16"^^xsd:string, "ICD9CM:370"^^xsd:string, "MESH:D007634"^^xsd:string, "NCI:C26805"^^xsd:string, "SNOMEDCT_US_2021_03_01:193757003"^^xsd:string, "UMLS_CUI:C0022568"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4677"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10124, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_4678 oboInOwl:hasDbXref "NCI:C6457"^^xsd:string, "UMLS_CUI:C1334814"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3277, obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_4679 obo:IAO_0000115 "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5166"^^xsd:string, "UMLS_CUI:C1334813"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mucoepidermoid carcinoma of breast"@en ; oboInOwl:id "DOID:4679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4680 . obo:DOID_468 oboInOwl:hasDbXref "MESH:D006391"^^xsd:string, "NCI:C3699"^^xsd:string, "SNOMEDCT_US_2021_03_01:54249004"^^xsd:string, "UMLS_CUI:C0205789"^^xsd:string ; oboInOwl:hasExactSynonym "Intramuscular Angioma"@en, "Intramuscular hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:468"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intramuscular hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_461, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] . obo:DOID_4680 obo:IAO_0000115 "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types."^^xsd:string ; oboInOwl:hasDbXref "GARD:10804"^^xsd:string, "NCI:C5164"^^xsd:string, "SNOMEDCT_US_2021_03_01:763479005"^^xsd:string, "UMLS_CUI:C1334708"^^xsd:string ; oboInOwl:hasExactSynonym "Metaplastic carcinoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "metaplastic carcinoma of breast"@en ; oboInOwl:id "DOID:4680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast metaplastic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_4681 oboInOwl:hasDbXref "NCI:C5862"^^xsd:string, "UMLS_CUI:C1332552"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4531, obo:DOID_4606, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_4682 oboInOwl:hasDbXref "NCI:C3860"^^xsd:string, "SNOMEDCT_US_2021_03_01:372101000"^^xsd:string, "UMLS_CUI:C0238019"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of extrahepatic bile duct"@en, "extrahepatic bile duct cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4682"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4897 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] ) ] . obo:DOID_4683 oboInOwl:hasDbXref "NCI:C4472"^^xsd:string, "SNOMEDCT_US_2021_03_01:254713002"^^xsd:string, "UMLS_CUI:C0346019"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of skin"@en, "Mucoepidermoid skin carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 . obo:DOID_4684 oboInOwl:hasExactSynonym "carcinoma of adnexa"@en, "skin appendage carcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4684"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin appendage carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4685 oboInOwl:hasDbXref "NCI:C6091"^^xsd:string, "UMLS_CUI:C1334359"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of the lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_294, obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_4686 oboInOwl:hasDbXref "NCI:C5343"^^xsd:string, "UMLS_CUI:C1333461"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4686"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucoepidermoid esophageal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1107 . obo:DOID_4687 obo:IAO_0000115 "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C38762"^^xsd:string, "UMLS_CUI:C1513721"^^xsd:string ; oboInOwl:hasExactSynonym "mucoepidermoid thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4687"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3963 . obo:DOID_4688 oboInOwl:hasDbXref "NCI:C9463"^^xsd:string, "UMLS_CUI:C1334373"^^xsd:string ; oboInOwl:hasExactSynonym "Mucoepidermoid carcinoma of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4688"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2596, obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] . obo:DOID_469 oboInOwl:hasDbXref "NCI:C6555"^^xsd:string, "UMLS_CUI:C1333265"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "deep angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4690 oboInOwl:hasDbXref "NCI:C5429"^^xsd:string, "UMLS_CUI:C1332981"^^xsd:string ; oboInOwl:hasExactSynonym "childhood mediastinal neurogenic tumour"@en, "paediatric neurogenic tumour of mediastinum"@en, "pediatric neurogenic tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4690"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood mediastinal neurogenic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4691, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4691 obo:IAO_0000115 "A mediastinal cancer that has_material_basis_in neural cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6624"^^xsd:string, "UMLS_CUI:C1334672"^^xsd:string ; oboInOwl:hasExactSynonym "neurogenic tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant mediastinal neurogenic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5559 . obo:DOID_4692 obo:IAO_0000115 "A globe disease that is characterized by inflammation of the inside of the eye."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009877"^^xsd:string, "NCI:C34586"^^xsd:string, "SNOMEDCT_US_2021_03_01:1847009"^^xsd:string, "UMLS_CUI:C0014236"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4692"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1242, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_4693 oboInOwl:hasDbXref "NCI:C5822"^^xsd:string, "UMLS_CUI:C1334945"^^xsd:string ; oboInOwl:hasExactSynonym "neural Plexus tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nerve plexus neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1192 . obo:DOID_4694 oboInOwl:hasExactSynonym "malignant tumor of PNS"@en, "malignant tumor of peripheral nerve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4694"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant peripheral nerve neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4696 oboInOwl:hasDbXref "GARD:10921"^^xsd:string, "NCI:C6911"^^xsd:string, "SNOMEDCT_US_2021_03_01:768934004"^^xsd:string, "UMLS_CUI:C1370658"^^xsd:string ; oboInOwl:hasExactSynonym "Intraneural Perineurioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4696"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraneural perineurioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4697 . obo:DOID_4697 oboInOwl:hasAlternativeId "DOID:8371"^^xsd:string ; oboInOwl:hasDbXref "GARD:12698"^^xsd:string, "MESH:D018317"^^xsd:string, "NCI:C4973"^^xsd:string, "NCI:C6912"^^xsd:string, "SNOMEDCT_US_2021_03_01:128795001"^^xsd:string, "UMLS_CUI:C0751691"^^xsd:string, "UMLS_CUI:C1370657"^^xsd:string ; oboInOwl:hasExactSynonym "soft tissue Perineurioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4697"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perineurioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3193 . obo:DOID_4698 oboInOwl:hasDbXref "NCI:C5119"^^xsd:string, "UMLS_CUI:C1334946"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of nerve Root"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nerve root neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1192 . obo:DOID_4699 oboInOwl:hasAlternativeId "DOID:14537"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5347"^^xsd:string, "SNOMEDCT_US_2021_03_01:126733004"^^xsd:string, "SNOMEDCT_US_2021_03_01:93782004"^^xsd:string, "UMLS_CUI:C0346610"^^xsd:string, "UMLS_CUI:C1290403"^^xsd:string ; oboInOwl:hasExactSynonym "Epicardial tumor"@en, "malignant Epicardial tumor"@en, "malignant neoplasm of epicardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epicardium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_116 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002348 ] ) ] . obo:DOID_47 oboInOwl:hasDbXref "ICD10CM:N42.9"^^xsd:string, "ICD9CM:602.9"^^xsd:string, "MESH:D011469"^^xsd:string, "NCI:C26865"^^xsd:string, "SNOMEDCT_US_2021_03_01:30281009"^^xsd:string, "UMLS_CUI:C0033575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:47"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate disease"^^xsd:string ; rdfs:subClassOf obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] ) ] . obo:DOID_470 oboInOwl:hasDbXref "NCI:C4299"^^xsd:string, "SNOMEDCT_US_2021_03_01:20985003"^^xsd:string, "UMLS_CUI:C0334540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:470"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "verrucous keratotic hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_471 . obo:DOID_4700 oboInOwl:hasExactSynonym "Congenital giant pigmented nevus of skin (disorder)"@en, "Giant Pigmented nevus of the skin"@en, "Intermediate and giant congenital naevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4700"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bathing trunk nevus"^^xsd:string ; owl:deprecated true . obo:DOID_4702 oboInOwl:hasDbXref "MESH:D049328"^^xsd:string, "NCI:C3945"^^xsd:string, "SNOMEDCT_US_2021_03_01:40467008"^^xsd:string, "UMLS_CUI:C0265985"^^xsd:string ; oboInOwl:hasExactSynonym "Mongolian Macula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4702"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mongolian spot"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_4705 oboInOwl:hasExactSynonym "pediatric neoplasm of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4705"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood brain tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4706 obo:IAO_0000115 "A brain cancer that is located_in the infratentorial region."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4789"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.7"^^xsd:string, "MESH:D015192"^^xsd:string, "NCI:C3139"^^xsd:string, "NCI:C4966"^^xsd:string, "UMLS_CUI:C0021432"^^xsd:string, "UMLS_CUI:C0751593"^^xsd:string ; oboInOwl:hasExactSynonym "brain neoplasm, Infratentorial"@en, "malignant Infratentorial tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4706"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infratentorial cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_4707 oboInOwl:hasDbXref "NCI:C5423"^^xsd:string, "UMLS_CUI:C1332923"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the Cervicomedullary Junction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4707"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervicomedullary junction neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4706 . obo:DOID_4708 oboInOwl:hasDbXref "NCI:C5280"^^xsd:string, "UMLS_CUI:C1333630"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Foramen Magnum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4708"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "foramen magnum meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_4437 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003687 ] ) ] . obo:DOID_471 oboInOwl:hasDbXref "NCI:C4905"^^xsd:string, "SNOMEDCT_US_2021_03_01:254773009"^^xsd:string, "UMLS_CUI:C0687140"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of the skin"@en, "Angiomatous naevus of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:471"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_4711 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4711"^^xsd:string ; a owl:Class ; rdfs:label "obsolete krebs 2 carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4712 oboInOwl:hasExactSynonym "mesenchymal tumor of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4712"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastric mesenchymal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4714 oboInOwl:hasAlternativeId "DOID:12829"^^xsd:string ; oboInOwl:hasExactSynonym "postpartum pelvic hematoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4714"^^xsd:string ; a owl:Class ; rdfs:label "obsolete obstetrical pelvic hematoma"^^xsd:string ; owl:deprecated true . obo:DOID_4715 oboInOwl:hasDbXref "NCI:C5696"^^xsd:string, "SNOMEDCT_US_2021_03_01:721194008"^^xsd:string, "UMLS_CUI:C1333783"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine tumor of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4715"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4148 . obo:DOID_4716 oboInOwl:hasAlternativeId "DOID:6949"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6448"^^xsd:string, "UMLS_CUI:C1333769"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell tumor of the stomach"@en, "germ cell tumour of the stomach"@en, "malignant gastric germ cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant gastric germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_4717 obo:IAO_0000115 "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5839"^^xsd:string ; oboInOwl:hasDbXref "NCI:C3918"^^xsd:string, "NCI:C8881"^^xsd:string, "UMLS_CUI:C0262963"^^xsd:string, "UMLS_CUI:C1334581"^^xsd:string ; oboInOwl:hasExactSynonym "extragonadal germ cell malignant tumor"@en, "neoplasm of Extragonadal germ cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "tumor of extragonadal germ cell"@en ; oboInOwl:id "DOID:4717"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extragonadal germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2994 . obo:DOID_4719 obo:IAO_0000115 "A malignant giant cell tumor that is composed_of multinucleated giant cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4304"^^xsd:string, "SNOMEDCT_US_2021_03_01:10069009"^^xsd:string, "UMLS_CUI:C0334552"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell sarcoma of the bone"@en, "Giant cell tumor of bone, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4719"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone giant cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2705 . obo:DOID_472 oboInOwl:hasDbXref "NCI:C6026"^^xsd:string, "UMLS_CUI:C1336518"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of the Subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottic angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036068 ] . obo:DOID_4723 obo:IAO_0000115 "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G96.81"^^xsd:string, "MESH:D019585"^^xsd:string, "SNOMEDCT_US_2021_03_01:433691000124104"^^xsd:string, "UMLS_CUI:C0524812"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4723"^^xsd:string ; a owl:Class ; rdfs:label "intracranial hypotension"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_4724 obo:IAO_0000115 "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001929"^^xsd:string, "SNOMEDCT_US_2021_03_01:85974009"^^xsd:string, "UMLS_CUI:C1527311"^^xsd:string ; oboInOwl:hasExactSynonym "intracranial swelling"@en, "wet brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4724"^^xsd:string ; a owl:Class ; rdfs:label "brain edema"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_4725 oboInOwl:hasExactSynonym "neck neoplasm"@en, "neck neoplasm (Including All Pharyngeal Related neoplasm)"@en, "neoplasm of neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4725"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neck neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4726 oboInOwl:hasExactSynonym "Anterior synechiae (disorder)"@en, "Anterior synechiae of iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4726"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Anterior synechiae"^^xsd:string ; owl:deprecated true . obo:DOID_4727 oboInOwl:hasExactSynonym "Synechia (iris)"@en, "Synechiae NOS"@en, "Unspecified adhesions of iris (disorder)"@en, "adhesions of iris (disorder)"@en, "adhesions of iris, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4727"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of iris"^^xsd:string ; owl:deprecated true . obo:DOID_4730 obo:IAO_0000115 "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J30.0"^^xsd:string, "MESH:D012223"^^xsd:string, "NCI:C34988"^^xsd:string, "SNOMEDCT_US_2021_03_01:155537009"^^xsd:string, "UMLS_CUI:C0035460"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4730"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vasomotor rhinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4483, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ] . obo:DOID_4731 obo:IAO_0000115 "A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012222"^^xsd:string, "SNOMEDCT_US_2021_03_01:28111002"^^xsd:string, "UMLS_CUI:C0035459"^^xsd:string ; oboInOwl:hasExactSynonym "Ozaena"@en, "Rhinitis, atrophic"@en, "dry rhinitis"@en, "ozena"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "rhinitis sicca"@en ; oboInOwl:id "DOID:4731"^^xsd:string ; a owl:Class ; rdfs:label "atrophic rhinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4483 . obo:DOID_4734 oboInOwl:hasDbXref "GARD:5980"^^xsd:string, "MESH:D002115"^^xsd:string, "NCI:C84607"^^xsd:string, "SNOMEDCT_US_2021_03_01:237900002"^^xsd:string, "UMLS_CUI:C0006666"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4734"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "calciphylaxis"^^xsd:string ; rdfs:subClassOf obo:DOID_182 . obo:DOID_4737 obo:IAO_0000115 "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10133"^^xsd:string, "DOID:144"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F45"^^xsd:string, "ICD10CM:F45.0"^^xsd:string, "ICD9CM:300.8"^^xsd:string, "ICD9CM:300.81"^^xsd:string, "MESH:D013001"^^xsd:string, "NCI:C34956"^^xsd:string, "SNOMEDCT_US_2021_03_01:192430009"^^xsd:string, "SNOMEDCT_US_2021_03_01:60368009"^^xsd:string, "UMLS_CUI:C0037650"^^xsd:string, "UMLS_CUI:C0520482"^^xsd:string ; oboInOwl:hasExactSynonym "physiological malfunction arising from mental factor"@en, "psychophysiologic disorder"@en, "psychosomatic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4737"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "somatoform disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_4738 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4738"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iris or ciliary body disorder"^^xsd:string ; owl:deprecated true . obo:DOID_4739 obo:IAO_0000115 "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39953"^^xsd:string, "UMLS_CUI:C1515281"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4739"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular Brenner tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_474 oboInOwl:hasDbXref "MESH:D006391"^^xsd:string, "NCI:C4298"^^xsd:string, "SNOMEDCT_US_2021_03_01:253054009"^^xsd:string, "UMLS_CUI:C0205788"^^xsd:string ; oboInOwl:hasExactSynonym "Angiolymphoid hyperplasia with eosinophilia"@en, "epithelioid haemangioma"@en, "epithelioid hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:474"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "histiocytoid hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4742 oboInOwl:hasExactSynonym "mixed Embryonal carcinoma and teratoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4742"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and teratoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_4743 obo:IAO_0000115 "A mixed germ cell cancer that is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6347"^^xsd:string, "UMLS_CUI:C1336720"^^xsd:string ; oboInOwl:hasExactSynonym "mixed germ cell tumor of testis"@en, "mixed germ cell tumour of testis"@en, "mixed testicular germ cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4743"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed testicular germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5556 . obo:DOID_4744 obo:IAO_0000115 "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O43.21"^^xsd:string, "MESH:D010921"^^xsd:string, "NCI:C26856"^^xsd:string, "SNOMEDCT_US_2021_03_01:70129008"^^xsd:string, "UMLS_CUI:C0032044"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4744"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placenta accreta"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_4746 oboInOwl:hasExactSynonym "disorder of smell (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4746"^^xsd:string ; a owl:Class ; rdfs:label "obsolete olfaction disorder"^^xsd:string ; owl:deprecated true . obo:DOID_4748 oboInOwl:hasExactSynonym "pediatric Supratentorial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4748"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood supratentorial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4749 oboInOwl:hasDbXref "NCI:C5586"^^xsd:string, "UMLS_CUI:C1334757"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the middle Cranial Fossa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4749"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle cranial fossa meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003722 ] ) ] . obo:DOID_4751 oboInOwl:hasDbXref "ICD10CM:G23.2"^^xsd:string, "MESH:D020955"^^xsd:string, "NCI:C125695"^^xsd:string, "OMIM:271930"^^xsd:string, "OMIM:500003"^^xsd:string, "OMIM:609161"^^xsd:string, "SNOMEDCT_US_2021_03_01:29618004"^^xsd:string, "UMLS_CUI:C0270733"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4751"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "striatonigral degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_4752 . obo:DOID_4752 oboInOwl:hasAlternativeId "DOID:11510"^^xsd:string ; oboInOwl:hasDbXref "GARD:7079"^^xsd:string, "MESH:D012791"^^xsd:string, "MESH:D019578"^^xsd:string, "NCI:C84909"^^xsd:string, "SNOMEDCT_US_2021_03_01:16576004"^^xsd:string, "SNOMEDCT_US_2021_03_01:230297002"^^xsd:string, "UMLS_CUI:C0037019"^^xsd:string, "UMLS_CUI:C0393571"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple system atrophy"@en, "Shy-Drager syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "multiple system atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050890 . obo:DOID_4754 obo:IAO_0000115 "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Dictyocaulus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4754"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Dictyocaulus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4756 oboInOwl:hasAlternativeId "DOID:6021"^^xsd:string ; oboInOwl:hasDbXref "NCI:C39942"^^xsd:string, "NCI:C6356"^^xsd:string, "SNOMEDCT_US_2021_03_01:67871000119105"^^xsd:string, "UMLS_CUI:C0863027"^^xsd:string, "UMLS_CUI:C1515288"^^xsd:string ; oboInOwl:hasExactSynonym "testicular Leydig cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular Leydig cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4757 . obo:DOID_4757 obo:IAO_0000115 "A sex cord-gonadal stromal tumor that is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39948"^^xsd:string, "UMLS_CUI:C1515289"^^xsd:string ; oboInOwl:hasExactSynonym "Sex Cord-Stromal tumor of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular sex cord-stromal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_192 . obo:DOID_4758 oboInOwl:hasExactSynonym "Goniosynechiae"@en, "Goniosynechiae (disorder)"@en, "peripheral anterior synechiae (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4758"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral anterior synechiae"^^xsd:string ; owl:deprecated true . obo:DOID_476 obo:IAO_0000115 "A breast benign neoplasm that is characterized by a collection of excess blood vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5353"^^xsd:string, "UMLS_CUI:C0853715"^^xsd:string ; oboInOwl:hasExactSynonym "Angioma of the breast"@en, "hemangioma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_4760 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge."^^xsd:string ; oboInOwl:hasExactSynonym "Gangrenous Coryza"@en, "Snotsiekte"@en, "malignant catarrhal fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4760"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant catarrh"^^xsd:string ; owl:deprecated true . obo:DOID_4762 oboInOwl:hasDbXref "MESH:D018783"^^xsd:string, "UMLS_CUI:C0243000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4762"^^xsd:string ; a owl:Class ; rdfs:label "vasculogenic impotence"^^xsd:string ; rdfs:subClassOf obo:DOID_1875 . obo:DOID_4765 obo:IAO_0000115 "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018202"^^xsd:string, "NCI:C3732"^^xsd:string, "SNOMEDCT_US_2021_03_01:189815007"^^xsd:string, "UMLS_CUI:C0206629"^^xsd:string ; oboInOwl:hasExactSynonym "Blastoma of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4765"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0070003, obo:DOID_1324, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000055 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_4766 obo:IAO_0000115 "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8997"^^xsd:string, "SNOMEDCT_US_2021_03_01:86049000"^^xsd:string, "UMLS_CUI:C0936282"^^xsd:string ; oboInOwl:hasExactSynonym "Blastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryoma"^^xsd:string ; rdfs:subClassOf obo:DOID_688 . obo:DOID_4767 oboInOwl:hasDbXref "NCI:C36054"^^xsd:string, "UMLS_CUI:C1332556"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4767"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "classic pulmonary blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4765 . obo:DOID_4768 oboInOwl:hasDbXref "NCI:C36053"^^xsd:string, "UMLS_CUI:C1333420"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4768"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelial predominant pulmonary blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4765 . obo:DOID_4769 obo:IAO_0000115 "A pulmonary blastoma that derives_from the lung or pleural cavity."^^xsd:string ; oboInOwl:hasDbXref "GARD:8757"^^xsd:string, "MESH:C537516"^^xsd:string, "NCI:C5669"^^xsd:string, "OMIM:601200"^^xsd:string, "SNOMEDCT_US_2021_03_01:707670009"^^xsd:string, "UMLS_CUI:C1266144"^^xsd:string ; oboInOwl:hasExactSynonym "Pleuropulmonary blastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4769"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pleuropulmonary blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4765 . obo:DOID_4772 obo:IAO_0000115 "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4772"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesoblastic nephroma"^^xsd:string ; owl:deprecated true . obo:DOID_4773 obo:IAO_0000115 "A kidney cancer that is characterized by the presence of fibroblastic cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4772"^^xsd:string ; oboInOwl:hasDbXref "GARD:1493"^^xsd:string, "MESH:D018201"^^xsd:string, "NCI:C6569"^^xsd:string, "UMLS_CUI:C1332965"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4773"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital mesoblastic nephroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_263, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_4775 obo:IAO_0000115 "A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4775"^^xsd:string ; a owl:Class ; rdfs:label "obsolete feline acquired immunodeficiency syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_4776 oboInOwl:hasDbXref "ICD10CM:N01"^^xsd:string, "NCI:C35264"^^xsd:string, "SNOMEDCT_US_2021_03_01:45406000"^^xsd:string, "UMLS_CUI:C0221239"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4776"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rapidly progressive glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4777 oboInOwl:hasDbXref "NCI:C35706"^^xsd:string, "UMLS_CUI:C0546345"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4777"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exudative glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4778 oboInOwl:hasDbXref "NCI:C35281"^^xsd:string, "SNOMEDCT_US_2021_03_01:441815006"^^xsd:string, "UMLS_CUI:C0235618"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4778"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proliferative glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4779 oboInOwl:hasDbXref "NCI:C35707"^^xsd:string, "UMLS_CUI:C0238143"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4779"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "focal embolic glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_478 oboInOwl:hasExactSynonym "vascular tumor of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:478"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast vascular neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4780 obo:IAO_0000115 "A Goodpasture syndrome that is characterized by damage to only kidney capillaries."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35798"^^xsd:string, "UMLS_CUI:C1332309"^^xsd:string ; oboInOwl:hasExactSynonym "anti-GBM glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4780"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anti-basement membrane glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_9808 . obo:DOID_4781 oboInOwl:hasDbXref "NCI:C35799"^^xsd:string, "UMLS_CUI:C0859036"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4781"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4782 oboInOwl:hasDbXref "NCI:C35801"^^xsd:string, "SNOMEDCT_US_2021_03_01:123609007"^^xsd:string, "UMLS_CUI:C1263744"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subacute glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4783 oboInOwl:hasDbXref "GARD:9580"^^xsd:string, "NCI:C35445"^^xsd:string, "SNOMEDCT_US_2021_03_01:35546006"^^xsd:string, "UMLS_CUI:C0221238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4783"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesangial proliferative glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4784 oboInOwl:hasDbXref "NCI:C35800"^^xsd:string, "SNOMEDCT_US_2021_03_01:123752003"^^xsd:string, "UMLS_CUI:C0744421"^^xsd:string ; oboInOwl:hasExactSynonym "Immune Complex Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4784"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "immune-complex glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_4786 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4786"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primitive neuroectodermal tumor with Leptomeningeal Spread"^^xsd:string ; owl:deprecated true . obo:DOID_4787 oboInOwl:hasDbXref "NCI:C5436"^^xsd:string, "UMLS_CUI:C1332904"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellopontine Angle PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4787"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellopontine angle primitive neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3200 . obo:DOID_4788 oboInOwl:hasDbXref "NCI:C5817"^^xsd:string, "UMLS_CUI:C1334246"^^xsd:string ; oboInOwl:hasExactSynonym "intracranial PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4788"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial primitive neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060103 . obo:DOID_479 oboInOwl:hasAlternativeId "DOID:665"^^xsd:string ; oboInOwl:hasDbXref "MESH:D000794"^^xsd:string, "NCI:C2874"^^xsd:string, "NCI:C4488"^^xsd:string, "SNOMEDCT_US_2021_03_01:254788004"^^xsd:string, "SNOMEDCT_US_2021_03_01:26810009"^^xsd:string, "UMLS_CUI:C0002985"^^xsd:string, "UMLS_CUI:C0346075"^^xsd:string ; oboInOwl:hasExactSynonym "Angiokeratoma"@en, "Angiokeratoma of skin"@en, "Cutaneous Angiokeratoma"@en, "skin angiokeratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:479"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiokeratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_471 . obo:DOID_4790 oboInOwl:hasDbXref "MESH:D018242"^^xsd:string, "NCI:C4327"^^xsd:string, "SNOMEDCT_US_2021_03_01:715903004"^^xsd:string, "UMLS_CUI:C0334596"^^xsd:string ; oboInOwl:hasExactSynonym "Diktyoma, malignant"@en, "Medulloepithelioma"@en, "Medulloepithelioma, central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4790"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "medulloepithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060103 . obo:DOID_4791 oboInOwl:hasDbXref "GARD:7366"^^xsd:string, "NCI:C6968"^^xsd:string, "SNOMEDCT_US_2021_03_01:699318007"^^xsd:string, "UMLS_CUI:C1336538"^^xsd:string ; oboInOwl:hasExactSynonym "Supratentorial PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supratentorial primitive neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1659 . obo:DOID_4794 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4794"^^xsd:string ; a owl:Class ; rdfs:label "obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered"^^xsd:string ; owl:deprecated true . obo:DOID_4795 obo:IAO_0000115 "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."^^xsd:string ; oboInOwl:hasDbXref "MESH:D049290"^^xsd:string, "NCI:C133084"^^xsd:string, "OMIM:272750"^^xsd:string, "SNOMEDCT_US_2021_03_01:71253000"^^xsd:string, "UMLS_CUI:C0268275"^^xsd:string ; oboInOwl:hasExactSynonym "Tay-Sachs disease AB variant"@en, "Tay-Sachs disease, variant AB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4795"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "GM2 gangliosidosis, AB variant"^^xsd:string ; rdfs:subClassOf obo:DOID_3321 . obo:DOID_4796 oboInOwl:hasDbXref "MESH:D018489"^^xsd:string, "SNOMEDCT_US_2021_03_01:21162009"^^xsd:string, "UMLS_CUI:C0242700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4796"^^xsd:string ; a owl:Class ; rdfs:label "space motion sickness"^^xsd:string ; rdfs:subClassOf obo:DOID_2951 . obo:DOID_4797 oboInOwl:hasDbXref "NCI:C9284"^^xsd:string, "SNOMEDCT_US_2021_03_01:397357000"^^xsd:string, "UMLS_CUI:C1301365"^^xsd:string ; oboInOwl:hasExactSynonym "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease"@en, "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4797"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "SM-AHNMD"^^xsd:string ; rdfs:subClassOf obo:DOID_349 . obo:DOID_4798 oboInOwl:hasDbXref "ICD10CM:C96.21"^^xsd:string, "MESH:D034721"^^xsd:string, "NCI:C9285"^^xsd:string, "SNOMEDCT_US_2021_03_01:716655008"^^xsd:string, "UMLS_CUI:C1112486"^^xsd:string ; oboInOwl:hasExactSynonym "ASM"@en, "Aggressive systemic mastocytosis"@en, "Lymphadenopathic mastocytosis with eosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4798"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aggressive systemic mastocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_349 . obo:DOID_4799 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4799"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related idiopathic thrombocytopenic purpura"^^xsd:string ; owl:deprecated true . obo:DOID_48 obo:IAO_0000115 "A reproductive system disease that affects male reproductive organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N50.9"^^xsd:string, "ICD9CM:608.9"^^xsd:string, "MESH:D005832"^^xsd:string, "SNOMEDCT_US_2021_03_01:64557000"^^xsd:string, "UMLS_CUI:C0017412"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:48"^^xsd:string ; a owl:Class ; rdfs:label "male reproductive system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_15 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ] ) ] . obo:DOID_480 obo:IAO_0000115 "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009069"^^xsd:string, "NCI:C116757"^^xsd:string, "SNOMEDCT_US_2021_03_01:60342002"^^xsd:string, "UMLS_CUI:C0026650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "movement disease"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_4800 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4800"^^xsd:string ; a owl:Class ; rdfs:label "obsolete iris vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_4804 obo:IAO_0000115 "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation."^^xsd:string ; oboInOwl:hasExactSynonym "hairy shaker disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4804"^^xsd:string ; a owl:Class ; rdfs:label "obsolete border disease"^^xsd:string ; owl:deprecated true . obo:DOID_4807 obo:IAO_0000115 "An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4807"^^xsd:string ; a owl:Class ; rdfs:label "obsolete swine vesicular disease"^^xsd:string ; owl:deprecated true . obo:DOID_4808 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4808"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enterovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4809 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice."^^xsd:string ; oboInOwl:hasExactSynonym "Poliomyelitis Suum"@en, "Porcine polioencephalomyelitis"@en, "Talfan disease"@en, "Teschen disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4809"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enzootic porcine encephalomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_481 oboInOwl:hasDbXref "UMLS_CUI:C0014887"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:481"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system hereditary degenerative disease"^^xsd:string ; owl:deprecated true . obo:DOID_4810 obo:IAO_0000115 "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma."^^xsd:string ; oboInOwl:hasDbXref "GARD:5622"^^xsd:string, "MESH:D019294"^^xsd:string, "NCI:C84628"^^xsd:string, "OMIM:213700"^^xsd:string, "SNOMEDCT_US_2021_03_01:63246000"^^xsd:string, "UMLS_CUI:C0238052"^^xsd:string ; oboInOwl:hasExactSynonym "Cholestanol storage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4810"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cerebrotendinous xanthomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3345 . obo:DOID_4812 oboInOwl:hasDbXref "NCI:C9370"^^xsd:string, "UMLS_CUI:C1377914"^^xsd:string ; oboInOwl:hasExactSynonym "adult brain stem Gliosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult brainstem gliosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4813, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_4813 obo:IAO_0000115 "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9091"^^xsd:string, "UMLS_CUI:C0278873"^^xsd:string ; oboInOwl:hasExactSynonym "adult Brainstem Neuroglial tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult brain stem glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4202, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_4814 oboInOwl:hasExactSynonym "Ganglioneuroma of Retroperitoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4814"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ganglioneuroma of the retroperitoneum"^^xsd:string ; owl:deprecated true . obo:DOID_4816 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4816"^^xsd:string ; a owl:Class ; rdfs:label "obsolete maturing ganglioneuroma"^^xsd:string ; owl:deprecated true . obo:DOID_4817 obo:IAO_0000115 "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005729"^^xsd:string, "NCI:C3049"^^xsd:string, "NCI:C42065"^^xsd:string, "SNOMEDCT_US_2021_03_01:189929007"^^xsd:string, "UMLS_CUI:C0017075"^^xsd:string, "UMLS_CUI:C1513025"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ganglioneuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080321 . obo:DOID_4818 oboInOwl:hasExactSynonym "Occult Non-small cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "occult non-small cell carcinoma of lung"@en ; oboInOwl:id "DOID:4818"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung occult non-small cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4819 oboInOwl:hasExactSynonym "Occult carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "occult carcinoma of lung"@en ; oboInOwl:id "DOID:4819"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung occult carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_482 oboInOwl:hasDbXref "NCI:C27507"^^xsd:string, "UMLS_CUI:C1333956"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioma of peripheral nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_0080320, obo:DOID_255, obo:DOID_574, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_4828 oboInOwl:hasExactSynonym "Unspecified stage IV carcinoma of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4828"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic lung carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4829 obo:IAO_0000115 "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9133"^^xsd:string, "UMLS_CUI:C0279557"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4829"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous lung carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1324, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_483 oboInOwl:hasDbXref "ICD10CM:D18.0"^^xsd:string, "MESH:D006392"^^xsd:string, "NCI:C3086"^^xsd:string, "SNOMEDCT_US_2021_03_01:67668002"^^xsd:string, "UMLS_CUI:C0018920"^^xsd:string ; oboInOwl:hasExactSynonym "Cavernoma"@en, "Cavernous haemangioma"@en, "Cavernous hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:483"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cavernous hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_484 . obo:DOID_4830 obo:IAO_0000115 "A squamous cell carcinoma that contains squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018196"^^xsd:string, "NCI:C3727"^^xsd:string, "SNOMEDCT_US_2021_03_01:403902008"^^xsd:string, "UMLS_CUI:C0206623"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma"@en, "Adenosquamous cell carcinoma"@en, "mixed adenocarcinoma and squamous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4830"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000151 ] ) ] ) ] . obo:DOID_4831 oboInOwl:hasExactSynonym "Mast cell malignancy of spleen (disorder)"@en, "malignant mast cell tumors involving spleen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4831"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spleen mast cell malignancy"^^xsd:string ; owl:deprecated true . obo:DOID_4832 oboInOwl:hasExactSynonym "recurrent NSCLC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4832"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non small cell lung cancer recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_4833 oboInOwl:hasExactSynonym "relapsed Unspecified carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4833"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent lung carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4837 obo:IAO_0000115 "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones."^^xsd:string ; oboInOwl:hasDbXref "GARD:6542"^^xsd:string, "MESH:D010015"^^xsd:string, "SNOMEDCT_US_2021_03_01:240161003"^^xsd:string, "UMLS_CUI:C0029436"^^xsd:string ; oboInOwl:hasExactSynonym "Disappearing bone disease"@en, "Gorham disease"@en, "essential osteolysis"@en, "massive osteolysis"@en, "phantom bone disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Gorham-Stout Syndrome"@en ; oboInOwl:id "DOID:4837"^^xsd:string ; a owl:Class ; rdfs:label "Gorham's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002797 ] . obo:DOID_4838 obo:IAO_0000115 "A carcinoma that derives_from myoepithelial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10558"^^xsd:string, "NCI:C7596"^^xsd:string, "SNOMEDCT_US_2021_03_01:24292006"^^xsd:string, "UMLS_CUI:C0334699"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myoepithelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000185 ] . obo:DOID_4839 oboInOwl:hasDbXref "MESH:D018266"^^xsd:string, "NCI:C40310"^^xsd:string, "SNOMEDCT_US_2021_03_01:54734006"^^xsd:string, "UMLS_CUI:C0206684"^^xsd:string ; oboInOwl:hasExactSynonym "Sebaceous carcinoma"@en, "adenocarcinoma of the Sebaceous gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4839"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sebaceous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4840 . obo:DOID_484 oboInOwl:hasDbXref "MESH:D020141"^^xsd:string, "SNOMEDCT_US_2021_03_01:21112004"^^xsd:string, "UMLS_CUI:C0600502"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:484"^^xsd:string ; a owl:Class ; rdfs:label "vascular hemostatic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2213 . obo:DOID_4840 oboInOwl:hasDbXref "ICD10CM:C44"^^xsd:string, "NCI:C8409"^^xsd:string, "SNOMEDCT_US_2021_03_01:188083002"^^xsd:string, "UMLS_CUI:C1382026"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Sebaceous tumor"@en, "malignant neoplasm of sebaceous gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sebaceous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4159, obo:DOID_9098, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001821 ] ) ] . obo:DOID_4841 oboInOwl:hasExactSynonym "malignant skin Appendage neoplasm"@en, "malignant tumor of epidermal appendage (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4841"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant tumor of epidermal appendage"^^xsd:string ; owl:deprecated true . obo:DOID_4843 oboInOwl:hasDbXref "MESH:D018315"^^xsd:string, "NCI:C3795"^^xsd:string, "SNOMEDCT_US_2021_03_01:4553004"^^xsd:string, "UMLS_CUI:C0206725"^^xsd:string ; oboInOwl:hasExactSynonym "Subependymal astrocytoma"@en, "WHO grade I Ependymal tumor"@en, "mixed subependymoma-ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subependymal glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_4844 oboInOwl:hasDbXref "MESH:D004806"^^xsd:string, "NCI:C3017"^^xsd:string, "SNOMEDCT_US_2021_03_01:443643007"^^xsd:string, "UMLS_CUI:C0014474"^^xsd:string ; oboInOwl:hasExactSynonym "WHO grade II Ependymal tumor"@en, "epithelial ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080829, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004670 ] . obo:DOID_4845 obo:IAO_0000115 "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40315"^^xsd:string, "SNOMEDCT_US_2021_03_01:388600004"^^xsd:string, "UMLS_CUI:C1519086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4845"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pilomyxoid astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4851, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_4846 oboInOwl:hasDbXref "NCI:C5408"^^xsd:string, "UMLS_CUI:C1334254"^^xsd:string ; oboInOwl:hasExactSynonym "Intradural Extramedullary Astrocytic tumor of the Cauda Equina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4846"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cauda equina intradural extramedullary astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4847 . obo:DOID_4847 oboInOwl:hasDbXref "NCI:C5479"^^xsd:string, "SNOMEDCT_US_2021_03_01:126963001"^^xsd:string, "UMLS_CUI:C1263892"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the Cauda Equina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4847"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cauda equina neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_4848 oboInOwl:hasDbXref "NCI:C9475"^^xsd:string, "UMLS_CUI:C0740480"^^xsd:string ; oboInOwl:hasExactSynonym "astrocytoma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellar astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_4205, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_4850 oboInOwl:hasExactSynonym "glioma of the optic tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4850"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glioma of visual pathway"^^xsd:string ; owl:deprecated true . obo:DOID_4851 obo:IAO_0000115 "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:9808"^^xsd:string, "ICDO:9421/1"^^xsd:string, "MESH:D001254"^^xsd:string, "NCI:C4047"^^xsd:string, "SNOMEDCT_US_2021_03_01:67859002"^^xsd:string, "UMLS_CUI:C0334583"^^xsd:string ; oboInOwl:hasExactSynonym "Piloid astrocytoma"@en, "grade I Astrocytic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4851"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pilocytic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080830, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_4852 obo:IAO_0000115 "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4323"^^xsd:string, "SNOMEDCT_US_2021_03_01:189924002"^^xsd:string, "UMLS_CUI:C0334586"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic Xantho-astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4852"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic xanthoastrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080829 . obo:DOID_4853 oboInOwl:hasDbXref "NCI:C6809"^^xsd:string, "SNOMEDCT_US_2021_03_01:277507004"^^xsd:string, "UMLS_CUI:C0349620"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellar Pilocytic astrocytoma"@en, "Pilocytic astrocytoma of cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4853"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pilocytic astrocytoma of cerebellum"^^xsd:string ; rdfs:subClassOf obo:DOID_4848 . obo:DOID_4855 oboInOwl:hasDbXref "NCI:C5128"^^xsd:string, "UMLS_CUI:C1333284"^^xsd:string ; oboInOwl:hasExactSynonym "astrocytoma of Diencephalon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4855"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diencephalic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_3843, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001894 ] . obo:DOID_4856 oboInOwl:hasDbXref "NCI:C5419"^^xsd:string, "SNOMEDCT_US_2021_03_01:128909006"^^xsd:string, "UMLS_CUI:C1266178"^^xsd:string ; oboInOwl:hasExactSynonym "Gliofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gliofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_4857 obo:IAO_0000115 "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7173"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse astrocytoma, low grade"@en, "WHO grade II astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4857"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080829 . obo:DOID_4858 oboInOwl:hasDbXref "NCI:C8274"^^xsd:string, "UMLS_CUI:C0280795"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal Astrocytic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4858"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal gland astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_5032, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001905 ] . obo:DOID_486 oboInOwl:hasDbXref "NCI:C27505"^^xsd:string, "SNOMEDCT_US_2021_03_01:403976007"^^xsd:string, "UMLS_CUI:C1304511"^^xsd:string ; oboInOwl:hasExactSynonym "Glomeruloid hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomeruloid hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4860 obo:IAO_0000115 "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7445"^^xsd:string, "SNOMEDCT_US_2021_03_01:107581000119103"^^xsd:string, "UMLS_CUI:C1332608"^^xsd:string ; oboInOwl:hasExactSynonym "Brainstem astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4860"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain stem astrocytic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4202 . obo:DOID_4863 oboInOwl:hasDbXref "NCI:C4641"^^xsd:string, "SNOMEDCT_US_2021_03_01:254948003"^^xsd:string, "UMLS_CUI:C0349540"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal astrocytoma"@en, "astrocytoma of spinal cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4863"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3185 . obo:DOID_4864 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method."^^xsd:string ; oboInOwl:hasExactSynonym "Rubivirus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4864"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4865 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4865"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Togaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4866 obo:IAO_0000115 "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003528"^^xsd:string, "NCI:C2970"^^xsd:string, "SNOMEDCT_US_2021_03_01:11671000"^^xsd:string, "UMLS_CUI:C0010606"^^xsd:string ; oboInOwl:hasExactSynonym "Cylindroma"@en, "adenoid cystic cancer"@en, "adenoid cystic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4866"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "salivary gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050904 . obo:DOID_4867 obo:IAO_0000115 "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6346"^^xsd:string, "SNOMEDCT_US_2021_03_01:763064007"^^xsd:string, "UMLS_CUI:C1332911"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4867"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893 . obo:DOID_4868 oboInOwl:hasDbXref "NCI:C5539"^^xsd:string, "UMLS_CUI:C1335502"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of prostate"@en ; oboInOwl:id "DOID:4868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10286 . obo:DOID_4869 oboInOwl:hasDbXref "NCI:C9462"^^xsd:string, "UMLS_CUI:C1334368"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4869"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2600 . obo:DOID_4870 oboInOwl:hasDbXref "NCI:C4540"^^xsd:string, "SNOMEDCT_US_2021_03_01:254987003"^^xsd:string, "UMLS_CUI:C0346340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of lacrimal gland"@en ; oboInOwl:id "DOID:4870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_298 . obo:DOID_4871 oboInOwl:hasDbXref "NCI:C4471"^^xsd:string, "SNOMEDCT_US_2021_03_01:399968001"^^xsd:string, "UMLS_CUI:C0346017"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the skin"@en, "adenoid cystic eccrine carcinoma"@en, "adenoid cystic eccrine carcinoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4871"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous adenocystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 . obo:DOID_4872 oboInOwl:hasDbXref "NCI:C5666"^^xsd:string, "UMLS_CUI:C1334439"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary adenoid cystic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of lung"@en ; oboInOwl:id "DOID:4872"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_4873 oboInOwl:hasDbXref "ICD9CM:335"^^xsd:string, "MESH:D016472"^^xsd:string, "SNOMEDCT_US_2021_03_01:267693003"^^xsd:string, "UMLS_CUI:C0154681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4873"^^xsd:string ; a owl:Class ; rdfs:label "anterior horn cell disease"^^xsd:string ; rdfs:subClassOf obo:DOID_12377 . obo:DOID_4875 oboInOwl:hasDbXref "NCI:C6051"^^xsd:string, "SNOMEDCT_US_2021_03_01:254619006"^^xsd:string, "UMLS_CUI:C0345945"^^xsd:string ; oboInOwl:hasExactSynonym "Tracheal adenoid cystic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4875"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4876 . obo:DOID_4876 obo:IAO_0000115 "A tracheal cancer that effects the airway that leads from the larynx to the bronchi."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:154486000"^^xsd:string, "UMLS_CUI:C0848879"^^xsd:string ; oboInOwl:hasExactSynonym "Pancoast's tumor"@en, "Trachea carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of the trachea"@en ; oboInOwl:id "DOID:4876"^^xsd:string ; a owl:Class ; rdfs:label "trachea carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11920, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_4877 obo:IAO_0000115 "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5130"^^xsd:string, "UMLS_CUI:C1332167"^^xsd:string ; oboInOwl:hasExactSynonym "Mammary Adenocystic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of breast"@en ; oboInOwl:id "DOID:4877"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_4878 obo:IAO_0000115 "An esophageal carcinoma that derives_from epithelial cells of the salivary gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5342"^^xsd:string, "UMLS_CUI:C1333441"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma, esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4878"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1107 . obo:DOID_4879 obo:IAO_0000115 "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40295"^^xsd:string, "UMLS_CUI:C1511047"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland adenoid cystic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4879"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3999 . obo:DOID_488 oboInOwl:hasExactSynonym "bone vascular neoplasm"@en, "osseous vascular tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:488"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant bone vascular tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4880 obo:IAO_0000115 "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7745"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4264"^^xsd:string, "ORDO:457246"^^xsd:string, "SNOMEDCT_US_2021_03_01:24007003"^^xsd:string, "UMLS_CUI:C0334488"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell sarcoma of kidney"@en, "childhood kidney clear cell sarcoma"@en, "renal Clear cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4880"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney clear cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4242 . obo:DOID_4882 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4882"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric soft part clear cell sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4884 oboInOwl:hasExactSynonym "neoplasm of peritoneum (disorder)"@en, "peritoneal neoplasm"@en, "peritoneum neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4884"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peritoneal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4885 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A93.2"^^xsd:string, "MESH:D003121"^^xsd:string, "SNOMEDCT_US_2021_03_01:186607005"^^xsd:string, "UMLS_CUI:C0009400"^^xsd:string ; oboInOwl:hasExactSynonym "Tick fever, American mountain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4885"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Colorado tick fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_46839 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34620 ] . obo:DOID_4887 obo:IAO_0000115 "A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4887"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rotavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4889 obo:IAO_0000115 "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4888"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.2"^^xsd:string, "MESH:D014388"^^xsd:string, "MESH:D018601"^^xsd:string, "NCI:C26896"^^xsd:string, "SNOMEDCT_US_2021_03_01:10893003"^^xsd:string, "UMLS_CUI:C0041316"^^xsd:string, "UMLS_CUI:C0242830"^^xsd:string ; oboInOwl:hasExactSynonym "Lymph Node Tuberculosis"@en, "Tuberculous adenitis"@en, "Tuberculous lymphadenopathy"@en, "king's evil"@en, "scrofula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4889"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "lymph node tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_9942, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] . obo:DOID_4890 obo:IAO_0000115 "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050326"^^xsd:string ; oboInOwl:hasDbXref "GARD:6808"^^xsd:string, "MESH:D020190"^^xsd:string, "NCI:C84796"^^xsd:string, "OMIM:254770"^^xsd:string, "ORDO:307"^^xsd:string, "ORDO:862"^^xsd:string, "SNOMEDCT_US_2021_03_01:6204001"^^xsd:string, "UMLS_CUI:C0270853"^^xsd:string ; oboInOwl:hasNarrowSynonym "Janz syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4890"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "juvenile myoclonic epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001336 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_4892 obo:IAO_0000115 "A middle ear carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6848"^^xsd:string, "UMLS_CUI:C1334758"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of middle ear"@en ; oboInOwl:id "DOID:4892"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4893, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4893 obo:IAO_0000115 "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6089"^^xsd:string, "UMLS_CUI:C1334760"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of middle ear"@en ; oboInOwl:id "DOID:4893"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5099, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] . obo:DOID_4894 obo:IAO_0000115 "An ovary adenocarcinoma that arises from the rete ovarii."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40017"^^xsd:string, "SNOMEDCT_US_2021_03_01:703655009"^^xsd:string, "UMLS_CUI:C3840223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4894"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete ovarii adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010185 ] . obo:DOID_4895 obo:IAO_0000115 "A female reporoductive organ benign neoplasm that is located_in the rete ovarii."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40016"^^xsd:string, "UMLS_CUI:C1514909"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4895"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete ovarii benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010185 ] ) ] . obo:DOID_4896 obo:IAO_0000115 "A bile duct carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27813"^^xsd:string, "SNOMEDCT_US_2021_03_01:70179006"^^xsd:string, "UMLS_CUI:C1370800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4896"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4897, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4897 obo:IAO_0000115 "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001650"^^xsd:string, "NCI:C27814"^^xsd:string, "SNOMEDCT_US_2021_03_01:70179006"^^xsd:string, "UMLS_CUI:C0740277"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4897"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4606, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4898 oboInOwl:hasExactSynonym "adenocarcinoma in adenomatous polyp"@en, "adenocarcinoma in adenomatous polyp (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4898"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenocarcinoma in a polyp"^^xsd:string ; owl:deprecated true . obo:DOID_490 oboInOwl:hasExactSynonym "pulmonary hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:490"^^xsd:string ; a owl:Class ; rdfs:label "hemangioma of lung"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_4900 oboInOwl:hasExactSynonym "mixed cell adenocarcinoma"@en, "mixed cell adenocarcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4900"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed cell adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4901 oboInOwl:hasDbXref "NCI:C40023"^^xsd:string, "UMLS_CUI:C1514429"^^xsd:string ; oboInOwl:hasExactSynonym "primary peritoneal serous adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4901"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peritoneal serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1791 . obo:DOID_4902 obo:IAO_0000115 "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9330"^^xsd:string, "SNOMEDCT_US_2021_03_01:269541000"^^xsd:string, "UMLS_CUI:C0728951"^^xsd:string ; oboInOwl:hasExactSynonym "Ca appendix"@en, "carcinoma of appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4902"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11239, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001154 ] . obo:DOID_4903 obo:IAO_0000115 "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000230"^^xsd:string, "NCI:C3681"^^xsd:string, "SNOMEDCT_US_2021_03_01:69028005"^^xsd:string, "UMLS_CUI:C0205644"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granular cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_4904 oboInOwl:hasExactSynonym "adenocarcinoma, intestinal type (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4904"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal type carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4905 obo:IAO_0000115 "A pancreas cancer that derives_from epithelial cells located_in the pancreas."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002618"^^xsd:string, "MESH:C562463"^^xsd:string, "NCI:C3850"^^xsd:string, "OMIM:260350"^^xsd:string, "SNOMEDCT_US_2021_03_01:154475002"^^xsd:string, "UMLS_CUI:C0235974"^^xsd:string ; oboInOwl:hasExactSynonym "Exocrine pancreas carcinoma"@en, "carcinoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Pancreatic carcinoma, familial"^^xsd:string, "Pancreatic carcinoma, familial"@en, "exocrine cancer"@en ; oboInOwl:id "DOID:4905"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pancreatic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1793, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000017 ] . obo:DOID_4906 obo:IAO_0000115 "A small intestine carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "GARD:13090"^^xsd:string, "NCI:C7888"^^xsd:string, "SNOMEDCT_US_2021_03_01:424440001"^^xsd:string, "UMLS_CUI:C0278803"^^xsd:string ; oboInOwl:hasExactSynonym "small intestinal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of small Intestine"@en ; oboInOwl:id "DOID:4906"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4907, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4907 obo:IAO_0000115 "A small intestine cancer that develops from epithelial cells and is located_in the small intestine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7724"^^xsd:string, "UMLS_CUI:C0238196"^^xsd:string ; oboInOwl:hasExactSynonym "small intestinal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of the small bowel"@en, "small bowel cancer"@en ; oboInOwl:id "DOID:4907"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10154, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] . obo:DOID_4908 obo:IAO_0000115 "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001005"^^xsd:string, "NCI:C9291"^^xsd:string, "SNOMEDCT_US_2021_03_01:187762000"^^xsd:string, "UMLS_CUI:C0279637"^^xsd:string ; oboInOwl:hasExactSynonym "Ca anus"@en, "carcinoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4908"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14110, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4910 obo:IAO_0000115 "An urethra cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6167"^^xsd:string, "UMLS_CUI:C1336885"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4910"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_734, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_4911 oboInOwl:hasExactSynonym "Superficial Spreading adenocarcinoma"@en, "Superficial spreading adenocarcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4911"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial spreading adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4912 oboInOwl:hasExactSynonym "Disseminated adenocarcinoma"@en, "Disseminated adenocarcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4912"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4914 obo:IAO_0000115 "An esophageal carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562730"^^xsd:string, "NCI:C4025"^^xsd:string, "SNOMEDCT_US_2021_03_01:276803003"^^xsd:string, "UMLS_CUI:C0279628"^^xsd:string ; oboInOwl:hasExactSynonym "Oesophageal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4914"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1107, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4915 oboInOwl:hasDbXref "NCI:C4150"^^xsd:string, "SNOMEDCT_US_2021_03_01:47107000"^^xsd:string, "UMLS_CUI:C0334314"^^xsd:string ; oboInOwl:hasExactSynonym "Basophil adenocarcinoma"@en, "Basophil carcinoma"@en, "basophilic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4915"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basophilic adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4916, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4916 oboInOwl:hasDbXref "MESH:D010911"^^xsd:string, "NCI:C4536"^^xsd:string, "SNOMEDCT_US_2021_03_01:128665000"^^xsd:string, "UMLS_CUI:C0346300"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the Pituitary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4916"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1785, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_4917 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4142"^^xsd:string, "SNOMEDCT_US_2021_03_01:28558000"^^xsd:string, "UMLS_CUI:C0334306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "villous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_4918 obo:IAO_0000115 "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6143"^^xsd:string, "UMLS_CUI:C1335748"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the kidney Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of renal pelvis"@en ; oboInOwl:id "DOID:4918"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4919, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4919 oboInOwl:hasAlternativeId "DOID:12343"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C65"^^xsd:string, "ICD9CM:189.1"^^xsd:string, "NCI:C6142"^^xsd:string, "NCI:C7525"^^xsd:string, "SNOMEDCT_US_2021_03_01:363457009"^^xsd:string, "UMLS_CUI:C0153618"^^xsd:string, "UMLS_CUI:C1335749"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of kidney Pelvis"@en, "malignant neoplasm of renal pelvis"@en, "malignant renal Pelvis neoplasm"@en, "malignant tumor of renal pelvis"@en, "renal pelvis cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4919"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001224 ] ) ] . obo:DOID_492 oboInOwl:hasDbXref "NCI:C27018"^^xsd:string, "UMLS_CUI:C0856897"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:492"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acquired hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4920 obo:IAO_0000115 "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:128686000"^^xsd:string, "UMLS_CUI:C1266066"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4920"^^xsd:string ; a owl:Class ; rdfs:label "eccrine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4921, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4921 oboInOwl:hasDbXref "NCI:C5559"^^xsd:string, "UMLS_CUI:C1334577"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Eccrine tumor"@en, "malignant eccrine skin neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4921"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine sweat gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2095 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000423 ] ) ] . obo:DOID_4922 obo:IAO_0000115 "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6586"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537535"^^xsd:string, "NCI:C4189"^^xsd:string, "SNOMEDCT_US_2021_03_01:41919003"^^xsd:string, "UMLS_CUI:C0334371"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile Secretory carcinoma of breast"@en, "Juvenile carcinoma of the breast"@en, "juvenile breast carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "juvenile carcinoma of the breast"@en ; oboInOwl:id "DOID:4922"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast secretory carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_4923 obo:IAO_0000115 "A thymic carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6459"^^xsd:string, "UMLS_CUI:C1336743"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3284, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_4924 obo:IAO_0000115 "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers."^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4924"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papillomavirus related adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4925 obo:IAO_0000115 "A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas."^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4925"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papillomavirus related carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4926 obo:IAO_0000115 "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002282"^^xsd:string, "NCI:C2923"^^xsd:string, "SNOMEDCT_US_2021_03_01:307595008"^^xsd:string, "UMLS_CUI:C0007120"^^xsd:string ; oboInOwl:hasExactSynonym "Bronchioalveolar lung carcinoma"@en, "Bronchioloalveolar carcinoma"@en, "Minimally Invasive Lung Adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4926"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchiolo-alveolar adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_4927 obo:IAO_0000115 "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5246"^^xsd:string ; oboInOwl:hasDbXref "GARD:10175"^^xsd:string, "MESH:D018285"^^xsd:string, "NCI:C36077"^^xsd:string, "SNOMEDCT_US_2021_03_01:253017000"^^xsd:string, "UMLS_CUI:C0206702"^^xsd:string ; oboInOwl:hasExactSynonym "Klatskin tumor"@en, "Klatskin tumour"@en, "Klatskin's tumour"@en, "Perihilar extrahepatic bile duct carcinoma"@en, "hilar cholangiocarcinoma"@en, "hilar cholangiocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4927"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Klatskin's tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4928 . obo:DOID_4928 oboInOwl:hasDbXref "GARD:6042"^^xsd:string, "ICD10CM:C22.1"^^xsd:string, "MESH:D018281"^^xsd:string, "NCI:C35417"^^xsd:string, "SNOMEDCT_US_2021_03_01:109842005"^^xsd:string, "UMLS_CUI:C0345905"^^xsd:string ; oboInOwl:hasExactSynonym "Intrahepatic bile duct carcinoma"@en, "peripheral Cholangiocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4928"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "intrahepatic cholangiocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4947 . obo:DOID_4929 obo:IAO_0000115 "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000230"^^xsd:string, "NCI:C65192"^^xsd:string, "SNOMEDCT_US_2021_03_01:4631006"^^xsd:string, "UMLS_CUI:C0205645"^^xsd:string ; oboInOwl:hasExactSynonym "tubular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tubular adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299 . obo:DOID_4930 obo:IAO_0000115 "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6015"^^xsd:string, "UMLS_CUI:C1334920"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of nasal cavity"@en ; oboInOwl:id "DOID:4930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4931, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4931 obo:IAO_0000115 "A nasal cavity cancer that_has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9336"^^xsd:string, "UMLS_CUI:C1377785"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of nasal cavity"@en ; oboInOwl:id "DOID:4931"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10811, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] . obo:DOID_4932 obo:IAO_0000115 "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3908"^^xsd:string, "SNOMEDCT_US_2021_03_01:254609000"^^xsd:string, "UMLS_CUI:C0262401"^^xsd:string ; oboInOwl:hasExactSynonym "ampulla of vater cancer"@en, "ampullary carcinoma"@en, "carcinoma of ampulla of vater"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4932"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10020, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] . obo:DOID_4933 obo:IAO_0000115 "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5571"^^xsd:string ; oboInOwl:hasDbXref "GARD:12138"^^xsd:string, "NCI:C4169"^^xsd:string, "SNOMEDCT_US_2021_03_01:57141000"^^xsd:string, "UMLS_CUI:C0334346"^^xsd:string ; oboInOwl:hasExactSynonym "Apocrine adenocarcinoma"@en, "Apocrine carcinoma"@en, "apocrine gland carcinoma"@en, "carcinoma of the Apocrine gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4933"^^xsd:string ; a owl:Class ; rdfs:label "apocrine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4934, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4934 oboInOwl:hasDbXref "NCI:C6800"^^xsd:string, "UMLS_CUI:C1334561"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Apocrine tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apocrine sweat gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2095 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000382 ] ) ] . obo:DOID_4935 oboInOwl:hasExactSynonym "Acidophil carcinoma (morphologic abnormality)"@en, "Eosinophil carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4935"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acidophil carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4936 oboInOwl:hasExactSynonym "mixed acidophil-basophil carcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4936"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed eosinophil-basophil carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4937 oboInOwl:hasExactSynonym "Follicular carcinoma, oxyphilic cell"@en, "Hurthle cell adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4937"^^xsd:string ; a owl:Class ; rdfs:label "obsolete oxyphilic adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4938 obo:IAO_0000115 "An ureter carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6155"^^xsd:string, "UMLS_CUI:C1336873"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of ureter"@en ; oboInOwl:id "DOID:4938"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_4939, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_4939 obo:IAO_0000115 "An ureter cancer that is located_in the ureter."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8993"^^xsd:string, "UMLS_CUI:C0600079"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4939"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11819, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] . obo:DOID_4942 oboInOwl:hasExactSynonym "Combined hepatocellular carcinoma and cholangiocarcinoma (disorder)"@en, "Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality)"@en, "carcinoma of Liver and Intrahepatic biliary tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4942"^^xsd:string ; a owl:Class ; rdfs:label "obsolete combined hepatocellular carcinoma and cholangiocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_4943 obo:IAO_0000115 "An in situ carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D065311"^^xsd:string, "NCI:C4123"^^xsd:string, "SNOMEDCT_US_2021_03_01:51642000"^^xsd:string, "UMLS_CUI:C0334276"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4943"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenocarcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719 ; skos:exactMatch "MESH:D065311"^^xsd:string . obo:DOID_4944 oboInOwl:hasDbXref "NCI:C9296"^^xsd:string, "UMLS_CUI:C1332166"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of Cardioesophageal junction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of gastroesophageal junction"@en ; oboInOwl:id "DOID:4944"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastroesophageal junction adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080375, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007650 ] . obo:DOID_4947 obo:IAO_0000115 "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5249"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C22.1"^^xsd:string, "MESH:D018281"^^xsd:string, "NCI:C4436"^^xsd:string, "NCI:C8265"^^xsd:string, "SNOMEDCT_US_2021_03_01:70179006"^^xsd:string, "UMLS_CUI:C0206698"^^xsd:string, "UMLS_CUI:C0280725"^^xsd:string ; oboInOwl:hasExactSynonym "adult primary Cholangiocarcinoma"@en, "adult primary cholangiocellular carcinoma"@en, "cholangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4947"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholangiocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4896 . obo:DOID_4948 obo:IAO_0000115 "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3844"^^xsd:string, "SNOMEDCT_US_2021_03_01:93810008"^^xsd:string, "UMLS_CUI:C0235782"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of the gallbladder"@en, "carcinoma gallbladder"@en, "carcinoma of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_495 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:134302009"^^xsd:string, "UMLS_CUI:C1509148"^^xsd:string ; oboInOwl:hasExactSynonym "Sclerosing haemangioma"@en, "Sclerosing hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:495"^^xsd:string ; a owl:Class ; rdfs:label "sclerosing hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4952 obo:IAO_0000115 "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems."^^xsd:string ; oboInOwl:hasDbXref "GARD:4454"^^xsd:string, "ICD10CM:G14"^^xsd:string, "MESH:D016262"^^xsd:string, "SNOMEDCT_US_2021_03_01:31097004"^^xsd:string, "UMLS_CUI:C0080040"^^xsd:string ; oboInOwl:hasExactSynonym "Postpolio syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4952"^^xsd:string ; a owl:Class ; rdfs:label "postpoliomyelitis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000581 ] . obo:DOID_4953 obo:IAO_0000115 "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7413"^^xsd:string, "ICD10CM:A80"^^xsd:string, "ICD9CM:045"^^xsd:string, "MESH:D011051"^^xsd:string, "NCI:C35550"^^xsd:string, "SNOMEDCT_US_2021_03_01:54839009"^^xsd:string, "UMLS_CUI:C0032371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4953"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "poliomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_574, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_12080 obo:NCBITaxon_12083 obo:NCBITaxon_12086 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_4955 obo:IAO_0000115 "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4954"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4661"^^xsd:string, "NCI:C5504"^^xsd:string, "SNOMEDCT_US_2021_03_01:277523004"^^xsd:string, "UMLS_CUI:C0349623"^^xsd:string, "UMLS_CUI:C1332887"^^xsd:string ; oboInOwl:hasExactSynonym "melanocytic tumor of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "central nervous system primary melanocytic lesion"@en, "primary melanocytic Lesions of the CNS"@en, "primary melanocytic lesion of meninges"@en ; oboInOwl:id "DOID:4955"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system melanocytic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3620 . obo:DOID_4956 oboInOwl:hasExactSynonym "tumor of leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4956"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leptomeningeal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_4957 oboInOwl:hasDbXref "NCI:C4660"^^xsd:string, "SNOMEDCT_US_2021_03_01:277522009"^^xsd:string, "UMLS_CUI:C0349622"^^xsd:string ; oboInOwl:hasExactSynonym "Meningeal hemangiopericytoma"@en, "hemangiopericytoma of meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4957"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meninges hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_264 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010743 ] ) ] . obo:DOID_4958 obo:IAO_0000115 "A hemangiopericytoma which is manifested in the central nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4958"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system hemangiopericytoma"^^xsd:string ; owl:deprecated true . obo:DOID_4959 obo:IAO_0000115 "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."^^xsd:string ; oboInOwl:hasDbXref "GARD:2150"^^xsd:string, "ICD10CM:Q81.2"^^xsd:string, "MESH:D016108"^^xsd:string, "NCI:C84691"^^xsd:string, "SNOMEDCT_US_2021_03_01:254185007"^^xsd:string, "UMLS_CUI:C0079294"^^xsd:string ; oboInOwl:hasExactSynonym "Dystrophic epidermolysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4959"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epidermolysis bullosa dystrophica"^^xsd:string ; rdfs:subClassOf obo:DOID_2730 . obo:DOID_496 oboInOwl:hasDbXref "NCI:C4754"^^xsd:string, "SNOMEDCT_US_2021_03_01:128769003"^^xsd:string, "UMLS_CUI:C1304508"^^xsd:string ; oboInOwl:hasExactSynonym "SCH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:496"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_4960 obo:IAO_0000115 "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2356"^^xsd:string, "DOID:2761"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004251"^^xsd:string, "ICD10CM:D47.1"^^xsd:string, "MESH:D009196"^^xsd:string, "SNOMEDCT_US_2021_03_01:128925001"^^xsd:string, "UMLS_CUI:C0027022"^^xsd:string ; oboInOwl:hasExactSynonym "bone Marrow tumor"@en, "bone marrow neoplasm"@en, "malignant bone Marrow tumor"@en, "malignant neoplasm of bone marrow"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4960"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bone marrow cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2531, obo:DOID_4961 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002371 ] ) ] . obo:DOID_4961 oboInOwl:hasDbXref "MESH:D001855"^^xsd:string, "NCI:C34433"^^xsd:string, "SNOMEDCT_US_2021_03_01:127035006"^^xsd:string, "UMLS_CUI:C0005956"^^xsd:string ; oboInOwl:hasExactSynonym "bone marrow disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4961"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone marrow disease"^^xsd:string ; rdfs:subClassOf obo:DOID_74 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002371 ] ) ] . obo:DOID_4962 obo:IAO_0000115 "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.84"^^xsd:string, "MESH:D010495"^^xsd:string, "SNOMEDCT_US_2021_03_01:67256000"^^xsd:string, "UMLS_CUI:C0031049"^^xsd:string ; oboInOwl:hasExactSynonym "tuberculous pericarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4962"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pericardial tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_0050829, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0005132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000876 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] . obo:DOID_4964 obo:IAO_0000115 "An anxiety disorder that involves discress but neither delusions nor hallucinations."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6342"^^xsd:string, "DOID:9687"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F34.1"^^xsd:string, "ICD10CM:F48.9"^^xsd:string, "MESH:D000275"^^xsd:string, "MESH:D003866"^^xsd:string, "MESH:D009497"^^xsd:string, "NCI:C34533"^^xsd:string, "NCI:C34848"^^xsd:string, "NCI:C35369"^^xsd:string, "SNOMEDCT_US_2021_03_01:154881002"^^xsd:string, "SNOMEDCT_US_2021_03_01:78667006"^^xsd:string, "SNOMEDCT_US_2021_03_01:87414006"^^xsd:string, "UMLS_CUI:C0011579"^^xsd:string, "UMLS_CUI:C0027932"^^xsd:string, "UMLS_CUI:C0282126"^^xsd:string ; oboInOwl:hasExactSynonym "Neurotic depression reactive type"@en, "Neurotic depressive state"@en, "Psychoneurosis"@en, "depressive neurosis"@en, "neurosis"@en, "neurotic depression"@en, "reactive depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4964"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurotic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_4966 oboInOwl:hasExactSynonym "Adrenal Cortical hyperplasia"@en, "Adrenocortical hyperplasia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4966"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenocortical hyperplasia"^^xsd:string ; owl:deprecated true . obo:DOID_4967 oboInOwl:hasExactSynonym "Adrenal gland hyperplasia"@en, "Adrenal hypertrophy or hyperplasia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4967"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenal hyperplasia"^^xsd:string ; owl:deprecated true . obo:DOID_4968 oboInOwl:hasDbXref "GARD:7170"^^xsd:string, "ICD10CM:E24.1"^^xsd:string, "MESH:D009347"^^xsd:string, "NCI:C84917"^^xsd:string, "SNOMEDCT_US_2021_03_01:43019009"^^xsd:string, "UMLS_CUI:C0027577"^^xsd:string ; oboInOwl:hasExactSynonym "Nelson's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4968"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Nelson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3952 . obo:DOID_4969 obo:IAO_0000115 "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia."^^xsd:string ; oboInOwl:hasDbXref "GARD:8660"^^xsd:string, "MEDDRA:10048608"^^xsd:string, "MESH:D005862"^^xsd:string, "ORDO:221117"^^xsd:string, "SNOMEDCT_US_2021_03_01:36785009"^^xsd:string, "UMLS_CUI:C0017494"^^xsd:string ; oboInOwl:hasExactSynonym "Aphasia-angular gyrus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4969"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Gerstmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_4970 obo:IAO_0000115 "An agnosia that results in the loss of the ability to consciously recognize familiar faces."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R48.3"^^xsd:string, "MESH:D020238"^^xsd:string, "NCI:C85031"^^xsd:string, "SNOMEDCT_US_2021_03_01:18358003"^^xsd:string, "UMLS_CUI:C0234512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4970"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prosopagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_4971 obo:IAO_0000115 "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5737"^^xsd:string ; oboInOwl:hasDbXref "GARD:8618"^^xsd:string, "ICD10CM:D47.4"^^xsd:string, "ICD10CM:D75.81"^^xsd:string, "ICD9CM:238.76"^^xsd:string, "ICD9CM:289.83"^^xsd:string, "MESH:D055728"^^xsd:string, "NCI:C2862"^^xsd:string, "NCI:C3248"^^xsd:string, "OMIM:254450"^^xsd:string, "SNOMEDCT_US_2021_03_01:128843003"^^xsd:string, "SNOMEDCT_US_2021_03_01:267572005"^^xsd:string, "UMLS_CUI:C0001815"^^xsd:string, "UMLS_CUI:C0026987"^^xsd:string ; oboInOwl:hasExactSynonym "Agnogenic myeloid metaplasia"@en, "Aleukemic myelosis"@en, "Megakaryocytic myelosclerosis"@en, "bone Marrow Fibrosis"@en, "myelosclerosis"@en, "primary myelofibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4971"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myelofibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0070004 . obo:DOID_4972 obo:IAO_0000115 "A myeloid neoplasm that results_in the overproduction of white blood cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6470"^^xsd:string ; oboInOwl:hasDbXref "MESH:D054437"^^xsd:string, "NCI:C27262"^^xsd:string, "SNOMEDCT_US_2021_03_01:445738007"^^xsd:string, "UMLS_CUI:C1301355"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloproliferative/Myelodysplastic syndromes"@en, "myelodysplastic myeloproliferative cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "myelodysplastic myeloproliferative disease"@en ; oboInOwl:id "DOID:4972"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myelodysplastic/myeloproliferative neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0070004 . obo:DOID_4974 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000187"^^xsd:string, "SNOMEDCT_US_2021_03_01:16140007"^^xsd:string, "UMLS_CUI:C0001247"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4974"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "actinobacillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_1579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_723 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ; skos:exactMatch "MESH:D000187"^^xsd:string . obo:DOID_4975 oboInOwl:hasExactSynonym "Actinobacillus infection (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4975"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Actinobacillus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_4976 oboInOwl:hasDbXref "MESH:D004604"^^xsd:string, "NCI:C34569"^^xsd:string, "SNOMEDCT_US_2021_03_01:155485008"^^xsd:string, "UMLS_CUI:C0013882"^^xsd:string ; oboInOwl:hasExactSynonym "Elephantiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "elephantiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4977 . obo:DOID_4977 oboInOwl:hasDbXref "MESH:D008209"^^xsd:string, "NCI:C3207"^^xsd:string, "SNOMEDCT_US_2021_03_01:266334008"^^xsd:string, "UMLS_CUI:C0024236"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphatic edema"@en, "Lymphoedema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4977"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphedema"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_4978 oboInOwl:hasExactSynonym "recurrent Askin's tumor"@en, "recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ewing's family recurrent tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4979 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent primitive neuroectodermal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4982 oboInOwl:hasExactSynonym "Ewing's sarcoma, metastatic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4982"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4983 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4983"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor"^^xsd:string ; owl:deprecated true . obo:DOID_4985 oboInOwl:hasDbXref "NCI:C7135"^^xsd:string, "UMLS_CUI:C0279980"^^xsd:string ; oboInOwl:hasExactSynonym "extraosseous Ewing's tumor"@en, "extraosseous Ewing's tumour"@en, "extraosseous Ewings sarcoma-primitive neuroepithelial tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4985"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extraosseous Ewings sarcoma-primitive neuroepithelial tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4232 . obo:DOID_4986 obo:IAO_0000115 "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A80.4"^^xsd:string, "ICD9CM:045.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:14535005"^^xsd:string, "UMLS_CUI:C0152998"^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis"@en, "non-paralytic aseptic meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4986"^^xsd:string ; a owl:Class ; rdfs:label "nonparalytic poliomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_231, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000100 ] . obo:DOID_4987 oboInOwl:hasExactSynonym "relapsed Ewing's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4987"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_4988 oboInOwl:hasDbXref "MESH:D019512"^^xsd:string, "SNOMEDCT_US_2021_03_01:445507008"^^xsd:string, "UMLS_CUI:C0376670"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4988"^^xsd:string ; a owl:Class ; rdfs:label "alcoholic pancreatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4989, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_4989 obo:IAO_0000115 "A pancreas disease that is characterized by inflammation of the pancreas."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000278"^^xsd:string, "ICD10CM:K85.9"^^xsd:string, "MESH:D010195"^^xsd:string, "NCI:C3306"^^xsd:string, "OMIM:167800"^^xsd:string, "SNOMEDCT_US_2021_03_01:393591004"^^xsd:string, "UMLS_CUI:C0030305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4989"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] . obo:DOID_4990 obo:IAO_0000115 "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms."^^xsd:string ; oboInOwl:hasDbXref "GARD:5910"^^xsd:string, "ICD10CM:G25.0"^^xsd:string, "MESH:D020329"^^xsd:string, "OMIM:PS190300"^^xsd:string, "ORDO:862"^^xsd:string, "SNOMEDCT_US_2021_03_01:192839001"^^xsd:string, "UMLS_CUI:C0270736"^^xsd:string ; oboInOwl:hasExactSynonym "benign essential tremor"@en, "essential hereditary tremor"@en, "shaky hand syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4990"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "essential tremor"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_4991 oboInOwl:hasAlternativeId "DOID:4849"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6769"^^xsd:string, "NCI:C7533"^^xsd:string, "UMLS_CUI:C1335114"^^xsd:string, "UMLS_CUI:C1336971"^^xsd:string ; oboInOwl:hasExactSynonym "Astrocytic tumor of optic nerve"@en, "optic tract astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4991"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic nerve astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_440, obo:DOID_4992, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ] . obo:DOID_4992 oboInOwl:hasDbXref "GARD:4107"^^xsd:string, "MESH:D020339"^^xsd:string, "NCI:C4537"^^xsd:string, "SNOMEDCT_US_2021_03_01:254976006"^^xsd:string, "UMLS_CUI:C0346326"^^xsd:string ; oboInOwl:hasExactSynonym "glioma of the optic nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4992"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic nerve glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060108, obo:DOID_3419 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060108 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ] ) ] . obo:DOID_4993 obo:IAO_0000115 "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6895"^^xsd:string, "SNOMEDCT_US_2021_03_01:40293003"^^xsd:string, "UMLS_CUI:C1300347"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical polypoid adenomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4993"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical polypoid adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2609 . obo:DOID_4994 obo:IAO_0000115 "A uterine benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6338"^^xsd:string, "UMLS_CUI:C1336903"^^xsd:string ; oboInOwl:hasExactSynonym "adenomyoma of Corpus Uteri"@en, "uterine corpus adenomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4994"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenomyoma of uterine corpus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_4995 obo:IAO_0000115 "A cervical benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40231"^^xsd:string, "UMLS_CUI:C1516404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4995"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060110, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] . obo:DOID_4997 obo:IAO_0000115 "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:1072"^^xsd:string, "ICD10CM:Q78.3"^^xsd:string, "MESH:D003966"^^xsd:string, "NCI:C84610"^^xsd:string, "OMIM:131300"^^xsd:string, "OMIM:606631"^^xsd:string, "SNOMEDCT_US_2021_03_01:34643004"^^xsd:string, "UMLS_CUI:C0011989"^^xsd:string ; oboInOwl:hasExactSynonym "Diaphyseal dysplasia"@en, "Engelman's disease"@en, "progressive diaphyseal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Camurati-Engelmann disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_4998 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015826"^^xsd:string, "NCI:C75118"^^xsd:string, "OMIM:150230"^^xsd:string, "SNOMEDCT_US_2021_03_01:41069008"^^xsd:string, "UMLS_CUI:C0023003"^^xsd:string ; oboInOwl:hasExactSynonym "Langer-Giedion syndrome"@en, "Trichorhinophalangeal dysplasia type II"@en, "trichorhinophalangeal syndrome type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "trichorhinophalangeal syndrome type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ] . obo:DOID_4999 oboInOwl:hasExactSynonym "Syphilitic alopecia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:4999"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic alopecia"^^xsd:string ; owl:deprecated true . obo:DOID_50 obo:IAO_0000115 "An endocrine system disease that is located_in the thyroid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E07.9"^^xsd:string, "ICD9CM:246.9"^^xsd:string, "MESH:D013959"^^xsd:string, "NCI:C26893"^^xsd:string, "SNOMEDCT_US_2021_03_01:14304000"^^xsd:string, "UMLS_CUI:C0040128"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:50"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002046 ] ) ] . obo:DOID_5000 oboInOwl:hasExactSynonym "Syphilitic skin disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5000"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_5002 obo:IAO_0000115 "A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat."^^xsd:string ; oboInOwl:hasExactSynonym "Fever, swamp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5002"^^xsd:string ; a owl:Class ; rdfs:label "obsolete equine infectious anemia"^^xsd:string ; owl:deprecated true . obo:DOID_5003 obo:IAO_0000115 "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005058"^^xsd:string, "SNOMEDCT_US_2021_03_01:190559001"^^xsd:string, "UMLS_CUI:C0238117"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5003"^^xsd:string ; a owl:Class ; rdfs:label "eunuchism"^^xsd:string ; rdfs:subClassOf obo:DOID_1924 . obo:DOID_5006 oboInOwl:hasExactSynonym "adult primary cancer of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5006"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult primary liver cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5007 oboInOwl:hasExactSynonym "Resectable Hepatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5007"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_501 oboInOwl:hasDbXref "NCI:C7004"^^xsd:string, "UMLS_CUI:C1333957"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_5015 obo:IAO_0000115 "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537258"^^xsd:string, "NCI:C4131"^^xsd:string, "SNOMEDCT_US_2021_03_01:15619004"^^xsd:string, "UMLS_CUI:C0334287"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrolamellar hepatocellular carcinoma"@en, "Hepatocellular carcinoma, fibrolamellar"@en, "Oncocytic Hepatocellular tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5015"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrolamellar carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_684 . obo:DOID_5016 oboInOwl:hasDbXref "ICDO:M8174/3"^^xsd:string, "NCI:C5754"^^xsd:string, "SNOMEDCT_US_2021_03_01:128649001"^^xsd:string, "UMLS_CUI:C1266020"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of the Liver cells"@en, "Hepatocellular carcinoma, clear cell type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatocellular clear cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_684 . obo:DOID_5017 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5017"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatitis virus related hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5019 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-resectable hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_502 obo:IAO_0000115 "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm."^^xsd:string ; oboInOwl:hasExactSynonym "Non-meningothelial mesenchymal tumor"@en, "Non-meningothelial mesenchymal tumour"@en, "central nervous system mesenchymal non-meningothelial tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:502"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system mesenchymal non-meningothelial tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3620 . obo:DOID_5022 oboInOwl:hasDbXref "NCI:C27922"^^xsd:string, "UMLS_CUI:C1332222"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aflatoxins-related hepatocellular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_684 . obo:DOID_5026 oboInOwl:hasDbXref "NCI:C27388"^^xsd:string, "SNOMEDCT_US_2021_03_01:128646008"^^xsd:string, "UMLS_CUI:C1266018"^^xsd:string ; oboInOwl:hasExactSynonym "Sclerosing Hepatocellular carcinoma"@en, "Sclerosing hepatic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5026"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosing hepatic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_684 . obo:DOID_5027 oboInOwl:hasExactSynonym "relapsed Hepatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5028 oboInOwl:hasExactSynonym "relapsed cancer of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5028"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of Liver"^^xsd:string ; owl:deprecated true . obo:DOID_5029 obo:IAO_0000115 "A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5029"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Alphavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5030 oboInOwl:hasDbXref "NCI:C6967"^^xsd:string, "SNOMEDCT_US_2021_03_01:715904005"^^xsd:string, "UMLS_CUI:C1367859"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal Parenchymal tumor of Intermediate differentiation"@en, "Pineal Parenchymal tumour of Intermediate differentiation"@en, "Pineal parenchymal tumor of intermediate differentiation"@en, "Pineal parenchymal tumour of intermediate differentiation"@en, "pineal parenchymal tumour of intermediate differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal parenchymal tumor of intermediate differentiation"^^xsd:string ; rdfs:subClassOf obo:DOID_1664 . obo:DOID_5031 oboInOwl:hasDbXref "NCI:C8273"^^xsd:string, "UMLS_CUI:C0280794"^^xsd:string ; oboInOwl:hasExactSynonym "adult Pineal Parenchymal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult pineal parenchymal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5032, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5032 obo:IAO_0000115 "An endocrine gland located_in the pineal gland located in the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1662"^^xsd:string, "DOID:4859"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C75.3"^^xsd:string, "ICD9CM:194.4"^^xsd:string, "MESH:D010871"^^xsd:string, "NCI:C3328"^^xsd:string, "NCI:C3573"^^xsd:string, "NCI:C6965"^^xsd:string, "SNOMEDCT_US_2021_03_01:127026004"^^xsd:string, "SNOMEDCT_US_2021_03_01:93962006"^^xsd:string, "UMLS_CUI:C0031941"^^xsd:string, "UMLS_CUI:C0153655"^^xsd:string, "UMLS_CUI:C1412004"^^xsd:string ; oboInOwl:hasExactSynonym "Pinealoma"@en, "Pineocytic tumor"@en, "malignant Pineal Region tumor"@en, "malignant tumor of pineal gland"@en, "neoplasm of pineal gland"@en, "neoplasm of the Pineal Region"@en, "pineal body neoplasm"@en, "tumor of the pineal region"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5032"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_170 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001905 ] ) ] . obo:DOID_5039 oboInOwl:hasDbXref "MESH:D009379"^^xsd:string, "NCI:C3252"^^xsd:string, "UMLS_CUI:C0027043"^^xsd:string ; oboInOwl:hasExactSynonym "benign granular cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5039"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_461 . obo:DOID_5040 oboInOwl:hasDbXref "NCI:C5700"^^xsd:string, "UMLS_CUI:C1333448"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell tumor of esophagus"@en, "granular cell tumour of oesophagus"@en, "malignant granular cell esophageal tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5040"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant granular cell esophageal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5041 . obo:DOID_5041 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the esophagus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10291"^^xsd:string, "DOID:10292"^^xsd:string, "DOID:10448"^^xsd:string, "DOID:1102"^^xsd:string, "DOID:1104"^^xsd:string ; oboInOwl:hasDbXref "GARD:6383"^^xsd:string, "ICD10CM:C15.3"^^xsd:string, "ICD10CM:C15.4"^^xsd:string, "ICD10CM:C15.5"^^xsd:string, "ICD9CM:150.2"^^xsd:string, "ICD9CM:150.3"^^xsd:string, "ICD9CM:150.4"^^xsd:string, "ICD9CM:150.5"^^xsd:string, "ICD9CM:150.8"^^xsd:string, "MESH:D004938"^^xsd:string, "NCI:C3028"^^xsd:string, "NCI:C3533"^^xsd:string, "NCI:C3534"^^xsd:string, "NCI:C3535"^^xsd:string, "NCI:C4764"^^xsd:string, "OMIM:133239"^^xsd:string, "SNOMEDCT_US_2021_03_01:126817006"^^xsd:string, "SNOMEDCT_US_2021_03_01:187729008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93656003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93877002"^^xsd:string, "SNOMEDCT_US_2021_03_01:93895004"^^xsd:string, "SNOMEDCT_US_2021_03_01:94119000"^^xsd:string, "UMLS_CUI:C0014859"^^xsd:string, "UMLS_CUI:C0153413"^^xsd:string, "UMLS_CUI:C0153414"^^xsd:string, "UMLS_CUI:C0153415"^^xsd:string, "UMLS_CUI:C0153416"^^xsd:string, "UMLS_CUI:C0496775"^^xsd:string ; oboInOwl:hasExactSynonym "Ca lower third oesophagus"@en, "Ca middle third oesophagus"@en, "esophagus cancer"@en, "malignant neoplasm of distal third of esophagus"@en, "malignant neoplasm of lower third of oesophagus"@en, "malignant neoplasm of middle third of oesophagus"@en, "malignant neoplasm of proximal third of esophagus"@en, "malignant neoplasm of upper third esophagus"@en, "malignant tumor of Distal Third of esophagus"@en, "malignant tumor of Proximal Third of esophagus"@en, "malignant tumor of abdominal esophagus"@en, "malignant tumor of the middle Third of the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5041"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "esophageal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_6050 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_5042 oboInOwl:hasDbXref "NCI:C4336"^^xsd:string, "SNOMEDCT_US_2021_03_01:404041003"^^xsd:string, "UMLS_CUI:C0334618"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell tumor, malignant"@en, "malignant granular cell neoplasm"@en, "malignant granular cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant granular cell myoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4159 . obo:DOID_5043 obo:IAO_0000115 "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40328"^^xsd:string, "UMLS_CUI:C1520083"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_5044 oboInOwl:hasDbXref "NCI:C5360"^^xsd:string, "UMLS_CUI:C1332845"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell tumor of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac granular cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060091 . obo:DOID_5046 oboInOwl:hasDbXref "NCI:C6601"^^xsd:string, "UMLS_CUI:C1334656"^^xsd:string ; oboInOwl:hasExactSynonym "granular cell tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5046"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal granular cell myoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6175 . obo:DOID_5047 oboInOwl:hasDbXref "NCI:C7017"^^xsd:string, "SNOMEDCT_US_2021_03_01:699331002"^^xsd:string, "UMLS_CUI:C1333873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5047"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurohypophysis granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5048, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002198 ] . obo:DOID_5048 oboInOwl:hasDbXref "NCI:C7157"^^xsd:string, "UMLS_CUI:C1334957"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior Pituitary tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5048"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior pituitary gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1785 . obo:DOID_505 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:505"^^xsd:string ; a owl:Class ; rdfs:label "hobnail hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_5050 oboInOwl:hasDbXref "MESH:D002286"^^xsd:string, "UMLS_CUI:C0007125"^^xsd:string ; oboInOwl:hasExactSynonym "Ehrlich tumour carcinoma"@en, "Ehrlich's tumor"@en, "Ehrlich's tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5050"^^xsd:string ; a owl:Class ; rdfs:label "Ehrlich tumor carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_5052 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050062"^^xsd:string, "DOID:0050064"^^xsd:string ; oboInOwl:hasDbXref "GARD:9546"^^xsd:string, "ICD10CM:A24.9"^^xsd:string, "ICD9CM:025"^^xsd:string, "MESH:D008554"^^xsd:string, "NCI:C128336"^^xsd:string, "SNOMEDCT_US_2021_03_01:428111003"^^xsd:string, "UMLS_CUI:C0025229"^^xsd:string ; oboInOwl:hasExactSynonym "Nightcliff gardener's disease"@en, "Pseudoglanders"@en, "Whitmore's disease"@en, "acute and fulminating melioidosis"@en, "subacute and chronic melioidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5052"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "melioidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_28450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_5053 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5053"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Burkholderia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5055 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5055"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuronal and mixed neuronal-glial tumor of cerebellum"^^xsd:string ; owl:deprecated true . obo:DOID_5056 oboInOwl:hasDbXref "NCI:C5968"^^xsd:string, "UMLS_CUI:C1332197"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of adult Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5056"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult cerebellar neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4205, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5057 oboInOwl:hasDbXref "NCI:C5270"^^xsd:string, "UMLS_CUI:C1332902"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary meningioma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5057"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary meningioma of the cerebellum"^^xsd:string ; rdfs:subClassOf obo:DOID_0060106, obo:DOID_4205, obo:DOID_5058 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5058 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] ) ] . obo:DOID_5058 oboInOwl:hasDbXref "NCI:C6909"^^xsd:string, "SNOMEDCT_US_2021_03_01:399469000"^^xsd:string, "UMLS_CUI:C0259786"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary meningioma"@en, "Rhabdoid meningioma"@en, "meningioma, rhabdoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5058"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rhabdoid meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_5059 oboInOwl:hasDbXref "NCI:C5970"^^xsd:string, "UMLS_CUI:C1332959"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric tumor of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5059"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood cerebellar neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4205, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_5062 obo:IAO_0000115 "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010623"^^xsd:string, "SNOMEDCT_US_2021_03_01:7071007"^^xsd:string, "UMLS_CUI:C0031391"^^xsd:string ; oboInOwl:hasExactSynonym "PCP abuse"@en, "Phencyclidine abuse"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5062"^^xsd:string ; a owl:Class ; rdfs:label "phencyclidine abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_5063 oboInOwl:hasDbXref "MESH:D002281"^^xsd:string, "NCI:C2922"^^xsd:string, "SNOMEDCT_US_2021_03_01:37304002"^^xsd:string, "UMLS_CUI:C0007118"^^xsd:string ; oboInOwl:hasExactSynonym "Basisquamous cell carcinoma"@en, "Metatypical carcinoma"@en, "basosquamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5063"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2513 . obo:DOID_5069 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5069"^^xsd:string ; a owl:Class ; rdfs:label "obsolete uterine corpus soft tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_507 obo:IAO_0000115 "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:309"^^xsd:string, "SNOMEDCT_US_2021_03_01:17226007"^^xsd:string, "UMLS_CUI:C0040701"^^xsd:string ; oboInOwl:hasExactSynonym "adjustment disease"@en, "adjustment reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:507"^^xsd:string ; a owl:Class ; rdfs:label "adjustment disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_5070 oboInOwl:hasExactSynonym "neoplasm of body of uterus (disorder)"@en, "tumor of Corpus Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5070"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neoplasm of body of uterus"^^xsd:string ; owl:deprecated true . obo:DOID_5071 oboInOwl:hasExactSynonym "soft tissue tumor of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5071"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system soft tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_5072 oboInOwl:hasExactSynonym "Gliomatosis of the meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5072"^^xsd:string ; a owl:Class ; rdfs:label "obsolete meninges gliomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_5073 oboInOwl:hasExactSynonym "malignant Meningeal tumor"@en, "malignant meningeal neoplasm (morphologic abnormality)"@en, "malignant neoplasm of meninges NOS"@en, "malignant neoplasm of meninges, unspecified"@en, "malignant neoplasm of meninges, unspecified (disorder)"@en, "malignant tumor of meninges (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5073"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of meninges"^^xsd:string ; owl:deprecated true . obo:DOID_5074 obo:IAO_0000115 "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060107"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9391/3"^^xsd:string, "NCI:C6770"^^xsd:string, "UMLS_CUI:C1333407"^^xsd:string ; oboInOwl:hasExactSynonym "Ependymal neoplasm"@en, "ependymal tumors"@en, "malignant ependymoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5074"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "high grade ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070, obo:DOID_3541, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002285 ] . obo:DOID_5075 oboInOwl:hasDbXref "GARD:10633"^^xsd:string, "MESH:D004806"^^xsd:string, "NCI:C3697"^^xsd:string, "SNOMEDCT_US_2021_03_01:1623000"^^xsd:string, "UMLS_CUI:C0205769"^^xsd:string ; oboInOwl:hasExactSynonym "Myxopapillary Ependymoma"@en, "Myxopapillary ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5075"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxopapillary ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_5076 oboInOwl:hasDbXref "MESH:D005910"^^xsd:string, "NCI:C3903"^^xsd:string, "SNOMEDCT_US_2021_03_01:443937008"^^xsd:string, "UMLS_CUI:C0259783"^^xsd:string ; oboInOwl:hasExactSynonym "mixed Neuroglial tumor"@en, "mixed gliomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3070 . obo:DOID_5077 oboInOwl:hasDbXref "GARD:10632"^^xsd:string, "MESH:D001254"^^xsd:string, "NCI:C3696"^^xsd:string, "SNOMEDCT_US_2021_03_01:449799008"^^xsd:string, "UMLS_CUI:C0205768"^^xsd:string ; oboInOwl:hasExactSynonym "SEGA"@en, "Subependymal giant cell astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5077"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subependymal giant cell astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4843 . obo:DOID_5078 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in glial-type cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5606"^^xsd:string, "DOID:5607"^^xsd:string ; oboInOwl:hasDbXref "GARD:2430"^^xsd:string, "MESH:D018303"^^xsd:string, "NCI:C27362"^^xsd:string, "NCI:C27363"^^xsd:string, "NCI:C3788"^^xsd:string, "SNOMEDCT_US_2021_03_01:87191000119100"^^xsd:string, "UMLS_CUI:C0206716"^^xsd:string, "UMLS_CUI:C1332202"^^xsd:string, "UMLS_CUI:C1332969"^^xsd:string ; oboInOwl:hasExactSynonym "CNS ganglioglioma"@en, "adult ganglioglioma"@en, "childhood ganglioglioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5078"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ganglioglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060090, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000540 ] ) ] ) ] . obo:DOID_5082 oboInOwl:hasDbXref "EFO:0001422"^^xsd:string, "ICD10CM:K74.60"^^xsd:string, "MESH:D008103"^^xsd:string, "NCI:C2951"^^xsd:string, "SNOMEDCT_US_2021_03_01:19943007"^^xsd:string, "UMLS_CUI:C0023890"^^xsd:string ; oboInOwl:hasExactSynonym "Cirrhosis"@en, "cirrhosis of liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5082"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver cirrhosis"^^xsd:string ; rdfs:subClassOf obo:DOID_409 . obo:DOID_5083 oboInOwl:hasDbXref "ICD9CM:244.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:190279008"^^xsd:string, "UMLS_CUI:C0154159"^^xsd:string ; oboInOwl:hasExactSynonym "Iodine hypothyroidism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5083"^^xsd:string ; a owl:Class ; rdfs:label "iodine hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_5085 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5085"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transmissible gastroenteritis of swine"^^xsd:string ; owl:deprecated true . obo:DOID_5086 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression."^^xsd:string ; oboInOwl:hasExactSynonym "Bluecomb disease (disorder)"@en, "mud fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transmissible enteritis of turkeys"^^xsd:string ; owl:deprecated true . obo:DOID_5087 obo:IAO_0000115 "A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5087"^^xsd:string ; a owl:Class ; rdfs:label "obsolete feline infectious peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_5088 oboInOwl:hasDbXref "NCI:C37265"^^xsd:string, "UMLS_CUI:C1334602"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5088"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed epithelial stromal tumour"^^xsd:string ; rdfs:subClassOf obo:DOID_154 . obo:DOID_5090 obo:IAO_0000115 "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6763"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6730"^^xsd:string, "NCI:C8408"^^xsd:string, "SNOMEDCT_US_2021_03_01:126559003"^^xsd:string, "UMLS_CUI:C1290244"^^xsd:string, "UMLS_CUI:C1382025"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5090"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sternum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000975 ] ) ] . obo:DOID_5093 obo:IAO_0000115 "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3937"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C76.1"^^xsd:string, "ICD9CM:195.1"^^xsd:string, "MESH:D013899"^^xsd:string, "NCI:C3406"^^xsd:string, "NCI:C3576"^^xsd:string, "SNOMEDCT_US_2021_03_01:188361007"^^xsd:string, "SNOMEDCT_US_2021_03_01:255058005"^^xsd:string, "UMLS_CUI:C0039981"^^xsd:string, "UMLS_CUI:C0153661"^^xsd:string ; oboInOwl:hasExactSynonym "Thoracic tumor"@en, "thorax cancer"@en, "thorax neoplasm"@en, "tumor of thorax"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5093"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thoracic cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_0060118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000915 ] ) ] . obo:DOID_5097 oboInOwl:hasExactSynonym "Axillary neoplasm"@en, "neoplasm of axilla (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5097"^^xsd:string ; a owl:Class ; rdfs:label "obsolete axillary cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5099 obo:IAO_0000115 "An ear cancer that is located_in the middle ear."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4412"^^xsd:string, "SNOMEDCT_US_2021_03_01:127006003"^^xsd:string, "UMLS_CUI:C0345617"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of middle ear"@en, "tumor of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5099"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "middle ear cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5100, obo:DOID_5101 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] ) ] . obo:DOID_5100 oboInOwl:hasDbXref "NCI:C27065"^^xsd:string, "SNOMEDCT_US_2021_03_01:155260002"^^xsd:string, "UMLS_CUI:C0271428"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5100"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] ) ] . obo:DOID_5101 oboInOwl:hasDbXref "MESH:D004428"^^xsd:string, "UMLS_CUI:C0751094"^^xsd:string ; oboInOwl:hasExactSynonym "auricular cancer"^^xsd:string, "malignant ear neoplasm"^^xsd:string, "malignant tumor of ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5101"^^xsd:string ; a owl:Class ; rdfs:label "ear cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_833 . obo:DOID_5102 obo:IAO_0000115 "An ear cancer located_in the inner ear."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39784"^^xsd:string, "UMLS_CUI:C1512779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5102"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inner ear cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2952, obo:DOID_5101 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001846 ] ) ] . obo:DOID_5104 oboInOwl:hasDbXref "NCI:C27617"^^xsd:string, "SNOMEDCT_US_2021_03_01:33793000"^^xsd:string, "UMLS_CUI:C0392041"^^xsd:string ; oboInOwl:hasExactSynonym "infarction of testis"@en, "testicular infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5104"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular infarct"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_5107 oboInOwl:hasExactSynonym "Achromic nevus (disorder)"@en, "Nonpigmented nevus"@en, "Nonpigmented nevus (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete achromic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_5112 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013540"^^xsd:string, "SNOMEDCT_US_2021_03_01:78714004"^^xsd:string, "UMLS_CUI:C0038981"^^xsd:string ; oboInOwl:hasExactSynonym "human swayback"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5112"^^xsd:string ; a owl:Class ; rdfs:label "copper deficiency myelopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_5113 obo:IAO_0000115 "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003677"^^xsd:string, "UMLS_CUI:C0011156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5113"^^xsd:string ; a owl:Class ; rdfs:label "nutritional deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_374 . obo:DOID_5115 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bovine virus diarrhea-mucosal disease"^^xsd:string ; owl:deprecated true . obo:DOID_5116 oboInOwl:hasExactSynonym "Dermoid Cyst of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5116"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system dermoid cyst"^^xsd:string ; owl:deprecated true . obo:DOID_5117 obo:IAO_0000115 "A dermoid cyst that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562731"^^xsd:string, "NCI:C3856"^^xsd:string, "OMIM:166950"^^xsd:string, "SNOMEDCT_US_2021_03_01:189116006"^^xsd:string, "UMLS_CUI:C0237020"^^xsd:string ; oboInOwl:hasExactSynonym "Dermoid cyst"@en, "Dermoid cyst of ovary"@en, "Ovarian Dermoid Cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "dermoid cyst of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112, obo:DOID_2658, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_5118 obo:IAO_0000115 "A cystic teratoma that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7283"^^xsd:string, "UMLS_CUI:C1335155"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian cystic teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6231 . obo:DOID_5119 obo:IAO_0000115 "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N83.2"^^xsd:string, "ICD9CM:620.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:198586000"^^xsd:string, "UMLS_CUI:C0029513"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5119"^^xsd:string ; a owl:Class ; rdfs:label "ovarian cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_512 oboInOwl:hasDbXref "NCI:C39958"^^xsd:string, "SNOMEDCT_US_2021_03_01:126902008"^^xsd:string, "UMLS_CUI:C0346239"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of epididymis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:512"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_5120 obo:IAO_0000115 "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5120"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Roseolovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5123 obo:IAO_0000115 "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6598"^^xsd:string, "UMLS_CUI:C1334659"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_127, obo:DOID_6175, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] . obo:DOID_5124 obo:IAO_0000115 "A fallopian tube benign neoplasm that has_material_basis in smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40127"^^xsd:string, "UMLS_CUI:C1517115"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5124"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060111, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_5125 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5855"^^xsd:string, "UMLS_CUI:C1333507"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_127, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_5126 obo:IAO_0000115 "A central nervous system benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6998"^^xsd:string, "UMLS_CUI:C1334382"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5126"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_5127 obo:IAO_0000115 "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4257"^^xsd:string, "SNOMEDCT_US_2021_03_01:48897006"^^xsd:string, "UMLS_CUI:C0334478"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical leiomyoma"@en, "Pleomorphic leiomyoma"@en, "Symplastic leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bizarre leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127 . obo:DOID_5128 obo:IAO_0000115 "A leiomyoma that is located_in deep soft tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6512"^^xsd:string, "UMLS_CUI:C1333266"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "deep leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127 . obo:DOID_5129 oboInOwl:hasDbXref "ICD9CM:345.51"^^xsd:string, "UMLS_CUI:C0154712"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5129"^^xsd:string ; a owl:Class ; rdfs:label "simple partial epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 . obo:DOID_5132 oboInOwl:hasDbXref "NCI:C4482"^^xsd:string, "SNOMEDCT_US_2021_03_01:254767008"^^xsd:string, "UMLS_CUI:C0346064"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous leiomyoma"@en, "leiomyoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leiomyoma cutis"^^xsd:string ; rdfs:subClassOf obo:DOID_2438 . obo:DOID_5133 oboInOwl:hasExactSynonym "Smooth Muscle skin neoplasm"@en, "skin tumor of smooth muscle origin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5133"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin tumor of smooth muscle origin"^^xsd:string ; owl:deprecated true . obo:DOID_5134 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5608"^^xsd:string, "UMLS_CUI:C1332266"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_4551, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] . obo:DOID_5136 obo:IAO_0000115 "A lung benign neoplasm that derives_from some smooth muscle cell."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5660"^^xsd:string, "SNOMEDCT_US_2021_03_01:707374005"^^xsd:string, "UMLS_CUI:C1334447"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5136"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_3683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_5137 obo:IAO_0000115 "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6743"^^xsd:string, "UMLS_CUI:C1335380"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of Pericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5137"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardium leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829, obo:DOID_0060091, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] . obo:DOID_5138 obo:IAO_0000115 "A leiomyoma that is multiple and diffuse."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018231"^^xsd:string, "NCI:C3748"^^xsd:string, "SNOMEDCT_US_2021_03_01:75210008"^^xsd:string, "UMLS_CUI:C0206654"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_127 . obo:DOID_5139 obo:IAO_0000115 "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4256"^^xsd:string, "SNOMEDCT_US_2021_03_01:90955001"^^xsd:string, "UMLS_CUI:C0334477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127 . obo:DOID_5140 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5747"^^xsd:string, "UMLS_CUI:C1333745"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_5142 obo:IAO_0000115 "A vulvar benign neoplasm that is located_in smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40326"^^xsd:string, "UMLS_CUI:C1520087"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5142"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109 . obo:DOID_5143 obo:IAO_0000115 "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5677"^^xsd:string, "UMLS_CUI:C1333113"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of large Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large bowel leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_4610, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000059 ] . obo:DOID_5146 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5514"^^xsd:string, "UMLS_CUI:C1332327"^^xsd:string ; oboInOwl:hasExactSynonym "Appendiceal leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_127, obo:DOID_60000, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001154 ] . obo:DOID_5147 obo:IAO_0000115 "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4483"^^xsd:string, "SNOMEDCT_US_2021_03_01:254770007"^^xsd:string, "UMLS_CUI:C0346066"^^xsd:string ; oboInOwl:hasExactSynonym "Dartoic leiomyoma"@en, "Dartoic myoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5147"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dartoic leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622 . obo:DOID_5149 oboInOwl:hasDbXref "NCI:C6558"^^xsd:string, "SNOMEDCT_US_2021_03_01:404032008"^^xsd:string, "UMLS_CUI:C1275264"^^xsd:string ; oboInOwl:hasExactSynonym "epithelioid Neurofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5149"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_5150 oboInOwl:hasDbXref "NCI:C5746"^^xsd:string, "UMLS_CUI:C1333751"^^xsd:string ; oboInOwl:hasExactSynonym "Neurofibroma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5150"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurofibroma of gallbladder"^^xsd:string ; rdfs:subClassOf obo:DOID_3121, obo:DOID_962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_962 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_5151 oboInOwl:hasDbXref "MESH:D018318"^^xsd:string, "NCI:C3797"^^xsd:string, "SNOMEDCT_US_2021_03_01:41252002"^^xsd:string, "UMLS_CUI:C0206728"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5151"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "plexiform neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_5152 oboInOwl:hasDbXref "NCI:C41427"^^xsd:string, "UMLS_CUI:C1516371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5152"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_5153 oboInOwl:hasDbXref "NCI:C41426"^^xsd:string, "SNOMEDCT_US_2021_03_01:734083001"^^xsd:string, "UMLS_CUI:C1510961"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5153"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_5154 obo:IAO_0000115 "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001890"^^xsd:string, "SNOMEDCT_US_2021_03_01:76851008"^^xsd:string, "UMLS_CUI:C0006023"^^xsd:string ; oboInOwl:hasExactSynonym "Enzootic encephalomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5154"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "borna disease"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_12455 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ; skos:exactMatch "MESH:D001890"^^xsd:string . obo:DOID_5155 oboInOwl:hasDbXref "NCI:C6559"^^xsd:string, "UMLS_CUI:C1334828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple mucosal neuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2001 . obo:DOID_5157 oboInOwl:hasDbXref "NCI:C9351"^^xsd:string, "UMLS_CUI:C1377913"^^xsd:string ; oboInOwl:hasExactSynonym "Mesothelioma of Pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign pleural mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_0060084, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ] . obo:DOID_5158 obo:IAO_0000115 "A connective tissue cancer that located_in the pleura."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9917"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C38.4"^^xsd:string, "ICD9CM:163"^^xsd:string, "MESH:D010997"^^xsd:string, "NCI:C3332"^^xsd:string, "NCI:C3547"^^xsd:string, "SNOMEDCT_US_2021_03_01:126719004"^^xsd:string, "SNOMEDCT_US_2021_03_01:363433009"^^xsd:string, "UMLS_CUI:C0032229"^^xsd:string, "UMLS_CUI:C0153494"^^xsd:string ; oboInOwl:hasExactSynonym "Pleural tumor"@en, "neoplasm of pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5158"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleural cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_201 . obo:DOID_5160 oboInOwl:hasDbXref "MESH:D001162"^^xsd:string, "SNOMEDCT_US_2021_03_01:60625000"^^xsd:string, "UMLS_CUI:C0003851"^^xsd:string ; oboInOwl:hasExactSynonym "Arteriosclerosis obliterans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5160"^^xsd:string ; a owl:Class ; rdfs:label "arteriosclerosis obliterans"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 . obo:DOID_5161 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5161"^^xsd:string ; a owl:Class ; rdfs:label "Monckeberg arteriosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 . obo:DOID_5162 obo:IAO_0000115 "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I70"^^xsd:string, "MESH:D050379"^^xsd:string, "NCI:C35543"^^xsd:string, "SNOMEDCT_US_2021_03_01:17941002"^^xsd:string, "UMLS_CUI:C0878486"^^xsd:string ; oboInOwl:hasExactSynonym "Arteriolosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5162"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arteriolosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2349 ; skos:exactMatch "MESH:D050379"^^xsd:string . obo:DOID_5165 obo:IAO_0000115 "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus."^^xsd:string ; oboInOwl:hasDbXref "GARD:9383"^^xsd:string, "NCI:C6339"^^xsd:string, "SNOMEDCT_US_2021_03_01:254877001"^^xsd:string, "UMLS_CUI:C0338113"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of Corpus Uteri"@en, "sarcoma of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_9460, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_5166 oboInOwl:hasDbXref "MESH:D036821"^^xsd:string, "SNOMEDCT_US_2021_03_01:68738004"^^xsd:string, "UMLS_CUI:C0334695"^^xsd:string ; oboInOwl:hasExactSynonym "endometrial Stromal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5166"^^xsd:string ; a owl:Class ; rdfs:label "endometrial stromal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1380 . obo:DOID_5169 obo:IAO_0000115 "An ovary sarcoma that arises from endometrial stromal tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40065"^^xsd:string, "UMLS_CUI:C4288544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrioid stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2146 . obo:DOID_5170 obo:IAO_0000115 "A vagina sarcoma that has_material_basis in endometrial stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40270"^^xsd:string, "UMLS_CUI:C3642329"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5170"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal endometrial stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1901 . obo:DOID_5171 obo:IAO_0000115 "A vaginal cancer that has_material_basis in endometrial stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40269"^^xsd:string, "UMLS_CUI:C4289585"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5171"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal endometrial stromal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_119 . obo:DOID_5172 obo:IAO_0000115 "An in situ carcinoma that is located_in the endometrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D07.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:189343006"^^xsd:string, "UMLS_CUI:C0346191"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of endometrium"@en, "endometrial carcinoma in situ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5172"^^xsd:string ; a owl:Class ; rdfs:label "endometrium carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_289, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] ) ] . obo:DOID_5176 oboInOwl:hasDbXref "NCI:C6951"^^xsd:string, "UMLS_CUI:C1335062"^^xsd:string ; oboInOwl:hasExactSynonym "Nonanaplastic renal Wilm's tumor"@en, "Nonanaplastic renal Wilm's tumour"@en, "renal Wilms' tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "nonanaplastic renal wilms tumor"@en ; oboInOwl:id "DOID:5176"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_5178 oboInOwl:hasDbXref "NCI:C38158"^^xsd:string, "UMLS_CUI:C1334705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "metachronous Wilms tumor of the kidney"@en ; oboInOwl:id "DOID:5178"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "metachronous kidney Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_5179 oboInOwl:hasDbXref "NCI:C9149"^^xsd:string, "UMLS_CUI:C0279611"^^xsd:string ; oboInOwl:hasExactSynonym "mixed cell type kidney Wilms' tumour"@en, "mixed cell type renal Wilms tumor"@en, "mixed cell type renal Wilms tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5179"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed cell type kidney Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_518 oboInOwl:hasAlternativeId "DOID:13158"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C63.2"^^xsd:string, "ICD9CM:187.7"^^xsd:string, "NCI:C3560"^^xsd:string, "NCI:C4380"^^xsd:string, "SNOMEDCT_US_2021_03_01:126905005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93999006"^^xsd:string, "UMLS_CUI:C0153604"^^xsd:string, "UMLS_CUI:C0341790"^^xsd:string ; oboInOwl:hasExactSynonym "Scrotal Ca"@en, "Scrotal tumor"@en, "malignant Scrotal neoplasm"@en, "malignant tumor of scrotum"@en, "malignant tumour of scrotum"@en, "neoplasm of scrotum"@en, "scrotum cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:518"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotum neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001300 ] ) ] . obo:DOID_5182 oboInOwl:hasDbXref "NCI:C9147"^^xsd:string, "UMLS_CUI:C0279609"^^xsd:string ; oboInOwl:hasExactSynonym "Blastema Predominant renal Wilms tumor"@en, "Blastema Predominant renal Wilms tumour"@en, "blastema predominant kidney Wilms' tumour"@en, "blastema predominant kidney adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5182"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blastema predominant kidney Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_5183 obo:IAO_0000115 "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8496"^^xsd:string, "UMLS_CUI:C0677779"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary Wilms tumor"@en, "Hereditary Wilms tumour"@en, "WT1"@en, "hereditary Wilms' tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hereditary Wilms' tumor"@en ; oboInOwl:id "DOID:5183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_5184 obo:IAO_0000115 "A nephroblastoma that recurs over time."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed renal Wilms' tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5184"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent nephroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_5185 obo:IAO_0000115 "A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted."^^xsd:string ; oboInOwl:hasExactSynonym "anaplastic renal Wilm's tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "anaplastic renal Wilms tumor"@en ; oboInOwl:id "DOID:5185"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic renal Wilms' tumor"^^xsd:string ; owl:deprecated true . obo:DOID_5189 oboInOwl:hasDbXref "NCI:C9146"^^xsd:string, "UMLS_CUI:C0279608"^^xsd:string ; oboInOwl:hasExactSynonym "epithelial Predominant renal Wilms tumor"@en, "epithelial Predominant renal Wilms tumour"@en, "epithelial predominant Wilms' tumour"@en, "epithelial predominant kidney adenosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelial predominant Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_519 oboInOwl:hasDbXref "ICD10CM:I77.6"^^xsd:string, "MESH:D001025"^^xsd:string, "NCI:C97085"^^xsd:string, "SNOMEDCT_US_2021_03_01:195368003"^^xsd:string, "UMLS_CUI:C0003509"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:519"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aortitis"^^xsd:string ; rdfs:subClassOf obo:DOID_520 . obo:DOID_5190 obo:IAO_0000115 "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40236"^^xsd:string, "UMLS_CUI:C1516437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cervical Wilms tumor"@en ; oboInOwl:id "DOID:5190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4112 . obo:DOID_5191 oboInOwl:hasDbXref "NCI:C9148"^^xsd:string, "UMLS_CUI:C0279610"^^xsd:string ; oboInOwl:hasExactSynonym "Stromal Predominant renal Wilms tumor"@en, "Stromal Predominant renal Wilms tumour"@en, "stromal predominant kidney Wilms' tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5191"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "stromal predominant kidney Wilms' tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2154 . obo:DOID_5193 oboInOwl:hasDbXref "NCI:C42058"^^xsd:string, "SNOMEDCT_US_2021_03_01:822950002"^^xsd:string, "UMLS_CUI:C1517445"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4163 . obo:DOID_5194 oboInOwl:hasDbXref "NCI:C42057"^^xsd:string, "SNOMEDCT_US_2021_03_01:822951003"^^xsd:string, "UMLS_CUI:C1517444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5194"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermixed schwannian stroma-rich ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4163 . obo:DOID_5195 oboInOwl:hasDbXref "NCI:C6594"^^xsd:string, "UMLS_CUI:C1335387"^^xsd:string ; oboInOwl:hasExactSynonym "PNS Ganglioneuroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral nervous system ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4163 . obo:DOID_5196 obo:IAO_0000115 "A fallopian tube benign neoplasm that derives_from mesothelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40129"^^xsd:string, "UMLS_CUI:C1517110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5196"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube adenomatoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060111, obo:DOID_657, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ], [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] . obo:DOID_5199 oboInOwl:hasDbXref "ICD9CM:593.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:197807001"^^xsd:string, "UMLS_CUI:C0029866"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5199"^^xsd:string ; a owl:Class ; rdfs:label "ureteral obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_5200, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] . obo:DOID_520 obo:IAO_0000115 "An artery disease that is characterized by degeneration of the cells composing the aortic wall."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001018"^^xsd:string, "NCI:C101253"^^xsd:string, "SNOMEDCT_US_2021_03_01:47040006"^^xsd:string, "UMLS_CUI:C0003493"^^xsd:string ; oboInOwl:hasExactSynonym "aortic disorder"@en, "disorder of the aorta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:520"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aortic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000947 ] ) ] . obo:DOID_5200 oboInOwl:hasDbXref "ICD10CM:N13.9"^^xsd:string, "ICD9CM:599.6"^^xsd:string, "NCI:C79805"^^xsd:string, "SNOMEDCT_US_2021_03_01:7163005"^^xsd:string, "UMLS_CUI:C0178879"^^xsd:string ; oboInOwl:hasExactSynonym "Obstructive Uropathy"@en, "urinary obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary tract obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_18 . obo:DOID_5204 obo:IAO_0000115 "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis."^^xsd:string ; oboInOwl:hasDbXref "GARD:2400"^^xsd:string, "ICD10CM:E74.19"^^xsd:string, "MESH:D015319"^^xsd:string, "NCI:C128119"^^xsd:string, "OMIM:229700"^^xsd:string, "SNOMEDCT_US_2021_03_01:28183005"^^xsd:string, "UMLS_CUI:C0016756"^^xsd:string ; oboInOwl:hasExactSynonym "fructose 1 phosphate aldolase deficiency"@en, "fructose-1,6-diphosphatase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5204"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fructose-1,6-bisphosphatase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_5205 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5205"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inborn errors fructose metabolism"^^xsd:string ; owl:deprecated true . obo:DOID_5207 obo:IAO_0000115 "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7286"^^xsd:string, "SNOMEDCT_US_2021_03_01:399632009"^^xsd:string, "UMLS_CUI:C1302569"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian Monodermal teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "monodermal teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5567 . obo:DOID_5208 obo:IAO_0000115 "A struma ovarii that is cancerous."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4291"^^xsd:string, "SNOMEDCT_US_2021_03_01:18854008"^^xsd:string, "UMLS_CUI:C0334525"^^xsd:string ; oboInOwl:hasExactSynonym "Struma ovarii, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant struma ovarii"^^xsd:string ; rdfs:subClassOf obo:DOID_2640 . obo:DOID_5209 obo:IAO_0000115 "An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40012"^^xsd:string, "UMLS_CUI:C1511104"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign struma ovarii"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_5212 obo:IAO_0000115 "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids."^^xsd:string ; oboInOwl:hasDbXref "GARD:10307"^^xsd:string, "MESH:D018981"^^xsd:string, "NCI:C84615"^^xsd:string, "OMIM:PS212065"^^xsd:string, "ORDO:137"^^xsd:string, "SNOMEDCT_US_2021_03_01:238049009"^^xsd:string, "UMLS_CUI:C0282577"^^xsd:string ; oboInOwl:hasExactSynonym "carbohydrate-deficient glycoprotein syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5212"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "congenital disorder of glycosylation"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_5213 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers."^^xsd:string ; oboInOwl:hasDbXref "GARD:6102"^^xsd:string, "ICD10CM:G61.81"^^xsd:string, "ICD9CM:357.81"^^xsd:string, "MESH:D020277"^^xsd:string, "NCI:C84636"^^xsd:string, "SNOMEDCT_US_2021_03_01:128209004"^^xsd:string, "UMLS_CUI:C0393819"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic inflammatory demyelinating polyradiculoneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033 . obo:DOID_5214 oboInOwl:hasDbXref "NCI:C27062"^^xsd:string, "SNOMEDCT_US_2021_03_01:23414001"^^xsd:string, "UMLS_CUI:C0270922"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral demyelinating neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5214"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "demyelinating polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1389 . obo:DOID_5215 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation."^^xsd:string ; oboInOwl:hasExactSynonym "Bovine ephemeral fever"@en, "Ephemeral fever of cattle"@en, "Three-Day Sickness"@en, "Three-Day Stiffsickness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ephemeral fever"^^xsd:string ; owl:deprecated true . obo:DOID_5221 oboInOwl:hasDbXref "NCI:C36071"^^xsd:string, "UMLS_CUI:C1167650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5221"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1389 . obo:DOID_5222 oboInOwl:hasDbXref "MESH:D004684"^^xsd:string, "NCI:C35383"^^xsd:string, "SNOMEDCT_US_2021_03_01:111897007"^^xsd:string, "UMLS_CUI:C0338418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5222"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute necrotizing encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9588 . obo:DOID_5223 oboInOwl:hasDbXref "MESH:D007246"^^xsd:string, "NCI:C3836"^^xsd:string, "SNOMEDCT_US_2021_03_01:8619003"^^xsd:string, "UMLS_CUI:C0021359"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infertility"^^xsd:string ; rdfs:subClassOf obo:DOID_15 . obo:DOID_5224 oboInOwl:hasDbXref "NCI:C35796"^^xsd:string, "UMLS_CUI:C1332149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute hemorrhagic encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9588 . obo:DOID_5225 oboInOwl:hasDbXref "ICD10CM:A85.8"^^xsd:string, "NCI:C26761"^^xsd:string, "SNOMEDCT_US_2021_03_01:20411005"^^xsd:string, "UMLS_CUI:C0014040"^^xsd:string ; oboInOwl:hasExactSynonym "Encephalitis lethargica"@en, "von Economo disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5225"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "von Economo's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9588 . obo:DOID_5226 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5226"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vaginal blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_5227 oboInOwl:hasExactSynonym "cellular Blue nevus of the skin"@en, "cellular blue nevus (morphologic abnormality)"@en, "cellular blue nevus of skin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5227"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cellular blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_5228 oboInOwl:hasExactSynonym "Common Blue nevus"@en, "Common blue nevus of skin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Blue nevus of Jadassohn-Tieche"@en ; oboInOwl:id "DOID:5228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete common blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_5230 oboInOwl:hasDbXref "GARD:6169"^^xsd:string, "MESH:D017121"^^xsd:string, "NCI:C84754"^^xsd:string, "ORDO:95159"^^xsd:string, "SNOMEDCT_US_2021_03_01:111386004"^^xsd:string, "UMLS_CUI:C0162569"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoerythropoietic porphyria"^^xsd:string ; rdfs:subClassOf obo:DOID_3133 . obo:DOID_5231 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peritoneal and retroperitoneal tumors"^^xsd:string ; owl:deprecated true . obo:DOID_5232 oboInOwl:hasDbXref "MESH:D001023"^^xsd:string, "UMLS_CUI:C0003505"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5232"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve prolapse"^^xsd:string ; rdfs:subClassOf obo:DOID_62 . obo:DOID_5233 oboInOwl:hasDbXref "NCI:C4221"^^xsd:string, "SNOMEDCT_US_2021_03_01:128908003"^^xsd:string, "UMLS_CUI:C1266111"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Glomus neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5233"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomangiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2431 . obo:DOID_5236 oboInOwl:hasDbXref "NCI:C36079"^^xsd:string, "SNOMEDCT_US_2021_03_01:403973004"^^xsd:string, "UMLS_CUI:C1304510"^^xsd:string ; oboInOwl:hasExactSynonym "Subungual Glomus tumor"@en, "Subungual Glomus tumour"@en, "subungual glomus tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5236"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subungual glomus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2431 . obo:DOID_5238 oboInOwl:hasDbXref "NCI:C6529"^^xsd:string, "UMLS_CUI:C1332532"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5238"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign perivascular tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060091 . obo:DOID_5239 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glomus tumor of uncertain malignant potential"^^xsd:string ; owl:deprecated true . obo:DOID_524 obo:IAO_0000115 "A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:524"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete central nervous system AIDS arteritis"^^xsd:string ; owl:deprecated true . obo:DOID_5240 oboInOwl:hasDbXref "NCI:C39783"^^xsd:string, "SNOMEDCT_US_2021_03_01:312935003"^^xsd:string, "UMLS_CUI:C0730303"^^xsd:string ; oboInOwl:hasExactSynonym "Capillary hemangioma of retina" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5240"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal hemangioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4645, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] . obo:DOID_5241 oboInOwl:hasDbXref "GARD:8232"^^xsd:string, "GARD:8522"^^xsd:string, "MESH:D018325"^^xsd:string, "NCI:C3801"^^xsd:string, "SNOMEDCT_US_2021_03_01:81201000"^^xsd:string, "UMLS_CUI:C0206734"^^xsd:string ; oboInOwl:hasExactSynonym "Capillary Hemangioblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemangioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_5242 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5242"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable cholangiocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5244 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5244"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual alteration"^^xsd:string ; owl:deprecated true . obo:DOID_5245 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cholangiocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5246 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5246"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hilar cholangiocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5247 oboInOwl:hasExactSynonym "Opisthorchis Viverrini-Related Cholangiocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5247"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liver fluke-related cholangiocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5248 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5248"^^xsd:string ; a owl:Class ; rdfs:label "obsolete parasite-related carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_525 obo:IAO_0000115 "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020293"^^xsd:string, "NCI:C84622"^^xsd:string, "UMLS_CUI:C0751878"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:525"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_865 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_5250 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5250"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-resectable cholangiocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5251 obo:IAO_0000115 "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27495"^^xsd:string, "UMLS_CUI:C1334179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5251"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inflammatory leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5252 oboInOwl:hasExactSynonym "relapsed leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leiomyosarcoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_5253 obo:IAO_0000115 "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9428"^^xsd:string, "UMLS_CUI:C1333157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5254 obo:IAO_0000115 "A leiomyosarcoma that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6999"^^xsd:string, "UMLS_CUI:C1334385"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5254"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967, obo:DOID_502 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1967 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_5255 oboInOwl:hasExactSynonym "Non-metastatic leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leiomyosarcoma nonmetastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5258 obo:IAO_0000115 "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27494"^^xsd:string, "UMLS_CUI:C1333871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granular cell leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5259 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of colon that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5494"^^xsd:string, "UMLS_CUI:C1333093"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_526 obo:IAO_0000115 "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B20"^^xsd:string, "ICD9CM:042-042.99"^^xsd:string, "MESH:D015658"^^xsd:string, "NCI:C3108"^^xsd:string, "SNOMEDCT_US_2021_03_01:86406008"^^xsd:string, "UMLS_CUI:C0019693"^^xsd:string ; oboInOwl:hasExactSynonym "HIV infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:526"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "human immunodeficiency virus infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_11676 obo:NCBITaxon_11709 obo:NCBITaxon_12721 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000007 obo:TRANS_0000011 obo:TRANS_0000012 obo:TRANS_0000013 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_5260 obo:IAO_0000115 "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5495"^^xsd:string, "UMLS_CUI:C1333098"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5260"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_219, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_5261 oboInOwl:hasDbXref "NCI:C5364"^^xsd:string, "UMLS_CUI:C1332848"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5262 . obo:DOID_5262 obo:IAO_0000115 "A sarcoma and malignant neoplasm of heart that is located_in the heart."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7723"^^xsd:string, "UMLS_CUI:C0238152"^^xsd:string ; oboInOwl:hasExactSynonym "cardiac sarcoma"@en, "sarcoma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_117 . obo:DOID_5263 obo:IAO_0000115 "An ovary sarcoma that arises from smooth muscle progenitors."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5234"^^xsd:string, "UMLS_CUI:C1335163"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5263"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5264 obo:IAO_0000115 "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007890"^^xsd:string, "NCI:C3700"^^xsd:string, "SNOMEDCT_US_2021_03_01:42392001"^^xsd:string, "UMLS_CUI:C0205815"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5264"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5265 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of lung that is located_in the lung."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5667"^^xsd:string, "UMLS_CUI:C1334448"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5265"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5266 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5266"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leiomyosarcoma metastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5267 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of the anus that is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5599"^^xsd:string, "UMLS_CUI:C1332267"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5267"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5268 obo:IAO_0000115 "A leiomyosarcoma that is characterized by abundant myxoid stroma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007890"^^xsd:string, "NCI:C3701"^^xsd:string, "SNOMEDCT_US_2021_03_01:189792003"^^xsd:string, "UMLS_CUI:C0205816"^^xsd:string ; oboInOwl:hasExactSynonym "Myxoid leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5268"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxoid leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5271 obo:IAO_0000115 "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7085"^^xsd:string, "SNOMEDCT_US_2021_03_01:716651004"^^xsd:string, "UMLS_CUI:C0920305"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the small Bowel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "smooth muscle connective tissue tumor"@en ; oboInOwl:id "DOID:5271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10154, obo:DOID_1967 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1967 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_5272 obo:IAO_0000115 "A sarcoma and malignant tumor of small intestine that is located_in the small intestine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5335"^^xsd:string, "UMLS_CUI:C1336007"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the Small Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestinal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 . obo:DOID_5273 oboInOwl:hasDbXref "NCI:C4484"^^xsd:string, "SNOMEDCT_US_2021_03_01:254771006"^^xsd:string, "UMLS_CUI:C0346067"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous leiomyosarcoma"@en, "leiomyosarcoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5273"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2687 . obo:DOID_5274 oboInOwl:hasDbXref "NCI:C4574"^^xsd:string, "SNOMEDCT_US_2021_03_01:255096006"^^xsd:string, "UMLS_CUI:C0346811"^^xsd:string ; oboInOwl:hasExactSynonym "malignant dermis tumour"@en, "malignant neoplasm of Dermis"@en, "malignant tumor of dermis"@en, "malignant tumour of dermis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5274"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant dermis tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002067 ] ) ] . obo:DOID_5275 obo:IAO_0000115 "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5841"^^xsd:string, "UMLS_CUI:C1333746"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_5276 oboInOwl:hasDbXref "NCI:C5334"^^xsd:string, "UMLS_CUI:C1333454"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of esophagus"@en, "leiomyosarcoma of oesophagus"@en, "oesophagus leiomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5276"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1114 . obo:DOID_5278 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5278"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric leiomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_528 oboInOwl:hasDbXref "ICD9CM:719.08"^^xsd:string, "SNOMEDCT_US_2021_03_01:156579009"^^xsd:string, "UMLS_CUI:C0158157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:528"^^xsd:string ; a owl:Class ; rdfs:label "hydrarthrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_5280 oboInOwl:hasDbXref "NCI:C27200"^^xsd:string, "SNOMEDCT_US_2021_03_01:447785000"^^xsd:string, "UMLS_CUI:C0744295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_5281 oboInOwl:hasExactSynonym "malignant mesenchymal neoplasm of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5281"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant mesenchymal neoplasm of the stomach"^^xsd:string ; owl:deprecated true . obo:DOID_5282 obo:IAO_0000115 "A prostate sarcoma that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5526"^^xsd:string, "UMLS_CUI:C1335511"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5282"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4054 . obo:DOID_5283 obo:IAO_0000115 "A vagina sarcoma that has_material_basis in smooth muscle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6326"^^xsd:string, "UMLS_CUI:C1336940"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5283"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagina leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1901 . obo:DOID_5284 oboInOwl:hasDbXref "NCI:C27904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5284"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_12341 . obo:DOID_5285 obo:IAO_0000115 "A breast sarcoma that arises from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5186"^^xsd:string, "UMLS_CUI:C1332631"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5285"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_5286 obo:IAO_0000115 "A vulvar sarcoma that has_material_basis in smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5286"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2096 . obo:DOID_5287 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6183"^^xsd:string, "UMLS_CUI:C1335743"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4242 . obo:DOID_5288 obo:IAO_0000115 "A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6022"^^xsd:string, "UMLS_CUI:C1334371"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5288"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5289 obo:IAO_0000115 "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6340"^^xsd:string, "SNOMEDCT_US_2021_03_01:447389009"^^xsd:string, "UMLS_CUI:C0280631"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of Corpus Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterus leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5165 . obo:DOID_529 obo:IAO_0000115 "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks."^^xsd:string ; oboInOwl:hasDbXref "GARD:5909"^^xsd:string, "ICD10CM:G24.5"^^xsd:string, "ICD9CM:333.81"^^xsd:string, "MESH:D001764"^^xsd:string, "NCI:C118723"^^xsd:string, "SNOMEDCT_US_2021_03_01:155009007"^^xsd:string, "UMLS_CUI:C0005747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:529"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blepharospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 ; skos:exactMatch "MESH:D001764"^^xsd:string . obo:DOID_5290 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5290"^^xsd:string ; a owl:Class ; rdfs:label "obsolete uterine corpus smooth muscle neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_5291 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5291"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult leiomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5292 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6619"^^xsd:string, "UMLS_CUI:C1334660"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967 . obo:DOID_5293 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5848"^^xsd:string, "UMLS_CUI:C1333508"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1967, obo:DOID_4682, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_5294 oboInOwl:hasExactSynonym "leiomyosarcoma of Vessels"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5294"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vessel leiomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5295 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the intestine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10759"^^xsd:string, "DOID:11222"^^xsd:string, "DOID:11789"^^xsd:string, "DOID:8531"^^xsd:string, "DOID:8558"^^xsd:string, "DOID:8591"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K63.9"^^xsd:string, "ICD9CM:569.9"^^xsd:string, "MESH:D007410"^^xsd:string, "NCI:C26801"^^xsd:string, "SNOMEDCT_US_2021_03_01:266483008"^^xsd:string, "UMLS_CUI:C0021831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5295"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_5296 obo:IAO_0000115 "A leiomyosarcoma and sarcoma of liver that is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5756"^^xsd:string, "UMLS_CUI:C1333969"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5296"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_270 . obo:DOID_5297 obo:IAO_0000115 "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5549"^^xsd:string, "UMLS_CUI:C1335683"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1995 . obo:DOID_5299 obo:IAO_0000115 "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8028"^^xsd:string, "UMLS_CUI:C0279765"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5299"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_53 obo:IAO_0000115 "An endocrine system disease that is located_in the pituitary gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2445"^^xsd:string, "DOID:8713"^^xsd:string, "DOID:8714"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:253.1"^^xsd:string, "UMLS_CUI:C0029493"^^xsd:string ; oboInOwl:hasExactSynonym "pituitary disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:53"^^xsd:string ; a owl:Class ; rdfs:label "pituitary gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000007 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000007 ] ) ] . obo:DOID_530 obo:IAO_0000115 "An adnexa disease that is located_in the eyelid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.9"^^xsd:string, "ICD9CM:374.9"^^xsd:string, "MESH:D005141"^^xsd:string, "NCI:C26768"^^xsd:string, "SNOMEDCT_US_2021_03_01:60113004"^^xsd:string, "UMLS_CUI:C0015423"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:530"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eyelid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] ) ] . obo:DOID_5301 obo:IAO_0000115 "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6280"^^xsd:string, "UMLS_CUI:C1333591"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of the fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5301"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3706 . obo:DOID_5302 obo:IAO_0000115 "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40139"^^xsd:string, "UMLS_CUI:C1519867"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3700, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036262 ] . obo:DOID_5303 obo:IAO_0000115 "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6344"^^xsd:string, "UMLS_CUI:C1332912"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5303"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3702, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] . obo:DOID_5304 obo:IAO_0000115 "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40078"^^xsd:string, "SNOMEDCT_US_2021_03_01:763131005"^^xsd:string, "UMLS_CUI:C1518693"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5304"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3713 . obo:DOID_5305 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5305"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant ovarian clear cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_5306 obo:IAO_0000115 "A clear cell adenocarcinoma that is located_in the bladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6179"^^xsd:string, "UMLS_CUI:C1332557"^^xsd:string ; oboInOwl:hasExactSynonym "bladder Mesonephric adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "clear cell adenocarcinoma of bladder"@en ; oboInOwl:id "DOID:5306"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_5307 obo:IAO_0000115 "A clear cell adenocarcinoma that is located_in the urethra."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6172"^^xsd:string, "UMLS_CUI:C1336886"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell adenocarcinoma of the urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4910 . obo:DOID_5308 oboInOwl:hasDbXref "NCI:C27414"^^xsd:string, "UMLS_CUI:C1332246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5308"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3502 . obo:DOID_5309 oboInOwl:hasDbXref "NCI:C4199"^^xsd:string, "SNOMEDCT_US_2021_03_01:189722008"^^xsd:string, "UMLS_CUI:C0334392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5309"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelial-myoepithelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8850 . obo:DOID_5310 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by predominantly clear cytoplasm due to glycogen."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5311"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40368"^^xsd:string, "NCI:C4153"^^xsd:string, "SNOMEDCT_US_2021_03_01:189656007"^^xsd:string, "UMLS_CUI:C0334319"^^xsd:string, "UMLS_CUI:C1512224"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen-Rich carcinoma"@en, "Glycogen-rich carcinoma"@en, "glycogen-rich carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glycogen-rich clear cell breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_5312 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete miscellaneous mesenchymal neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_5313 obo:IAO_0000115 "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40320"^^xsd:string, "UMLS_CUI:C1520069"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar alveolar soft part sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2096 . obo:DOID_5314 obo:IAO_0000115 "An alveolar soft part sarcoma that recurs over time."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed Alveolar soft Part sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5314"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alveolar soft part sarcoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_5316 obo:IAO_0000115 "An alveolar soft part sarcoma that has not spread to other parts of the body."^^xsd:string ; oboInOwl:hasExactSynonym "Non-metastatic Alveolar soft Part sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5316"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alveolar soft part sarcoma nonmetastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5317 obo:IAO_0000115 "An alveolar soft part sarcoma that has spread to other parts of the body."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5317"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alveolar soft part sarcoma metastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5323 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5323"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fallopian tube serous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_5324 obo:IAO_0000115 "A fallopian tube cancer that derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40130"^^xsd:string, "UMLS_CUI:C1517114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "fallopian tube germ cell neoplasm"@en ; oboInOwl:id "DOID:5324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1964, obo:DOID_2994, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_5325 obo:IAO_0000115 "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050536"^^xsd:string ; oboInOwl:hasDbXref "GARD:7387"^^xsd:string, "MESH:C535687"^^xsd:string, "NCI:C4681"^^xsd:string, "OMIM:268300"^^xsd:string, "ORDO:3103"^^xsd:string, "SNOMEDCT_US_2021_03_01:48718006"^^xsd:string, "UMLS_CUI:C0392475"^^xsd:string ; oboInOwl:hasExactSynonym "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE"@en, "RBS"@en, "Roberts-Sc Phocomelia Syndrome"^^xsd:string, "SC phocomelia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5325"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Roberts syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_5326 oboInOwl:hasExactSynonym "Partial recent retinal detachment with single defect (disorder)"@en, "Recent retinal detachment, partial, with single defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5326"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Partial recent retinal detachment with single defect"^^xsd:string ; owl:deprecated true . obo:DOID_5327 oboInOwl:hasDbXref "ICD10CM:H33.2"^^xsd:string, "ICD9CM:361.9"^^xsd:string, "MESH:D012163"^^xsd:string, "NCI:C26874"^^xsd:string, "SNOMEDCT_US_2021_03_01:155103005"^^xsd:string, "UMLS_CUI:C0035305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal detachment"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_5328 oboInOwl:hasExactSynonym "Retinal detachment with defect NOS (disorder)"@en, "Retinal detachment with retinal defect"@en, "Retinal detachment with retinal defect (disorder)"@en, "Retinal detachment with retinal defect, unspecified"@en, "Unspecified retinal detachment with retinal defect (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5328"^^xsd:string ; a owl:Class ; rdfs:label "obsolete retinal detachment and defect"^^xsd:string ; owl:deprecated true . obo:DOID_533 oboInOwl:hasAlternativeId "DOID:11024"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E32"^^xsd:string, "ICD9CM:254"^^xsd:string, "NCI:C26962"^^xsd:string, "SNOMEDCT_US_2021_03_01:20673009"^^xsd:string, "UMLS_CUI:C0154199"^^xsd:string ; oboInOwl:hasExactSynonym "disease of thymus gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:533"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_75 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] ) ] . obo:DOID_5330 oboInOwl:hasDbXref "MESH:D003788"^^xsd:string, "NCI:C34530"^^xsd:string, "SNOMEDCT_US_2021_03_01:57203004"^^xsd:string, "UMLS_CUI:C0011405"^^xsd:string ; oboInOwl:hasExactSynonym "Dental pulp disorder"@en, "disorder of pulp of tooth"@en, "pulp disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5330"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dental pulp disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1091, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001754 ] ) ] . obo:DOID_5331 oboInOwl:hasDbXref "NCI:C6357"^^xsd:string, "UMLS_CUI:C1336709"^^xsd:string ; oboInOwl:hasExactSynonym "Granulosa cell tumor of testis"@en, "Granulosa cell tumour of testis"@en, "testicular granulosa cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular granulosa cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2999 . obo:DOID_5334 oboInOwl:hasDbXref "ICD10CM:N47.2"^^xsd:string, "MESH:D010263"^^xsd:string, "NCI:C34893"^^xsd:string, "SNOMEDCT_US_2021_03_01:155922002"^^xsd:string, "UMLS_CUI:C0030483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5334"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paraphimosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2712 . obo:DOID_5335 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5335"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal neoplasm with t(6;11)(p21;q12)"^^xsd:string ; owl:deprecated true . obo:DOID_5337 oboInOwl:hasDbXref "MESH:D005882"^^xsd:string, "NCI:C3948"^^xsd:string, "SNOMEDCT_US_2021_03_01:71708001"^^xsd:string, "UMLS_CUI:C0266919"^^xsd:string ; oboInOwl:hasExactSynonym "Gingival polyp"@en, "epulides"@en, "polyp of Gum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5337"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epulis"^^xsd:string ; rdfs:subClassOf obo:DOID_3086 . obo:DOID_5338 oboInOwl:hasDbXref "MESH:D005886"^^xsd:string, "SNOMEDCT_US_2021_03_01:54711002"^^xsd:string, "UMLS_CUI:C0017567"^^xsd:string ; oboInOwl:hasExactSynonym "hypertrophy of gingivae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5338"^^xsd:string ; a owl:Class ; rdfs:label "gingival hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_3086 . obo:DOID_5339 oboInOwl:hasDbXref "ICD10CM:D70.4"^^xsd:string, "ICD9CM:288.02"^^xsd:string, "MESH:C536227"^^xsd:string, "NCI:C3820"^^xsd:string, "OMIM:162800"^^xsd:string, "SNOMEDCT_US_2021_03_01:69295006"^^xsd:string, "UMLS_CUI:C0221023"^^xsd:string ; oboInOwl:hasExactSynonym "Cyclic Hematopoiesis"@en, "Cyclic neutropenia"@en, "Cyclical neutropenia"@en, "Neutropenia, periodic"@en, "cyclic agranulocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cyclic hematopoiesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1227 . obo:DOID_534 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:534"^^xsd:string ; a owl:Class ; rdfs:label "obsolete persistent disorder of initiating or maintaining wakefulness"^^xsd:string ; owl:deprecated true . obo:DOID_5340 obo:IAO_0000115 "An amnestic disorder that involves the impaired or lost ability to memorize new things."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R41.1"^^xsd:string, "MESH:D020324"^^xsd:string, "SNOMEDCT_US_2021_03_01:88822006"^^xsd:string, "UMLS_CUI:C0233795"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5340"^^xsd:string ; a owl:Class ; rdfs:label "anterograde amnesia"^^xsd:string ; rdfs:subClassOf obo:DOID_10914 . obo:DOID_5341 oboInOwl:hasDbXref "NCI:C6752"^^xsd:string, "UMLS_CUI:C1335420"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal Region Yolk Sac neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5341"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1660 . obo:DOID_5342 obo:IAO_0000115 "An endodermal sinus tumor that occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27364"^^xsd:string, "UMLS_CUI:C1333016"^^xsd:string ; oboInOwl:hasExactSynonym "childhood endodermal sinus neoplasm"@en, "childhood endodermal sinus tumour"@en, "paediatric Yolk Sac tumour"@en, "pediatric Yolk Sac tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5342"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1911, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_5343 oboInOwl:hasAlternativeId "DOID:6051"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6209"^^xsd:string, "NCI:C7011"^^xsd:string, "UMLS_CUI:C1337040"^^xsd:string, "UMLS_CUI:C1377613"^^xsd:string ; oboInOwl:hasExactSynonym "Yolk Sac tumor of the CNS"@en, "Yolk Sac tumour of the CNS"@en, "central nervous system endodermal sinus tumour"@en, "childhood central nervous system endodermal sinus neoplasm"@en, "paediatric central nervous system Yolk Sac tumour"@en, "pediatric central nervous system Yolk Sac tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5343"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_5344 oboInOwl:hasDbXref "GARD:348"^^xsd:string, "NCI:C8000"^^xsd:string, "UMLS_CUI:C0279708"^^xsd:string ; oboInOwl:hasExactSynonym "testicular Yolk Sac neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5344"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5345 . obo:DOID_5345 oboInOwl:hasDbXref "NCI:C5027"^^xsd:string, "UMLS_CUI:C1334625"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Non-Seminomatous germ cell tumor of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5345"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular non-seminomatous germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5556 . obo:DOID_5346 oboInOwl:hasExactSynonym "Yolk Sac tumor of mediastinum"@en, "mediastinal endodermal sinus neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5346"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinal endodermal sinus tumor"^^xsd:string ; owl:deprecated true . obo:DOID_5347 oboInOwl:hasExactSynonym "Non-Seminomatous malignant germ cell tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5347"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinal non-seminomatous germ cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5348 obo:IAO_0000115 "An endodermal sinus tumor that occurs in adults."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27241"^^xsd:string, "UMLS_CUI:C1332221"^^xsd:string ; oboInOwl:hasExactSynonym "adult Yolk Sac neoplasm"@en, "adult endodermal sinus neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5348"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1911, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5349 oboInOwl:hasDbXref "NCI:C6285"^^xsd:string, "UMLS_CUI:C0280796"^^xsd:string ; oboInOwl:hasExactSynonym "central nervous system adult germ cell tumour"@en, "germ cell tumor of the adult CNS"@en, "germ cell tumour of the adult CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5349"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system adult germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_535 obo:IAO_0000115 "A disease of mental health that involves disruption of sleep patterns."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9028"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:307.4"^^xsd:string, "UMLS_CUI:C0154564"^^xsd:string ; oboInOwl:hasExactSynonym "Non-organic sleep disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:535"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "sleep disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_5350 obo:IAO_0000115 "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8107"^^xsd:string, "SNOMEDCT_US_2021_03_01:254876005"^^xsd:string, "UMLS_CUI:C0346188"^^xsd:string ; oboInOwl:hasExactSynonym "Endodermal sinus tumor of ovary"@en, "Endodermal sinus tumour of ovary"@en, "Ovarian Yolk Sac tumor"@en, "Ovarian Yolk Sac tumour"@en, "ovarian endodermal sinus tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5351 . obo:DOID_5351 obo:IAO_0000115 "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39986"^^xsd:string, "UMLS_CUI:C1518727"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian primitive germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2155 . obo:DOID_5353 obo:IAO_0000115 "A intestinal disease located in the colon."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10758"^^xsd:string ; oboInOwl:hasDbXref "MESH:D003108"^^xsd:string, "SNOMEDCT_US_2021_03_01:128524007"^^xsd:string, "UMLS_CUI:C0009373"^^xsd:string ; oboInOwl:hasExactSynonym "colon disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5353"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "colonic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_5354 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5354"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung PAP-AD"^^xsd:string ; owl:deprecated true . obo:DOID_5355 oboInOwl:hasExactSynonym "mucinous Bronchoalveolar lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5355"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mucinous bronchioloalveolar lung carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5358 oboInOwl:hasExactSynonym "Non-mucinous Bronchoalveolar lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5358"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-mucinous bronchioloalveolar lung carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5359 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5359"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pure BAC"^^xsd:string ; owl:deprecated true . obo:DOID_536 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:536"^^xsd:string ; a owl:Class ; rdfs:label "obsolete persistent disorder of initiating or maintaining sleep"^^xsd:string ; owl:deprecated true . obo:DOID_5360 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5360"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AD-BAC"^^xsd:string ; owl:deprecated true . obo:DOID_5361 oboInOwl:hasExactSynonym "mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5361"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5362 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017573"^^xsd:string, "NCI:C97083"^^xsd:string, "OMIM:229045"^^xsd:string, "SNOMEDCT_US_2021_03_01:36949004"^^xsd:string, "UMLS_CUI:C0206067"^^xsd:string ; oboInOwl:hasExactSynonym "Heck disease"@en, "Heck's disease"@en, "Multifocal epithelial hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5362"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "focal epithelial hyperplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_173087 ] . obo:DOID_5363 obo:IAO_0000115 "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations."^^xsd:string ; oboInOwl:hasDbXref "GARD:7157"^^xsd:string, "MESH:D018208"^^xsd:string, "OMIM:613488"^^xsd:string, "ORDO:99967"^^xsd:string, "SNOMEDCT_US_2021_03_01:404069006"^^xsd:string, "UMLS_CUI:C0206634"^^xsd:string ; oboInOwl:hasExactSynonym "Myxoid/round cell liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5363"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myxoid liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5364 oboInOwl:hasDbXref "ICD10CM:R91.1"^^xsd:string, "MESH:D003074"^^xsd:string, "SNOMEDCT_US_2021_03_01:308689002"^^xsd:string, "UMLS_CUI:C0009250"^^xsd:string ; oboInOwl:hasExactSynonym "Coin lesion lung"@en, "Coin lesion of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5364"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary coin lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_3683 . obo:DOID_5368 obo:IAO_0000115 "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40254"^^xsd:string, "UMLS_CUI:C1516419"^^xsd:string ; oboInOwl:hasExactSynonym "cervical mesonephric adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5368"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Wolffian duct adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3702, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003074 ] . obo:DOID_5369 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever."^^xsd:string ; oboInOwl:hasExactSynonym "progressive interstitial pneumonia of sheep"@en, "progressive pneumonia of sheep (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5369"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovine progressive interstitial pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_5370 obo:IAO_0000115 "A hemangiopericytoma that is manifested in the breast."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40396"^^xsd:string, "UMLS_CUI:C1511313"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5370"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_5373 oboInOwl:hasDbXref "NCI:C5386"^^xsd:string, "UMLS_CUI:C1335777"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5373"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264 . obo:DOID_5374 oboInOwl:hasAlternativeId "DOID:5377"^^xsd:string ; oboInOwl:hasDbXref "GARD:9452"^^xsd:string, "MESH:D018296"^^xsd:string, "NCI:C7368"^^xsd:string, "OMIM:132600"^^xsd:string, "SNOMEDCT_US_2021_03_01:274901004"^^xsd:string, "UMLS_CUI:C0206711"^^xsd:string ; oboInOwl:hasExactSynonym "Pilomatricoma"@en, "benign pilomatricoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5374"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pilomatrixoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5375 ; skos:exactMatch "MESH:D018296"^^xsd:string . obo:DOID_5375 oboInOwl:hasDbXref "NCI:C7367"^^xsd:string, "SNOMEDCT_US_2021_03_01:44155009"^^xsd:string, "UMLS_CUI:C0859920"^^xsd:string ; oboInOwl:hasExactSynonym "Hair Matrix neoplasm"@en, "Hair matrix tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5375"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hair follicle neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_5376 oboInOwl:hasDbXref "NCI:C4114"^^xsd:string, "SNOMEDCT_US_2021_03_01:307610008"^^xsd:string, "UMLS_CUI:C0585475"^^xsd:string ; oboInOwl:hasExactSynonym "Pilomatricoma, malignant"@en, "Pilomatrix carcinoma of skin"@en, "malignant Pilomatricoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "pilomatrix carcinoma of skin"@en ; oboInOwl:id "DOID:5376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin pilomatrix carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 . obo:DOID_5378 oboInOwl:hasDbXref "ICD10CM:D58.2"^^xsd:string, "NCI:C35344"^^xsd:string, "SNOMEDCT_US_2021_03_01:66729008"^^xsd:string, "UMLS_CUI:C0272080"^^xsd:string ; oboInOwl:hasExactSynonym "Hb-D disease"@en, "Hemoglobin D disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5378"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemoglobin D disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2860 . obo:DOID_5379 oboInOwl:hasDbXref "GARD:2641"^^xsd:string, "ICD10CM:D58.2"^^xsd:string, "NCI:C35287"^^xsd:string, "SNOMEDCT_US_2021_03_01:25065001"^^xsd:string, "UMLS_CUI:C0238159"^^xsd:string ; oboInOwl:hasExactSynonym "Hb-E disease"@en, "Hemoglobin E disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemoglobin E disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2860 . obo:DOID_538 oboInOwl:hasDbXref "ICD10CM:H51.2"^^xsd:string, "ICD9CM:378.86"^^xsd:string, "MESH:D015835"^^xsd:string, "SNOMEDCT_US_2021_03_01:49823009"^^xsd:string, "UMLS_CUI:C0152134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:538"^^xsd:string ; a owl:Class ; rdfs:label "internuclear ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_539, obo:DOID_540 . obo:DOID_5380 oboInOwl:hasExactSynonym "Lupus - tuberculous"@en, "Lupus exedens"@en, "Lupus vulgaris"@en, "Lupus vulgaris (disorder)"@en, "Tuberculosis - lupus NOS (disorder)"@en, "lupus tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5380"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete lupus vulgaris"^^xsd:string ; owl:deprecated true . obo:DOID_5381 obo:IAO_0000115 "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002759"^^xsd:string, "NCI:C2942"^^xsd:string, "SNOMEDCT_US_2021_03_01:39471001"^^xsd:string, "UMLS_CUI:C0008309"^^xsd:string ; oboInOwl:hasExactSynonym "Cholangioadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_4138, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_5382 obo:IAO_0000115 "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40299"^^xsd:string, "UMLS_CUI:C1511048"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5382"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2068, obo:DOID_60002, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] . obo:DOID_5384 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4129"^^xsd:string, "SNOMEDCT_US_2021_03_01:83025009"^^xsd:string, "UMLS_CUI:C0334285"^^xsd:string ; oboInOwl:hasExactSynonym "Cystadenoma of the bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5384"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_0060084, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_5385 obo:IAO_0000115 "An adenoma that has_material_basis_in more than one cell type."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4157"^^xsd:string, "SNOMEDCT_US_2021_03_01:89773001"^^xsd:string, "UMLS_CUI:C0334323"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5385"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_5386 obo:IAO_0000115 "A lung benign neoplasm that derives_from glandular epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4455"^^xsd:string, "SNOMEDCT_US_2021_03_01:254642004"^^xsd:string, "UMLS_CUI:C0345964"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of lung"@en, "pulmonary adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5386"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3683, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_5387 obo:IAO_0000115 "A sensory organ benign neoplasm that is located_in the middle ear."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6834"^^xsd:string, "SNOMEDCT_US_2021_03_01:734078009"^^xsd:string, "UMLS_CUI:C1334759"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of middle ear"@en ; oboInOwl:id "DOID:5387"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0080619, obo:DOID_5100, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] . obo:DOID_5389 oboInOwl:hasDbXref "MESH:D018249"^^xsd:string, "NCI:C3759"^^xsd:string, "SNOMEDCT_US_2021_03_01:89439007"^^xsd:string, "UMLS_CUI:C1510502"^^xsd:string ; oboInOwl:hasExactSynonym "Follicular adenoma, oxyphilic cell"@en, "Oncocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oxyphilic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089 . obo:DOID_539 oboInOwl:hasAlternativeId "DOID:10868"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:378.56"^^xsd:string, "MESH:D009886"^^xsd:string, "NCI:C79697"^^xsd:string, "SNOMEDCT_US_2021_03_01:16110005"^^xsd:string, "SNOMEDCT_US_2021_03_01:78097002"^^xsd:string, "UMLS_CUI:C0029089"^^xsd:string, "UMLS_CUI:C0155338"^^xsd:string ; oboInOwl:hasExactSynonym "Total ophthalmoplegia"@en, "oculomotor paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:539"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_1279 . obo:DOID_5390 obo:IAO_0000115 "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4151"^^xsd:string, "SNOMEDCT_US_2021_03_01:1752006"^^xsd:string, "UMLS_CUI:C0334315"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5390"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_5391 oboInOwl:hasDbXref "NCI:C3494"^^xsd:string, "SNOMEDCT_US_2021_03_01:24482001"^^xsd:string, "UMLS_CUI:C0149845"^^xsd:string ; oboInOwl:hasExactSynonym "Bronchial adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of the bronchus"@en ; oboInOwl:id "DOID:5391"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchus adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3906, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_5392 oboInOwl:hasDbXref "MESH:D000239"^^xsd:string, "NCI:C6780"^^xsd:string, "SNOMEDCT_US_2021_03_01:21109002"^^xsd:string, "UMLS_CUI:C0001433"^^xsd:string ; oboInOwl:hasExactSynonym "Eosinophil adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5392"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acidophil adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000771 ] . obo:DOID_5393 oboInOwl:hasDbXref "NCI:C7739"^^xsd:string, "UMLS_CUI:C0238814"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5393"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_255, obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_5394 oboInOwl:hasDbXref "GARD:4508"^^xsd:string, "MESH:D015175"^^xsd:string, "NCI:C3342"^^xsd:string, "OMIM:600634"^^xsd:string, "SNOMEDCT_US_2021_03_01:367098005"^^xsd:string, "UMLS_CUI:C0033375"^^xsd:string ; oboInOwl:hasExactSynonym "PITUITARY ADENOMA, PROLACTIN-SECRETING"@en, "Prolactinoma of Pituitary gland"@en, "familial prolactinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "prolactinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5395 . obo:DOID_5395 oboInOwl:hasDbXref "NCI:C8388"^^xsd:string, "UMLS_CUI:C0854486"^^xsd:string ; oboInOwl:hasExactSynonym "Secretory adenoma of the Pituitary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5395"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "functioning pituitary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_5396 obo:IAO_0000115 "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6272"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5962"^^xsd:string, "NCI:C7910"^^xsd:string, "UMLS_CUI:C0278863"^^xsd:string, "UMLS_CUI:C1334614"^^xsd:string ; oboInOwl:hasExactSynonym "Prolactin Secreting tumor of Pituitary"@en, "Prolactin Secreting tumour of Pituitary"@en, "Prolactin-Producing Pituitary Gland Carcinoma"@en, "malignant Prolactinoma"@en, "malignant prolactin producing neoplasm of pituitary gland"@en, "prolactin producing pituitary tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5396"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prolactin producing pituitary tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4916 . obo:DOID_5397 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5397"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ductal adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_5398 obo:IAO_0000115 "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4159"^^xsd:string, "SNOMEDCT_US_2021_03_01:22024005"^^xsd:string, "UMLS_CUI:C0334325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5398"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_5399 obo:IAO_0000115 "A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3802"^^xsd:string ; oboInOwl:hasExactSynonym "Jaagziekte (disorder)"@en, "ovine pulmonary adenomatosis"@en, "pulmonary adenomatosis"@en, "pulmonary adenomatosis (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tumor Virus Infections"@en ; oboInOwl:id "DOID:5399"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovine pulmonary adenomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_540 obo:IAO_0000115 "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H50.8"^^xsd:string, "ICD9CM:378.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:194125000"^^xsd:string, "UMLS_CUI:C0029831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:540"^^xsd:string ; a owl:Class ; rdfs:label "strabismus"^^xsd:string ; rdfs:subClassOf obo:DOID_1279, obo:DOID_9834 ; skos:exactMatch "MESH:D013285"^^xsd:string . obo:DOID_5400 oboInOwl:hasExactSynonym "Trabecular adenoma"@en, "Trabecular adenoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5400"^^xsd:string ; a owl:Class ; rdfs:label "obsolete trabecular adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_5401 obo:IAO_0000115 "An adenoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4155"^^xsd:string, "SNOMEDCT_US_2021_03_01:26638004"^^xsd:string, "UMLS_CUI:C0334321"^^xsd:string ; oboInOwl:hasExactSynonym "Water-clear cell adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "water-clear cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_5402 obo:IAO_0000115 "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40256"^^xsd:string, "UMLS_CUI:C1519913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5402"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_5403 obo:IAO_0000115 "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000236"^^xsd:string, "NCI:C3685"^^xsd:string, "SNOMEDCT_US_2021_03_01:189580001"^^xsd:string, "UMLS_CUI:C0205648"^^xsd:string ; oboInOwl:hasExactSynonym "Microcystic adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5403"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microcystic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_3918, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_5404 oboInOwl:hasExactSynonym "Atypical adenoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5404"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atypical adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_5408 obo:IAO_0000115 "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004261"^^xsd:string, "GARD:8615"^^xsd:string, "ICD10CM:M88"^^xsd:string, "MESH:D010001"^^xsd:string, "NCI:C3292"^^xsd:string, "OMIM:167250"^^xsd:string, "OMIM:602080"^^xsd:string, "OMIM:606263"^^xsd:string, "ORDO:280110"^^xsd:string, "SNOMEDCT_US_2021_03_01:2089002"^^xsd:string, "UMLS_CUI:C0029401"^^xsd:string ; oboInOwl:hasExactSynonym "Paget disease of bone"@en, "Paget's bone disease"@en, "osseous Paget's disease"@en, "osteitis deformans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Familial Paget's disease of bone"@en ; oboInOwl:id "DOID:5408"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. MESH:C538098 added from NeuroDevNet [WAK]."""^^xsd:string ; rdfs:label "Paget's disease of bone"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_205, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_5409 obo:IAO_0000115 "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050875"^^xsd:string ; oboInOwl:hasDbXref "KEGG:05222"^^xsd:string, "MESH:D055752"^^xsd:string, "NCI:C4917"^^xsd:string, "OMIM:182280"^^xsd:string, "SNOMEDCT_US_2021_03_01:254632001"^^xsd:string, "UMLS_CUI:C0149925"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5409"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lung small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_541 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:541"^^xsd:string ; a owl:Class ; rdfs:label "obsolete convergence insufficiency or palsy"^^xsd:string ; owl:deprecated true . obo:DOID_5410 oboInOwl:hasDbXref "NCI:C5670"^^xsd:string, "SNOMEDCT_US_2021_03_01:707594002"^^xsd:string, "UMLS_CUI:C1334452"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5410"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1324 . obo:DOID_5411 oboInOwl:hasDbXref "MESH:D018288"^^xsd:string, "NCI:C3915"^^xsd:string, "SNOMEDCT_US_2021_03_01:11010461000119101"^^xsd:string, "UMLS_CUI:C0262584"^^xsd:string ; oboInOwl:hasExactSynonym "Oat cell carcinoma"@en, "oat cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5411"^^xsd:string ; a owl:Class ; rdfs:label "lung oat cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5409 . obo:DOID_5414 oboInOwl:hasDbXref "NCI:C6683"^^xsd:string, "UMLS_CUI:C1335099"^^xsd:string ; oboInOwl:hasExactSynonym "Occult small cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "occult small cell carcinoma of lung"@en ; oboInOwl:id "DOID:5414"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung occult small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5409 . obo:DOID_5416 oboInOwl:hasExactSynonym "relapsed small cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5416"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent small cell lung cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5418 obo:IAO_0000115 "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F25"^^xsd:string, "ICD9CM:295.7"^^xsd:string, "MESH:D011618"^^xsd:string, "NCI:C94378"^^xsd:string, "SNOMEDCT_US_2021_03_01:231490005"^^xsd:string, "UMLS_CUI:C0036337"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5418"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizoaffective disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2468 . obo:DOID_5419 obo:IAO_0000115 "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14734"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000692"^^xsd:string, "ICD10CM:F20"^^xsd:string, "ICD9CM:295"^^xsd:string, "MESH:D012559"^^xsd:string, "NCI:C3362"^^xsd:string, "OMIM:181500"^^xsd:string, "SNOMEDCT_US_2021_03_01:58214004"^^xsd:string, "UMLS_CUI:C0036341"^^xsd:string ; oboInOwl:hasExactSynonym "schizophrenia-1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5419"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "schizophrenia"^^xsd:string ; rdfs:subClassOf obo:DOID_2468 . obo:DOID_5421 obo:IAO_0000115 "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9137"^^xsd:string, "UMLS_CUI:C1333125"^^xsd:string ; oboInOwl:hasExactSynonym "Combined small cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "combined type small cell carcinoma of lung"@en ; oboInOwl:id "DOID:5421"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung combined type small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5409 . obo:DOID_5422 oboInOwl:hasExactSynonym "Combined carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5422"^^xsd:string ; a owl:Class ; rdfs:label "obsolete combined carcinoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_5423 oboInOwl:hasExactSynonym "Hemangioblastoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system hemangioblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_5425 obo:IAO_0000115 "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016471"^^xsd:string, "OMIM:608115"^^xsd:string, "SNOMEDCT_US_2021_03_01:129635004"^^xsd:string, "UMLS_CUI:C0085083"^^xsd:string ; oboInOwl:hasExactSynonym "secondary Meig's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5425"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ovarian hyperstimulation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1100, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_5426 obo:IAO_0000115 "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E28.3"^^xsd:string, "MESH:D016649"^^xsd:string, "NCI:C113352"^^xsd:string, "OMIM:PS311360"^^xsd:string, "ORDO:619"^^xsd:string, "SNOMEDCT_US_2021_03_01:237788002"^^xsd:string, "UMLS_CUI:C0085215"^^xsd:string ; oboInOwl:hasExactSynonym "hypergonadotropic hypogonadism"@en, "premature menopause"@en, "premature ovarian failure"^^xsd:string, "premature ovarian insufficiency"@en, "primary ovarian insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5426"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary ovarian insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_5427 oboInOwl:hasDbXref "NCI:C7414"^^xsd:string, "UMLS_CUI:C1336893"^^xsd:string ; oboInOwl:hasExactSynonym "villous adenoma of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary bladder villous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_5429 oboInOwl:hasDbXref "NCI:C37266"^^xsd:string, "UMLS_CUI:C1332559"^^xsd:string ; oboInOwl:hasExactSynonym "Flat Intraepithelial Lesion of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5429"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder flat intraepithelial lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623 . obo:DOID_543 obo:IAO_0000115 "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:544"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24"^^xsd:string, "MESH:D004421"^^xsd:string, "MESH:D020821"^^xsd:string, "NCI:C34563"^^xsd:string, "OMIM:PS128100"^^xsd:string, "SNOMEDCT_US_2021_03_01:15802004"^^xsd:string, "SNOMEDCT_US_2021_03_01:250068003"^^xsd:string, "UMLS_CUI:C0013421"^^xsd:string, "UMLS_CUI:C0393593"^^xsd:string ; oboInOwl:hasExactSynonym "dystonic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:543"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_480 ; skos:exactMatch "MESH:D004421"^^xsd:string . obo:DOID_5430 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5430"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intraurothelial neoplasia"^^xsd:string ; owl:deprecated true . obo:DOID_5432 oboInOwl:hasDbXref "NCI:C39857"^^xsd:string, "UMLS_CUI:C1511197"^^xsd:string ; oboInOwl:hasExactSynonym "urinary bladder Papillary Urothelial neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder papillary transitional cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5433 . obo:DOID_5433 oboInOwl:hasAlternativeId "DOID:6120"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27883"^^xsd:string, "NCI:C6192"^^xsd:string, "SNOMEDCT_US_2021_03_01:733845009"^^xsd:string, "UMLS_CUI:C1334282"^^xsd:string, "UMLS_CUI:C1335329"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of urinary tract"@en, "Papillary transitional cell neoplasm of the urinary tract"@en, "urinary tract inverted papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary tract papillary transitional cell benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_731, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_5434 oboInOwl:hasDbXref "MESH:D012608"^^xsd:string, "SNOMEDCT_US_2021_03_01:35103004"^^xsd:string, "UMLS_CUI:C0036457"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5434"^^xsd:string ; a owl:Class ; rdfs:label "scrapie"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_5435 oboInOwl:hasDbXref "MESH:D016643"^^xsd:string, "SNOMEDCT_US_2021_03_01:52869003"^^xsd:string, "UMLS_CUI:C0085209"^^xsd:string ; oboInOwl:hasExactSynonym "Bovine spongiform encephalopathy"@en, "bovine spongiform encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5435"^^xsd:string ; a owl:Class ; rdfs:label "variant Creutzfeldt-Jakob disease"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_5437 oboInOwl:hasDbXref "NCI:C7126"^^xsd:string, "UMLS_CUI:C1331535"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the Intrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of intrahepatic bile duct"@en ; oboInOwl:id "DOID:5437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intrahepatic bile duct adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5381, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003704 ] . obo:DOID_5438 obo:IAO_0000115 "A bile duct ademona that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5857"^^xsd:string, "UMLS_CUI:C1331534"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of extrahepatic bile duct"@en ; oboInOwl:id "DOID:5438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5381, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_5439 oboInOwl:hasDbXref "MESH:D000074009"^^xsd:string, "NCI:C4171"^^xsd:string, "SNOMEDCT_US_2021_03_01:89791006"^^xsd:string, "UMLS_CUI:C0334348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5439"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary hidradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3896 . obo:DOID_5442 oboInOwl:hasDbXref "MESH:D018250"^^xsd:string, "NCI:C7568"^^xsd:string, "SNOMEDCT_US_2021_03_01:254719003"^^xsd:string, "UMLS_CUI:C0206671"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine acrospiroma"@en, "Eccrine hidradenoma"@en, "Eccrine hidradenoma of skin"@en, "Poroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5442"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine acrospiroma"^^xsd:string ; rdfs:subClassOf obo:DOID_173 . obo:DOID_5443 oboInOwl:hasDbXref "NCI:C7567"^^xsd:string, "SNOMEDCT_US_2021_03_01:254719003"^^xsd:string, "UMLS_CUI:C1370701"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell Hidradenoma"@en, "Clear cell hidradenoma"@en, "Clear cell myoepithelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5443"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell hidradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3896 . obo:DOID_5444 oboInOwl:hasAlternativeId "DOID:1617"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4170"^^xsd:string, "SNOMEDCT_US_2021_03_01:403938001"^^xsd:string, "UMLS_CUI:C0334347"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine spiradenoma"@en, "Eccrine spiradenoma of skin"@en, "benign eccrine spiradenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5444"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spiradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5876 . obo:DOID_5445 oboInOwl:hasDbXref "GARD:5100"^^xsd:string, "MESH:D000074009"^^xsd:string, "NCI:C4172"^^xsd:string, "SNOMEDCT_US_2021_03_01:8934006"^^xsd:string, "UMLS_CUI:C0406803"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary Syringadenoma"@en, "Papillary syringadenoma"@en, "Syringocystadenoma papilliferum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syringocystadenoma papilliferum"^^xsd:string ; rdfs:subClassOf obo:DOID_5876 . obo:DOID_5446 obo:IAO_0000115 "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time."^^xsd:string ; oboInOwl:hasDbXref "GARD:10463"^^xsd:string, "NCI:C4173"^^xsd:string, "SNOMEDCT_US_2021_03_01:253021007"^^xsd:string, "UMLS_CUI:C0334350"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine papillary adenoma of skin"@en, "papillary eccrine adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5446"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine papillary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_173, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_5453 oboInOwl:hasDbXref "GARD:10153"^^xsd:string, "MESH:D011668"^^xsd:string, "NCI:C85039"^^xsd:string, "OMIM:265450"^^xsd:string, "SNOMEDCT_US_2021_03_01:89420002"^^xsd:string, "UMLS_CUI:C0034091"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary veno-occlusive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5453"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pulmonary venoocclusive disease"^^xsd:string ; rdfs:subClassOf obo:DOID_6432 . obo:DOID_5455 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5455"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_5456 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5456"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinal vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_5457 oboInOwl:hasDbXref "NCI:C6023"^^xsd:string, "SNOMEDCT_US_2021_03_01:707625001"^^xsd:string, "UMLS_CUI:C1334374"^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal neuroendocrine tumour"@en, "neuroendocrine tumor of Larynx"@en, "neuroendocrine tumour of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5457"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2598 . obo:DOID_5460 obo:IAO_0000115 "A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5460"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete contagious pleuropneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_5461 oboInOwl:hasExactSynonym "Eaton's agent infection (disorder)"@en, "Mycoplasma infection (disorder)"@en, "Mycoplasma infection with Eaton's agent"@en, "Mycoplasma infection, unspecified (disorder)"@en, "Mycoplasmosis (disorder)"@en, "disease caused by Mycoplasma [Ambiguous]"@en, "disease caused by Mycoplasma, NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5461"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycoplasma infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5462 obo:IAO_0000115 "A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia."^^xsd:string ; oboInOwl:hasExactSynonym "African swine fever"@en, "African swine fever (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "swine hemorrhagic fever"@en ; oboInOwl:id "DOID:5462"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete African swine fever"^^xsd:string ; owl:deprecated true . obo:DOID_5463 oboInOwl:hasDbXref "MESH:D015834"^^xsd:string, "UMLS_CUI:C0009197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5463"^^xsd:string ; a owl:Class ; rdfs:label "cochlear disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_5465 obo:IAO_0000115 "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6120"^^xsd:string, "SNOMEDCT_US_2021_03_01:418134006"^^xsd:string, "UMLS_CUI:C1333148"^^xsd:string ; oboInOwl:hasExactSynonym "Intraepithelial Neoplasia of Conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5465"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival intraepithelial neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060071, obo:DOID_4251 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060071 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] ) ] . obo:DOID_5467 oboInOwl:hasAlternativeId "DOID:1750"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.0"^^xsd:string, "ICD9CM:190.3"^^xsd:string, "MESH:D003230"^^xsd:string, "NCI:C2961"^^xsd:string, "NCI:C3564"^^xsd:string, "SNOMEDCT_US_2021_03_01:126996004"^^xsd:string, "SNOMEDCT_US_2021_03_01:93764002"^^xsd:string, "UMLS_CUI:C0009761"^^xsd:string, "UMLS_CUI:C0153628"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival tumor"@en, "malignant Conjunctival tumor"@en, "malignant neoplasm of conjunctiva"@en, "malignant tumor of conjunctiva"@en, "neoplasm of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5467"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2174, obo:DOID_4251 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] ) ] . obo:DOID_5468 obo:IAO_0000115 "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree."^^xsd:string ; oboInOwl:hasDbXref "NCI:C65198"^^xsd:string, "SNOMEDCT_US_2021_03_01:128663007"^^xsd:string, "UMLS_CUI:C1266038"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct papillomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5468"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "biliary papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_5469 oboInOwl:hasDbXref "NCI:C37215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "biliary tract intraductal papillary mucinous neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625 . obo:DOID_5472 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5472"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tumor of the thecoma fibroma group"^^xsd:string ; owl:deprecated true . obo:DOID_5474 obo:IAO_0000115 "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40031"^^xsd:string, "UMLS_CUI:C1518729"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5474"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian serous adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_5475 obo:IAO_0000115 "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6337"^^xsd:string, "UMLS_CUI:C1336901"^^xsd:string ; oboInOwl:hasExactSynonym "adenofibroma of Corpus Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenofibroma of uterine corpus"@en ; oboInOwl:id "DOID:5475"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_2683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000499 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_5476 obo:IAO_0000115 "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40230"^^xsd:string, "UMLS_CUI:C1516402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060110 . obo:DOID_5477 obo:IAO_0000115 "An adenofibroma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "MESH:D062625"^^xsd:string, "NCI:C8985"^^xsd:string, "SNOMEDCT_US_2021_03_01:2962009"^^xsd:string, "UMLS_CUI:C0334317"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell adenofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2683 . obo:DOID_5478 obo:IAO_0000115 "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40113"^^xsd:string, "UMLS_CUI:C1517109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5478"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060111, obo:DOID_2683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000499 ] . obo:DOID_5479 obo:IAO_0000115 "An adenofibroma that is characterized by finger-like projections on histology."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8986"^^xsd:string, "SNOMEDCT_US_2021_03_01:2962009"^^xsd:string, "UMLS_CUI:C1377850"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5479"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2683 . obo:DOID_548 oboInOwl:hasExactSynonym "malignant hypertensive heart disease (disorder)"@en, "malignant hypertensive heart disease NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:548"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant hypertensive heart disease"^^xsd:string ; owl:deprecated true . obo:DOID_5480 obo:IAO_0000115 "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27287"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrioid adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_5482 obo:IAO_0000115 "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D062625"^^xsd:string, "NCI:C8985"^^xsd:string, "SNOMEDCT_US_2021_03_01:2962009"^^xsd:string, "UMLS_CUI:C0334317"^^xsd:string ; oboInOwl:hasExactSynonym "Cystadenofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112, obo:DOID_2683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000499 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_2000064 ] . obo:DOID_5484 oboInOwl:hasDbXref "NCI:C6533"^^xsd:string, "UMLS_CUI:C1333616"^^xsd:string ; oboInOwl:hasExactSynonym "fibrous sarcoma of Synovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5484"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrous synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5485 obo:IAO_0000115 "A synovium cancer which develops in the synovial membrane of the joints."^^xsd:string ; oboInOwl:hasDbXref "GARD:7721"^^xsd:string, "MESH:D013584"^^xsd:string, "NCI:C3400"^^xsd:string, "OMIM:300813"^^xsd:string, "SNOMEDCT_US_2021_03_01:63211008"^^xsd:string, "UMLS_CUI:C0039101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5485"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2706 . obo:DOID_5486 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5486"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5487 oboInOwl:hasDbXref "NCI:C4277"^^xsd:string, "SNOMEDCT_US_2021_03_01:37206003"^^xsd:string, "UMLS_CUI:C0334505"^^xsd:string ; oboInOwl:hasExactSynonym "Synovial sarcoma with spindle cell Components"@en, "Synovial sarcoma, monophasic fibrous"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5487"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5488 obo:IAO_0000115 "A synovial sarcoma that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6618"^^xsd:string, "UMLS_CUI:C1334681"^^xsd:string ; oboInOwl:hasExactSynonym "Synovial sarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5489 obo:IAO_0000115 "An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5491 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5491"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5492 oboInOwl:hasDbXref "NCI:C4279"^^xsd:string, "SNOMEDCT_US_2021_03_01:18588008"^^xsd:string, "UMLS_CUI:C0334507"^^xsd:string ; oboInOwl:hasExactSynonym "Biphasic sarcoma of Synovium"@en, "Synovial sarcoma, biphasic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5492"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "biphasic synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5493 oboInOwl:hasExactSynonym "relapsed Synovial sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5493"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5494 oboInOwl:hasDbXref "NCI:C4278"^^xsd:string, "SNOMEDCT_US_2021_03_01:56422000"^^xsd:string, "UMLS_CUI:C0334506"^^xsd:string ; oboInOwl:hasExactSynonym "Synovial sarcoma, epithelioid cell"@en, "epithelioid Synovial sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5494"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid cell synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5495 oboInOwl:hasDbXref "NCI:C6534"^^xsd:string, "UMLS_CUI:C1334801"^^xsd:string ; oboInOwl:hasExactSynonym "Monophasic sarcoma of Synovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5495"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "monophasic synovial sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5485 . obo:DOID_5496 oboInOwl:hasExactSynonym "Non-metastatic Synovial sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5496"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonmetastatic synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5497 obo:IAO_0000115 "A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5497"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hepadnaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5500 oboInOwl:hasDbXref "MESH:D004806"^^xsd:string, "NCI:C4713"^^xsd:string, "SNOMEDCT_US_2021_03_01:253067007"^^xsd:string, "UMLS_CUI:C1384403"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_5501 obo:IAO_0000115 "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B85.0"^^xsd:string, "ICD9CM:132.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:81000006"^^xsd:string, "UMLS_CUI:C0030757"^^xsd:string ; oboInOwl:hasExactSynonym "Pediculosis capitis"@en, "Pediculus capitis"@en, "Pediculus capitis infestation"@en, "head louse infestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5501"^^xsd:string ; a owl:Class ; rdfs:label "Pediculus humanus capitis infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_5502, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000654 ] . obo:DOID_5502 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5490"^^xsd:string, "DOID:5523"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B85.2"^^xsd:string, "ICD9CM:132.9"^^xsd:string, "MESH:D010373"^^xsd:string, "NCI:C128401"^^xsd:string, "SNOMEDCT_US_2021_03_01:74949007"^^xsd:string, "UMLS_CUI:C0030756"^^xsd:string ; oboInOwl:hasExactSynonym "Infestation by Pediculus"@en, "Lice infestation"@en, "Louse infestation"@en, "Pediculosis + lice"@en, "Pediculosis and phthirus infection"@en, "Pediculosis and phthirus infections"@en, "Pediculosis and phthirus infestation"@en, "mixed pediculosis"@en, "mixed pediculosis infestation"@en, "pediculosis"@en, "pediculosis and phthirus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5502"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lice infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_4110, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_5503 obo:IAO_0000115 "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3875"^^xsd:string, "SNOMEDCT_US_2021_03_01:254949006"^^xsd:string, "UMLS_CUI:C0238432"^^xsd:string ; oboInOwl:hasExactSynonym "Ependymal neoplasm of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5503"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3185, obo:DOID_5074, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_5504 oboInOwl:hasDbXref "NCI:C6903"^^xsd:string, "SNOMEDCT_US_2021_03_01:57706008"^^xsd:string, "UMLS_CUI:C1370500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tanycytic ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_5505 oboInOwl:hasDbXref "MESH:D004806"^^xsd:string, "NCI:C4319"^^xsd:string, "SNOMEDCT_US_2021_03_01:112686007"^^xsd:string, "UMLS_CUI:C0334578"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5505"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_5507 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5507"^^xsd:string ; a owl:Class ; rdfs:label "clear cell ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4844 . obo:DOID_5508 obo:IAO_0000115 "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5098"^^xsd:string, "SNOMEDCT_US_2021_03_01:107561000119107"^^xsd:string, "UMLS_CUI:C1332609"^^xsd:string ; oboInOwl:hasExactSynonym "Ependymoma of the Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5508"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain stem ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3185, obo:DOID_5074, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_5509 oboInOwl:hasDbXref "NCI:C8578"^^xsd:string ; oboInOwl:hasExactSynonym "childhood ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5509"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5074, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_551 obo:IAO_0000115 "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:549"^^xsd:string, "DOID:550"^^xsd:string, "DOID:553"^^xsd:string, "DOID:554"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:506.9"^^xsd:string, "UMLS_CUI:C0041881"^^xsd:string ; oboInOwl:hasExactSynonym "acute chemical fume pulmonary edema"@en, "acute chemical pulmonary edema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:551"^^xsd:string ; a owl:Class ; rdfs:label "toxic pneumonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_5510 oboInOwl:hasDbXref "NCI:C7169"^^xsd:string, "UMLS_CUI:C1335415"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5510"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal dysgerminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1660 . obo:DOID_5511 obo:IAO_0000115 "A dysgerminoma that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8106"^^xsd:string, "SNOMEDCT_US_2021_03_01:254874008"^^xsd:string, "UMLS_CUI:C0346185"^^xsd:string ; oboInOwl:hasExactSynonym "Dysgerminoma of ovary"@en, "Ovarian Dysgerminoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5511"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysgerminoma of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_4441 . obo:DOID_5513 obo:IAO_0000115 "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B85.1"^^xsd:string, "ICD9CM:132.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:25188002"^^xsd:string, "UMLS_CUI:C0030758"^^xsd:string ; oboInOwl:hasExactSynonym "Pediculus corporis"@en, "Pediculus humanus infestation"@en, "body louse infestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5513"^^xsd:string ; a owl:Class ; rdfs:label "Pediculus humanus corporis infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_5502, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_5514 obo:IAO_0000115 "A breast metaplastic carcinoma that arises from squamous epithelial cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7300"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5177"^^xsd:string, "UMLS_CUI:C1336079"^^xsd:string ; oboInOwl:hasExactSynonym "SCC of breast"@en, "breast primary squamous cell carcinoma"@en, "primary squamous cell carcinoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "primary squamous cell carcinoma of breast"@en, "squamous cell carcinoma of breast"@en ; oboInOwl:id "DOID:5514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4680, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5515 obo:IAO_0000115 "A nasal cavity carcinoma that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000077195"^^xsd:string, "NCI:C8192"^^xsd:string, "UMLS_CUI:C0280333"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of nasal cavity"@en ; oboInOwl:id "DOID:5515"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10811, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] . obo:DOID_5516 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the stomach."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5475"^^xsd:string, "SNOMEDCT_US_2021_03_01:766980008"^^xsd:string, "UMLS_CUI:C1333789"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5516"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5517 obo:IAO_0000115 "A stomach cancer that is located_in the stomach."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000178"^^xsd:string, "NCI:C4911"^^xsd:string, "SNOMEDCT_US_2021_03_01:154446008"^^xsd:string, "UMLS_CUI:C0699791"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of the stomach"@en, "carcinoma of stomach"@en, "gastric carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5517"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "stomach carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10534, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_5518 obo:IAO_0000115 "A penis carcinoma that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8008"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6979"^^xsd:string, "NCI:C7729"^^xsd:string, "SNOMEDCT_US_2021_03_01:403468003"^^xsd:string, "UMLS_CUI:C0238348"^^xsd:string, "UMLS_CUI:C1336081"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid cell carcinoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of penis"@en ; oboInOwl:id "DOID:5518"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3449, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5519 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5490"^^xsd:string, "SNOMEDCT_US_2021_03_01:766981007"^^xsd:string, "UMLS_CUI:C1333100"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of colon"@en ; oboInOwl:id "DOID:5519"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1520, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_552 obo:IAO_0000115 "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10509"^^xsd:string, "DOID:11742"^^xsd:string, "DOID:5871"^^xsd:string ; oboInOwl:hasDbXref "MESH:D011014"^^xsd:string, "NCI:C3333"^^xsd:string, "SNOMEDCT_US_2021_03_01:266391003"^^xsd:string, "UMLS_CUI:C0032285"^^xsd:string ; oboInOwl:hasExactSynonym "acute pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:552"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_5520 obo:IAO_0000115 "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck."^^xsd:string ; oboInOwl:hasDbXref "GARD:8503"^^xsd:string, "MESH:D000077195"^^xsd:string, "NCI:C34447"^^xsd:string, "OMIM:275355"^^xsd:string, "SNOMEDCT_US_2021_03_01:716659002"^^xsd:string, "UMLS_CUI:C1168401"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the head and neck"@en, "squamous cell carcinoma of the head and neck"@en, "squamous cell carcinomas of head and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5520"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "head and neck squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1542, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5521 obo:IAO_0000115 "A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4105"^^xsd:string, "SNOMEDCT_US_2021_03_01:18048008"^^xsd:string, "UMLS_CUI:C0334247"^^xsd:string ; oboInOwl:hasExactSynonym "Keratinizing squamous cell carcinoma"@en, "keratinizing epidermoid carcinoma"@en, "squamous cell carcinoma, keratinizing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratinizing squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749 . obo:DOID_5522 obo:IAO_0000115 "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C54244"^^xsd:string, "SNOMEDCT_US_2021_03_01:128634009"^^xsd:string, "UMLS_CUI:C1266005"^^xsd:string ; oboInOwl:hasExactSynonym "Basaloid carcinoma"@en, "Basaloid squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basaloid squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2513, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000646 ] ) ] ) ] . obo:DOID_5524 obo:IAO_0000115 "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6593"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4200"^^xsd:string, "SNOMEDCT_US_2021_03_01:15176003"^^xsd:string, "SNOMEDCT_US_2021_03_01:85956000"^^xsd:string, "UMLS_CUI:C0334250"^^xsd:string, "UMLS_CUI:C0334393"^^xsd:string ; oboInOwl:hasExactSynonym "Acantholytic squamous cell carcinoma"@en, "Pseudoglandular squamous carcinoma"@en, "adenoacanthoma"@en, "adenocarcinoma with squamous metaplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5524"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenoid squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001732 ] . obo:DOID_5525 obo:IAO_0000115 "An anal carcinoma that arises near the squamocolumnar junction."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9161"^^xsd:string, "SNOMEDCT_US_2021_03_01:255084004"^^xsd:string, "UMLS_CUI:C1412036"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid anal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5525"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4908, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5526 obo:IAO_0000115 "A middle ear carcinoma that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6086"^^xsd:string, "UMLS_CUI:C1334762"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of middle ear"@en ; oboInOwl:id "DOID:5526"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4893, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5527 obo:IAO_0000115 "An ampulla of Vater carcinoma that derives_from epithelial squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27417"^^xsd:string, "UMLS_CUI:C1332251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5527"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4932, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5528 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5554"^^xsd:string, "SNOMEDCT_US_2021_03_01:766979005"^^xsd:string, "UMLS_CUI:C1335690"^^xsd:string ; oboInOwl:hasExactSynonym "squamous carcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of the rectum"@en ; oboInOwl:id "DOID:5528"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_1993, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] . obo:DOID_5529 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the lacrimal gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6092"^^xsd:string, "UMLS_CUI:C1334360"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of lacrimal gland"@en ; oboInOwl:id "DOID:5529"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal gland squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_293, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5530 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the thymus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6455"^^xsd:string, "UMLS_CUI:C1336082"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid Thymic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5530"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3284, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_5531 obo:IAO_0000115 "An ovarian carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2394, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_5532 obo:IAO_0000115 "An ovary epithelial cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40092"^^xsd:string, "UMLS_CUI:C1518739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5532"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian squamous cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2152 . obo:DOID_5533 obo:IAO_0000115 "An endometrial carcinoma that has_material_basis in squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8719"^^xsd:string, "SNOMEDCT_US_2021_03_01:733359005"^^xsd:string, "UMLS_CUI:C1333396"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5533"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2871, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5534 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the renal pelvis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7732"^^xsd:string, "UMLS_CUI:C0238409"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the kidney Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of renal pelvis"@en ; oboInOwl:id "DOID:5534"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4919, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001224 ] . obo:DOID_5535 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9170"^^xsd:string, "UMLS_CUI:C0279658"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid gallbladder carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of the gallbladder"@en ; oboInOwl:id "DOID:5535"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4948, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5536 oboInOwl:hasDbXref "NCI:C27084"^^xsd:string, "SNOMEDCT_US_2021_03_01:10288008"^^xsd:string, "UMLS_CUI:C0349656"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell (sarcomatoid) squamous cell carcinoma"@en, "spindle cell (sarcomatoid) squamous cell skin carcinoma"@en, "spindle cell squamous carcinoma of skin"@en, "spindle cell squamous cell carcinoma"@en, "squamous cell carcinoma, sarcomatoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5536"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid squamous cell skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_5537 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5777"^^xsd:string, "UMLS_CUI:C0861861"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5537"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous cell bile duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4897, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_5538 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the external ear."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6083"^^xsd:string, "UMLS_CUI:C1333494"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the External ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of external ear"@en ; oboInOwl:id "DOID:5538"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external ear squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4288, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5539 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the ureter."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6154"^^xsd:string, "UMLS_CUI:C1336879"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5539"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4939, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5540 obo:IAO_0000115 "A fallopian tube carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6282"^^xsd:string, "UMLS_CUI:C1333596"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of the fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_1963, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5545 oboInOwl:hasDbXref "NCI:C5603"^^xsd:string, "UMLS_CUI:C1332273"^^xsd:string ; oboInOwl:hasExactSynonym "anal neuroendocrine tumour"@en, "neuroendocrine tumor of anus"@en, "neuroendocrine tumour of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5545"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4551 . obo:DOID_5546 obo:IAO_0000115 "A bone cancer that is located_in the femur."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005266"^^xsd:string, "SNOMEDCT_US_2021_03_01:126583006"^^xsd:string, "UMLS_CUI:C0015807"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of femur"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "femoral neoplasm"@en ; oboInOwl:id "DOID:5546"^^xsd:string ; a owl:Class ; rdfs:label "femoral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_5547 obo:IAO_0000115 "A choriocarcinoma that is located_in the pulmonary artery."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5381"^^xsd:string, "UMLS_CUI:C1335571"^^xsd:string ; oboInOwl:hasExactSynonym "Syncytioma of pulmonary artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5547"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary artery choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1324, obo:DOID_175, obo:DOID_3594, obo:DOID_60001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3594 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002012 ] ) ] . obo:DOID_5549 oboInOwl:hasExactSynonym "Choriocarcinoma of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete CNS choriocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5550 obo:IAO_0000115 "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4515"^^xsd:string, "SNOMEDCT_US_2021_03_01:254870004"^^xsd:string, "UMLS_CUI:C0346181"^^xsd:string ; oboInOwl:hasExactSynonym "Choriocarcinoma of ovary"@en, "Ovarian Choriocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5550"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choriocarcinoma of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_2155, obo:DOID_3594 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3594 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_5551 obo:IAO_0000115 "A choriocarcinoma that is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7733"^^xsd:string, "SNOMEDCT_US_2021_03_01:147371000119101"^^xsd:string, "UMLS_CUI:C0238449"^^xsd:string ; oboInOwl:hasExactSynonym "testicular Choriocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5551"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choriocarcinoma of the testis"^^xsd:string ; rdfs:subClassOf obo:DOID_3594 . obo:DOID_5552 oboInOwl:hasExactSynonym "Choriocarcinoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5552"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinum choriocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5553 oboInOwl:hasDbXref "NCI:C6759"^^xsd:string, "UMLS_CUI:C1335414"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal Choriocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5553"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1660 . obo:DOID_5556 oboInOwl:hasDbXref "NCI:C9063"^^xsd:string, "SNOMEDCT_US_2021_03_01:713646001"^^xsd:string, "UMLS_CUI:C0855197"^^xsd:string ; oboInOwl:hasExactSynonym "malignant germ cell tumor of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5556"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular malignant germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5557 . obo:DOID_5557 obo:IAO_0000115 "A testicular cancer that has_material_basis_in germ cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563236"^^xsd:string, "NCI:C8591"^^xsd:string, "OMIM:273300"^^xsd:string, "OMIM:300228"^^xsd:string, "ORDO:3636504"^^xsd:string, "SNOMEDCT_US_2021_03_01:713577007"^^xsd:string, "UMLS_CUI:C1336708"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell tumor of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "testicular germ cell neoplasm"@en ; oboInOwl:id "DOID:5557"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "testicular germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_5559 obo:IAO_0000115 "A thoracic cancer that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9914"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C38.3"^^xsd:string, "ICD9CM:164.9"^^xsd:string, "MESH:D008479"^^xsd:string, "NCI:C3221"^^xsd:string, "NCI:C3549"^^xsd:string, "SNOMEDCT_US_2021_03_01:363494000"^^xsd:string, "SNOMEDCT_US_2021_03_01:94147001"^^xsd:string, "UMLS_CUI:C0025063"^^xsd:string, "UMLS_CUI:C0153504"^^xsd:string ; oboInOwl:hasExactSynonym "Tumour of mediastinum"@en, "mediastinal tumor"@en, "mediastinum cancer"@en, "neoplasm of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5559"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "mediastinal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5093 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] ) ] . obo:DOID_5560 oboInOwl:hasDbXref "NCI:C6637"^^xsd:string, "UMLS_CUI:C1334669"^^xsd:string ; oboInOwl:hasExactSynonym "mediastinal mesenchymal tumour"@en, "soft tissue tumor of mediastinum"@en, "soft tissue tumour of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5560"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal mesenchymal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5559 . obo:DOID_5561 obo:IAO_0000115 "A teratoma that is located_in the stomach or other gastric tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5259"^^xsd:string, "UMLS_CUI:C1333790"^^xsd:string ; oboInOwl:hasExactSynonym "teratoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5561"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10534, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_5562 oboInOwl:hasExactSynonym "Dermoid cyst with malignant transformation (morphologic abnormality)"@en, "teratoma with malignant Transformation"@en, "teratoma with malignant transformation (morphologic abnormality)"@en, "teratoma with malignant transformation [dup] (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5562"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dermoid cyst with malignant transformation"^^xsd:string ; owl:deprecated true . obo:DOID_5563 obo:IAO_0000115 "A teratoma that is cancerous."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6106"^^xsd:string ; oboInOwl:hasDbXref "ICDO:M9080/3"^^xsd:string, "MESH:D013724"^^xsd:string, "NCI:C4286"^^xsd:string, "NCI:C8884"^^xsd:string, "SNOMEDCT_US_2021_03_01:189847002"^^xsd:string, "UMLS_CUI:C0334520"^^xsd:string, "UMLS_CUI:C0855163"^^xsd:string ; oboInOwl:hasExactSynonym "Immature teratoma"@en, "Teratoma, malignant, NOS"@en, "malignant Extragonadal teratoma"@en, "primary malignant extragonadal teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5563"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3307 . obo:DOID_5564 obo:IAO_0000115 "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40131"^^xsd:string, "UMLS_CUI:C1517127"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5564"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1964, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] . obo:DOID_5565 obo:IAO_0000115 "A benign teratoma that is present in an adult."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9013"^^xsd:string, "SNOMEDCT_US_2021_03_01:42717009"^^xsd:string, "UMLS_CUI:C1368898"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5565"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080602, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5566 obo:IAO_0000115 "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9015"^^xsd:string, "SNOMEDCT_US_2021_03_01:55818009"^^xsd:string, "UMLS_CUI:C1368910"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5566"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3307 . obo:DOID_5567 oboInOwl:hasDbXref "NCI:C8110"^^xsd:string, "SNOMEDCT_US_2021_03_01:716077006"^^xsd:string, "UMLS_CUI:C0280131"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell teratoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5567"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian germ cell teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2156 . obo:DOID_5568 obo:IAO_0000115 "A teratoma that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6438"^^xsd:string, "UMLS_CUI:C1334682"^^xsd:string ; oboInOwl:hasExactSynonym "teratoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5568"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5559, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] . obo:DOID_5569 oboInOwl:hasExactSynonym "Microcystic Adnexal carcinoma"@en, "Microcystic adnexal carcinoma of skin"@en, "Syringomatous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5569"^^xsd:string ; a owl:Class ; rdfs:label "malignant syringoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4921 . obo:DOID_557 obo:IAO_0000115 "A urinary system disease that is located_in the kidney."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11705"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003086"^^xsd:string, "ICD10CM:N08"^^xsd:string, "MESH:D007674"^^xsd:string, "NCI:C3149"^^xsd:string, "SNOMEDCT_US_2021_03_01:266612003"^^xsd:string, "UMLS_CUI:C0022658"^^xsd:string ; oboInOwl:hasExactSynonym "impaired renal function disease"^^xsd:string, "nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:557"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_5570 oboInOwl:hasDbXref "NCI:C43345"^^xsd:string, "SNOMEDCT_US_2021_03_01:403939009"^^xsd:string, "UMLS_CUI:C1260964"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine ductal carcinoma"@en, "Eccrine ductal carcinoma of skin"@en, "anaplastic syringoma"@en, "malignant Acrospiroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5570"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant acrospiroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2095 . obo:DOID_5572 obo:IAO_0000115 "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations."^^xsd:string ; oboInOwl:hasDbXref "GARD:3343"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "MESH:D001506"^^xsd:string, "NCI:C34415"^^xsd:string, "OMIM:130650"^^xsd:string, "ORDO:116"^^xsd:string, "SNOMEDCT_US_2021_03_01:81780002"^^xsd:string, "UMLS_CUI:C0004903"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5572"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Beckwith-Wiedemann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:D001506"^^xsd:string . obo:DOID_5573 obo:IAO_0000115 "A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Hog cholera (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5573"^^xsd:string ; a owl:Class ; rdfs:label "obsolete classical swine fever"^^xsd:string ; owl:deprecated true . obo:DOID_5574 oboInOwl:hasDbXref "GARD:5493"^^xsd:string, "MESH:D003969"^^xsd:string, "NCI:C26749"^^xsd:string, "SNOMEDCT_US_2021_03_01:447643008"^^xsd:string, "UMLS_CUI:C0011993"^^xsd:string ; oboInOwl:hasExactSynonym "VIP- Secreting tumor"@en, "Vasoactive intestinal peptide-secreting tumor"@en, "Vipoma, malignant"@en, "malignant vasoactive intestinal peptide-secreting tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5574"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "VIPoma"^^xsd:string ; rdfs:subClassOf obo:DOID_169 . obo:DOID_5575 oboInOwl:hasExactSynonym "Delay in sexual development and/or puberty"@en, "Delayed puberty"@en, "Delayed puberty (& [NOS])"@en, "Delayed puberty (disorder)"@en, "Delayed puberty NOS"@en, "delayed puberty"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5575"^^xsd:string ; a owl:Class ; rdfs:label "obsolete delayed puberty"^^xsd:string ; owl:deprecated true . obo:DOID_5576 oboInOwl:hasDbXref "ICD10CM:F52.32"^^xsd:string, "NCI:C34959"^^xsd:string, "SNOMEDCT_US_2021_03_01:81903006"^^xsd:string, "UMLS_CUI:C0033949"^^xsd:string ; oboInOwl:hasExactSynonym "male Orgasmic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5576"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inhibited male orgasm"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_5577 obo:IAO_0000115 "A neuroendocrine tumor that results_in an overproduction of gastric acid."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015408"^^xsd:string, "NCI:C3050"^^xsd:string, "SNOMEDCT_US_2021_03_01:16189002"^^xsd:string, "UMLS_CUI:C0017150"^^xsd:string ; oboInOwl:hasExactSynonym "Gastrin Secreting tumor"@en, "Gastrin cell tumour"@en, "malignant gastrinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastrinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_169 . obo:DOID_5578 oboInOwl:hasExactSynonym "small intestinal G-cell gastrin producing tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5578"^^xsd:string ; a owl:Class ; rdfs:label "obsolete small intestinal gastrinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5579 oboInOwl:hasDbXref "NCI:C27444"^^xsd:string, "UMLS_CUI:C1333767"^^xsd:string ; oboInOwl:hasExactSynonym "gastric G-cell gastrin producing tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5579"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric gastrinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_558 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:558"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute pyelonephritis without lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_5580 oboInOwl:hasDbXref "NCI:C9069"^^xsd:string, "UMLS_CUI:C1368066"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic G-cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic gastrinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_5583 obo:IAO_0000115 "A lung carcinoma that is located_in large undifferentiated cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5584"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018286"^^xsd:string, "NCI:C3779"^^xsd:string, "NCI:C4452"^^xsd:string, "SNOMEDCT_US_2021_03_01:254631008"^^xsd:string, "SNOMEDCT_US_2021_03_01:42596004"^^xsd:string, "UMLS_CUI:C0206703"^^xsd:string, "UMLS_CUI:C0345960"^^xsd:string ; oboInOwl:hasExactSynonym "Giant cell carcinoma"@en, "Giant cell lung carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5583"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung giant cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_5585 oboInOwl:hasDbXref "NCI:C4461"^^xsd:string, "SNOMEDCT_US_2021_03_01:254659009"^^xsd:string, "UMLS_CUI:C0345982"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple self-healing epithelioma of Ferguson-Smith"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5585"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Ferguson-Smith tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3149 . obo:DOID_5587 obo:IAO_0000115 "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:T79.6"^^xsd:string, "ICD9CM:958.6"^^xsd:string, "MESH:D054061"^^xsd:string, "NCI:C35130"^^xsd:string, "SNOMEDCT_US_2021_03_01:157667008"^^xsd:string, "UMLS_CUI:C0042951"^^xsd:string ; oboInOwl:hasExactSynonym "Volkmann's ischemic contracture"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Volkmann contracture"^^xsd:string ; rdfs:subClassOf obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_5588 obo:IAO_0000115 "A papillary adenocarcinoma that is located_in the lung."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5650"^^xsd:string, "UMLS_CUI:C1335325"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenocarcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5588"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_559 oboInOwl:hasDbXref "ICD10CM:N10"^^xsd:string, "ICD9CM:590.1"^^xsd:string, "NCI:C123215"^^xsd:string, "SNOMEDCT_US_2021_03_01:155862004"^^xsd:string, "UMLS_CUI:C0520575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:559"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_11400 . obo:DOID_5590 obo:IAO_0000115 "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5590"^^xsd:string ; a owl:Class ; rdfs:label "aggressive digital papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5667, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_5591 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:128898008"^^xsd:string, "UMLS_CUI:C1367774"^^xsd:string ; oboInOwl:hasExactSynonym "Digital papillary adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5591"^^xsd:string ; a owl:Class ; rdfs:label "eccrine papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4920, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_5592 obo:IAO_0000115 "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6800"^^xsd:string ; oboInOwl:hasDbXref "NCI:C6870"^^xsd:string, "UMLS_CUI:C1336027"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma of the breast"@en, "breast solid papillary carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "papillary carcinoma of breast"@en, "solid papillary carcinoma of the breast"@en ; oboInOwl:id "DOID:5592"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_5593 obo:IAO_0000115 "A papillary adenocarcinoma that is located_in the stomach."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5472"^^xsd:string, "UMLS_CUI:C1333785"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenocarcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3717 . obo:DOID_5594 oboInOwl:hasExactSynonym "Intraductal Papillary adenocarcinoma with Invasion"@en, "Intraductal papillary adenocarcinoma with invasion (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5594"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intraductal papillary adenocarcinoma with invasion"^^xsd:string ; owl:deprecated true . obo:DOID_5595 oboInOwl:hasDbXref "NCI:C27937"^^xsd:string, "UMLS_CUI:C1335327"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5595"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary thymic adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4923 . obo:DOID_5597 obo:IAO_0000115 "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6267"^^xsd:string, "UMLS_CUI:C1333595"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenocarcinoma of the fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5597"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3706 . obo:DOID_5598 obo:IAO_0000115 "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40099"^^xsd:string, "UMLS_CUI:C1517124"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5598"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3706 . obo:DOID_5599 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5599"^^xsd:string ; a owl:Class ; rdfs:label "obsolete precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_560 oboInOwl:hasDbXref "ICD10CM:Q07.8"^^xsd:string, "ICD9CM:374.43"^^xsd:string, "MESH:C535908"^^xsd:string, "OMIM:154600"^^xsd:string, "SNOMEDCT_US_2021_03_01:5127009"^^xsd:string, "UMLS_CUI:C0266521"^^xsd:string ; oboInOwl:hasExactSynonym "Jaw-blinking"@en, "Marcus-Gunn syndrome"@en, "Pterygoid-levator synkinesis"@en, "abnormal innervation syndrome of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:560"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "jaw-winking syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 . obo:DOID_5600 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete precursor lymphoblastic lymphoma/leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_5601 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5601"^^xsd:string ; a owl:Class ; rdfs:label "obsolete T-cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_5602 obo:IAO_0000115 "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9142"^^xsd:string, "UMLS_CUI:C0279592"^^xsd:string ; oboInOwl:hasExactSynonym "ATLL"@en, "Acute Adult T-cell Leukemia-Lymphoma"@en, "adult Precursor T Lymphoblastic Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "T-cell adult acute lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5603, obo:DOID_5604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000084 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5603 obo:IAO_0000115 "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5599"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C91.5"^^xsd:string, "MESH:D015459"^^xsd:string, "NCI:C3184"^^xsd:string, "SNOMEDCT_US_2021_03_01:77430005"^^xsd:string, "UMLS_CUI:C0023493"^^xsd:string ; oboInOwl:hasExactSynonym "Precursor T Lymphoblastic Leukemia"@en, "T Acute Lymphoblastic Leukemia"@en, "T-cell acute lymphocytic leukaemia"@en, "acute T cell leukaemia"@en, "acute T cell leukemia"^^xsd:string, "precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5603"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "T-cell acute lymphoblastic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_9952 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9952 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000084 ] ) ] . obo:DOID_5604 obo:IAO_0000115 "An acute lymphocytic leukemia occurring during adulthood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4967"^^xsd:string, "UMLS_CUI:C0751606"^^xsd:string ; oboInOwl:hasExactSynonym "adult ALL"^^xsd:string, "adult acute lymphoid Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5604"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult acute lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9952, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5605 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9119"^^xsd:string, "UMLS_CUI:C0860580"^^xsd:string ; oboInOwl:hasExactSynonym "Medullary breast carcinoma with lymphoid Stroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "medullary carcinoma of breast"@en ; oboInOwl:id "DOID:5605"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast medullary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_5608 oboInOwl:hasDbXref "ICD10CM:K04.2"^^xsd:string, "MESH:D003784"^^xsd:string, "SNOMEDCT_US_2021_03_01:57602001"^^xsd:string, "UMLS_CUI:C0011401"^^xsd:string ; oboInOwl:hasExactSynonym "pulp calcification"@en, "pulp calcifications"@en, "pulpal calcifications"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5608"^^xsd:string ; a owl:Class ; rdfs:label "dental pulp calcification"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_5609 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5609"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital adrenal gland disorder"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_561 oboInOwl:hasDbXref "ICD9CM:350.8"^^xsd:string, "UMLS_CUI:C0029834"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:561"^^xsd:string ; a owl:Class ; rdfs:label "trigeminal nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001645 ] ) ] . obo:DOID_5611 oboInOwl:hasExactSynonym "malignant Intraspinal meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5611"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic intraspinal meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_5612 obo:IAO_0000115 "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3638"^^xsd:string, "DOID:7225"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C72.0"^^xsd:string, "ICD9CM:192.2"^^xsd:string, "MESH:D013120"^^xsd:string, "MESH:D013125"^^xsd:string, "NCI:C168693"^^xsd:string, "NCI:C3381"^^xsd:string, "NCI:C3572"^^xsd:string, "SNOMEDCT_US_2021_03_01:126962006"^^xsd:string, "SNOMEDCT_US_2021_03_01:709289008"^^xsd:string, "SNOMEDCT_US_2021_03_01:94068003"^^xsd:string, "UMLS_CUI:C0037930"^^xsd:string, "UMLS_CUI:C0037939"^^xsd:string, "UMLS_CUI:C0153646"^^xsd:string ; oboInOwl:hasExactSynonym "Intraspinal tumor"@en, "malignant tumor of the Spinal Cord"@en, "spinal cord cancer"@en, "spinal cord neoplasm"@en, "tumor of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "spinal neoplasm"@en ; oboInOwl:id "DOID:5612"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "spinal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_3620 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_5613 oboInOwl:hasExactSynonym "anaplastic (malignant) meningioma"@en, "malignant meningioma (morphologic abnormality)"@en, "meningioma, malignant (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5613"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_5614 obo:IAO_0000115 "An eye and adnexa disease that is located_in the eye."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2933"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44"^^xsd:string, "ICD9CM:379.90"^^xsd:string, "MESH:D005128"^^xsd:string, "NCI:C26767"^^xsd:string, "SNOMEDCT_US_2021_03_01:371409005"^^xsd:string, "UMLS_CUI:C0015397"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5614"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "eye disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, [ a owl:Restriction ; owl:onProperty obo:RO_0002220 ; owl:someValuesFrom obo:UBERON_0004088 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] . obo:DOID_5615 oboInOwl:hasDbXref "NCI:C5135"^^xsd:string, "UMLS_CUI:C1334255"^^xsd:string ; oboInOwl:hasExactSynonym "Intradural Extramedullary Spinal tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal canal intradural extramedullary neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_5616 oboInOwl:hasExactSynonym "epithelial Dysplasia"@en, "epithelial dysplasia (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5616"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intraepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_562 oboInOwl:hasDbXref "NCI:C27598"^^xsd:string, "SNOMEDCT_US_2021_03_01:60750009"^^xsd:string, "UMLS_CUI:C0271353"^^xsd:string ; oboInOwl:hasExactSynonym "Oculomotor nerve disorder"@en, "Third cranial nerve disease"@en, "disorder of oculomotor nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "third cranial nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001643 ] ) ] . obo:DOID_5621 obo:IAO_0000115 "A sarcoma and hematologic cancer that derives_from follicular lymphoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9294"^^xsd:string, "UMLS_CUI:C1334030"^^xsd:string ; oboInOwl:hasExactSynonym "histiocytic and dendritic cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5621"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "histiocytic and dendritic cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2531 . obo:DOID_5622 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5622"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Major puerperal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5623 obo:IAO_0000115 "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40361"^^xsd:string, "UMLS_CUI:C1510796"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5623"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1612, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] . obo:DOID_5624 obo:IAO_0000115 "A bile duct carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5778"^^xsd:string, "UMLS_CUI:C0861854"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct Adenosquamous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5624"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous bile duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4606, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_5625 obo:IAO_0000115 "An esophageal carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27421"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5625"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5041, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_5626 obo:IAO_0000115 "A thymic carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6458"^^xsd:string, "UMLS_CUI:C1332171"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3277, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_5627 obo:IAO_0000115 "A gallbladder carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7356"^^xsd:string, "UMLS_CUI:C1333741"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenosquamous carcinoma of gallbladder"@en ; oboInOwl:id "DOID:5627"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous gallbladder carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4948, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5628 obo:IAO_0000115 "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27418"^^xsd:string, "UMLS_CUI:C1332245"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5628"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10020, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] . obo:DOID_5629 obo:IAO_0000115 "A colon carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5491"^^xsd:string, "UMLS_CUI:C1333082"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Adenosquamous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenosquamous carcinoma of colon"@en ; oboInOwl:id "DOID:5629"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous colon carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_219, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_563 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:563"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Fusobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_5630 obo:IAO_0000115 "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40296"^^xsd:string, "UMLS_CUI:C1511050"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland adenosquamous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5630"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3999 . obo:DOID_5631 obo:IAO_0000115 "An endometrial carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5631"^^xsd:string ; a owl:Class ; rdfs:label "endometrial adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1380, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] . obo:DOID_5632 oboInOwl:hasDbXref "NCI:C4538"^^xsd:string, "SNOMEDCT_US_2021_03_01:254978007"^^xsd:string, "UMLS_CUI:C0346328"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of optic nerve sheath"@en, "optic nerve Sheath meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic nerve sheath meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3419 . obo:DOID_5633 oboInOwl:hasExactSynonym "meningioma of the optic tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5633"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual pathway meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_5634 obo:IAO_0000115 "A prostate carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5538"^^xsd:string, "UMLS_CUI:C1335503"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenosquamous carcinoma of prostate"@en ; oboInOwl:id "DOID:5634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosquamous prostate carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_5635 oboInOwl:hasDbXref "NCI:C5474"^^xsd:string, "UMLS_CUI:C1333761"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5635"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_5636 obo:IAO_0000115 "A cervical carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4519"^^xsd:string, "SNOMEDCT_US_2021_03_01:254888007"^^xsd:string, "UMLS_CUI:C0346202"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of cervix"@en, "Adenosquamous cell carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4362, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] . obo:DOID_5637 obo:IAO_0000115 "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5721"^^xsd:string, "UMLS_CUI:C1335299"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosquamous carcinoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenosquamous carcinoma of the pancreas"@en ; oboInOwl:id "DOID:5637"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_1793, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] . obo:DOID_5638 oboInOwl:hasDbXref "NCI:C8380"^^xsd:string, "SNOMEDCT_US_2021_03_01:48460009"^^xsd:string, "UMLS_CUI:C0334554"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Giant cell neoplasm of soft Parts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5638"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant giant cell tumor of soft parts"^^xsd:string ; rdfs:subClassOf obo:DOID_2705 . obo:DOID_5639 oboInOwl:hasDbXref "NCI:C39955"^^xsd:string, "UMLS_CUI:C1514912"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete testis neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3856 . obo:DOID_5641 obo:IAO_0000115 "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27216"^^xsd:string, "UMLS_CUI:C0865849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_5642 obo:IAO_0000115 "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27103"^^xsd:string, "SNOMEDCT_US_2021_03_01:233726000"^^xsd:string, "UMLS_CUI:C0340127"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5642"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "localized pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_5643 oboInOwl:hasDbXref "NCI:C39872"^^xsd:string, "UMLS_CUI:C1519828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral villous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657, obo:DOID_730, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_5644 oboInOwl:hasDbXref "MESH:D014263"^^xsd:string, "SNOMEDCT_US_2021_03_01:253383003"^^xsd:string, "UMLS_CUI:C0040962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5644"^^xsd:string ; a owl:Class ; rdfs:label "tricuspid valve prolapse"^^xsd:string ; rdfs:subClassOf obo:DOID_0050826 . obo:DOID_5648 obo:IAO_0000115 "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5647"^^xsd:string ; oboInOwl:hasDbXref "GARD:8238"^^xsd:string, "MESH:C562943"^^xsd:string, "NCI:C4533"^^xsd:string, "NCI:C4715"^^xsd:string, "SNOMEDCT_US_2021_03_01:188292007"^^xsd:string, "SNOMEDCT_US_2021_03_01:88252006"^^xsd:string, "UMLS_CUI:C0346289"^^xsd:string, "UMLS_CUI:C0431109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5648"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid plexus carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3540, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001886 ] . obo:DOID_5649 oboInOwl:hasExactSynonym "solid carcinoma NOS (morphologic abnormality)"@en, "solid carcinoma with mucin formation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5649"^^xsd:string ; a owl:Class ; rdfs:label "obsolete solid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_565 oboInOwl:hasDbXref "ICD9CM:386.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:194375009"^^xsd:string, "UMLS_CUI:C0155518"^^xsd:string ; oboInOwl:hasExactSynonym "Bilateral hypoactive labyrinth"@en, "Hypoactive bilateral labyrinthine dysfunction"@en, "Hypoactive labyrinth, bilateral"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:565"^^xsd:string ; a owl:Class ; rdfs:label "bilateral hypoactive labyrinth"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_5651 obo:IAO_0000115 "A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation."^^xsd:string ; oboInOwl:hasExactSynonym "anaplastic carcinoma"@en, "carcinoma, anaplastic (morphologic abnormality)"@en, "carcinoma, anaplastic type, NOS (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5651"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5652 oboInOwl:hasExactSynonym "Metaplastic carcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5652"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metaplastic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5655 obo:IAO_0000115 "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H47.4"^^xsd:string, "ICD9CM:377.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:70476006"^^xsd:string, "UMLS_CUI:C0155307"^^xsd:string ; oboInOwl:hasExactSynonym "chiasma syndrome"@en, "disorder of optic chiasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5655"^^xsd:string ; a owl:Class ; rdfs:label "chiasmal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1891 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000959 ] ) ] . obo:DOID_5656 obo:IAO_0000115 "A neuropathy that is located_in one of the twelve cranial nerves."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G52.9"^^xsd:string, "ICD9CM:352.9"^^xsd:string, "MESH:D003389"^^xsd:string, "NCI:C26733"^^xsd:string, "SNOMEDCT_US_2021_03_01:73013002"^^xsd:string, "UMLS_CUI:C0010266"^^xsd:string ; oboInOwl:hasExactSynonym "Cranial nerve disorder"@en, "disorder of cranial nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_870 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001785 ] ) ] . obo:DOID_5658 obo:IAO_0000115 "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4152"^^xsd:string, "SNOMEDCT_US_2021_03_01:189655006"^^xsd:string, "UMLS_CUI:C0334318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5658"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipid-rich carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_5659 obo:IAO_0000115 "A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5659"^^xsd:string ; a owl:Class ; rdfs:label "obsolete invasive carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_566 oboInOwl:hasDbXref "ICD10CM:H83.2"^^xsd:string, "ICD9CM:386.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:5239005"^^xsd:string, "UMLS_CUI:C0155514"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:566"^^xsd:string ; a owl:Class ; rdfs:label "labyrinthine dysfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_5660 obo:IAO_0000115 "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4107"^^xsd:string, "SNOMEDCT_US_2021_03_01:764938007"^^xsd:string, "UMLS_CUI:C0334254"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoepithelioma-like carcinoma"@en, "Nasopharyngeal type Undifferentiated carcinoma"@en, "lymphoepithelial carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoepithelioma-like carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_5662 obo:IAO_0000115 "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4094"^^xsd:string, "SNOMEDCT_US_2021_03_01:16741004"^^xsd:string, "UMLS_CUI:C0334233"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5662"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4015 . obo:DOID_5663 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5663"^^xsd:string ; a owl:Class ; rdfs:label "obsolete helicobacter pylori-related carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5665 obo:IAO_0000115 "An ear cancer that is located_in the external ear."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4653"^^xsd:string, "SNOMEDCT_US_2021_03_01:277156006"^^xsd:string, "UMLS_CUI:C0349576"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of the External ear"@en, "malignant tumor of external ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5665"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external ear cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_379, obo:DOID_5101 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001691 ] ) ] . obo:DOID_5667 oboInOwl:hasDbXref "NCI:C6938"^^xsd:string, "SNOMEDCT_US_2021_03_01:254708001"^^xsd:string, "UMLS_CUI:C1412016"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the Sweat gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5667"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sweat gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2095, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001820 ] . obo:DOID_5670 obo:IAO_0000115 "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4188"^^xsd:string, "SNOMEDCT_US_2021_03_01:36425007"^^xsd:string, "UMLS_CUI:C0334370"^^xsd:string ; oboInOwl:hasExactSynonym "Comedocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5670"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "comedo carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060074, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_5672 obo:IAO_0000115 "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1994"^^xsd:string, "DOID:1997"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18.9"^^xsd:string, "NCI:C4978"^^xsd:string, "SNOMEDCT_US_2021_03_01:93854002"^^xsd:string, "UMLS_CUI:C0346629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5672"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "large intestine cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10155 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000059 ] ) ] . obo:DOID_5675 obo:IAO_0000115 "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000230"^^xsd:string, "NCI:C3680"^^xsd:string, "SNOMEDCT_US_2021_03_01:30156004"^^xsd:string, "UMLS_CUI:C0205643"^^xsd:string ; oboInOwl:hasExactSynonym "Cribriform carcinoma"@en, "ductal carcinoma, cribriform type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5675"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cribriform carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_5677 obo:IAO_0000115 "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8885"^^xsd:string, "UMLS_CUI:C1334582"^^xsd:string ; oboInOwl:hasExactSynonym "primary malignant Extragonadal Nonseminoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5677"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "extragonadal nonseminomatous germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_2994, obo:DOID_5559, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000916 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] . obo:DOID_5678 oboInOwl:hasDbXref "ICD9CM:362.85"^^xsd:string, "SNOMEDCT_US_2021_03_01:87194000"^^xsd:string, "UMLS_CUI:C0474334"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal nerve fiber bundle defects"@en, "Retinal nerve fiber bundle deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5678"^^xsd:string ; a owl:Class ; rdfs:label "nerve fibre bundle defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1393, obo:DOID_5679 . obo:DOID_5679 obo:IAO_0000115 "An eye disease that is located_in the retina."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.9"^^xsd:string, "ICD9CM:362.9"^^xsd:string, "MESH:D012164"^^xsd:string, "NCI:C26875"^^xsd:string, "SNOMEDCT_US_2021_03_01:29555009"^^xsd:string, "UMLS_CUI:C0035309"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_5680 obo:IAO_0000115 "An embryonal carcinoma that is located_in the testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6341"^^xsd:string, "UMLS_CUI:C0238448"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal carcinoma of testis"@en, "testicular embryonal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "embryonal carcinoma of the testis"@en ; oboInOwl:id "DOID:5680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal testis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2998, obo:DOID_3308, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_5681 obo:IAO_0000115 "An embryonal carcinoma that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8108"^^xsd:string, "SNOMEDCT_US_2021_03_01:254872007"^^xsd:string, "UMLS_CUI:C0346183"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal carcinoma of ovary"@en, "Embryonal carcinoma of the Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394, obo:DOID_3308, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_5683 obo:IAO_0000115 "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families."^^xsd:string ; oboInOwl:hasDbXref "MESH:D061325"^^xsd:string, "NCI:C8493"^^xsd:string, "SNOMEDCT_US_2021_03_01:718220008"^^xsd:string, "UMLS_CUI:C0677776"^^xsd:string ; oboInOwl:hasExactSynonym "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hereditary breast ovarian cancer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_5684 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "NCI:C92206"^^xsd:string, "OMIM:271510"^^xsd:string, "UMLS_CUI:C0920349"^^xsd:string ; oboInOwl:hasExactSynonym "Spondylar and nasal Alterations-Striated Metaphyses syndrome"@en, "sponastrime dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5684"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, Sponastrime type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_5687 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5687"^^xsd:string ; a owl:Class ; rdfs:label "obsolete flat adenoma syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_5688 obo:IAO_0000115 "A syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8."^^xsd:string ; oboInOwl:hasDbXref "GARD:7885"^^xsd:string, "MESH:D014898"^^xsd:string, "NCI:C3447"^^xsd:string, "OMIM:277700"^^xsd:string, "ORDO:902"^^xsd:string, "SNOMEDCT_US_2021_03_01:51626007"^^xsd:string, "UMLS_CUI:C0043119"^^xsd:string ; oboInOwl:hasExactSynonym "WS"@en, "Werner's syndrome"@en, "adult premature ageing syndrome"@en, "adult progeria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5688"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Werner syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_5690 obo:IAO_0000115 "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008080"^^xsd:string, "NCI:C4250"^^xsd:string, "ORDO:99971"^^xsd:string, "SNOMEDCT_US_2021_03_01:28655007"^^xsd:string, "UMLS_CUI:C1370889"^^xsd:string ; oboInOwl:hasExactSynonym "atypical lipomatous tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5690"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "well-differentiated liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5691 oboInOwl:hasDbXref "ICD10CM:H47.6"^^xsd:string, "ICD9CM:377.7"^^xsd:string, "NCI:C35275"^^xsd:string, "SNOMEDCT_US_2021_03_01:128329001"^^xsd:string, "UMLS_CUI:C0234398"^^xsd:string ; oboInOwl:hasExactSynonym "visual cortex dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "visual cortex disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1393 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000411 ] ) ] . obo:DOID_5692 oboInOwl:hasDbXref "NCI:C4252"^^xsd:string, "SNOMEDCT_US_2021_03_01:43296007"^^xsd:string, "UMLS_CUI:C0334471"^^xsd:string ; oboInOwl:hasExactSynonym "Round cell liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5692"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular myxoid liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5693 oboInOwl:hasDbXref "NCI:C7811"^^xsd:string, "UMLS_CUI:C0278608"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5694 oboInOwl:hasDbXref "NCI:C5705"^^xsd:string, "UMLS_CUI:C1333456"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of esophagus"@en, "Liposarcoma of oesophagus"@en, "oesophagus liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5694"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1114, obo:DOID_3382, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_5695 oboInOwl:hasDbXref "NCI:C8091"^^xsd:string, "UMLS_CUI:C0279984"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric liposarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5695"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_5696 obo:IAO_0000115 "A liposarcoma that is located_in the larynx."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6021"^^xsd:string, "UMLS_CUI:C1334372"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5696"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2596, obo:DOID_3382, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] . obo:DOID_5697 obo:IAO_0000115 "An ovary sarcoma that arises from fatty tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6419"^^xsd:string, "UMLS_CUI:C1335165"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5697"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liposarcoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_2394, obo:DOID_3382, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_5698 oboInOwl:hasDbXref "NCI:C6509"^^xsd:string, "SNOMEDCT_US_2021_03_01:128883006"^^xsd:string, "UMLS_CUI:C1266130"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroblastic Liposarcoma"@en, "Fibroblastic liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibroblastic liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5699 obo:IAO_0000115 "A liposarcoma that is located_in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6185"^^xsd:string, "UMLS_CUI:C1335745"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_263, obo:DOID_3382, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_57 obo:IAO_0000115 "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:54"^^xsd:string, "DOID:55"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I06.1"^^xsd:string, "ICD9CM:395.1"^^xsd:string, "ICD9CM:396.3"^^xsd:string, "MESH:D001022"^^xsd:string, "NCI:C51223"^^xsd:string, "SNOMEDCT_US_2021_03_01:155283004"^^xsd:string, "SNOMEDCT_US_2021_03_01:194736003"^^xsd:string, "SNOMEDCT_US_2021_03_01:60234000"^^xsd:string, "UMLS_CUI:C0003504"^^xsd:string, "UMLS_CUI:C0155568"^^xsd:string, "UMLS_CUI:C0264774"^^xsd:string ; oboInOwl:hasExactSynonym "Rheumatic aortic insufficiency"@en, "Rheumatic aortic regurgitation"@en, "Rheumatic aortic valve regurgitation"@en, "aortic incompetence"@en, "aortic insufficiency"@en, "aortic regurgitation"@en, "rheumatic aortic valve insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Corrigan's disease"@en ; oboInOwl:id "DOID:57"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aortic valve insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_62 . obo:DOID_5700 oboInOwl:hasDbXref "NCI:C5488"^^xsd:string, "UMLS_CUI:C1333778"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_5701 obo:IAO_0000115 "A breast sarcoma that arises from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5187"^^xsd:string, "UMLS_CUI:C1332632"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5701"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_5702 oboInOwl:hasDbXref "MESH:D008080"^^xsd:string, "NCI:C3705"^^xsd:string, "SNOMEDCT_US_2021_03_01:404071006"^^xsd:string, "UMLS_CUI:C0205825"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic Liposarcoma"@en, "Pleomorphic liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5702"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5703 oboInOwl:hasDbXref "NCI:C4253"^^xsd:string, "SNOMEDCT_US_2021_03_01:11073003"^^xsd:string, "UMLS_CUI:C0334472"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5703"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5704 oboInOwl:hasDbXref "NCI:C6507"^^xsd:string, "SNOMEDCT_US_2021_03_01:28655007"^^xsd:string, "UMLS_CUI:C0334469"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5704"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosing liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5690 . obo:DOID_5705 oboInOwl:hasDbXref "NCI:C27489"^^xsd:string, "SNOMEDCT_US_2021_03_01:404073009"^^xsd:string, "UMLS_CUI:C1275275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5690 . obo:DOID_5707 oboInOwl:hasExactSynonym "Non-metastatic Liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5707"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liposarcoma nonmetastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5708 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5708"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liposarcoma metastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5709 oboInOwl:hasDbXref "NCI:C27781"^^xsd:string, "UMLS_CUI:C0545074"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5709"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed-type liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_571 oboInOwl:hasDbXref "ICD10CM:G56.10"^^xsd:string, "ICD9CM:354.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:193127001"^^xsd:string, "UMLS_CUI:C0154742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:571"^^xsd:string ; a owl:Class ; rdfs:label "median neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_572 . obo:DOID_5710 oboInOwl:hasExactSynonym "relapsed Liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5710"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liposarcoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_5711 obo:IAO_0000115 "A vulvar sarcoma that has_material_basis in adipocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40321"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5711"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_1245, obo:DOID_3382, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_5712 oboInOwl:hasDbXref "NCI:C5615"^^xsd:string, "UMLS_CUI:C1333175"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5712"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2687 . obo:DOID_5713 obo:IAO_0000115 "A liposarcoma that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6614"^^xsd:string, "UMLS_CUI:C1334663"^^xsd:string ; oboInOwl:hasExactSynonym "Liposarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5714 oboInOwl:hasDbXref "NCI:C6973"^^xsd:string, "UMLS_CUI:C1334242"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_5715 oboInOwl:hasDbXref "NCI:C4009"^^xsd:string, "SNOMEDCT_US_2021_03_01:254962005"^^xsd:string, "UMLS_CUI:C0338078"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Functioning neoplasm of the Pituitary"@en, "Non-Secretory adenoma of the Pituitary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5715"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "functionless pituitary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_5716 oboInOwl:hasAlternativeId "DOID:6254"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7047"^^xsd:string, "NCI:C7911"^^xsd:string, "UMLS_CUI:C0278864"^^xsd:string, "UMLS_CUI:C0851693"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary tumors, Hormone Producing"@en, "Somatotropinoma"@en, "growth hormone producing pituitary tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hormone producing pituitary cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1785 . obo:DOID_5717 oboInOwl:hasExactSynonym "relapsed tumor of Pituitary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5717"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pituitary tumor"^^xsd:string ; owl:deprecated true . obo:DOID_5718 obo:IAO_0000115 "An adrenal gland cancer that derives_from immature neuroblastic cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4827"^^xsd:string, "SNOMEDCT_US_2021_03_01:281562007"^^xsd:string, "UMLS_CUI:C0559460"^^xsd:string ; oboInOwl:hasExactSynonym "neuroblastoma of Adrenal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5718"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3953 . obo:DOID_5719 obo:IAO_0000115 "An adrenal gland cancer that is located_in the adrenal medulla."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:662"^^xsd:string ; oboInOwl:hasDbXref "GARD:5755"^^xsd:string, "ICD10CM:C74.1"^^xsd:string, "NCI:C4396"^^xsd:string, "NCI:C4856"^^xsd:string, "SNOMEDCT_US_2021_03_01:127023007"^^xsd:string, "SNOMEDCT_US_2021_03_01:93666006"^^xsd:string, "UMLS_CUI:C0344456"^^xsd:string, "UMLS_CUI:C0596046"^^xsd:string ; oboInOwl:hasExactSynonym "adrenal medulla neoplasm"@en, "adrenal medulla tumor"@en, "malignant neoplasm of adrenal medulla"@en, "malignant tumor of the Adrenal Medulla"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5719"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal medulla cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3953 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001236 ] ) ] . obo:DOID_572 oboInOwl:hasDbXref "ICD9CM:354"^^xsd:string, "SNOMEDCT_US_2021_03_01:193125009"^^xsd:string, "UMLS_CUI:C0154741"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:572"^^xsd:string ; a owl:Class ; rdfs:label "mononeuritis of upper limb and mononeuritis multiplex"^^xsd:string ; rdfs:subClassOf obo:DOID_1802 . obo:DOID_5720 oboInOwl:hasExactSynonym "Neuroblastomas of Adrenal gland and Sympathetic nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5720"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuroblastomas of the adrenal gland and sympathetic nervous system"^^xsd:string ; owl:deprecated true . obo:DOID_5723 obo:IAO_0000115 "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H47.2"^^xsd:string, "ICD9CM:377.1"^^xsd:string, "MESH:D009896"^^xsd:string, "NCI:C34863"^^xsd:string, "OMIM:PS165500"^^xsd:string, "ORDO:98673"^^xsd:string, "SNOMEDCT_US_2021_03_01:155188004"^^xsd:string, "UMLS_CUI:C0029124"^^xsd:string ; oboInOwl:hasExactSynonym "atrophy of optic disc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5723"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "optic atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1891, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000587 ] . obo:DOID_5724 obo:IAO_0000115 "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39907"^^xsd:string, "UMLS_CUI:C1519234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5724"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "seminal vesicle cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_3855, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000998 ] . obo:DOID_5725 obo:IAO_0000115 "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40019"^^xsd:string, "UMLS_CUI:C1514907"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5725"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete ovarii cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6837 . obo:DOID_5726 obo:IAO_0000115 "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40142"^^xsd:string, "UMLS_CUI:C3642324"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5726"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095 . obo:DOID_5727 obo:IAO_0000115 "A uterine cancer that is located_in the ligaments that support the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40133"^^xsd:string, "UMLS_CUI:C1519870"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the uterine Ligament"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5727"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_363 . obo:DOID_5728 obo:IAO_0000115 "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:12843"^^xsd:string, "NCI:C3958"^^xsd:string, "SNOMEDCT_US_2021_03_01:62557001"^^xsd:string, "UMLS_CUI:C0267785"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyomatosis peritonealis disseminata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5728"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse peritoneal leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060117, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_5729 obo:IAO_0000115 "A leiomyomatosis that is located within the blood vessels."^^xsd:string ; oboInOwl:hasDbXref "GARD:10802"^^xsd:string, "NCI:C4518"^^xsd:string, "SNOMEDCT_US_2021_03_01:254883003"^^xsd:string, "UMLS_CUI:C0346200"^^xsd:string ; oboInOwl:hasExactSynonym "Intravenous leiomyomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5729"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intravenous leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_573 oboInOwl:hasAlternativeId "DOID:7318"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009408"^^xsd:string, "NCI:C27221"^^xsd:string, "SNOMEDCT_US_2021_03_01:45781009"^^xsd:string, "UMLS_CUI:C0027743"^^xsd:string, "UMLS_CUI:C1510429"^^xsd:string ; oboInOwl:hasExactSynonym "Compression neuropathy"@en, "Entrapment Neuropathy"@en, "entrapment neuropathy"@en, "peripheral nerve entrapment syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nerve compression syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_574 . obo:DOID_5730 obo:IAO_0000115 "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40119"^^xsd:string, "SNOMEDCT_US_2021_03_01:36742000"^^xsd:string, "UMLS_CUI:C0269043"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5730"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "salpingitis isthmica nodosa"^^xsd:string ; rdfs:subClassOf obo:DOID_5731 . obo:DOID_5731 oboInOwl:hasDbXref "ICD10CM:N70.11"^^xsd:string, "NCI:C40118"^^xsd:string, "SNOMEDCT_US_2021_03_01:55551005"^^xsd:string, "UMLS_CUI:C0269041"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5733 . obo:DOID_5732 oboInOwl:hasDbXref "ICD10CM:N70"^^xsd:string, "NCI:C34968"^^xsd:string, "SNOMEDCT_US_2021_03_01:155974004"^^xsd:string, "UMLS_CUI:C0034220"^^xsd:string ; oboInOwl:hasExactSynonym "Pyosalpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5732"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyosalpinx"^^xsd:string ; rdfs:subClassOf obo:DOID_5733 . obo:DOID_5733 obo:IAO_0000115 "A fallopian tube disease that is characterized by inflammation of the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N70.91"^^xsd:string, "MESH:D012488"^^xsd:string, "NCI:C26880"^^xsd:string, "SNOMEDCT_US_2021_03_01:155968004"^^xsd:string, "UMLS_CUI:C0036130"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1962 . obo:DOID_5738 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5738"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary myelofibrosis"^^xsd:string ; owl:deprecated true . obo:DOID_574 obo:IAO_0000115 "A nervous system disease that affects the peripheral nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13069"^^xsd:string ; oboInOwl:hasDbXref "NCI:C119734"^^xsd:string, "NCI:C27587"^^xsd:string, "UMLS_CUI:C0031117"^^xsd:string, "UMLS_CUI:C1335029"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "peripheral nerve disease"@en, "peripheral neuropathy"@en ; oboInOwl:id "DOID:574"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral nervous system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_5740 oboInOwl:hasDbXref "NCI:C27455"^^xsd:string, "UMLS_CUI:C1336009"^^xsd:string ; oboInOwl:hasExactSynonym "small intestinal VIP Producing tumor"@en, "small intestinal VIP Producing tumour"@en, "small intestinal vasoactive intestinal peptide producing tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5740"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestinal vasoactive intestinal peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 . obo:DOID_5741 oboInOwl:hasDbXref "NCI:C95599"^^xsd:string, "UMLS_CUI:C2033037"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic VIP Producing tumor"@en, "pancreatic VIP Producing tumour"@en, "pancreatic vasoactive intestinal peptide producing tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5741"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic vasoactive intestinal peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_5742 obo:IAO_0000115 "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7977"^^xsd:string, "SNOMEDCT_US_2021_03_01:783771003"^^xsd:string, "UMLS_CUI:C0279661"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic acinar cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5742"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic acinar cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4074, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0002064 ] . obo:DOID_5743 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40367"^^xsd:string, "UMLS_CUI:C1515868"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acinic cell breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3459 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000622 ] ) ] . obo:DOID_5744 obo:IAO_0000115 "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5745"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40025"^^xsd:string, "NCI:C7550"^^xsd:string, "UMLS_CUI:C1335177"^^xsd:string, "UMLS_CUI:C1518234"^^xsd:string ; oboInOwl:hasExactSynonym "malignant ovarian serous tumor"@en, "serous carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5744"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3713 . obo:DOID_5746 obo:IAO_0000115 "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7978"^^xsd:string, "UMLS_CUI:C0279663"^^xsd:string ; oboInOwl:hasExactSynonym "serous cystadenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5746"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian serous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3605, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_5747 obo:IAO_0000115 "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40136"^^xsd:string, "UMLS_CUI:C1519872"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5747"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3700 . obo:DOID_5748 oboInOwl:hasDbXref "ICD10CM:I09.89"^^xsd:string, "ICD9CM:397.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:18687009"^^xsd:string, "UMLS_CUI:C0155579"^^xsd:string ; oboInOwl:hasExactSynonym "Rheumatic disease of pulmonary valve"@en, "Rheumatic pulmonary incompetence"@en, "Rheumatic pulmonary valve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5748"^^xsd:string ; a owl:Class ; rdfs:label "rheumatic pulmonary valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_5749, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_5749 oboInOwl:hasDbXref "ICD9CM:424.3"^^xsd:string, "NCI:C78579"^^xsd:string, "SNOMEDCT_US_2021_03_01:76267008"^^xsd:string, "UMLS_CUI:C0034087"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary valve disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5749"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002146 ] ) ] . obo:DOID_5750 obo:IAO_0000115 "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27838"^^xsd:string, "UMLS_CUI:C0854924"^^xsd:string ; oboInOwl:hasExactSynonym "uterine corpus serous adenocarcinoma"^^xsd:string, "uterine papillary serous carcinoma"@en, "uterine serous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5750"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9460, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_5751 obo:IAO_0000115 "A serous cystadenocarcinoma tha tis located_in the pancreas."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5724"^^xsd:string, "SNOMEDCT_US_2021_03_01:690801000119108"^^xsd:string, "UMLS_CUI:C1335315"^^xsd:string ; oboInOwl:hasExactSynonym "serous cystadenocarcinoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5751"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic serous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4073, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_5752 obo:IAO_0000115 "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40201"^^xsd:string, "UMLS_CUI:C1516431"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical serous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3702 . obo:DOID_5757 obo:IAO_0000115 "A cervicitis that is located_in the endocervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C26762"^^xsd:string, "SNOMEDCT_US_2021_03_01:155980007"^^xsd:string, "UMLS_CUI:C0014127"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2568 . obo:DOID_5758 oboInOwl:hasDbXref "GARD:3369"^^xsd:string, "MESH:C535700"^^xsd:string, "NCI:C4268"^^xsd:string, "SNOMEDCT_US_2021_03_01:89623007"^^xsd:string, "UMLS_CUI:C0334492"^^xsd:string ; oboInOwl:hasExactSynonym "Mesenchymoma, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5758"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant mesenchymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2668 . obo:DOID_5759 oboInOwl:hasDbXref "MESH:D012626"^^xsd:string, "NCI:C3363"^^xsd:string, "SNOMEDCT_US_2021_03_01:126491004"^^xsd:string, "UMLS_CUI:C0036503"^^xsd:string ; oboInOwl:hasExactSynonym "Sebaceous neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sebaceous gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_576 obo:IAO_0000115 "A kidney disease that is characterized by the presence of excess proteins in the urine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R80"^^xsd:string, "ICD9CM:791.0"^^xsd:string, "MESH:D011507"^^xsd:string, "NCI:C38012"^^xsd:string, "SNOMEDCT_US_2021_03_01:144515004"^^xsd:string, "UMLS_CUI:C0033687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:576"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proteinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_5760 obo:IAO_0000115 "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40369"^^xsd:string, "UMLS_CUI:C1519207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5760"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sebaceous breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_5761 obo:IAO_0000115 "A vulva carcinoma that is characterized by the presence of sebaceous secretions."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40309"^^xsd:string, "UMLS_CUI:C1520094"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5761"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar sebaceous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294 . obo:DOID_5763 oboInOwl:hasDbXref "NCI:C38152"^^xsd:string, "UMLS_CUI:C1333065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung clear cell-sugar-tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3683 . obo:DOID_5764 oboInOwl:hasAlternativeId "DOID:6205"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5276"^^xsd:string, "NCI:C5668"^^xsd:string, "UMLS_CUI:C1334450"^^xsd:string, "UMLS_CUI:C1335488"^^xsd:string ; oboInOwl:hasExactSynonym "lung primary meningioma"@en, "primary pulmonary meningioma"@en, "pulmonary meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5764"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1324, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_5765 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5765"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary ectopic meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_5766 oboInOwl:hasDbXref "MESH:D047868"^^xsd:string, "NCI:C5656"^^xsd:string, "SNOMEDCT_US_2021_03_01:707365008"^^xsd:string, "UMLS_CUI:C1334455"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary sclerosing hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3683, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ] . obo:DOID_5767 oboInOwl:hasDbXref "NCI:C5671"^^xsd:string, "SNOMEDCT_US_2021_03_01:126707007"^^xsd:string, "UMLS_CUI:C1290358"^^xsd:string ; oboInOwl:hasExactSynonym "lung Hilum tumor"@en, "neoplasm of hilus of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5767"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hilar lung neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3683 . obo:DOID_5768 obo:IAO_0000115 "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children."^^xsd:string ; oboInOwl:hasDbXref "GARD:498"^^xsd:string, "NCI:C35795"^^xsd:string, "OMIM:154400"^^xsd:string, "UMLS_CUI:C1332140"^^xsd:string ; oboInOwl:hasExactSynonym "AFD"@en, "Nager syndrome"@en, "acrofacial dysostosis 1, Nager type"@en, "preaxial acrofacial dysostosis"@en, "preaxial manibulofacial dysostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5768"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Nager acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_5769 oboInOwl:hasDbXref "NCI:C4478"^^xsd:string, "SNOMEDCT_US_2021_03_01:254756007"^^xsd:string, "UMLS_CUI:C0346054"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Verruciform Xanthoma"@en, "Verruciform xanthoma"@en, "Verruciform xanthoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5769"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "verruciform xanthoma of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_3345, obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3345 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_5770 oboInOwl:hasExactSynonym "MAI lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5770"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycobacterium avium-intracellulare lymphadenitis"^^xsd:string ; owl:deprecated true . obo:DOID_5771 oboInOwl:hasExactSynonym "MAC lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5771"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycobacterium avium complex lymphadenitis"^^xsd:string ; owl:deprecated true . obo:DOID_5772 obo:IAO_0000115 "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5503"^^xsd:string, "UMLS_CUI:C1332882"^^xsd:string ; oboInOwl:hasExactSynonym "CNS hematopoietic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hematopoietic neoplasm of central nervous system"@en ; oboInOwl:id "DOID:5772"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system hematologic cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2531, obo:DOID_3620 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2531 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_5773 obo:IAO_0000115 "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9679"^^xsd:string ; oboInOwl:hasDbXref "GARD:7264"^^xsd:string, "ICD10CM:K13.5"^^xsd:string, "ICD9CM:528.8"^^xsd:string, "MESH:D009914"^^xsd:string, "NCI:C34866"^^xsd:string, "SNOMEDCT_US_2021_03_01:32883009"^^xsd:string, "UMLS_CUI:C0029171"^^xsd:string, "UMLS_CUI:C0029172"^^xsd:string ; oboInOwl:hasExactSynonym "Oral cavity Submucous Fibrosis"@en, "Oral submucosal fibrosis"@en, "Oral submucosal fibrosis, including of tongue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5773"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oral submucous fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_5774 oboInOwl:hasDbXref "NCI:C27777"^^xsd:string, "UMLS_CUI:C1333817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5774"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "giant hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_483 . obo:DOID_5775 oboInOwl:hasDbXref "NCI:C5395"^^xsd:string, "UMLS_CUI:C1333086"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Cavernous hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5775"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cavernous hemangioma of colon"^^xsd:string ; rdfs:subClassOf obo:DOID_483, obo:DOID_5353 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_483 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_5776 oboInOwl:hasDbXref "NCI:C7053"^^xsd:string, "UMLS_CUI:C1332863"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5776"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cavernous hemangioma of face"^^xsd:string ; rdfs:subClassOf obo:DOID_483 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_483 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001456 ] ) ] . obo:DOID_5777 oboInOwl:hasDbXref "NCI:C5698"^^xsd:string, "UMLS_CUI:C1335686"^^xsd:string ; oboInOwl:hasExactSynonym "neuroendocrine tumor of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5777"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum neuroendocrine neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_169, obo:DOID_1993 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_169 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] ) ] . obo:DOID_578 oboInOwl:hasExactSynonym "urination disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:578"^^xsd:string ; a owl:Class ; rdfs:label "obsolete urination disorder"^^xsd:string ; owl:deprecated true . obo:DOID_5781 oboInOwl:hasDbXref "ICD10CM:H73.81"^^xsd:string, "ICD9CM:384.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:38645004"^^xsd:string, "UMLS_CUI:C0155470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5781"^^xsd:string ; a owl:Class ; rdfs:label "atrophic flaccid tympanic membrane"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_5782 oboInOwl:hasDbXref "ICD10CM:H73.9"^^xsd:string, "ICD9CM:384.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:21426000"^^xsd:string, "UMLS_CUI:C0041825"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5782"^^xsd:string ; a owl:Class ; rdfs:label "tympanic membrane disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5100 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002364 ] ) ] . obo:DOID_5784 oboInOwl:hasDbXref "NCI:C5821"^^xsd:string, "UMLS_CUI:C1333462"^^xsd:string ; oboInOwl:hasExactSynonym "esophageal neuroendocrine tumour"@en, "neuroendocrine tumor of esophagus"@en, "neuroendocrine tumour of oesophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5784"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5041 . obo:DOID_5785 oboInOwl:hasExactSynonym "relapsed Hepatoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5785"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent hepatoblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_5786 oboInOwl:hasExactSynonym "relapsed pediatric cancer of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5786"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood cancer of liver"^^xsd:string ; owl:deprecated true . obo:DOID_5789 oboInOwl:hasDbXref "NCI:C7097"^^xsd:string, "SNOMEDCT_US_2021_03_01:734033006"^^xsd:string, "UMLS_CUI:C1334784"^^xsd:string ; oboInOwl:hasExactSynonym "mixed epithelial and mesenchymal hepatoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5789"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed hepatoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_687 . obo:DOID_5790 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5790"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable hepatoblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_5792 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5792"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatoblastoma with pure fetal epithelial differentiation"^^xsd:string ; owl:deprecated true . obo:DOID_5796 oboInOwl:hasExactSynonym "Non-Resectable Hepatoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5796"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonresectable hepatoblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_5797 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5797"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed hepatoblastoma with teratoid features"^^xsd:string ; owl:deprecated true . obo:DOID_5798 oboInOwl:hasDbXref "NCI:C7095"^^xsd:string, "UMLS_CUI:C1334543"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5798"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macrotrabecular hepatoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_687 . obo:DOID_580 obo:IAO_0000115 "A nephrolithiasis that is characterized by stones composed predominantly uric acid."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:274.11"^^xsd:string, "NCI:C123245"^^xsd:string, "OMIM:605990"^^xsd:string, "SNOMEDCT_US_2021_03_01:267441009"^^xsd:string, "UMLS_CUI:C0403719"^^xsd:string ; oboInOwl:hasExactSynonym "acute urate nephropathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uric acid nephrolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_585 . obo:DOID_5802 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5802"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatoblastoma with combined fetal epithelial differentiation"^^xsd:string ; owl:deprecated true . obo:DOID_5804 oboInOwl:hasDbXref "MESH:D021922"^^xsd:string, "UMLS_CUI:C0012628"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5804"^^xsd:string ; a owl:Class ; rdfs:label "discrete subaortic stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5805 . obo:DOID_5805 obo:IAO_0000115 "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction."^^xsd:string ; oboInOwl:hasDbXref "GARD:5052"^^xsd:string, "MESH:D001020"^^xsd:string, "NCI:C85172"^^xsd:string, "SNOMEDCT_US_2021_03_01:250915007"^^xsd:string, "UMLS_CUI:C0340375"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5805"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subvalvular aortic stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1712 . obo:DOID_5806 oboInOwl:hasDbXref "OMIM:163100"^^xsd:string ; oboInOwl:hasExactSynonym "Salmon patch nevus"@en, "Unna's nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5806"^^xsd:string ; a owl:Class ; rdfs:label "stork bite"^^xsd:string ; rdfs:subClassOf obo:DOID_2725 . obo:DOID_5809 oboInOwl:hasDbXref "NCI:C6589"^^xsd:string, "UMLS_CUI:C1332994"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5809"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood parosteal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3373, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_581 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:581"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gouty nephropathy"^^xsd:string ; owl:deprecated true . obo:DOID_5810 obo:IAO_0000115 "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP."^^xsd:string ; oboInOwl:hasDbXref "GARD:5748"^^xsd:string, "ICD10CM:D81.30"^^xsd:string, "NCI:C3962"^^xsd:string, "OMIM:102700"^^xsd:string, "SNOMEDCT_US_2021_03_01:190999009"^^xsd:string, "UMLS_CUI:C0268124"^^xsd:string ; oboInOwl:hasExactSynonym "ADA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5810"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenosine deaminase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627, obo:DOID_653 . obo:DOID_5812 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.6"^^xsd:string, "MESH:D016511"^^xsd:string, "NCI:C3895"^^xsd:string, "OMIM:209920"^^xsd:string, "SNOMEDCT_US_2021_03_01:71904008"^^xsd:string, "UMLS_CUI:C0242583"^^xsd:string ; oboInOwl:hasExactSynonym "BLSII"@en, "SCID due to absent class II HLA antigens"@en, "bare lymphocyte syndrome type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "MHC class II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_5813 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function."^^xsd:string ; oboInOwl:hasDbXref "GARD:4606"^^xsd:string, "ICD10CM:D81.5"^^xsd:string, "MESH:C562587"^^xsd:string, "NCI:C3963"^^xsd:string, "OMIM:613179"^^xsd:string, "ORDO:760"^^xsd:string, "SNOMEDCT_US_2021_03_01:60743005"^^xsd:string, "UMLS_CUI:C0268125"^^xsd:string ; oboInOwl:hasExactSynonym "PNP deficiency"@en, "Purine nucleoside phosphorylase deficiency"@en, "Purine-Nucleoside Phosphorylase deficiency"@en, "deficiency of inosine phosphorylase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "purine nucleoside phosphorylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, obo:DOID_653, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_5815 obo:IAO_0000115 "A cerebrum cancer that affects the lymph cells and derives_from the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5814"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7611"^^xsd:string, "SNOMEDCT_US_2021_03_01:276836002"^^xsd:string, "UMLS_CUI:C0240803"^^xsd:string ; oboInOwl:hasExactSynonym "brain primary lymphoma"@en, "primary Lymphoma of Cerebrum"@en, "primary cerebral lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5815"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_368, obo:DOID_5772, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_5818 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5818"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ALPS-associated lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_5819 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5819"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_582 oboInOwl:hasDbXref "ICD10CM:R82.3"^^xsd:string, "ICD9CM:791.2"^^xsd:string, "MESH:D006456"^^xsd:string, "NCI:C34677"^^xsd:string, "SNOMEDCT_US_2021_03_01:68600005"^^xsd:string, "UMLS_CUI:C0019048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:582"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemoglobinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_576 . obo:DOID_5820 obo:IAO_0000115 "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time."^^xsd:string ; oboInOwl:hasDbXref "MESH:D058617"^^xsd:string, "NCI:C38661"^^xsd:string, "UMLS_CUI:C0545080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "composite lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_5821 oboInOwl:hasDbXref "NCI:C7184"^^xsd:string, "SNOMEDCT_US_2021_03_01:771073006"^^xsd:string, "UMLS_CUI:C1334749"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5821"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "methotrexate-associated lymphoproliferation"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_5822 obo:IAO_0000115 "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas."^^xsd:string ; oboInOwl:hasDbXref "GARD:10897"^^xsd:string, "NCI:C37869"^^xsd:string, "SNOMEDCT_US_2021_03_01:722954005"^^xsd:string, "UMLS_CUI:C1333878"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5822"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gray zone lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_5823 oboInOwl:hasDbXref "NCI:C5165"^^xsd:string, "UMLS_CUI:C1332979"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric lymphoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5823"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_5825 oboInOwl:hasDbXref "NCI:C7587"^^xsd:string, "UMLS_CUI:C1332206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5825"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5826 obo:IAO_0000115 "A breast cancer that arises_from lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:278052009"^^xsd:string, "UMLS_CUI:C0349669"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the breast"@en, "lymphoma of breast"@en, "malignant lymphoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5826"^^xsd:string ; a owl:Class ; rdfs:label "breast lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_5828 obo:IAO_0000115 "An ovary adenocarcinoma that has_material_basis_in endometrial tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7979"^^xsd:string, "SNOMEDCT_US_2021_03_01:254852002"^^xsd:string, "UMLS_CUI:C0346163"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian endometrioid carcinoma"@en, "endometrioid carcinoma ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "endometrioid carcinoma of ovary"@en ; oboInOwl:id "DOID:5828"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrioid ovary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3713 . obo:DOID_5829 obo:IAO_0000115 "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40138"^^xsd:string, "UMLS_CUI:C1519868"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5829"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine ligament endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3700 . obo:DOID_583 oboInOwl:hasDbXref "ICD10CM:D55-D59"^^xsd:string, "MESH:D000743"^^xsd:string, "NCI:C34376"^^xsd:string, "OMIM:266120"^^xsd:string, "OMIM:612631"^^xsd:string, "SNOMEDCT_US_2021_03_01:61261009"^^xsd:string, "UMLS_CUI:C0002878"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA HEMOLYTIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:583"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_720 . obo:DOID_5830 obo:IAO_0000115 "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6343"^^xsd:string, "UMLS_CUI:C1332913"^^xsd:string ; oboInOwl:hasExactSynonym "endometrioid carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5830"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3702 . obo:DOID_5831 obo:IAO_0000115 "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1972"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40111"^^xsd:string, "NCI:C6279"^^xsd:string, "UMLS_CUI:C1333592"^^xsd:string, "UMLS_CUI:C1517113"^^xsd:string ; oboInOwl:hasExactSynonym "endometrioid carcinoma of the fallopian tube"@en, "fallopian tube endometrioid cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "fallopian tube endometrioid neoplasm"@en ; oboInOwl:id "DOID:5831"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3706 . obo:DOID_5832 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5832"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic endometrioid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5834 oboInOwl:hasDbXref "NCI:C39921"^^xsd:string, "SNOMEDCT_US_2021_03_01:9294008"^^xsd:string, "UMLS_CUI:C0334517"^^xsd:string ; oboInOwl:hasExactSynonym "Spermatocytic Seminoma"@en, "Spermatocytic seminoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5834"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, obo:DOID_2998, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000019 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_5838 oboInOwl:hasAlternativeId "DOID:6136"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7327"^^xsd:string, "UMLS_CUI:C1333502"^^xsd:string ; oboInOwl:hasExactSynonym "primary extragonadal seminoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extragonadal seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4440 . obo:DOID_5842 oboInOwl:hasDbXref "MESH:D018239"^^xsd:string, "NCI:C9309"^^xsd:string, "SNOMEDCT_US_2021_03_01:443675005"^^xsd:string, "UMLS_CUI:C0036631"^^xsd:string ; oboInOwl:hasExactSynonym "Seminoma of testis"@en, "Seminoma testis"@en, "testicular Seminoma Pure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5842"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testis seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, obo:DOID_2998, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000019 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_5843 oboInOwl:hasDbXref "NCI:C36068"^^xsd:string, "UMLS_CUI:C3642318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posteroinferior myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5844 obo:IAO_0000115 "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000612"^^xsd:string, "ICD10CM:I21"^^xsd:string, "MESH:D009203"^^xsd:string, "NCI:C27996"^^xsd:string, "OMIM:608557"^^xsd:string, "SNOMEDCT_US_2021_03_01:66514008"^^xsd:string, "UMLS_CUI:C0027051"^^xsd:string ; oboInOwl:hasExactSynonym "Myocardial infarct"@en, "heart attack"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_3393, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_5845 oboInOwl:hasDbXref "MESH:D056988"^^xsd:string, "UMLS_CUI:C0262564"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5845"^^xsd:string ; a owl:Class ; rdfs:label "anterolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5846 oboInOwl:hasDbXref "UMLS_CUI:C0746727"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5846"^^xsd:string ; a owl:Class ; rdfs:label "septal myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5847 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:194800006"^^xsd:string, "UMLS_CUI:C0340319"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior myocardial infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5847"^^xsd:string ; a owl:Class ; rdfs:label "posterior myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5848 oboInOwl:hasDbXref "NCI:C36073"^^xsd:string, "UMLS_CUI:C3642319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apical myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5849 oboInOwl:hasDbXref "NCI:C35305"^^xsd:string, "UMLS_CUI:C3642476"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subendocardial myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_585 obo:IAO_0000115 "A kidney disease characterized by the formation of stoney concentrations in the kidneys."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004253"^^xsd:string, "ICD10CM:N20"^^xsd:string, "ICD9CM:592"^^xsd:string, "SNOMEDCT_US_2021_03_01:155867005"^^xsd:string, "UMLS_CUI:C0156257"^^xsd:string ; oboInOwl:hasExactSynonym "Stone - kidney/ureter"@en, "kidney stones"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:585"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nephrolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 ; skos:exactMatch "MESH:D053040"^^xsd:string . obo:DOID_5850 oboInOwl:hasDbXref "MESH:D056989"^^xsd:string, "SNOMEDCT_US_2021_03_01:194804002"^^xsd:string, "UMLS_CUI:C0340305"^^xsd:string ; oboInOwl:hasExactSynonym "Inferior myocardial infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5850"^^xsd:string ; a owl:Class ; rdfs:label "inferior myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5851 oboInOwl:hasDbXref "NCI:C35672"^^xsd:string, "UMLS_CUI:C3642463"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5851"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5852 oboInOwl:hasDbXref "NCI:C35673"^^xsd:string, "UMLS_CUI:C3537017"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inferolateral myocardial infarct"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5853 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:194801005"^^xsd:string, "UMLS_CUI:C0340312"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral myocardial infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5853"^^xsd:string ; a owl:Class ; rdfs:label "lateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5854 oboInOwl:hasDbXref "NCI:C35400"^^xsd:string, "SNOMEDCT_US_2021_03_01:194796000"^^xsd:string, "UMLS_CUI:C0340324"^^xsd:string ; oboInOwl:hasExactSynonym "Silent myocardial infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5854"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "silent myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5855 oboInOwl:hasDbXref "MESH:D056988"^^xsd:string, "UMLS_CUI:C0262565"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5855"^^xsd:string ; a owl:Class ; rdfs:label "anteroseptal myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_5857 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5857"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary chondrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5859 oboInOwl:hasExactSynonym "Periosteal chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5859"^^xsd:string ; a owl:Class ; rdfs:label "periosteal chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_5861 oboInOwl:hasDbXref "ICDO:9231/3"^^xsd:string, "NCI:C4303"^^xsd:string, "SNOMEDCT_US_2021_03_01:75622000"^^xsd:string, "UMLS_CUI:C0334551"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxoid chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_5862 oboInOwl:hasDbXref "NCI:C8778"^^xsd:string, "UMLS_CUI:C0855011"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5862"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "localized chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_5863 oboInOwl:hasExactSynonym "relapsed chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5863"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent chondrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5865 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5865"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic chondrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_5866 oboInOwl:hasDbXref "NCI:C7357"^^xsd:string, "SNOMEDCT_US_2021_03_01:26211003"^^xsd:string, "UMLS_CUI:C0334549"^^xsd:string ; oboInOwl:hasExactSynonym "Juxtacortical chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5866"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "juxtacortical chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_5867 oboInOwl:hasDbXref "MESH:D000077207"^^xsd:string, "NCI:C6475"^^xsd:string, "SNOMEDCT_US_2021_03_01:128775007"^^xsd:string, "UMLS_CUI:C1266167"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5867"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_587 obo:IAO_0000115 "A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum."^^xsd:string ; oboInOwl:hasExactSynonym "cavitary tuberculosis"@en, "tuberculous cavity of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:587"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous lung cavity"^^xsd:string ; owl:deprecated true . obo:DOID_5870 obo:IAO_0000115 "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night."^^xsd:string ; oboInOwl:hasDbXref "GARD:107"^^xsd:string, "ICD10CM:J82.81"^^xsd:string, "MESH:D011657"^^xsd:string, "NCI:C35150"^^xsd:string, "SNOMEDCT_US_2021_03_01:196145005"^^xsd:string, "UMLS_CUI:C1527407"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia, eosinophilic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000975 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000354 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_5872 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5872"^^xsd:string ; a owl:Class ; rdfs:label "obsolete placental necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_5874 oboInOwl:hasDbXref "NCI:C6447"^^xsd:string, "UMLS_CUI:C1335776"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell tumor of Retroperitoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5874"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal germ cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5875 . obo:DOID_5875 obo:IAO_0000115 "An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12340"^^xsd:string, "DOID:9860"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C48"^^xsd:string, "ICD10CM:C48.0"^^xsd:string, "ICD9CM:158"^^xsd:string, "ICD9CM:158.0"^^xsd:string, "MESH:D012186"^^xsd:string, "NCI:C3357"^^xsd:string, "NCI:C3537"^^xsd:string, "SNOMEDCT_US_2021_03_01:187801002"^^xsd:string, "SNOMEDCT_US_2021_03_01:254617008"^^xsd:string, "SNOMEDCT_US_2021_03_01:363420003"^^xsd:string, "UMLS_CUI:C0035358"^^xsd:string, "UMLS_CUI:C0153464"^^xsd:string, "UMLS_CUI:C0153465"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of retroperitoneum and peritoneum"@en, "malignant tumor of peritoneum and retroperitoneum"@en, "neoplasm of retroperitoneum"@en, "neoplasm of the retroperitoneum"@en, "retroperitoneal neoplasm"@en, "tumor of retroperitoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "malignant neoplasm of retroperitoneum"@en, "malignant retroperitoneal cancer"@en ; oboInOwl:id "DOID:5875"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003693 ] ) ] . obo:DOID_5876 oboInOwl:hasDbXref "NCI:C6798"^^xsd:string, "UMLS_CUI:C1332318"^^xsd:string ; oboInOwl:hasExactSynonym "Apocrine tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5876"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apocrine sweat gland neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2664 . obo:DOID_5877 oboInOwl:hasAlternativeId "DOID:14538"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4570"^^xsd:string, "NCI:C5346"^^xsd:string, "SNOMEDCT_US_2021_03_01:126731002"^^xsd:string, "SNOMEDCT_US_2021_03_01:363436001"^^xsd:string, "UMLS_CUI:C0346612"^^xsd:string, "UMLS_CUI:C1290401"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Endocardial tumor"@en, "malignant neoplasm of endocardium"@en, "malignant tumor of endocardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5877"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocardium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050825, obo:DOID_117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002165 ] ) ] . obo:DOID_5884 oboInOwl:hasDbXref "NCI:C7635"^^xsd:string, "SNOMEDCT_US_2021_03_01:734100004"^^xsd:string, "UMLS_CUI:C1337012"^^xsd:string ; oboInOwl:hasExactSynonym "Well-differentiated Papillary tumor of Mesothelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5884"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign intermediate mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2645 . obo:DOID_5886 oboInOwl:hasExactSynonym "mixed Embryonal carcinoma and teratoma with Seminoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5886"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_5888 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5888"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital cystic kidney disease"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_5889 oboInOwl:hasExactSynonym "Ependymoma, anaplastic"@en, "Undifferentiated Ependymoma"@en, "anaplastic ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5889"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5074 . obo:DOID_589 oboInOwl:hasDbXref "GARD:6167"^^xsd:string, "ICD10CM:D58.9"^^xsd:string, "ICD9CM:282"^^xsd:string, "MESH:D000745"^^xsd:string, "NCI:C34379"^^xsd:string, "SNOMEDCT_US_2021_03_01:42601008"^^xsd:string, "UMLS_CUI:C0002881"^^xsd:string ; oboInOwl:hasExactSynonym "congenital hemolytic anaemia"@en, "hereditary hemolytic anaemia"@en, "hereditary hemolytic anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:589"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_583, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_5890 oboInOwl:hasDbXref "NCI:C8269"^^xsd:string, "UMLS_CUI:C0280787"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5890"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant adult ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5074, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5893 oboInOwl:hasDbXref "NCI:C8097"^^xsd:string, "UMLS_CUI:C0279991"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5893"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood malignant mesenchymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5758, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_5894 oboInOwl:hasDbXref "NCI:C7947"^^xsd:string, "UMLS_CUI:C0279548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5894"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult malignant mesenchymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5758, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5895 obo:IAO_0000115 "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8988"^^xsd:string, "SNOMEDCT_US_2021_03_01:58161009"^^xsd:string, "UMLS_CUI:C1377853"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell cystadenofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5895"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5482 . obo:DOID_5896 obo:IAO_0000115 "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40086"^^xsd:string, "UMLS_CUI:C1518695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5896"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian clear cell cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5897 . obo:DOID_5897 obo:IAO_0000115 "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40085"^^xsd:string, "UMLS_CUI:C1518694"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5897"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian clear cell adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_5900 oboInOwl:hasDbXref "NCI:C4662"^^xsd:string, "SNOMEDCT_US_2021_03_01:128730009"^^xsd:string, "UMLS_CUI:C1266113"^^xsd:string ; oboInOwl:hasExactSynonym "Leptomeningeal melanocytoma"@en, "melanocytoma of meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5900"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningeal melanocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4955 . obo:DOID_5907 oboInOwl:hasDbXref "NCI:C27791"^^xsd:string, "UMLS_CUI:C1334984"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Invasive Penile verrucous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5907"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis non-invasive verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5908 . obo:DOID_5908 oboInOwl:hasDbXref "NCI:C6982"^^xsd:string, "UMLS_CUI:C1336955"^^xsd:string ; oboInOwl:hasExactSynonym "verrucous squamous carcinoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5908"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5518 . obo:DOID_591 obo:IAO_0000115 "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F40"^^xsd:string, "ICD9CM:300.20"^^xsd:string, "MESH:D010698"^^xsd:string, "NCI:C35420"^^xsd:string, "SNOMEDCT_US_2021_03_01:52039009"^^xsd:string, "UMLS_CUI:C0349231"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:591"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "phobic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_5913 oboInOwl:hasDbXref "NCI:C5823"^^xsd:string, "UMLS_CUI:C1332602"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the Brachial Plexus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brachial plexus neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4693 . obo:DOID_5914 oboInOwl:hasDbXref "NCI:C7427"^^xsd:string, "SNOMEDCT_US_2021_03_01:62681000"^^xsd:string, "UMLS_CUI:C0334330"^^xsd:string ; oboInOwl:hasExactSynonym "Nonencapsulated Sclerosing neoplasm"@en, "Papillary carcinoma, diffuse sclerosing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5914"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nonencapsulated sclerosing carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3969 . obo:DOID_5915 obo:IAO_0000115 "An uterine corpus leiomyomatosis that is located_in the blood vessels."^^xsd:string ; oboInOwl:hasExactSynonym "Intravascular leiomyomatosis of Uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5915"^^xsd:string ; a owl:Class ; rdfs:label "uterus intravascular leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5916, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_5916 obo:IAO_0000115 "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40170"^^xsd:string, "UMLS_CUI:C1519855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5916"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_5917 obo:IAO_0000115 "An uterine corpus leiomyomatosis that is located throughout the uterine corpus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5917"^^xsd:string ; a owl:Class ; rdfs:label "uterine corpus diffuse leiomyomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5916 . obo:DOID_5918 oboInOwl:hasExactSynonym "localized Unresectable adult Liver carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5918"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized unresectable adult primary liver cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5919 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized unresectable adult primary hepatoma"^^xsd:string ; owl:deprecated true . obo:DOID_5920 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5920"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant fibrous histiocytoma metastatic"^^xsd:string ; owl:deprecated true . obo:DOID_5921 oboInOwl:hasDbXref "NCI:C9371"^^xsd:string, "UMLS_CUI:C1377915"^^xsd:string ; oboInOwl:hasExactSynonym "adult brain stem mixed glioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5921"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult brainstem mixed glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4813, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5922 oboInOwl:hasDbXref "NCI:C6954"^^xsd:string, "UMLS_CUI:C1332191"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5922"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult brainstem astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4813, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_5923 oboInOwl:hasDbXref "NCI:C7109"^^xsd:string, "UMLS_CUI:C1333308"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the Distal biliary tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "distal biliary tract carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4897 . obo:DOID_5924 oboInOwl:hasExactSynonym "recurrent extrahepatic bile duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5924"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent extrahepatic bile duct cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5926 oboInOwl:hasDbXref "NCI:C5845"^^xsd:string, "UMLS_CUI:C1335979"^^xsd:string ; oboInOwl:hasExactSynonym "Oat cell extrahepatic bile duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5926"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct small cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3495 . obo:DOID_5928 oboInOwl:hasExactSynonym "Autosomal Recessive Polycystic kidney disease"@en, "Polycystic kidney disease, infantile type (disorder)"@en, "Polycystic kidney, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5928"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal recessive polycystic kidney"^^xsd:string ; owl:deprecated true . obo:DOID_593 obo:IAO_0000115 "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F40.0"^^xsd:string, "MESH:D000379"^^xsd:string, "NCI:C34362"^^xsd:string, "SNOMEDCT_US_2021_03_01:154885006"^^xsd:string, "UMLS_CUI:C0001818"^^xsd:string ; oboInOwl:hasExactSynonym "Fear of open spaces"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "agoraphobia"^^xsd:string ; rdfs:subClassOf obo:DOID_591 . obo:DOID_5931 oboInOwl:hasExactSynonym "Unresectable extrahepatic bile duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5931"^^xsd:string ; a owl:Class ; rdfs:label "obsolete unresectable extrahepatic bile duct cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5933 oboInOwl:hasExactSynonym "Resectable bile duct cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5933"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable bile duct cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5934 oboInOwl:hasExactSynonym "localized extrahepatic bile duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5934"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized extrahepatic bile duct cancer"^^xsd:string ; owl:deprecated true . obo:DOID_5936 obo:IAO_0000115 "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8114"^^xsd:string, "UMLS_CUI:C0280135"^^xsd:string ; oboInOwl:hasExactSynonym "mixed germ cell tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mixed germ cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5351 . obo:DOID_5937 oboInOwl:hasExactSynonym "Polycystic kidney disease, adult type (disorder)"@en, "Polycystic kidney, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5937"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant polycystic kidney"^^xsd:string ; owl:deprecated true . obo:DOID_594 obo:IAO_0000115 "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004262"^^xsd:string, "ICD10CM:F41.0"^^xsd:string, "MESH:D016584"^^xsd:string, "NCI:C34890"^^xsd:string, "OMIM:167870"^^xsd:string, "OMIM:607853"^^xsd:string, "OMIM:609985"^^xsd:string, "SNOMEDCT_US_2021_03_01:191705007"^^xsd:string, "UMLS_CUI:C0030319"^^xsd:string ; oboInOwl:hasExactSynonym "panic anxiety syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "panic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000530 ] . obo:DOID_5940 oboInOwl:hasDbXref "GARD:10872"^^xsd:string, "ICDO:9540/3"^^xsd:string, "MESH:D018319"^^xsd:string, "NCI:C3798"^^xsd:string, "SNOMEDCT_US_2021_03_01:134324009"^^xsd:string, "UMLS_CUI:C0751690"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of the peripheral nerve Sheath"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5940"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant peripheral nerve sheath tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3193 . obo:DOID_5941 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5941"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung carcinoma metastatic to the brain"^^xsd:string ; owl:deprecated true . obo:DOID_5948 oboInOwl:hasDbXref "NCI:C3927"^^xsd:string, "SNOMEDCT_US_2021_03_01:62727008"^^xsd:string, "UMLS_CUI:C0263640"^^xsd:string ; oboInOwl:hasExactSynonym "Angiokeratoma of Mibelli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiokeratoma of mibelli"^^xsd:string ; rdfs:subClassOf obo:DOID_479 . obo:DOID_5949 oboInOwl:hasDbXref "NCI:C7751"^^xsd:string, "SNOMEDCT_US_2021_03_01:21848000"^^xsd:string, "UMLS_CUI:C0263638"^^xsd:string ; oboInOwl:hasExactSynonym "Angiokeratoma circumscriptum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiokeratoma circumscriptum"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_5957 oboInOwl:hasDbXref "NCI:C39845"^^xsd:string, "UMLS_CUI:C1511206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5957"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urachal squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5958, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_5958 oboInOwl:hasDbXref "MESH:C536475"^^xsd:string, "NCI:C39842"^^xsd:string, "UMLS_CUI:C2931202"^^xsd:string ; oboInOwl:hasExactSynonym "urachal cancer"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5958"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urachal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11817, obo:DOID_4007, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002068 ] . obo:DOID_5963 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5963"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schistosoma hematobium-related bladder squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5973 obo:IAO_0000115 "A papillary carcinoma that is located_in the kidney pelvis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6148"^^xsd:string, "UMLS_CUI:C1377909"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma of renal Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5973"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney pelvis papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5974 . obo:DOID_5974 oboInOwl:hasDbXref "NCI:C7355"^^xsd:string ; oboInOwl:hasExactSynonym "Urothelial cell carcinoma of renal Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5974"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_4919, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001224 ] . obo:DOID_5975 oboInOwl:hasDbXref "NCI:C8603"^^xsd:string, "UMLS_CUI:C0853688"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary neoplasm of renal Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5975"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis papillary tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5977 . obo:DOID_5976 oboInOwl:hasAlternativeId "DOID:10961"^^xsd:string, "DOID:1547"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I65.9"^^xsd:string, "ICD9CM:433.9"^^xsd:string, "UMLS_CUI:C0155727"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Occlusion and stenosis of multiple and bilateral precerebral arteries"@en, "occlusion and stenosis of precerebral artery"@en ; oboInOwl:id "DOID:5976"^^xsd:string ; a owl:Class ; rdfs:label "occlusion precerebral artery"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 . obo:DOID_5977 oboInOwl:hasDbXref "NCI:C8404"^^xsd:string, "SNOMEDCT_US_2021_03_01:126881002"^^xsd:string, "UMLS_CUI:C0346260"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of renal pelvis"@en, "tumor of kidney Pelvis"@en, "tumor of renal pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5977"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3116 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001224 ] ) ] . obo:DOID_5979 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5978"^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related Vulvar squamous cell carcinoma"@en, "vulvar condylomatous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related vulvar squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_5980 oboInOwl:hasExactSynonym "Undifferentiated Hemispheric astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hemispheric anaplastic astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_5981 oboInOwl:hasExactSynonym "Hypothalamic hamartoma"@en, "hamartoma of hypothalamus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5981"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of hypothalamus"^^xsd:string ; owl:deprecated true . obo:DOID_5982 oboInOwl:hasDbXref "NCI:C7726"^^xsd:string, "UMLS_CUI:C0238208"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosarcoma of the kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5982"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4242 . obo:DOID_5983 obo:IAO_0000115 "A kidney sarcoma that starts in the bones and that is located in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6181"^^xsd:string, "UMLS_CUI:C1335747"^^xsd:string ; oboInOwl:hasExactSynonym "renal Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5983"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4242 . obo:DOID_5989 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5989"^^xsd:string ; a owl:Class ; rdfs:label "obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres"^^xsd:string ; owl:deprecated true . obo:DOID_599 obo:IAO_0000115 "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F40.2"^^xsd:string, "MESH:C562465"^^xsd:string, "NCI:C35284"^^xsd:string, "OMIM:608251"^^xsd:string, "SNOMEDCT_US_2021_03_01:54587008"^^xsd:string, "UMLS_CUI:C0236801"^^xsd:string ; oboInOwl:hasExactSynonym "simple phobia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:599"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "specific phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_591 . obo:DOID_5990 oboInOwl:hasDbXref "NCI:C5307"^^xsd:string, "UMLS_CUI:C1334227"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Internal Auditory canal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5990"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "internal auditory canal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5102 . obo:DOID_5991 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5991"^^xsd:string ; a owl:Class ; rdfs:label "obsolete early onset breast ovarian cancer syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_5996 oboInOwl:hasDbXref "NCI:C6941"^^xsd:string, "UMLS_CUI:C1332573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blunt duct adenosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_5998 . obo:DOID_5997 obo:IAO_0000115 "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6943"^^xsd:string, "UMLS_CUI:C1332628"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Proliferative Fibrocystic Change"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "non-proliferative fibrocystic change of the breast"^^xsd:string ; rdfs:subClassOf obo:DOID_10354 . obo:DOID_5998 obo:IAO_0000115 "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005348"^^xsd:string, "NCI:C3484"^^xsd:string, "SNOMEDCT_US_2021_03_01:270893004"^^xsd:string, "UMLS_CUI:C0085750"^^xsd:string ; oboInOwl:hasExactSynonym "Adenosis - breast"@en, "Adenosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microglandular adenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_5999 obo:IAO_0000115 "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5198"^^xsd:string, "UMLS_CUI:C1332314"^^xsd:string ; oboInOwl:hasExactSynonym "Apocrine Adenosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:5999"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "apocrine adenosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_5997 . obo:DOID_600 obo:IAO_0000115 "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35273"^^xsd:string, "SNOMEDCT_US_2021_03_01:54307006"^^xsd:string, "UMLS_CUI:C0233711"^^xsd:string ; oboInOwl:hasExactSynonym "Fear of animals"@en, "Zoophobia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:600"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "animal phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_599 . obo:DOID_6000 obo:IAO_0000115 "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:395"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I50"^^xsd:string, "ICD10CM:I50.9"^^xsd:string, "ICD9CM:428"^^xsd:string, "ICD9CM:428.0"^^xsd:string, "MESH:D006333"^^xsd:string, "NCI:C3080"^^xsd:string, "NCI:C50577"^^xsd:string, "SNOMEDCT_US_2021_03_01:155374007"^^xsd:string, "SNOMEDCT_US_2021_03_01:195108009"^^xsd:string, "UMLS_CUI:C0018801"^^xsd:string, "UMLS_CUI:C0018802"^^xsd:string ; oboInOwl:hasExactSynonym "CHF"@en, "Cardiac Failure Congestive"@en, "Congestive heart disease"@en, "Weak heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6000"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congestive heart failure"^^xsd:string ; rdfs:subClassOf obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_60000 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the appendix."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60000"^^xsd:string ; a owl:Class ; rdfs:label "appendix disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001154 ] ) ] . obo:DOID_60001 obo:IAO_0000115 "An artery disease that is located in the lungs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60001"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050828 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_60002 obo:IAO_0000115 "A female reproductive system disease that is located in Bartholin's gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60002"^^xsd:string ; a owl:Class ; rdfs:label "Bartholin's gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] ) ] . obo:DOID_60003 obo:IAO_0000115 "A vulva cancer that is located in Bartholin's gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60003"^^xsd:string ; a owl:Class ; rdfs:label "Bartholin's gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245, obo:DOID_60002 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] ) ] . obo:DOID_60004 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60004"^^xsd:string ; a owl:Class ; rdfs:label "malignant cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080364 . obo:DOID_60006 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60006"^^xsd:string ; a owl:Class ; rdfs:label "benign vascular tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060091 . obo:DOID_60007 obo:IAO_0000115 "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60007"^^xsd:string ; a owl:Class ; rdfs:label "cerebrovascular benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060091 . obo:DOID_60008 obo:IAO_0000115 "An endocrine organ benign neoplasm that is located_in some parathyroid gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60008"^^xsd:string ; a owl:Class ; rdfs:label "parathyroid gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_11201, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001132 ] . obo:DOID_60009 obo:IAO_0000115 "A benign neoplasm located in the pituitary gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:60009"^^xsd:string ; a owl:Class ; rdfs:label "pituitary gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_53 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000007 ] ) ] . obo:DOID_6001 obo:IAO_0000115 "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5185"^^xsd:string, "UMLS_CUI:C1332630"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosarcoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_6003 obo:IAO_0000115 "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4983"^^xsd:string, "UMLS_CUI:C0887846"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aleukemic leukemia cutis"^^xsd:string ; rdfs:subClassOf obo:DOID_6004 . obo:DOID_6004 obo:IAO_0000115 "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4982"^^xsd:string, "SNOMEDCT_US_2021_03_01:154602005"^^xsd:string, "UMLS_CUI:C0877858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "aleukemic myelosis"@en ; oboInOwl:id "DOID:6004"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aleukemic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_6013 oboInOwl:hasExactSynonym "Embryonal carcinoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "embryonal carcinoma of the mediastinum"@en ; oboInOwl:id "DOID:6013"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinum embryonal carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6014 oboInOwl:hasAlternativeId "DOID:5558"^^xsd:string ; oboInOwl:hasExactSynonym "germ cell tumor of mediastinum"@en, "malignant germ cell tumor of mediastinum"@en, "mediastinal germ cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6014"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinal germ cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6015 oboInOwl:hasDbXref "NCI:C5794"^^xsd:string, "UMLS_CUI:C1370506"^^xsd:string ; oboInOwl:hasExactSynonym "teratoma of the adult central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6015"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3640, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6016 oboInOwl:hasDbXref "NCI:C27400"^^xsd:string, "UMLS_CUI:C1332194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system mature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6015, obo:DOID_6017, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6017 obo:IAO_0000115 "A mature teratoma that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7013"^^xsd:string, "UMLS_CUI:C1332886"^^xsd:string ; oboInOwl:hasExactSynonym "Mature teratoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6017"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system mature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3640 . obo:DOID_6018 oboInOwl:hasDbXref "NCI:C27401"^^xsd:string, "UMLS_CUI:C1332193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6018"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system immature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6015, obo:DOID_6019, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6019 obo:IAO_0000115 "A malignant teratoma that is located_in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7014"^^xsd:string, "UMLS_CUI:C1332883"^^xsd:string ; oboInOwl:hasExactSynonym "Immature teratoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6019"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system immature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3640 . obo:DOID_602 oboInOwl:hasDbXref "NCI:C35492"^^xsd:string, "SNOMEDCT_US_2021_03_01:34563004"^^xsd:string, "UMLS_CUI:C0233705"^^xsd:string ; oboInOwl:hasExactSynonym "Fear of getting cancer"@en, "cancer phobia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cancerophobia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060048 . obo:DOID_6020 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic MPNST"^^xsd:string ; owl:deprecated true . obo:DOID_6021 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6021"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsolete malignant testicular Leydig cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6022 oboInOwl:hasExactSynonym "melanoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_6023 oboInOwl:hasExactSynonym "metastatic tumor to the Parathyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6023"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the parathyroid gland"^^xsd:string ; owl:deprecated true . obo:DOID_6024 obo:IAO_0000115 "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27143"^^xsd:string, "SNOMEDCT_US_2021_03_01:234540007"^^xsd:string, "UMLS_CUI:C0398694"^^xsd:string ; oboInOwl:hasExactSynonym "Selective IgE Immunodeficiency"@en, "Selective immunoglobulin E deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "selective IgE deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_6025 obo:IAO_0000115 "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27870"^^xsd:string, "UMLS_CUI:C1335942"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6025"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "selective immunoglobulin deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2115 . obo:DOID_603 oboInOwl:hasDbXref "NCI:C35614"^^xsd:string, "UMLS_CUI:C0853870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "AIDS phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060048 . obo:DOID_6031 oboInOwl:hasExactSynonym "Disseminated squamous cell carcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6031"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6032 oboInOwl:hasAlternativeId "DOID:5332"^^xsd:string ; oboInOwl:hasDbXref "NCI:C39947"^^xsd:string, "NCI:C4207"^^xsd:string, "SNOMEDCT_US_2021_03_01:189735004"^^xsd:string, "UMLS_CUI:C0334403"^^xsd:string, "UMLS_CUI:C1515285"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile granulosa cell tumor"@en, "Juvenile granulosa cell tumour"@en, "Juvenile type Granulosa cell tumor"@en, "Juvenile type Granulosa cell tumour"@en, "juvenile type granulosa cell neoplasm"@en, "juvenile type testicular granulosa cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6032"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "juvenile type testicular granulosa cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5331, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_6033 oboInOwl:hasDbXref "NCI:C5361"^^xsd:string, "UMLS_CUI:C1332844"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosarcoma of the Heart"@en, "cardiac fibrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6033"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5262 . obo:DOID_6034 obo:IAO_0000115 "A heart sarcoma that is a soft tissue sarcoma located in the heart."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5365"^^xsd:string, "UMLS_CUI:C1334567"^^xsd:string ; oboInOwl:hasExactSynonym "malignant hemangiopericytoma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6034"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart malignant hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5262 . obo:DOID_6037 obo:IAO_0000115 "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7986"^^xsd:string, "UMLS_CUI:C0279687"^^xsd:string ; oboInOwl:hasExactSynonym "Uveal spindle cell melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6037"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell intraocular melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1752 . obo:DOID_6039 obo:IAO_0000115 "A uveal cancer that has_material_basis_in uvea pigment cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536494"^^xsd:string, "NCI:C7712"^^xsd:string, "OMIM:155720"^^xsd:string, "OMIM:606660"^^xsd:string, "OMIM:606661"^^xsd:string, "ORDO:39044"^^xsd:string, "UMLS_CUI:C0220633"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of Uvea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6039"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "uveal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_3479, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] . obo:DOID_6041 obo:IAO_0000115 "A malignant choroid melanoma that is located_in the choroid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6099"^^xsd:string, "UMLS_CUI:C1333027"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell melanoma of the Choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6041"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid spindle cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_6438, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] . obo:DOID_6043 obo:IAO_0000115 "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6117"^^xsd:string, "UMLS_CUI:C1333052"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell melanoma of the Ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ciliary body spindle cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_4352, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001775 ] . obo:DOID_6045 obo:IAO_0000115 "A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6045"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete AIDS retinopathy"^^xsd:string ; owl:deprecated true . obo:DOID_6048 oboInOwl:hasDbXref "NCI:C5345"^^xsd:string, "UMLS_CUI:C1336699"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6048"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "telangiectatic glomangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2435 . obo:DOID_605 obo:IAO_0000115 "A specific phobia that is characterized by a fear of flying."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35413"^^xsd:string, "SNOMEDCT_US_2021_03_01:192045005"^^xsd:string, "UMLS_CUI:C0344318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:605"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "flying phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_599 . obo:DOID_6050 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the esophagus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10117"^^xsd:string, "DOID:10118"^^xsd:string, "DOID:11798"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K22.9"^^xsd:string, "ICD9CM:530.9"^^xsd:string, "MESH:D004935"^^xsd:string, "NCI:C3027"^^xsd:string, "SNOMEDCT_US_2021_03_01:266497000"^^xsd:string, "UMLS_CUI:C0014852"^^xsd:string ; oboInOwl:hasExactSynonym "esophageal Ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6050"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_6052 oboInOwl:hasDbXref "NCI:C6205"^^xsd:string, "UMLS_CUI:C0278754"^^xsd:string ; oboInOwl:hasExactSynonym "central nervous system childhood germ cell tumour"@en, "paediatric germ cell neoplasm of CNS"@en, "pediatric germ cell neoplasm of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6052"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system childhood germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_6053 obo:IAO_0000115 "A germ cell cancer that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7928"^^xsd:string, "UMLS_CUI:C0279014"^^xsd:string ; oboInOwl:hasExactSynonym "paediatric germ cell cancer"@en, "paediatric germ cell neoplasm"@en, "pediatric germ cell cancer"^^xsd:string, "pediatric germ cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "pediatric germ cell tumor"@en ; oboInOwl:id "DOID:6053"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6054 oboInOwl:hasDbXref "NCI:C6837"^^xsd:string, "UMLS_CUI:C1333645"^^xsd:string ; oboInOwl:hasExactSynonym "Schneiderian papilloma of the Frontal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinus Schneiderian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1361 . obo:DOID_6055 oboInOwl:hasExactSynonym "Schneiderian papilloma of Accessory sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6055"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranasal sinus Schneiderian papilloma"^^xsd:string ; owl:deprecated true . obo:DOID_6059 oboInOwl:hasDbXref "NCI:C4369"^^xsd:string, "SNOMEDCT_US_2021_03_01:232364006"^^xsd:string, "UMLS_CUI:C0339826"^^xsd:string ; oboInOwl:hasExactSynonym "papilloma of nasal vestibule"@en, "squamous papilloma of the nasal Vestibule"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6059"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal vestibule papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_606 oboInOwl:hasDbXref "GARD:5964"^^xsd:string, "ICD10CM:G83.81"^^xsd:string, "MESH:D018437"^^xsd:string, "NCI:C84601"^^xsd:string, "SNOMEDCT_US_2021_03_01:27982003"^^xsd:string, "UMLS_CUI:C0242644"^^xsd:string ; oboInOwl:hasExactSynonym "Brown-Squard syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Brown-Sequard syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_607 . obo:DOID_6065 oboInOwl:hasDbXref "NCI:C39854"^^xsd:string, "UMLS_CUI:C1518361"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6065"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary tract non-invasive transitional cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5433 . obo:DOID_6067 obo:IAO_0000115 "An ovary epithelial cancer that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3712"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40033"^^xsd:string, "NCI:C5242"^^xsd:string, "SNOMEDCT_US_2021_03_01:189683008"^^xsd:string, "UMLS_CUI:C1335168"^^xsd:string, "UMLS_CUI:C1518233"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian mucinous tumor"@en, "malignant ovarian mucinous neoplasm"@en, "mucinous tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6067"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2152 . obo:DOID_607 oboInOwl:hasDbXref "GARD:7327"^^xsd:string, "ICD10CM:G82.2"^^xsd:string, "ICD9CM:344.1"^^xsd:string, "MESH:D010264"^^xsd:string, "NCI:C50687"^^xsd:string, "SNOMEDCT_US_2021_03_01:155031004"^^xsd:string, "UMLS_CUI:C0030486"^^xsd:string ; oboInOwl:hasExactSynonym "Paraplegia, lower"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paraplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_6071 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6071"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable duodenal carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6077 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized malignant mesothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_6078 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6078"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the nervous system"^^xsd:string ; owl:deprecated true . obo:DOID_6079 oboInOwl:hasExactSynonym "Drop metastatic tumor to the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6079"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drop secondary malignant neoplasm to the spinal cord"^^xsd:string ; owl:deprecated true . obo:DOID_6080 oboInOwl:hasExactSynonym "metastatic tumor to the Spinal Cord"@en, "secondary malignant neoplasm of spinal cord (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6080"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinal cord secondary cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6081 oboInOwl:hasExactSynonym "pediatric testicular Yolk Sac tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6081"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood testicular endodermal sinus neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_6082 oboInOwl:hasDbXref "NCI:C6552"^^xsd:string, "UMLS_CUI:C0796663"^^xsd:string ; oboInOwl:hasExactSynonym "paediatric testicular germ cell neoplasm"@en, "paediatric testicular germ cell tumour"@en, "pediatric testicular germ cell neoplasm"@en, "pediatric testicular germ cell tumor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6082"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood testicular germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5557, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6083 obo:IAO_0000115 "An ovarian endodermal sinus tumor that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6551"^^xsd:string, "UMLS_CUI:C1332993"^^xsd:string ; oboInOwl:hasExactSynonym "childhood ovarian endodermal sinus neoplasm"@en, "childhood ovarian endodermal sinus tumour"@en, "childhood ovarian yolk sac tumor"@en, "childhood ovarian yolk sac tumour"@en, "paediatric Ovarian Yolk Sac tumour"@en, "pediatric Ovarian Yolk Sac tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6083"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood ovarian endodermal sinus tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5350, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6084 obo:IAO_0000115 "An ovarian germ cell cancer that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8588"^^xsd:string, "UMLS_CUI:C0796664"^^xsd:string ; oboInOwl:hasExactSynonym "paediatric Ovarian germ cell neoplasm"@en, "paediatric ovarian germ cell tumour"@en, "pediatric Ovarian germ cell neoplasm"@en, "pediatric ovarian germ cell tumor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6084"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood ovarian germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2156, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6085 oboInOwl:hasDbXref "NCI:C5317"^^xsd:string, "SNOMEDCT_US_2021_03_01:726420002"^^xsd:string, "UMLS_CUI:C1334386"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of the leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6085"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningeal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6086 . obo:DOID_6086 oboInOwl:hasDbXref "NCI:C8506"^^xsd:string, "UMLS_CUI:C1334596"^^xsd:string ; oboInOwl:hasExactSynonym "malignant leptomeningeal tumour"@en, "malignant tumor of Leptomeninges"@en, "malignant tumour of Leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6086"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant leptomeningeal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_6087 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6087"^^xsd:string ; a owl:Class ; rdfs:label "obsolete predominant disturbance of emotions"^^xsd:string ; owl:deprecated true . obo:DOID_6088 obo:IAO_0000115 "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:308.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:192043003"^^xsd:string, "UMLS_CUI:C0029488"^^xsd:string ; oboInOwl:hasExactSynonym "traumatic stress disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6088"^^xsd:string ; a owl:Class ; rdfs:label "acute stress disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_6089 oboInOwl:hasDbXref "NCI:C5318"^^xsd:string, "UMLS_CUI:C1332976"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric leptomeningeal melanoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6089"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood leptomeningeal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6085, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_609 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:609"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_6090 oboInOwl:hasDbXref "NCI:C5319"^^xsd:string, "UMLS_CUI:C1332204"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of adult Leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6090"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult leptomeningeal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6085, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6091 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ampulla of vater intestinal type adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6098 oboInOwl:hasAlternativeId "DOID:6096"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4576"^^xsd:string, "NCI:C6221"^^xsd:string, "SNOMEDCT_US_2021_03_01:188287005"^^xsd:string, "UMLS_CUI:C0346902"^^xsd:string, "UMLS_CUI:C1336733"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of thalamus"@en, "malignant tumor of Thalamus"@en, "tumor of Thalamus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thalamic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3843 . obo:DOID_61 oboInOwl:hasAlternativeId "DOID:11505"^^xsd:string, "DOID:58"^^xsd:string, "DOID:59"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I05"^^xsd:string, "ICD10CM:I05.1"^^xsd:string, "ICD9CM:394"^^xsd:string, "ICD9CM:394.1"^^xsd:string, "ICD9CM:424.0"^^xsd:string, "NCI:C78446"^^xsd:string, "SNOMEDCT_US_2021_03_01:11851006"^^xsd:string, "SNOMEDCT_US_2021_03_01:155278007"^^xsd:string, "SNOMEDCT_US_2021_03_01:83898004"^^xsd:string, "UMLS_CUI:C0026265"^^xsd:string, "UMLS_CUI:C0155563"^^xsd:string, "UMLS_CUI:C0264765"^^xsd:string ; oboInOwl:hasExactSynonym "Mitral RH valve dis."@en, "Rheumatic disease of mitral valve"@en, "Rheumatic mitral insufficiency"@en, "Rheumatic mitral valve changes"@en, "Rheumatic mitral valve regurgitation"@en, "chronic rheumatic mitral valve"@en, "disease of mitral valve"@en, "rheumatic disease of mitral valve"@en, "rheumatic mitral valve incompetence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:61"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitral valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002135 ] ) ] . obo:DOID_6101 obo:IAO_0000115 "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40205"^^xsd:string, "UMLS_CUI:C1516424"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6101"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "signet ring cell variant cervical mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3701 . obo:DOID_6102 obo:IAO_0000115 "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27341"^^xsd:string, "UMLS_CUI:C1333996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6102"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "herpetic gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2327 . obo:DOID_6103 oboInOwl:hasDbXref "NCI:C5297"^^xsd:string, "UMLS_CUI:C1336738"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Thoracic Spinal canal and Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6103"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thoracic spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_6104 oboInOwl:hasExactSynonym "Teratocarcinoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and teratoma of the mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_6105 oboInOwl:hasExactSynonym "malignant mediastinal teratoma"@en, "malignant teratoma of mediastinum (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinum malignant teratoma"^^xsd:string ; owl:deprecated true . obo:DOID_6107 oboInOwl:hasExactSynonym "mixed Non-Seminomatous germ cell tumor of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinal mixed non-seminomatous germ cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6108 oboInOwl:hasExactSynonym "mesenchymal hamartoma of Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesenchymal hamartoma of the liver"^^xsd:string ; owl:deprecated true . obo:DOID_6109 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_611 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:611"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukocyte-adhesion deficiency syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6110 oboInOwl:hasDbXref "NCI:C5293"^^xsd:string, "UMLS_CUI:C1334298"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Jugular Foramen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "jugular foramen meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005456 ] ) ] . obo:DOID_6111 oboInOwl:hasExactSynonym "tumor of Jugular Foramen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete jugular foramen neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_6112 oboInOwl:hasDbXref "NCI:C4807"^^xsd:string, "SNOMEDCT_US_2021_03_01:189164002"^^xsd:string, "UMLS_CUI:C0542564"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral meningioma"@en, "meningioma of Cerebrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060106, obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] ) ] . obo:DOID_6113 oboInOwl:hasDbXref "NCI:C5269"^^xsd:string, "UMLS_CUI:C1334236"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6113"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracerebral cystic meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6112 . obo:DOID_6114 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4959"^^xsd:string, "UMLS_CUI:C0751303"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral Hemispheric Convexity meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6114"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral convexity meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6112 . obo:DOID_6115 oboInOwl:hasDbXref "NCI:C5302"^^xsd:string, "UMLS_CUI:C1334380"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Lateral Ventricle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6115"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lateral ventricle meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3541, obo:DOID_3772, obo:DOID_6112 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002285 ] ) ] . obo:DOID_6118 oboInOwl:hasDbXref "NCI:C6187"^^xsd:string, "UMLS_CUI:C1335751"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the kidney Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_6119, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_6119 oboInOwl:hasDbXref "NCI:C4528"^^xsd:string, "UMLS_CUI:C1514844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal pelvis urothelial papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_5975 . obo:DOID_612 obo:IAO_0000115 "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.9"^^xsd:string, "ICD9CM:279.3"^^xsd:string, "KEGG:05340"^^xsd:string, "MESH:D007153"^^xsd:string, "NCI:C39725"^^xsd:string, "OMIM:242850"^^xsd:string, "OMIM:PS300755"^^xsd:string, "SNOMEDCT_US_2021_03_01:191005003"^^xsd:string, "UMLS_CUI:C0021051"^^xsd:string ; oboInOwl:hasExactSynonym "hypoimmunity"@en, "immune deficiency disorder"@en, "immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:612"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary immunodeficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010978 ] ) ] . obo:DOID_6122 obo:IAO_0000115 "An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6122"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related anal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6126 obo:IAO_0000115 "An anal canal cancer that derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563020"^^xsd:string, "NCI:C7489"^^xsd:string, "OMIM:105580"^^xsd:string, "SNOMEDCT_US_2021_03_01:285310000"^^xsd:string, "UMLS_CUI:C0563211"^^xsd:string ; oboInOwl:hasExactSynonym "anal canal and Perianal gland carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6126"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "anal canal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050688, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000159 ] . obo:DOID_6128 obo:IAO_0000115 "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6514"^^xsd:string, "MESH:D018302"^^xsd:string, "NCI:C4318"^^xsd:string, "SNOMEDCT_US_2021_03_01:26138003"^^xsd:string, "UMLS_CUI:C0334576"^^xsd:string ; oboInOwl:hasExactSynonym "Astrocytosis cerebri"@en, "Gliomatosis cerebri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gliomatosis cerebri"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_613 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:613"^^xsd:string ; a owl:Class ; rdfs:label "obsolete T lymphocyte deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_6132 obo:IAO_0000115 "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13503"^^xsd:string, "DOID:13504"^^xsd:string, "DOID:13707"^^xsd:string, "DOID:13728"^^xsd:string, "DOID:13729"^^xsd:string, "DOID:5049"^^xsd:string, "DOID:6130"^^xsd:string, "DOID:6131"^^xsd:string, "DOID:9982"^^xsd:string, "DOID:9983"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J20"^^xsd:string, "ICD10CM:J40"^^xsd:string, "ICD10CM:J42"^^xsd:string, "ICD9CM:466.0"^^xsd:string, "ICD9CM:490"^^xsd:string, "ICD9CM:491"^^xsd:string, "MESH:D001991"^^xsd:string, "MESH:D029481"^^xsd:string, "NCI:C26722"^^xsd:string, "NCI:C26932"^^xsd:string, "NCI:C2911"^^xsd:string, "SNOMEDCT_US_2021_03_01:155512004"^^xsd:string, "SNOMEDCT_US_2021_03_01:155566007"^^xsd:string, "SNOMEDCT_US_2021_03_01:32398004"^^xsd:string, "UMLS_CUI:C0006277"^^xsd:string, "UMLS_CUI:C0008677"^^xsd:string, "UMLS_CUI:C0149514"^^xsd:string ; oboInOwl:hasExactSynonym "CI - Chest infection"@en, "Chest infection"@en, "acute Bronchitis"@en, "chest cold"@en, "chronic bronchitis"@en, "recurrent wheezy bronchitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acute bronchitis and bronchiolitis"@en ; oboInOwl:id "DOID:6132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_6139 obo:IAO_0000115 "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40174"^^xsd:string, "UMLS_CUI:C1519851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus epithelioid leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5289 . obo:DOID_614 obo:IAO_0000115 "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D72.810"^^xsd:string, "ICD9CM:288.51"^^xsd:string, "MESH:D008231"^^xsd:string, "SNOMEDCT_US_2021_03_01:48813009"^^xsd:string, "UMLS_CUI:C0024312"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:614"^^xsd:string ; a owl:Class ; rdfs:label "lymphopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_615 . obo:DOID_6148 obo:IAO_0000115 "An in situ carcinoma that is located_in the nasal cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D02.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:92663007"^^xsd:string, "UMLS_CUI:C0347095"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of nasal cavities"@en, "carcinoma in situ of nasal cavity"@en, "stage 0 carcinoma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6148"^^xsd:string ; a owl:Class ; rdfs:label "nasal cavity carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_2163, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_615 obo:IAO_0000115 "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D72.819"^^xsd:string, "ICD9CM:288.50"^^xsd:string, "MESH:D007970"^^xsd:string, "SNOMEDCT_US_2021_03_01:142917003"^^xsd:string, "UMLS_CUI:C0023530"^^xsd:string ; oboInOwl:hasExactSynonym "Leucopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:615"^^xsd:string ; a owl:Class ; rdfs:label "leukopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_9500 ; skos:exactMatch "MESH:D007970"^^xsd:string . obo:DOID_616 obo:IAO_0000115 "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:616"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Deltaretrovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_6160 obo:IAO_0000115 "A choriocarcinoma of the testis that is present during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6544"^^xsd:string, "UMLS_CUI:C1333006"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric testicular Choriocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6160"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood choriocarcinoma of the testis"^^xsd:string ; rdfs:subClassOf obo:DOID_5551, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6161 oboInOwl:hasDbXref "NCI:C6542"^^xsd:string, "UMLS_CUI:C1333009"^^xsd:string ; oboInOwl:hasExactSynonym "childhood testicular mixed germ cell tumour"@en, "paediatric testicular mixed germ cell tumour"@en, "pediatric testicular mixed germ cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6161"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood testicular mixed germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4743, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6162 obo:IAO_0000115 "An embryonal testis carcinoma that occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6545"^^xsd:string, "UMLS_CUI:C1333007"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric testicular Embryonal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "childhood embryonal carcinoma of the testis"@en ; oboInOwl:id "DOID:6162"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood embryonal testis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5680, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6163 oboInOwl:hasDbXref "NCI:C9222"^^xsd:string, "SNOMEDCT_US_2021_03_01:715561008"^^xsd:string, "UMLS_CUI:C0879257"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary Papillary renal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6163"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial renal papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4455, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] . obo:DOID_6166 oboInOwl:hasDbXref "NCI:C39900"^^xsd:string, "UMLS_CUI:C1514522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostatic urethra urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6167 . obo:DOID_6167 oboInOwl:hasDbXref "NCI:C39870"^^xsd:string, "UMLS_CUI:C1514523"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6167"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostatic urethral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_736 . obo:DOID_617 obo:IAO_0000115 "A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses."^^xsd:string ; oboInOwl:hasExactSynonym "Retroviridae disease"@en, "disease due to Retroviridae (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:617"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Retroviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_6170 obo:IAO_0000115 "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string ; oboInOwl:hasDbXref "GARD:7296"^^xsd:string, "NCI:C9192"^^xsd:string, "SNOMEDCT_US_2021_03_01:702368000"^^xsd:string, "UMLS_CUI:C0392998"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian MMMT"@en, "ovarian malignant mesodermal (mullerian) mixed tumor"@en, "ovarian malignant mixed Mullerian tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6170"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2151 . obo:DOID_6171 obo:IAO_0000115 "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma."^^xsd:string ; oboInOwl:hasDbXref "GARD:12335"^^xsd:string, "NCI:C42700"^^xsd:string, "SNOMEDCT_US_2021_03_01:702369008"^^xsd:string, "UMLS_CUI:C0280630"^^xsd:string ; oboInOwl:hasExactSynonym "mixed mullerian sarcoma of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6171"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine carcinosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4114 . obo:DOID_6174 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6174"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sporadic conventional renal cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6175 oboInOwl:hasDbXref "NCI:C6643"^^xsd:string, "UMLS_CUI:C1334679"^^xsd:string ; oboInOwl:hasExactSynonym "Schwannoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_956 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] ) ] . obo:DOID_6178 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6178"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic ovarian small cell carcinoma with hypercalcemia"^^xsd:string ; owl:deprecated true . obo:DOID_6179 obo:IAO_0000115 "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10411"^^xsd:string, "NCI:C27390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6179"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_6180 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "CMV Gastritis"@en, "CMV-Related Gastritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6180"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_6184 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6184"^^xsd:string ; a owl:Class ; rdfs:label "obsolete squamous cell carcinoma of unknown primary"^^xsd:string ; owl:deprecated true . obo:DOID_619 oboInOwl:hasExactSynonym "Duncan's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:619"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_6190 obo:IAO_0000115 "A sarcoma of the rectum that results_in lesions that are located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5550"^^xsd:string, "UMLS_CUI:C1335681"^^xsd:string ; oboInOwl:hasExactSynonym "Kaposi's sarcoma of rectum"@en, "rectum Kaposi sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum Kaposi's sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1995 . obo:DOID_6192 oboInOwl:hasDbXref "NCI:C6497"^^xsd:string, "UMLS_CUI:C1334180"^^xsd:string ; oboInOwl:hasExactSynonym "Xanthosarcoma"@en, "inflammatory MFH"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant inflammatory fibrous histiocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1907 . obo:DOID_6193 obo:IAO_0000115 "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:10181"^^xsd:string, "ICDO:8804/3"^^xsd:string, "MESH:D012509"^^xsd:string, "NCI:C3714"^^xsd:string, "SNOMEDCT_US_2021_03_01:782827000"^^xsd:string, "UMLS_CUI:C0205944"^^xsd:string ; oboInOwl:hasExactSynonym "epithelioid cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_201, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_6195 obo:IAO_0000115 "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10"^^xsd:string, "ICD9CM:372.30"^^xsd:string, "MESH:D003231"^^xsd:string, "NCI:C34504"^^xsd:string, "SNOMEDCT_US_2021_03_01:193857008"^^xsd:string, "UMLS_CUI:C0009763"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Madras eye"@en ; oboInOwl:id "DOID:6195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_6196 obo:IAO_0000115 "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10148"^^xsd:string, "DOID:11891"^^xsd:string, "DOID:13318"^^xsd:string, "DOID:13519"^^xsd:string, "DOID:13782"^^xsd:string, "DOID:13783"^^xsd:string, "DOID:13784"^^xsd:string, "DOID:13785"^^xsd:string, "DOID:6194"^^xsd:string, "DOID:9760"^^xsd:string ; oboInOwl:hasDbXref "GARD:5693"^^xsd:string, "ICD10CM:M02.10"^^xsd:string, "ICD10CM:M02.3"^^xsd:string, "ICD9CM:099.3"^^xsd:string, "ICD9CM:711.30"^^xsd:string, "MESH:D016918"^^xsd:string, "NCI:C34975"^^xsd:string, "SNOMEDCT_US_2021_03_01:266212009"^^xsd:string, "SNOMEDCT_US_2021_03_01:56528004"^^xsd:string, "UMLS_CUI:C0035012"^^xsd:string, "UMLS_CUI:C0152085"^^xsd:string ; oboInOwl:hasExactSynonym "Fiessinger Leroy Reiter syndrome"@en, "Post-bacterial arthropathy"@en, "Reactive arthritis"@en, "Reiter disease"@en, "Reiter's disease"@en, "postdysenteric arthropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6196"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reactive arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000982 ] . obo:DOID_6197 oboInOwl:hasDbXref "NCI:C9425"^^xsd:string, "UMLS_CUI:C1333158"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6197"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional malignant hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264 . obo:DOID_6198 oboInOwl:hasDbXref "NCI:C6093"^^xsd:string, "SNOMEDCT_US_2021_03_01:420835009"^^xsd:string, "UMLS_CUI:C1333159"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal intraepithelial neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_10124, obo:DOID_5465 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060071 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_6199 oboInOwl:hasAlternativeId "DOID:12757"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.1"^^xsd:string, "ICD9CM:190.4"^^xsd:string, "NCI:C3565"^^xsd:string, "NCI:C4361"^^xsd:string, "SNOMEDCT_US_2021_03_01:126997008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93766000"^^xsd:string, "UMLS_CUI:C0153629"^^xsd:string, "UMLS_CUI:C0339304"^^xsd:string ; oboInOwl:hasExactSynonym "Corneal tumor"@en, "malignant Corneal tumor"@en, "malignant neoplasm of cornea"@en, "malignant tumor of cornea"@en, "neoplasm of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6199"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cornea cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10124, obo:DOID_2174 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_62 oboInOwl:hasAlternativeId "DOID:56"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:424.1"^^xsd:string, "MESH:D000082862"^^xsd:string, "NCI:C78650"^^xsd:string, "SNOMEDCT_US_2021_03_01:8722008"^^xsd:string, "UMLS_CUI:C1260873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:62"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating out dated UMLS CUI."^^xsd:string ; rdfs:label "aortic valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079, obo:DOID_520, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000947 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002137 ] ) ] . obo:DOID_620 oboInOwl:hasDbXref "MESH:D001796"^^xsd:string, "UMLS_CUI:C0005830"^^xsd:string ; oboInOwl:hasExactSynonym "blood protein disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:620"^^xsd:string ; a owl:Class ; rdfs:label "blood protein disease"^^xsd:string ; rdfs:subClassOf obo:DOID_74 . obo:DOID_6200 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6200"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant pericardial mesothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_6201 oboInOwl:hasAlternativeId "DOID:5883"^^xsd:string, "DOID:7433"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C45.2"^^xsd:string, "NCI:C7631"^^xsd:string, "NCI:C7632"^^xsd:string, "NCI:C8703"^^xsd:string, "SNOMEDCT_US_2021_03_01:187885008"^^xsd:string, "UMLS_CUI:C0346110"^^xsd:string, "UMLS_CUI:C0854883"^^xsd:string, "UMLS_CUI:C1335381"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Pericardial Mesothelioma"@en, "malignant mesothelioma of pericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardial mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_116 . obo:DOID_6202 oboInOwl:hasExactSynonym "relapsed malignant Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6202"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mesothelioma malignant recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_6203 oboInOwl:hasDbXref "NCI:C6846"^^xsd:string, "SNOMEDCT_US_2021_03_01:722214003"^^xsd:string, "UMLS_CUI:C1336751"^^xsd:string ; oboInOwl:hasExactSynonym "PLAT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid hyalinizing trabecular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6204 . obo:DOID_6204 oboInOwl:hasDbXref "MESH:D000236"^^xsd:string, "SNOMEDCT_US_2021_03_01:55021007"^^xsd:string, "UMLS_CUI:C0205647"^^xsd:string ; oboInOwl:hasExactSynonym "Follicular adenoma"@en, "Follicular adenoma of the Thyroid gland"@en, "Thyroid follicular adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6204"^^xsd:string ; a owl:Class ; rdfs:label "follicular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2891 . obo:DOID_6208 oboInOwl:hasDbXref "NCI:C6615"^^xsd:string, "UMLS_CUI:C1334675"^^xsd:string ; oboInOwl:hasExactSynonym "Osteosarcoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, obo:DOID_4050, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ] . obo:DOID_6209 obo:IAO_0000115 "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6608"^^xsd:string, "UMLS_CUI:C1334598"^^xsd:string ; oboInOwl:hasExactSynonym "malignant hemangiopericytoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant mediastinum hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264 . obo:DOID_621 obo:IAO_0000115 "A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells."^^xsd:string ; oboInOwl:hasExactSynonym "SAIDS"@en, "simian lymphoproliferative syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:621"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simian acquired immunodeficiency syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6210 oboInOwl:hasDbXref "NCI:C39849"^^xsd:string, "UMLS_CUI:C1511187"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder diffuse clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5306 . obo:DOID_6211 obo:IAO_0000115 "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4508"^^xsd:string, "SNOMEDCT_US_2021_03_01:254855000"^^xsd:string, "UMLS_CUI:C0346166"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian mixed epithelial tumor"@en, "Ovarian mixed epithelial tumour"@en, "mixed epithelial tumour of ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed epithelial tumor of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_6212 obo:IAO_0000115 "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4116"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40051"^^xsd:string, "NCI:C6257"^^xsd:string, "UMLS_CUI:C1335159"^^xsd:string, "UMLS_CUI:C1518231"^^xsd:string ; oboInOwl:hasExactSynonym "endometrioid neoplasm of Ovary"@en, "malignant ovarian endometrioid tumor"@en, "ovarian endometrioid neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6212"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrial cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2152, obo:DOID_3001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3001 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_6213 oboInOwl:hasExactSynonym "Ovarian serous tumor (morphologic abnormality)"@en, "Ovarian serous tumour"@en, "serous tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6213"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian serous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6214 obo:IAO_0000115 "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8430"^^xsd:string, "SNOMEDCT_US_2021_03_01:189683008"^^xsd:string, "UMLS_CUI:C0476121"^^xsd:string ; oboInOwl:hasExactSynonym "Ovarian papillary tumor"@en, "Ovarian papillary tumour"@en, "Papillary tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6214"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian papillary neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2152 . obo:DOID_6217 obo:IAO_0000115 "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4946"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4127"^^xsd:string, "NCI:C9159"^^xsd:string, "SNOMEDCT_US_2021_03_01:24505004"^^xsd:string, "UMLS_CUI:C0279635"^^xsd:string, "UMLS_CUI:C0334280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6217"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric diffuse adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3717 . obo:DOID_622 obo:IAO_0000115 "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound."^^xsd:string ; oboInOwl:hasExactSynonym "Lentivirus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:622"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lentivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_6225 oboInOwl:hasDbXref "NCI:C7035"^^xsd:string, "OMIM:175500"^^xsd:string, "UMLS_CUI:C1333764"^^xsd:string ; oboInOwl:hasExactSynonym "gastric Cronkhite Canada polyposis"@en, "polyposis, skin pigmentation, alopecia, and fingernail changes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6225"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cronkhite-Canada syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_6227 oboInOwl:hasAlternativeId "DOID:6226"^^xsd:string, "DOID:9366"^^xsd:string, "DOID:9871"^^xsd:string, "DOID:9872"^^xsd:string, "DOID:9873"^^xsd:string, "DOID:9874"^^xsd:string, "DOID:9875"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:718.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:268062001"^^xsd:string, "UMLS_CUI:C0158073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6227"^^xsd:string ; a owl:Class ; rdfs:label "articular cartilage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1222 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010996 ] ) ] . obo:DOID_6228 oboInOwl:hasDbXref "NCI:C7695"^^xsd:string, "SNOMEDCT_US_2021_03_01:15674004"^^xsd:string, "UMLS_CUI:C1368918"^^xsd:string ; oboInOwl:hasExactSynonym "primary serous papillary carcinoma of peritoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6228"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peritoneal serous papillary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4901 . obo:DOID_6229 obo:IAO_0000115 "A mature teratoma of the ovary that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6548"^^xsd:string, "UMLS_CUI:C1332991"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Mature teratoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6229"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood mature teratoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_6231, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6230 obo:IAO_0000115 "An ovarian germ cell teratoma that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6554"^^xsd:string, "UMLS_CUI:C1332992"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric teratoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6230"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood teratoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_5567, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6231 obo:IAO_0000115 "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8112"^^xsd:string, "UMLS_CUI:C1334637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6231"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mature teratoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_6232, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_6232 obo:IAO_0000115 "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39992"^^xsd:string, "UMLS_CUI:C1518691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6232"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian biphasic or triphasic teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5567 . obo:DOID_6239 oboInOwl:hasAlternativeId "DOID:6238"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27884"^^xsd:string, "NCI:C39831"^^xsd:string, "SNOMEDCT_US_2021_03_01:128625004"^^xsd:string, "UMLS_CUI:C1266010"^^xsd:string, "UMLS_CUI:C1518358"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary urothelial neoplasm of low malignant potential"@en, "bladder PUNLMP"@en, "bladder papillary neoplasm of low malignant potential"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "non-invasive bladder papillary urothelial neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5432 . obo:DOID_624 oboInOwl:hasDbXref "ICD10CM:D80.7"^^xsd:string, "NCI:C27071"^^xsd:string, "SNOMEDCT_US_2021_03_01:88714009"^^xsd:string, "UMLS_CUI:C0272238"^^xsd:string ; oboInOwl:hasExactSynonym "Transient Hypogammaglobulinemia of Infancy"@en, "Transient hypogammaglobulinemia of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:624"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient hypogammaglobulinemia of infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_625 . obo:DOID_6240 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitional cell intraepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_6244 oboInOwl:hasDbXref "NCI:C8960"^^xsd:string, "UMLS_CUI:C0879606"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6244"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial renal oncocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6245 . obo:DOID_6245 oboInOwl:hasDbXref "GARD:8477"^^xsd:string, "MESH:C537750"^^xsd:string, "NCI:C4526"^^xsd:string, "OMIM:553000"^^xsd:string, "SNOMEDCT_US_2021_03_01:254922006"^^xsd:string, "UMLS_CUI:C0346255"^^xsd:string ; oboInOwl:hasExactSynonym "Oncocytoma of kidney"@en, "renal epithelial Oncocytic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6245"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "renal oncocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116 . obo:DOID_6246 oboInOwl:hasExactSynonym "Oncocytic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6246"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "obsolete oncocytic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_6249 oboInOwl:hasDbXref "NCI:C6812"^^xsd:string, "UMLS_CUI:C1334680"^^xsd:string ; oboInOwl:hasExactSynonym "Seminoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6249"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2994, obo:DOID_5559, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000019 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] . obo:DOID_625 oboInOwl:hasDbXref "NCI:C27319"^^xsd:string, "UMLS_CUI:C0859960"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:625"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient hypogammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2583 . obo:DOID_6250 obo:IAO_0000115 "An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects."^^xsd:string ; oboInOwl:hasExactSynonym "EBV Related carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6250"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Epstein-Barr virus related carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6255 oboInOwl:hasDbXref "MESH:D049912"^^xsd:string, "NCI:C7461"^^xsd:string, "SNOMEDCT_US_2021_03_01:254957009"^^xsd:string, "UMLS_CUI:C0346302"^^xsd:string ; oboInOwl:hasExactSynonym "Growth Hormone Producing adenoma of the Pituitary"@en, "Somatotroph adenoma"@en, "growth hormone secreting adenoma of pituitary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6255"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "growth hormone secreting pituitary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5395 . obo:DOID_6256 oboInOwl:hasDbXref "NCI:C5963"^^xsd:string, "UMLS_CUI:C1334587"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Somatotropinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6256"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant growth hormone secreting neoplasm of pituitary"^^xsd:string ; rdfs:subClassOf obo:DOID_5716 . obo:DOID_6257 oboInOwl:hasDbXref "NCI:C3687"^^xsd:string, "UMLS_CUI:C1518879"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenoma of the kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6257"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromophil adenoma of the kidney"^^xsd:string ; rdfs:subClassOf obo:DOID_2697 . obo:DOID_6258 oboInOwl:hasDbXref "NCI:C39809"^^xsd:string, "UMLS_CUI:C1519706"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "type 1 papillary adenoma of the kidney"^^xsd:string ; rdfs:subClassOf obo:DOID_6257 . obo:DOID_6259 oboInOwl:hasDbXref "NCI:C39810"^^xsd:string, "UMLS_CUI:C1519710"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "type 2 papillary adenoma of the kidney"^^xsd:string ; rdfs:subClassOf obo:DOID_6257 . obo:DOID_626 obo:IAO_0000115 "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "MESH:D000081208"^^xsd:string, "NCI:C4691"^^xsd:string, "SNOMEDCT_US_2021_03_01:191014008"^^xsd:string, "UMLS_CUI:C0272242"^^xsd:string ; oboInOwl:hasExactSynonym "Complement deficiency"@en, "Complement deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:626"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "complement deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0005339 ] . obo:DOID_6262 obo:IAO_0000115 "A dendritic cell sarcoma cancer that effects the follicular dendritic cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C96.4"^^xsd:string, "MESH:D054740"^^xsd:string, "NCI:C9281"^^xsd:string, "SNOMEDCT_US_2021_03_01:128816008"^^xsd:string, "UMLS_CUI:C1260325"^^xsd:string ; oboInOwl:hasExactSynonym "Follicular Dendritic cell sarcoma"@en, "Follicular dendritic cell tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "follicular dendritic cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7849, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000442 ] . obo:DOID_6263 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli."^^xsd:string ; oboInOwl:hasDbXref "MESH:D058922"^^xsd:string, "NCI:C4001"^^xsd:string, "SNOMEDCT_US_2021_03_01:254840009"^^xsd:string, "UMLS_CUI:C0278601"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory carcinoma of breast"@en, "Mastitis carcinomatosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6263"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "inflammatory breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_6268 oboInOwl:hasExactSynonym "relapsed extraskeletal chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent extraskeletal chondrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_627 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems."^^xsd:string ; oboInOwl:hasDbXref "GARD:7628"^^xsd:string, "MESH:D016511"^^xsd:string, "NCI:C3472"^^xsd:string, "SNOMEDCT_US_2021_03_01:190994004"^^xsd:string, "UMLS_CUI:C0085110"^^xsd:string ; oboInOwl:hasExactSynonym "SCID"@en, "combined T and B cell inborn immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:627"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "severe combined immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_6270 oboInOwl:hasDbXref "NCI:C6794"^^xsd:string, "UMLS_CUI:C1333763"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of Cardia of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6270"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric cardia carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10548, obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001162 ] . obo:DOID_6271 oboInOwl:hasDbXref "NCI:C5247"^^xsd:string, "UMLS_CUI:C1333762"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of Cardia of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of gastric cardia"@en ; oboInOwl:id "DOID:6271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric cardia adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10548, obo:DOID_3717, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001162 ] . obo:DOID_6273 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6273"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to pituitary gland"^^xsd:string ; owl:deprecated true . obo:DOID_6274 oboInOwl:hasDbXref "NCI:C5965"^^xsd:string, "UMLS_CUI:C1334627"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Thyrotropinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6274"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant thyroid stimulating hormone producing neoplasm of pituitary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_5716 . obo:DOID_6275 oboInOwl:hasDbXref "NCI:C8011"^^xsd:string, "SNOMEDCT_US_2021_03_01:254959007"^^xsd:string, "UMLS_CUI:C0346303"^^xsd:string ; oboInOwl:hasExactSynonym "TSH Secreting adenoma of the Pituitary"@en, "TSH Secreting tumor of Pituitary"@en, "TSH Secreting tumour of Pituitary"@en, "TSH producing pituitary tumour"@en, "Thyrotroph adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "TSH producing pituitary tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5395 . obo:DOID_6276 oboInOwl:hasDbXref "NCI:C5964"^^xsd:string, "UMLS_CUI:C1334556"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Corticotropinoma of the Pituitary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6276"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ACTH producing neoplasm of pituitary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_5716 . obo:DOID_6277 oboInOwl:hasExactSynonym "Pituitary Corticotropin Secreting tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6277"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ACTH-producing pituitary tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6278 obo:IAO_0000115 "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40034"^^xsd:string ; oboInOwl:hasExactSynonym "ovarian mucinous adenocarcinofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous malignant adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_6067 . obo:DOID_628 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81"^^xsd:string, "ICD9CM:279.2"^^xsd:string, "NCI:C27871"^^xsd:string, "OMIM:312863"^^xsd:string, "ORDO:101972"^^xsd:string, "SNOMEDCT_US_2021_03_01:191003005"^^xsd:string, "UMLS_CUI:C0494261"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Combined Immunodeficiency"@en, "combined immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:628"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "combined T cell and B cell immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_6284 obo:IAO_0000115 "A heart lipoma that is located_in the epicardium and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6742"^^xsd:string, "UMLS_CUI:C1333411"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of Epicardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6284"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epicardium lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6285, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002348 ] . obo:DOID_6285 oboInOwl:hasDbXref "NCI:C6741"^^xsd:string, "UMLS_CUI:C1332849"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6285"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060091, obo:DOID_114, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_6286 oboInOwl:hasDbXref "NCI:C6286"^^xsd:string, "UMLS_CUI:C0278594"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric astrocytoma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6286"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood cerebellar astrocytic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4848, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6287 oboInOwl:hasExactSynonym "relapsed pediatric astrocytoma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric cerebellar astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_6288 oboInOwl:hasExactSynonym "relapsed tumor of pediatric brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6288"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood brain tumor"^^xsd:string ; owl:deprecated true . obo:DOID_629 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:629"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital disorder of natural immunity"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_6291 oboInOwl:hasDbXref "NCI:C6220"^^xsd:string, "UMLS_CUI:C1332907"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Cerebral Hemisphere"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6291"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral hemisphere lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6293, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001869 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_6292 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6292"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intracranial lipoma"^^xsd:string ; owl:deprecated true . obo:DOID_6293 obo:IAO_0000115 "A central nervous system benign neoplasm that derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5451"^^xsd:string, "UMLS_CUI:C1332885"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_6294 oboInOwl:hasDbXref "NCI:C5438"^^xsd:string, "UMLS_CUI:C1333160"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Corpus Callosum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6294"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corpus callosum lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6291, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002336 ] . obo:DOID_6296 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing."^^xsd:string ; oboInOwl:hasExactSynonym "herpes simplex esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus esophagitis"^^xsd:string ; owl:deprecated true . obo:DOID_6297 oboInOwl:hasDbXref "NCI:C27108"^^xsd:string, "SNOMEDCT_US_2021_03_01:235603003"^^xsd:string, "UMLS_CUI:C0341110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11963, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_630 obo:IAO_0000115 "A disease that has_material_basis_in genetic variations in the human genome."^^xsd:string ; oboInOwl:hasDbXref "MESH:D030342"^^xsd:string, "NCI:C3101"^^xsd:string, "SNOMEDCT_US_2021_03_01:32895009"^^xsd:string, "UMLS_CUI:C0019247"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:630"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "genetic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ) ] . obo:DOID_6301 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basal cell carcinoma of the prostate"@en ; oboInOwl:id "DOID:6301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete prostate basal cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6307 oboInOwl:hasDbXref "NCI:C27804"^^xsd:string, "UMLS_CUI:C1333375"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ectopic thymus"^^xsd:string ; rdfs:subClassOf obo:DOID_533 . obo:DOID_6308 oboInOwl:hasExactSynonym "metastatic Urothelial carcinoma of the renal Pelvis and Ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6308"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic transitional cell cancer of the renal pelvis and ureter"^^xsd:string ; owl:deprecated true . obo:DOID_631 oboInOwl:hasDbXref "ICD10CM:M79.7"^^xsd:string, "MESH:D005356"^^xsd:string, "NCI:C87497"^^xsd:string, "SNOMEDCT_US_2021_03_01:1304004"^^xsd:string, "UMLS_CUI:C0016053"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:631"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibromyalgia"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_6312 obo:IAO_0000115 "A chordoma of skull base that is located in the clivus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5412"^^xsd:string, "SNOMEDCT_US_2021_03_01:446939001"^^xsd:string, "UMLS_CUI:C1333071"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoma of Clivus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clivus chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4151 . obo:DOID_6313 obo:IAO_0000115 "A chondroid chordoma and chordoma of the clivus that is located_in the clivus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5426"^^xsd:string, "UMLS_CUI:C1333072"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroid Chordoma of the Clivus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clivus chondroid chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6312 . obo:DOID_6314 obo:IAO_0000115 "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39996"^^xsd:string, "UMLS_CUI:C1518715"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6314"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian fetiform teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6231 . obo:DOID_6315 obo:IAO_0000115 "A mature teratoma of the ovary that is predominantly solid with interspersed cysts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7285"^^xsd:string, "UMLS_CUI:C1335181"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian solid teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6231 . obo:DOID_6316 obo:IAO_0000115 "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7719"^^xsd:string, "UMLS_CUI:C0238016"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland adenocarcinoma"@en, "adenocarcinoma of the Bartholin's gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of bartholin's gland"@en ; oboInOwl:id "DOID:6316"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_3999, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_6322 obo:IAO_0000115 "An adamantinoma of long bone that is located_in the tibia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8461"^^xsd:string, "SNOMEDCT_US_2021_03_01:210233007"^^xsd:string, "UMLS_CUI:C1273017"^^xsd:string ; oboInOwl:hasExactSynonym "Tibial adamantinoma"@en, "Tibial adamantinoma morphology"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tibial adamantinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2775 . obo:DOID_6327 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6327"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6328 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6328"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6329 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6329"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary tumor"^^xsd:string ; owl:deprecated true . obo:DOID_633 obo:IAO_0000115 "A myopathy characterized by muscle inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M60"^^xsd:string, "MESH:D009220"^^xsd:string, "NCI:C27578"^^xsd:string, "OMIM:160750"^^xsd:string, "SNOMEDCT_US_2021_03_01:26889001"^^xsd:string, "UMLS_CUI:C0027121"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory disorder of muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myositis"^^xsd:string ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_6331 obo:IAO_0000115 "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8111"^^xsd:string, "SNOMEDCT_US_2021_03_01:254871000"^^xsd:string, "UMLS_CUI:C0346182"^^xsd:string ; oboInOwl:hasExactSynonym "Immature teratoma of ovary"@en, "malignant teratoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "immature teratoma of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_2155, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_6332 oboInOwl:hasDbXref "NCI:C7946"^^xsd:string, "UMLS_CUI:C0279547"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6332"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult malignant hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6333 oboInOwl:hasDbXref "NCI:C9183"^^xsd:string, "UMLS_CUI:C1334558"^^xsd:string ; oboInOwl:hasExactSynonym "adult malignant intracranial hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6333"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult intracranial malignant hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6334 oboInOwl:hasDbXref "NCI:C7538"^^xsd:string, "UMLS_CUI:C1332308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6334"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anterior optic tract meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3419 . obo:DOID_6335 oboInOwl:hasDbXref "MESH:C000608854"^^xsd:string, "NCI:C5304"^^xsd:string, "UMLS_CUI:C1332551"^^xsd:string ; oboInOwl:hasExactSynonym "Bilateral meningioma of the optic nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bilateral meningioma of optic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_3419, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ] ) ] . obo:DOID_6337 oboInOwl:hasDbXref "NCI:C5300"^^xsd:string, "SNOMEDCT_US_2021_03_01:126948004"^^xsd:string, "UMLS_CUI:C1263882"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellopontine angle meningioma"@en, "meningioma of the Cerebellar Pontine Angle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6337"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellopontine angle meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060106, obo:DOID_3200 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0014908 ] ) ] . obo:DOID_6338 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular tumor of the thecoma fibroma group"^^xsd:string ; owl:deprecated true . obo:DOID_6339 obo:IAO_0000115 "A vulva adenocarcinoma that has_material_basis in eccrine glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar eccrine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2098 . obo:DOID_6344 oboInOwl:hasDbXref "NCI:C6910"^^xsd:string, "SNOMEDCT_US_2021_03_01:19897006"^^xsd:string, "UMLS_CUI:C1321709"^^xsd:string ; oboInOwl:hasExactSynonym "melanocytic psammomatous MPNST"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6344"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanotic psammomatous malignant peripheral nerve sheath tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_6345 . obo:DOID_6345 oboInOwl:hasDbXref "NCI:C4748"^^xsd:string, "SNOMEDCT_US_2021_03_01:404039004"^^xsd:string, "UMLS_CUI:C0474847"^^xsd:string ; oboInOwl:hasExactSynonym "Melanotic malignant nerve sheath tumor"@en, "Melanotic malignant peripheral nerve sheath tumor"@en, "Melanotic malignant peripheral nerve sheath tumour"@en, "melanocytic MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6345"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant melanocytic neoplasm of the peripheral nerve sheath"^^xsd:string ; rdfs:subClassOf obo:DOID_5940 . obo:DOID_635 obo:IAO_0000115 "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000765"^^xsd:string, "ICD10CM:B20"^^xsd:string, "MESH:D000163"^^xsd:string, "NCI:C2851"^^xsd:string, "SNOMEDCT_US_2021_03_01:62479008"^^xsd:string, "UMLS_CUI:C0001175"^^xsd:string ; oboInOwl:hasExactSynonym "AIDS"@en, "acquired Immune deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acquired immune deficiency syndrome"@en ; oboInOwl:id "DOID:635"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "acquired immunodeficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_526, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000007 obo:TRANS_0000011 obo:TRANS_0000012 ) ] ] ; skos:exactMatch "MESH:D000163"^^xsd:string . obo:DOID_6354 obo:IAO_0000115 "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27911"^^xsd:string, "SNOMEDCT_US_2021_03_01:399607007"^^xsd:string, "UMLS_CUI:C1302547"^^xsd:string ; oboInOwl:hasExactSynonym "chronic lymphocytic leukemia/small lymphocytic lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6354"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "CLL/SLL"^^xsd:string ; rdfs:subClassOf obo:DOID_1040 . obo:DOID_636 obo:IAO_0000115 "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria."^^xsd:string ; oboInOwl:hasDbXref "GARD:8749"^^xsd:string, "ICD10CM:G37.2"^^xsd:string, "MESH:D017590"^^xsd:string, "NCI:C84623"^^xsd:string, "SNOMEDCT_US_2021_03_01:6807001"^^xsd:string, "UMLS_CUI:C0206083"^^xsd:string ; oboInOwl:hasExactSynonym "osmotic demyelination syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central pontine myelinolysis"^^xsd:string ; rdfs:subClassOf obo:DOID_3213 . obo:DOID_6361 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6361"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal cell carcinoma with constitutional chromosome 3 translocations"^^xsd:string ; owl:deprecated true . obo:DOID_6364 obo:IAO_0000115 "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12437"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003821"^^xsd:string, "ICD10CM:G43"^^xsd:string, "ICD9CM:346"^^xsd:string, "MESH:D008881"^^xsd:string, "NCI:C89715"^^xsd:string, "OMIM:157300"^^xsd:string, "SNOMEDCT_US_2021_03_01:155046006"^^xsd:string, "SNOMEDCT_US_2021_03_01:193036004"^^xsd:string, "UMLS_CUI:C0042331"^^xsd:string, "UMLS_CUI:C0149931"^^xsd:string ; oboInOwl:hasExactSynonym "migraine disorder"@en, "migraine variant"@en, "migraine with or without aura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6364"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "migraine"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] . obo:DOID_6367 obo:IAO_0000115 "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9570"^^xsd:string ; oboInOwl:hasExactSynonym "acral lentiginous melanoma, malignant"@en, "malignant acral lentiginous melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6367"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "acral lentiginous melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_637 oboInOwl:hasExactSynonym "Metabolic encephalopathy"@en, "Metabolic encephalopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:637"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metabolic brain disease"^^xsd:string ; owl:deprecated true . obo:DOID_6370 oboInOwl:hasDbXref "NCI:C5833"^^xsd:string, "UMLS_CUI:C1333974"^^xsd:string ; oboInOwl:hasExactSynonym "Osteosarcoma of Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6370"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatic osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, obo:DOID_3571, [ a owl:Class ; owl:unionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000058 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000062 ] ) ] . obo:DOID_6376 oboInOwl:hasDbXref "ICD10CM:D73.1"^^xsd:string, "ICD9CM:289.4"^^xsd:string, "MESH:D006971"^^xsd:string, "NCI:C34714"^^xsd:string, "SNOMEDCT_US_2021_03_01:154839008"^^xsd:string, "UMLS_CUI:C0020532"^^xsd:string ; oboInOwl:hasExactSynonym "hypersplenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypersplenism"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_6379 oboInOwl:hasDbXref "NCI:C6890"^^xsd:string, "SNOMEDCT_US_2021_03_01:128729004"^^xsd:string, "UMLS_CUI:C1266112"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse Melanosis"@en, "Diffuse melanocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diffuse meningeal melanocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4955 . obo:DOID_638 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:638"^^xsd:string ; a owl:Class ; rdfs:label "obsolete demyelinating disease of central nervous system"^^xsd:string ; owl:deprecated true . obo:DOID_6381 oboInOwl:hasDbXref "NCI:C5281"^^xsd:string, "UMLS_CUI:C1332302"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Anterior Foramen Magnum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anterior foramen magnum meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4708 . obo:DOID_6382 oboInOwl:hasExactSynonym "relapsed pediatric glioma of Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6382"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood glioma of brain stem"^^xsd:string ; owl:deprecated true . obo:DOID_6383 oboInOwl:hasDbXref "GARD:9306"^^xsd:string, "NCI:C9042"^^xsd:string, "UMLS_CUI:C0278600"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric glioma of the Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6383"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood brain stem glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4206, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6384 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6384"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood central nervous system tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6385 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6385"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood brainstem astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_6386 oboInOwl:hasDbXref "NCI:C6216"^^xsd:string, "UMLS_CUI:C1332950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6386"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood brainstem astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6383, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_639 obo:IAO_0000115 "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:8639"^^xsd:string, "MESH:D004673"^^xsd:string, "NCI:C34578"^^xsd:string, "SNOMEDCT_US_2021_03_01:83942000"^^xsd:string, "UMLS_CUI:C0014059"^^xsd:string ; oboInOwl:hasExactSynonym "ADEM"@en, "acute Disseminated Encephalomyelitis"@en, "acute disseminated encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute disseminated encephalomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_640, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_64 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:64"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epithelial tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_640 oboInOwl:hasDbXref "MESH:D004679"^^xsd:string, "NCI:C34580"^^xsd:string, "SNOMEDCT_US_2021_03_01:154991009"^^xsd:string, "UMLS_CUI:C0014070"^^xsd:string ; oboInOwl:hasExactSynonym "Encephalitis &/or myelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:640"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "encephalomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331 ; skos:exactMatch "MESH:D004679"^^xsd:string . obo:DOID_6404 oboInOwl:hasDbXref "NCI:C27253"^^xsd:string, "SNOMEDCT_US_2021_03_01:128670007"^^xsd:string, "UMLS_CUI:C1266045"^^xsd:string ; oboInOwl:hasExactSynonym "Metanephric adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6404"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "metanephric adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2697 . obo:DOID_6405 obo:IAO_0000115 "An ovarian cystadenoma that is characterized by the presence of finger-like projections."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7278"^^xsd:string, "UMLS_CUI:C1335175"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6405"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian papillary cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6214 . obo:DOID_6406 oboInOwl:hasDbXref "GARD:1908"^^xsd:string, "ICD10CM:Q20.1"^^xsd:string, "ICD9CM:745.11"^^xsd:string, "MESH:D004310"^^xsd:string, "NCI:C98916"^^xsd:string, "OMIM:217095"^^xsd:string, "ORDO:3426"^^xsd:string, "SNOMEDCT_US_2021_03_01:7484005"^^xsd:string, "UMLS_CUI:C0013069"^^xsd:string ; oboInOwl:hasExactSynonym "Dextrotransposition of aorta"@en, "Double outlet right ventricle"@en, "Double outlet right ventricle with subpulmonary ventricular septal defect"@en, "Taussig-Bing syndrome or defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "double outlet right ventricle"^^xsd:string ; rdfs:subClassOf obo:DOID_1657 . obo:DOID_6407 obo:IAO_0000115 "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7279"^^xsd:string, "UMLS_CUI:C1335183"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6407"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian surface papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_6214 . obo:DOID_6408 obo:IAO_0000115 "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6256"^^xsd:string, "UMLS_CUI:C1335178"^^xsd:string ; oboInOwl:hasExactSynonym "serous Surface Papillary carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6408"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovary papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] . obo:DOID_641 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:641"^^xsd:string ; a owl:Class ; rdfs:label "obsolete CNS demyelinating autoimmune disease"^^xsd:string ; owl:deprecated true . obo:DOID_6419 oboInOwl:hasDbXref "GARD:2245"^^xsd:string, "ICD10CM:Q21.3"^^xsd:string, "ICD9CM:745.2"^^xsd:string, "MESH:D013771"^^xsd:string, "NCI:C84505"^^xsd:string, "OMIM:187500"^^xsd:string, "SNOMEDCT_US_2021_03_01:156913009"^^xsd:string, "UMLS_CUI:C0039685"^^xsd:string ; oboInOwl:hasExactSynonym "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6419"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tetralogy of Fallot"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_642 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:642"^^xsd:string ; a owl:Class ; rdfs:label "obsolete demyelinating encephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_6420 oboInOwl:hasDbXref "GARD:4596"^^xsd:string, "MESH:D011666"^^xsd:string, "OMIM:265500"^^xsd:string, "SNOMEDCT_US_2021_03_01:56786000"^^xsd:string, "UMLS_CUI:C0034089"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6420"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary valve stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5749 . obo:DOID_6423 oboInOwl:hasDbXref "NCI:C27404"^^xsd:string, "UMLS_CUI:C1332955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6423"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood central nervous system mature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6017, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6424 oboInOwl:hasExactSynonym "pediatric teratoma of central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6424"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric CNS teratoma"^^xsd:string ; owl:deprecated true . obo:DOID_6425 oboInOwl:hasDbXref "NCI:C6078"^^xsd:string, "UMLS_CUI:C0920196"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6425"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eyelid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_6428 obo:IAO_0000115 """A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells."""^^xsd:string ; oboInOwl:hasDbXref "NCI:C40213"^^xsd:string, "SNOMEDCT_US_2021_03_01:763063001"^^xsd:string, "UMLS_CUI:C1516403"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenoid basal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893 . obo:DOID_643 obo:IAO_0000115 "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma."^^xsd:string ; oboInOwl:hasDbXref "GARD:7468"^^xsd:string, "ICD10CM:A81.2"^^xsd:string, "ICD9CM:046.3"^^xsd:string, "MESH:D007968"^^xsd:string, "NCI:C26815"^^xsd:string, "SNOMEDCT_US_2021_03_01:22255007"^^xsd:string, "UMLS_CUI:C0023524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "PML"@en ; oboInOwl:id "DOID:643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "progressive multifocal leukoencephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10632 ] . obo:DOID_6432 obo:IAO_0000115 "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I27.20"^^xsd:string, "MESH:D006976"^^xsd:string, "NCI:C3120"^^xsd:string, "SNOMEDCT_US_2021_03_01:155328008"^^xsd:string, "UMLS_CUI:C0020542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_6438 oboInOwl:hasDbXref "NCI:C4561"^^xsd:string, "SNOMEDCT_US_2021_03_01:255021005"^^xsd:string, "UMLS_CUI:C0346388"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of choroid"@en, "melanoma of the Choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant choroid melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_12759 . obo:DOID_644 oboInOwl:hasExactSynonym "Leukoencephalopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:644"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukoencephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_6445 oboInOwl:hasDbXref "NCI:C40060"^^xsd:string, "UMLS_CUI:C1518711"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrioid malignant adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_6170 . obo:DOID_6446 oboInOwl:hasDbXref "NCI:C4176"^^xsd:string, "SNOMEDCT_US_2021_03_01:58069009"^^xsd:string, "UMLS_CUI:C0334353"^^xsd:string ; oboInOwl:hasExactSynonym "Ceruminous adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6446"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ceruminous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4933, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001352 ] . obo:DOID_6447 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6447"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ceruminous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6448 obo:IAO_0000115 "A vulva adenocarcinoma that has_material_basis in apocrine glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6448"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar apocrine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2098 . obo:DOID_6451 oboInOwl:hasDbXref "NCI:C5465"^^xsd:string, "UMLS_CUI:C1332879"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosarcoma of the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6451"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2133, obo:DOID_3355 . obo:DOID_6457 obo:IAO_0000115 "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3471"^^xsd:string ; oboInOwl:hasDbXref "GARD:6202"^^xsd:string, "MESH:D006223"^^xsd:string, "NCI:C3076"^^xsd:string, "NCI:C8419"^^xsd:string, "OMIM:PS158350"^^xsd:string, "ORDO:201"^^xsd:string, "SNOMEDCT_US_2021_03_01:58037000"^^xsd:string, "SNOMEDCT_US_2021_03_01:67944007"^^xsd:string, "UMLS_CUI:C0018553"^^xsd:string, "UMLS_CUI:C0391826"^^xsd:string ; oboInOwl:hasExactSynonym "Cowden disease"@en, "Lhermitte-Duclos disease"@en, "dysplastic Gangliocytoma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "multiple hamartoma syndrome"@en ; oboInOwl:id "DOID:6457"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI. OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Cowden syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080191 . obo:DOID_6458 oboInOwl:hasDbXref "GARD:10642"^^xsd:string, "NCI:C6905"^^xsd:string, "SNOMEDCT_US_2021_03_01:734134003"^^xsd:string, "UMLS_CUI:C1370507"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellar liponeurocytoma"@en, "Lipomatous Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6458"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellar liponeurocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4205 . obo:DOID_6459 oboInOwl:hasDbXref "NCI:C5551"^^xsd:string, "UMLS_CUI:C1335684"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoma of the rectum"^^xsd:string ; rdfs:subClassOf obo:DOID_6460, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] . obo:DOID_646 obo:IAO_0000115 "An encephalitis that involves inflammation of the brain caused by viral infection."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10248"^^xsd:string, "DOID:10249"^^xsd:string, "DOID:10839"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004671"^^xsd:string, "NCI:C34576"^^xsd:string, "SNOMEDCT_US_2021_03_01:68197003"^^xsd:string, "UMLS_CUI:C0014055"^^xsd:string ; oboInOwl:hasExactSynonym "epidemic encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:646"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_6460 obo:IAO_0000115 "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5678"^^xsd:string, "UMLS_CUI:C1333114"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of large Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6460"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large intestine lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315, obo:DOID_4610, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000059 ] . obo:DOID_6467 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6467"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone recurrent Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6468 obo:IAO_0000115 "A cystadenofibroma that is characterized by the presence of mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8979"^^xsd:string, "SNOMEDCT_US_2021_03_01:10705005"^^xsd:string, "UMLS_CUI:C1377844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6468"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5482 . obo:DOID_6469 obo:IAO_0000115 "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40040"^^xsd:string, "UMLS_CUI:C1518723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_647 obo:IAO_0000115 "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:647"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Polyomavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_6474 oboInOwl:hasDbXref "NCI:C6539"^^xsd:string, "UMLS_CUI:C1333008"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric testicular Teratocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6474"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood teratocarcinoma of the testis"^^xsd:string ; rdfs:subClassOf obo:DOID_6161, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6476 oboInOwl:hasDbXref "NCI:C39827"^^xsd:string, "UMLS_CUI:C1512737"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_6477 oboInOwl:hasDbXref "NCI:C27885"^^xsd:string, "UMLS_CUI:C1334281"^^xsd:string ; oboInOwl:hasExactSynonym "Invasive bladder Urothelial carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6477"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "invasive bladder transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4006 . obo:DOID_648 oboInOwl:hasDbXref "GARD:7617"^^xsd:string, "ICD10CM:A81.81"^^xsd:string, "ICD9CM:046.0"^^xsd:string, "MESH:D007729"^^xsd:string, "SNOMEDCT_US_2021_03_01:192684001"^^xsd:string, "UMLS_CUI:C0022802"^^xsd:string ; oboInOwl:hasExactSynonym "kuru encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:648"^^xsd:string ; a owl:Class ; rdfs:label "kuru"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_6481 oboInOwl:hasDbXref "NCI:C6163"^^xsd:string, "UMLS_CUI:C1332563"^^xsd:string ; oboInOwl:hasExactSynonym "urinary bladder Signet Ring adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "signet ring cell adenocarcinoma of bladder"@en ; oboInOwl:id "DOID:6481"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_6482 oboInOwl:hasDbXref "NCI:C5649"^^xsd:string, "UMLS_CUI:C1332137"^^xsd:string ; oboInOwl:hasExactSynonym "acinar adenocarcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6482"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung acinar adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_6483 obo:IAO_0000115 "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39956"^^xsd:string, "UMLS_CUI:C1514910"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6483"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete testis adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003959 ] . obo:DOID_6484 oboInOwl:hasDbXref "NCI:C6635"^^xsd:string, "UMLS_CUI:C1334668"^^xsd:string ; oboInOwl:hasExactSynonym "melanocytic Schwannoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6484"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal melanocytic neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3205 . obo:DOID_6488 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6488"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the iris"^^xsd:string ; owl:deprecated true . obo:DOID_6489 oboInOwl:hasDbXref "NCI:C8970"^^xsd:string, "SNOMEDCT_US_2021_03_01:91242000"^^xsd:string, "UMLS_CUI:C1377843"^^xsd:string ; oboInOwl:hasExactSynonym "Periosteal Osteosarcoma"@en, "Periosteal osteogenic sarcoma"@en, "Periosteal osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6489"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periosteal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3374 . obo:DOID_649 obo:IAO_0000115 "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A81.9"^^xsd:string, "KEGG:05020"^^xsd:string, "MESH:D017096"^^xsd:string, "NCI:C128346"^^xsd:string, "SNOMEDCT_US_2021_03_01:20484008"^^xsd:string, "UMLS_CUI:C0162534"^^xsd:string ; oboInOwl:hasExactSynonym "Prion disease pathway"@en, "Prion protein disease"@en, "Spongiform Encephalopathy"@en, "prion induced disorder"@en, "transmissible spongiform encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:649"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prion disease"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_6491 obo:IAO_0000115 "A breast hemangioma that is characterized by capillary-sized vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5210"^^xsd:string, "UMLS_CUI:C1332619"^^xsd:string ; oboInOwl:hasExactSynonym "Capillary Angioma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast capillary hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_476 . obo:DOID_6492 obo:IAO_0000115 "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5211"^^xsd:string, "UMLS_CUI:C1332627"^^xsd:string ; oboInOwl:hasExactSynonym "breast Histiocytoid hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6492"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast epithelioid hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_476 . obo:DOID_6494 oboInOwl:hasDbXref "NCI:C27377"^^xsd:string, "UMLS_CUI:C1332984"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric myxoid chondrosarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6494"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood myxoid chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5861, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6495 obo:IAO_0000115 "An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27378"^^xsd:string, "UMLS_CUI:C1332209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6495"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult myxoid chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5861, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6496 obo:IAO_0000115 "An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563195"^^xsd:string, "NCI:C27502"^^xsd:string, "OMIM:612237"^^xsd:string, "SNOMEDCT_US_2021_03_01:404079008"^^xsd:string, "UMLS_CUI:C1275278"^^xsd:string ; oboInOwl:hasExactSynonym "Myxoid extraosseous chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6496"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "extraskeletal myxoid chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4549 . obo:DOID_6498 oboInOwl:hasDbXref "GARD:3108"^^xsd:string, "ICD10CM:L82"^^xsd:string, "ICD9CM:702.1"^^xsd:string, "MESH:D017492"^^xsd:string, "NCI:C9006"^^xsd:string, "OMIM:182000"^^xsd:string, "SNOMEDCT_US_2021_03_01:201096007"^^xsd:string, "UMLS_CUI:C0022603"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6498"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "seborrheic keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_161, obo:DOID_174, obo:DOID_3165 . obo:DOID_65 obo:IAO_0000115 "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003240"^^xsd:string, "NCI:C26729"^^xsd:string, "SNOMEDCT_US_2021_03_01:201432001"^^xsd:string, "UMLS_CUI:C0009782"^^xsd:string ; oboInOwl:hasExactSynonym "connective tissue disorder"@en, "disorder of connective tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:65"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "connective tissue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_17, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] ) ] . obo:DOID_6500 oboInOwl:hasDbXref "NCI:C5146"^^xsd:string, "UMLS_CUI:C1332900"^^xsd:string ; oboInOwl:hasExactSynonym "Hemangioblastoma of Cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebellar angioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4205, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_6501 obo:IAO_0000115 "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5147"^^xsd:string, "UMLS_CUI:C1332611"^^xsd:string ; oboInOwl:hasExactSynonym "Hemangioblastoma of Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain stem angioblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_4203, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] . obo:DOID_6505 obo:IAO_0000115 "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40280"^^xsd:string, "UMLS_CUI:C1511107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6505"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal spindle cell epithelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_135 . obo:DOID_6506 oboInOwl:hasExactSynonym "Seminoma with high mitotic index"@en, "testicular Seminoma with High Mitotic Index"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6506"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic seminoma"^^xsd:string ; owl:deprecated true . obo:DOID_6510 oboInOwl:hasDbXref "NCI:C6686"^^xsd:string, "UMLS_CUI:C1335100"^^xsd:string ; oboInOwl:hasExactSynonym "Occult squamous cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "occult squamous cell carcinoma of lung"@en ; oboInOwl:id "DOID:6510"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung occult squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3907 . obo:DOID_6511 obo:IAO_0000115 "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39988"^^xsd:string, "UMLS_CUI:C1518747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6511"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "glandular pattern ovarian yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5350 . obo:DOID_6512 obo:IAO_0000115 "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39989"^^xsd:string, "UMLS_CUI:C1518748"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6512"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoid pattern ovarian yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5350 . obo:DOID_6514 obo:IAO_0000115 "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39987"^^xsd:string, "UMLS_CUI:C1518749"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyvesicular vitelline pattern ovarian yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5350 . obo:DOID_6517 oboInOwl:hasDbXref "NCI:C5289"^^xsd:string, "UMLS_CUI:C1333073"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Clivus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6517"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clivus meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4211, obo:DOID_4437 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004108 ] ) ] . obo:DOID_6518 obo:IAO_0000115 "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40300"^^xsd:string, "UMLS_CUI:C1511049"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland adenomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6518"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2068, obo:DOID_60002, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] . obo:DOID_652 oboInOwl:hasExactSynonym "Congenital malformation and deformation of the musculoskeletal system (disorder)"@en, "Congenital malformations and deformations of the musculoskeletal system (disorder)"@en, "Congenital musculoskeletal anomalies NOS"@en, "Congenital musculoskeletal anomalies NOS (disorder)"@en, "Congenital musculoskeletal deformities"@en, "Congenital musculoskeletal deformity NOS (disorder)"@en, "Skeletal anomaly-congen"@en, "congenital musculoskeletal anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:652"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital musculoskeletal abnormality"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_6522 oboInOwl:hasDbXref "NCI:C35781"^^xsd:string, "UMLS_CUI:C1334782"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed cell uveal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6039 . obo:DOID_6523 oboInOwl:hasDbXref "NCI:C35783"^^xsd:string, "UMLS_CUI:C1333051"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6523"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ciliary body mixed cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4352, obo:DOID_6522, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001775 ] . obo:DOID_6524 oboInOwl:hasDbXref "NCI:C4558"^^xsd:string, "SNOMEDCT_US_2021_03_01:255015006"^^xsd:string, "UMLS_CUI:C0346379"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of ciliary body"@en, "melanoma of the Ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6524"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant ciliary body melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4352 . obo:DOID_6525 oboInOwl:hasDbXref "NCI:C35782"^^xsd:string, "UMLS_CUI:C1333025"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6525"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid mixed cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6438 . obo:DOID_653 obo:IAO_0000115 "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E79.8"^^xsd:string, "ICD9CM:277.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:190917005"^^xsd:string, "UMLS_CUI:C0029595"^^xsd:string ; oboInOwl:hasExactSynonym "inborn errors of purine-pyrimidine metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:653"^^xsd:string ; a owl:Class ; rdfs:label "purine-pyrimidine metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_6530 oboInOwl:hasDbXref "NCI:C6888"^^xsd:string, "SNOMEDCT_US_2021_03_01:128713007"^^xsd:string, "UMLS_CUI:C1266095"^^xsd:string ; oboInOwl:hasExactSynonym "Polygonal cell Thymoma"@en, "Thymoma, cortical"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6530"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortical thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3282 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3275 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000398 ] ) ] . obo:DOID_6532 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6532"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monomorphic B-cell PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_6533 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6533"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monomorphic PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_6535 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete plasma cell PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_6536 obo:IAO_0000115 "A mature B-cell neoplasm that is composed of plasma cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000200"^^xsd:string, "MESH:D010265"^^xsd:string, "SNOMEDCT_US_2021_03_01:71390001"^^xsd:string, "UMLS_CUI:C1136084"^^xsd:string ; oboInOwl:hasExactSynonym "Plasma cell dyscrasia"@en, "Plasma cell tumour"@en, "Plasmacytic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6536"^^xsd:string ; a owl:Class ; rdfs:label "plasma cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_706 . obo:DOID_654 obo:IAO_0000115 "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content."^^xsd:string ; oboInOwl:hasDbXref "MESH:D044343"^^xsd:string, "SNOMEDCT_US_2021_03_01:302872003"^^xsd:string, "UMLS_CUI:C1257763"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:654"^^xsd:string ; a owl:Class ; rdfs:comment "Updated outdated UMLS CUI."^^xsd:string ; rdfs:label "overnutrition"^^xsd:string ; rdfs:subClassOf obo:DOID_374 . obo:DOID_6540 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6540"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transient organic mental disorder"^^xsd:string ; owl:deprecated true . obo:DOID_6543 obo:IAO_0000115 "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9906"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L70"^^xsd:string, "ICD10CM:L70.2"^^xsd:string, "ICD9CM:706.0"^^xsd:string, "MESH:D000152"^^xsd:string, "OMIM:604324"^^xsd:string, "SNOMEDCT_US_2021_03_01:11381005"^^xsd:string, "SNOMEDCT_US_2021_03_01:201210008"^^xsd:string, "UMLS_CUI:C0152249"^^xsd:string, "UMLS_CUI:C0702166"^^xsd:string ; oboInOwl:hasExactSynonym "Acne varioliformis"@en, "acne vulgaris"@en, "frontalis acne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6543"^^xsd:string ; a owl:Class ; rdfs:label "acne"^^xsd:string ; rdfs:subClassOf obo:DOID_9098 . obo:DOID_6544 oboInOwl:hasExactSynonym "Atypical meningioma"@en, "Atypical meningioma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6544"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atypical meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_6545 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6545"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult atypical meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_6546 oboInOwl:hasExactSynonym "secondary Heart Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6546"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary cardiac lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_6547 oboInOwl:hasDbXref "NCI:C5368"^^xsd:string, "UMLS_CUI:C1332850"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6547"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_117, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_6548 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4332"^^xsd:string, "SNOMEDCT_US_2021_03_01:73918009"^^xsd:string, "UMLS_CUI:C0334608"^^xsd:string ; oboInOwl:hasExactSynonym "Angiomatous meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6548"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiomatous meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_6549 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_655 obo:IAO_0000115 "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008661"^^xsd:string, "NCI:C34816"^^xsd:string, "SNOMEDCT_US_2021_03_01:86095007"^^xsd:string, "UMLS_CUI:C0025521"^^xsd:string ; oboInOwl:hasExactSynonym "Inborn Errors of Metabolism"@en, "Metabolic hereditary disorder"@en, "inborn metabolism disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:655"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "inherited metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0014667, obo:DOID_630 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0014667 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ) ] . obo:DOID_6552 oboInOwl:hasDbXref "NCI:C6764"^^xsd:string, "UMLS_CUI:C1333788"^^xsd:string ; oboInOwl:hasExactSynonym "small cell carcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6552"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_6553 oboInOwl:hasDbXref "NCI:C5282"^^xsd:string, "UMLS_CUI:C1335449"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Posterior Foramen Magnum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6553"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior foramen magnum meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4708 . obo:DOID_6554 obo:IAO_0000115 "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40079"^^xsd:string ; oboInOwl:hasExactSynonym "ovarian clear cell adenocarcinofibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6554"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian clear cell malignant adenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_6556 oboInOwl:hasExactSynonym "hamartoma of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6556"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of Spinal Cord"^^xsd:string ; owl:deprecated true . obo:DOID_6559 oboInOwl:hasDbXref "NCI:C6836"^^xsd:string, "UMLS_CUI:C1333476"^^xsd:string ; oboInOwl:hasExactSynonym "Schneiderian papilloma of the ethmoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6559"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus Schneiderian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1364 . obo:DOID_656 obo:IAO_0000115 "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland."^^xsd:string ; oboInOwl:hasDbXref "GARD:5745"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the Adrenal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:656"^^xsd:string ; a owl:Class ; rdfs:label "adrenal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_657, obo:DOID_9553, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002369 ] ) ] . obo:DOID_6562 oboInOwl:hasDbXref "NCI:C6843"^^xsd:string, "UMLS_CUI:C1333474"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the ethmoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1364, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_6563 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6563"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic testicular cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6564 oboInOwl:hasDbXref "NCI:C5418"^^xsd:string, "UMLS_CUI:C1335435"^^xsd:string ; oboInOwl:hasExactSynonym "Schwannoma of Pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6564"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurilemmoma of the pleura"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_1532, obo:DOID_956 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3192 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] ) ] . obo:DOID_6566 oboInOwl:hasAlternativeId "DOID:6746"^^xsd:string ; oboInOwl:hasDbXref "NCI:C9089"^^xsd:string, "NCI:C9090"^^xsd:string, "UMLS_CUI:C0278867"^^xsd:string, "UMLS_CUI:C0278868"^^xsd:string ; oboInOwl:hasExactSynonym "medium/large size posterior uveal melanoma"@en, "small size posterior uveal melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6566"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior uveal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6039 . obo:DOID_6567 obo:IAO_0000115 "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40175"^^xsd:string, "UMLS_CUI:C1519861"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6567"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus myxoid leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5289 . obo:DOID_6569 oboInOwl:hasDbXref "NCI:C40290"^^xsd:string, "UMLS_CUI:C1519982"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6569"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "micropapillomatosis labialis"^^xsd:string ; rdfs:subClassOf obo:DOID_2071 . obo:DOID_657 obo:IAO_0000115 "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2655"^^xsd:string ; oboInOwl:hasDbXref "MESH:D000236"^^xsd:string, "NCI:C2855"^^xsd:string, "NCI:C4196"^^xsd:string, "SNOMEDCT_US_2021_03_01:443416007"^^xsd:string, "SNOMEDCT_US_2021_03_01:79041005"^^xsd:string, "UMLS_CUI:C0001430"^^xsd:string, "UMLS_CUI:C0334389"^^xsd:string ; oboInOwl:hasExactSynonym "acinar cell adenoma"@en, "acinic cell adenoma"@en, "adenomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:657"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ) ] ; skos:exactMatch "MESH:D000236"^^xsd:string . obo:DOID_6571 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6571"^^xsd:string ; a owl:Class ; rdfs:label "non-invasive bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4006 . obo:DOID_6573 oboInOwl:hasExactSynonym "relapsed tumor of adult brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6573"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adult brain tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6574 oboInOwl:hasExactSynonym "Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality)"@en, "Papillary mucinous neoplasm of Low malignant Potential"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6574"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Borderline malignancy papillary mucinous cystadenoma"^^xsd:string ; owl:deprecated true . obo:DOID_6575 oboInOwl:hasDbXref "NCI:C7534"^^xsd:string, "UMLS_CUI:C1333014"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric visual pathway astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6575"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood optic tract astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4991, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6576 oboInOwl:hasDbXref "MESH:D020339"^^xsd:string, "NCI:C7535"^^xsd:string, "UMLS_CUI:C0278653"^^xsd:string ; oboInOwl:hasExactSynonym "glioma of the pediatric visual pathway"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6576"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood optic nerve glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4992, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6577 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6577"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with sebaceous adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_6578 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6578"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary sebaceous tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6579 obo:IAO_0000115 "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6724"^^xsd:string, "UMLS_CUI:C1334572"^^xsd:string ; oboInOwl:hasExactSynonym "malignant bone tumor of the Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "malignant bone neoplasm of chest wall"@en ; oboInOwl:id "DOID:6579"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chest wall bone cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_184 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] ) ] . obo:DOID_6581 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5141"^^xsd:string, "UMLS_CUI:C1332316"^^xsd:string ; oboInOwl:hasExactSynonym "breast Apocrine carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "apocrine carcinoma of breast"@en ; oboInOwl:id "DOID:6581"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast apocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_6585 obo:IAO_0000115 "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40366"^^xsd:string, "UMLS_CUI:C1518574"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6585"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oncocytic breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_6587 obo:IAO_0000115 "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9135"^^xsd:string, "UMLS_CUI:C1328544"^^xsd:string ; oboInOwl:hasExactSynonym "Invasive tubular carcinoma of breast"@en, "tubular carcinoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6587"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "invasive tubular breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3458 . obo:DOID_6590 oboInOwl:hasDbXref "ICD10CM:M46"^^xsd:string, "ICD9CM:720.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:202651004"^^xsd:string, "UMLS_CUI:C0029644"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6590"^^xsd:string ; a owl:Class ; rdfs:label "spondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1123 ; skos:exactMatch "MESH:D013166"^^xsd:string . obo:DOID_6594 oboInOwl:hasDbXref "NCI:C39835"^^xsd:string, "UMLS_CUI:C1511188"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder colonic type adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_6595 oboInOwl:hasDbXref "NCI:C5473"^^xsd:string, "UMLS_CUI:C1333791"^^xsd:string ; oboInOwl:hasExactSynonym "tubular adenocarcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6595"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric tubular adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3717 . obo:DOID_66 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:66"^^xsd:string ; a owl:Class ; rdfs:label "muscle tissue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000 . obo:DOID_660 oboInOwl:hasAlternativeId "DOID:3949"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C74.0"^^xsd:string, "MESH:D000306"^^xsd:string, "NCI:C2858"^^xsd:string, "NCI:C9327"^^xsd:string, "SNOMEDCT_US_2021_03_01:127022002"^^xsd:string, "SNOMEDCT_US_2021_03_01:93664009"^^xsd:string, "UMLS_CUI:C0001618"^^xsd:string, "UMLS_CUI:C0346402"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal cortical tumors"@en, "malignant Adrenocortical tumor"@en, "malignant neoplasm of adrenal cortex"@en, "malignant tumour of adrenal cortex"@en, "neoplasm of adrenal cortex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal cortex cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3952, obo:DOID_3953 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001235 ] ) ] . obo:DOID_6602 oboInOwl:hasExactSynonym "relapsed malignant Mesothelioma of Peritoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6602"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant peritoneal mesothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_6603 oboInOwl:hasDbXref "ICD10CM:M48.3"^^xsd:string, "ICD9CM:721.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:240218006"^^xsd:string, "UMLS_CUI:C0152088"^^xsd:string ; oboInOwl:hasExactSynonym "Kummell disease"@en, "Kummell's spondylitis"@en, "Traumatic spondylopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6603"^^xsd:string ; a owl:Class ; rdfs:label "Kummell's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1123 . obo:DOID_6604 oboInOwl:hasAlternativeId "DOID:12870"^^xsd:string, "DOID:12871"^^xsd:string, "DOID:8595"^^xsd:string ; oboInOwl:hasExactSynonym "Dorsal spondylosis without myelopathy"@en, "Spondylogenic compression of cervical spinal cord"@en, "Thoracic spondylosis without myelopathy"@en, "Thoracic spondylosis without myelopathy (disorder)"@en, "cervical spondylosis with myelopathy"@en, "cervical spondylosis with myelopathy (disorder)"@en, "cervical spondylosis without myelopathy"@en, "cervical spondylosis without myelopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spondylosis and allied disorder"^^xsd:string ; owl:deprecated true . obo:DOID_6605 oboInOwl:hasDbXref "NCI:C27888"^^xsd:string, "UMLS_CUI:C1333062"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6605"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "classic variant of chromophobe renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4471 . obo:DOID_6606 oboInOwl:hasDbXref "NCI:C27889"^^xsd:string, "UMLS_CUI:C1333405"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic variant of chromophobe renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4471 . obo:DOID_6607 oboInOwl:hasDbXref "NCI:C6997"^^xsd:string ; oboInOwl:hasExactSynonym "Hibernoma of nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6607"^^xsd:string ; a owl:Class ; rdfs:label "nervous system hibernoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6293 . obo:DOID_6608 oboInOwl:hasDbXref "NCI:C5661"^^xsd:string, "UMLS_CUI:C1333386"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6608"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endobronchial leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5136 . obo:DOID_6609 oboInOwl:hasExactSynonym "Basaloid squamous cell carcinoma of head and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6609"^^xsd:string ; a owl:Class ; rdfs:label "obsolete basaloid squamous cell carcinoma of the head and neck"^^xsd:string ; owl:deprecated true . obo:DOID_6610 oboInOwl:hasAlternativeId "DOID:487"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5396"^^xsd:string, "NCI:C6477"^^xsd:string, "SNOMEDCT_US_2021_03_01:685021000119103"^^xsd:string, "UMLS_CUI:C1332575"^^xsd:string, "UMLS_CUI:C1332578"^^xsd:string ; oboInOwl:hasExactSynonym "bone hemangioma"@en, "hemangioma of bone"@en, "osseous epithelioid hemangioma"@en, "osseous hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6610"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone epithelioid hemangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_6612 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:611"^^xsd:string ; oboInOwl:hasDbXref "GARD:9544"^^xsd:string, "MESH:D018370"^^xsd:string, "ORDO:2968"^^xsd:string, "UMLS_CUI:C0242597"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital leukocyte adherence deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6612"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000738 ] . obo:DOID_6613 obo:IAO_0000115 "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40259"^^xsd:string, "UMLS_CUI:C1519936"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6613"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal villous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5402 . obo:DOID_6618 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of unknown primary"@en ; oboInOwl:id "DOID:6618"^^xsd:string ; a owl:Class ; rdfs:label "obsolete unknown primary adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6620 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "GARD:73"^^xsd:string, "MESH:D053306"^^xsd:string, "NCI:C3990"^^xsd:string, "SNOMEDCT_US_2021_03_01:82286005"^^xsd:string, "UMLS_CUI:C0272236"^^xsd:string ; oboInOwl:hasExactSynonym "hyperimmunoglobulin M syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6620"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "X-linked hyper IgM syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_6621 obo:IAO_0000115 "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5433"^^xsd:string, "UMLS_CUI:C0877388"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of Cerebrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6621"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5393, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_6627 obo:IAO_0000115 "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40206"^^xsd:string, "UMLS_CUI:C1516423"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6627"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical adenoma malignum"^^xsd:string ; rdfs:subClassOf obo:DOID_3701, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_6628 oboInOwl:hasExactSynonym "malignant tumor of Nipple"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6628"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of nipple"^^xsd:string ; owl:deprecated true . obo:DOID_6629 obo:IAO_0000115 "A breast carcinoma that is located_in the nipple."^^xsd:string ; oboInOwl:hasDbXref "NCI:C28432"^^xsd:string, "UMLS_CUI:C1334966"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6629"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nipple carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002030 ] . obo:DOID_663 oboInOwl:hasDbXref "NCI:C6387"^^xsd:string, "UMLS_CUI:C1335936"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of scrotum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:663"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scrotal angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_255, obo:DOID_3165, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001300 ] . obo:DOID_6630 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6630"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6631 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6631"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with leiomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6632 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6632"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with angiosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6634 obo:IAO_0000115 "A choriocarcinoma that is located in the central nervous system of an adult."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5793"^^xsd:string, "UMLS_CUI:C1370505"^^xsd:string ; oboInOwl:hasExactSynonym "Choriocarcinoma of the adult central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3594, obo:DOID_3620, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3594 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_6639 obo:IAO_0000115 "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6206"^^xsd:string, "UMLS_CUI:C1377604"^^xsd:string ; oboInOwl:hasExactSynonym "Choriocarcinoma of the paediatric central nervous system"@en, "Choriocarcinoma of the pediatric central nervous system"@en, "paediatric CNS choriocarcinoma"@en, "pediatric CNS choriocarcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6639"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood CNS choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3594, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_664 oboInOwl:hasDbXref "NCI:C7752"^^xsd:string, "SNOMEDCT_US_2021_03_01:254789007"^^xsd:string, "UMLS_CUI:C0263639"^^xsd:string ; oboInOwl:hasExactSynonym "Angiokeratoma of Fordyce"@en, "Fordyce angiokeratoma"@en, "Fordyce's spot"@en, "Fordyce-type Angiokeratoma of scrotum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:664"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiokeratoma of Fordyce"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_6641 obo:IAO_0000115 "A breast papillomatosis that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9503"^^xsd:string, "SNOMEDCT_US_2021_03_01:708518001"^^xsd:string, "UMLS_CUI:C1334303"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile papillomatosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6641"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast juvenile papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1634, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_6643 oboInOwl:hasDbXref "ICD10CM:M48.2"^^xsd:string, "ICD9CM:721.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:202681007"^^xsd:string, "UMLS_CUI:C0158248"^^xsd:string ; oboInOwl:hasExactSynonym "Baastrup syndrome"@en, "Kissing spine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6643"^^xsd:string ; a owl:Class ; rdfs:label "Baastrup's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1123 . obo:DOID_6648 oboInOwl:hasDbXref "NCI:C8292"^^xsd:string, "UMLS_CUI:C0281332"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6648"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult pineoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5031, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6652 obo:IAO_0000115 "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine."^^xsd:string ; oboInOwl:hasDbXref "GARD:6460"^^xsd:string, "ICD10CM:M48.1"^^xsd:string, "ICD9CM:721.6"^^xsd:string, "MESH:D004057"^^xsd:string, "NCI:C84671"^^xsd:string, "OMIM:106400"^^xsd:string, "SNOMEDCT_US_2021_03_01:31487001"^^xsd:string, "UMLS_CUI:C0020498"^^xsd:string ; oboInOwl:hasExactSynonym "Ankylosing vertebral hyperostosis"@en, "DISH"@en, "Disseminated idiopathic skeletal hyperostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Forestier disease"@en ; oboInOwl:id "DOID:6652"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "diffuse idiopathic skeletal hyperostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_182, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_6654 oboInOwl:hasDbXref "NCI:C27405"^^xsd:string, "UMLS_CUI:C1332954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6654"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood central nervous system immature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6019, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6657 obo:IAO_0000115 "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40356"^^xsd:string, "UMLS_CUI:C1511316"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_6658 oboInOwl:hasAlternativeId "DOID:5721"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5672"^^xsd:string, "NCI:C6875"^^xsd:string, "SNOMEDCT_US_2021_03_01:128628002"^^xsd:string, "UMLS_CUI:C1265996"^^xsd:string, "UMLS_CUI:C1334363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6658"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_6659 obo:IAO_0000115 "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characerized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40214"^^xsd:string, "UMLS_CUI:C1516417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6659"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] . obo:DOID_6663 oboInOwl:hasExactSynonym "Tubulopapillary adenocarcinoma"@en, "adenocarcinoma in Tubulovillous adenoma"@en, "adenocarcinoma in tubulovillous adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6663"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillotubular adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6667 oboInOwl:hasExactSynonym "regressing naevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6667"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regressing nevus"^^xsd:string ; owl:deprecated true . obo:DOID_6675 oboInOwl:hasExactSynonym "MENOPAUSE SYNDROME"@en, "Menopausal syndrome (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6675"^^xsd:string ; a owl:Class ; rdfs:label "obsolete menopausal syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6676 obo:IAO_0000115 "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity."^^xsd:string ; oboInOwl:hasDbXref "GARD:6463"^^xsd:string, "ICD10CM:E23.6"^^xsd:string, "MESH:D007027"^^xsd:string, "NCI:C34625"^^xsd:string, "SNOMEDCT_US_2021_03_01:62999006"^^xsd:string, "UMLS_CUI:C0016724"^^xsd:string ; oboInOwl:hasExactSynonym "Babinski-Froelich syndrome"@en, "Froehlich syndrome"@en, "Froehlich's syndrome"@en, "Froelich's syndrome"@en, "adiposogenital syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6676"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Froelich syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1931 . obo:DOID_6677 obo:IAO_0000115 "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35699"^^xsd:string, "SNOMEDCT_US_2021_03_01:449784008"^^xsd:string, "UMLS_CUI:C1333292"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6677"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "No OMIM mapping, confirmed by DO. [LS]."^^xsd:string ; rdfs:label "diffuse infiltrative lymphocytosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_6678 obo:IAO_0000115 "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536736"^^xsd:string, "NCI:C40553"^^xsd:string, "OMIM:189500"^^xsd:string, "SNOMEDCT_US_2021_03_01:400036004"^^xsd:string, "UMLS_CUI:C0406735"^^xsd:string ; oboInOwl:hasExactSynonym "Hypoplastic enamel-onycholysis-hypohidrosis syndrome"@en, "Tooth and Nail syndrome"@en, "Witkop's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tooth and nail syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0001037 obo:UBERON_0001091 obo:UBERON_0001705 ) ] ] . obo:DOID_668 obo:IAO_0000115 "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009221"^^xsd:string, "NCI:C3253"^^xsd:string, "SNOMEDCT_US_2021_03_01:44551007"^^xsd:string, "UMLS_CUI:C0027122"^^xsd:string ; oboInOwl:hasExactSynonym "Myisitis ossificans"@en, "Ossification - muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:668"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myositis ossificans"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_6680 obo:IAO_0000115 "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002194"^^xsd:string, "NCI:C34446"^^xsd:string, "SNOMEDCT_US_2021_03_01:44906001"^^xsd:string, "UMLS_CUI:C0006895"^^xsd:string ; oboInOwl:hasExactSynonym "Capgras delusion theory"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Capgras syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_778 . obo:DOID_6681 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6681"^^xsd:string ; a owl:Class ; rdfs:comment "No OMIM mapping, confirmed by DO. [LS]."^^xsd:string ; rdfs:label "obsolete diffuse leiomyomatosis syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6682 obo:IAO_0000115 "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M43.1"^^xsd:string, "MESH:D013168"^^xsd:string, "NCI:C35033"^^xsd:string, "OMIM:184200"^^xsd:string, "SNOMEDCT_US_2021_03_01:157003009"^^xsd:string, "UMLS_CUI:C0038016"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6682"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spondylolisthesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_6683 obo:IAO_0000115 "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face."^^xsd:string ; oboInOwl:hasDbXref "GARD:4775"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:C535331"^^xsd:string, "NCI:C129720"^^xsd:string, "OMIM:305400"^^xsd:string, "SNOMEDCT_US_2021_03_01:205809002"^^xsd:string, "UMLS_CUI:C0175701"^^xsd:string ; oboInOwl:hasExactSynonym "Aarskog-Scott syndrome"@en, "Greig's syndrome"@en, "faciogenital dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked Aarskog syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111824, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_6686 obo:IAO_0000115 "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:8176"^^xsd:string, "MESH:C536012"^^xsd:string, "NCI:C35809"^^xsd:string, "OMIM:100700"^^xsd:string, "UMLS_CUI:C1332135"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6686"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Achard syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_6687 oboInOwl:hasDbXref "NCI:C35467"^^xsd:string, "SNOMEDCT_US_2021_03_01:238824006"^^xsd:string, "UMLS_CUI:C0473563"^^xsd:string ; oboInOwl:hasExactSynonym "Paroxysmal hematoma of the finger"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6687"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Achenbach syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_6688 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen."^^xsd:string ; oboInOwl:hasDbXref "GARD:8686"^^xsd:string, "ICD10CM:D89.82"^^xsd:string, "ICD9CM:279.41"^^xsd:string, "MESH:D056735"^^xsd:string, "NCI:C37864"^^xsd:string, "OMIM:601859"^^xsd:string, "ORDO:3261"^^xsd:string, "SNOMEDCT_US_2021_03_01:702444009"^^xsd:string, "UMLS_CUI:C1328840"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS"@en, "Canale-Smith syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6688"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "autoimmune lymphoproliferative syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 ; skos:exactMatch "MESH:D056735"^^xsd:string . obo:DOID_6689 oboInOwl:hasExactSynonym "Fat adherence syndrome of extraocular muscle (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6689"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adherence syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6690 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6690"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acroparesthesia syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_6691 obo:IAO_0000115 "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts."^^xsd:string ; oboInOwl:hasDbXref "GARD:370"^^xsd:string, "MESH:C535330"^^xsd:string, "NCI:C35709"^^xsd:string, "OMIM:214900"^^xsd:string, "ORDO:1414"^^xsd:string, "SNOMEDCT_US_2021_03_01:28724005"^^xsd:string, "UMLS_CUI:C0268314"^^xsd:string ; oboInOwl:hasExactSynonym "Cholestasis-edema syndrome, Norwegian type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6691"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Aagenaes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000046 ] . obo:DOID_6692 obo:IAO_0000115 "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M53.0"^^xsd:string, "MESH:D055010"^^xsd:string, "NCI:C34411"^^xsd:string, "SNOMEDCT_US_2021_03_01:17300000"^^xsd:string, "UMLS_CUI:C0376378"^^xsd:string ; oboInOwl:hasExactSynonym "Cervicocranial syndrome"@en, "Posterior cervical sympathetic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6692"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "No OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Barre-Lieou syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_6693 obo:IAO_0000115 "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39935"^^xsd:string, "UMLS_CUI:C1515290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular monophasic choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5551 . obo:DOID_6696 oboInOwl:hasDbXref "NCI:C6471"^^xsd:string, "UMLS_CUI:C1336544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6696"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synchronous multifocal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3360 . obo:DOID_6697 oboInOwl:hasDbXref "NCI:C6472"^^xsd:string, "UMLS_CUI:C1332342"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6697"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "asynchronous multifocal osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3360 . obo:DOID_67 oboInOwl:hasExactSynonym "nervous tissue disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:67"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neural tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_670 obo:IAO_0000115 "A substance abuse that involves the recurring use of amphetamines despite negative consequences."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12067"^^xsd:string, "DOID:14436"^^xsd:string, "DOID:669"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:305.7"^^xsd:string, "UMLS_CUI:C0154536"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:670"^^xsd:string ; a owl:Class ; rdfs:label "amphetamine abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_6700 oboInOwl:hasDbXref "NCI:C8398"^^xsd:string, "SNOMEDCT_US_2021_03_01:254555008"^^xsd:string, "UMLS_CUI:C0345799"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of Fundus of stomach"@en, "carcinoma of fundus of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric fundus carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10538, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001160 ] . obo:DOID_6702 oboInOwl:hasExactSynonym "recurrent carcinoma of the stomach"@en, "recurrent gastric cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent stomach cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6703 oboInOwl:hasDbXref "NCI:C6795"^^xsd:string, "UMLS_CUI:C1333787"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of Pylorus of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6703"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric pylorus carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10544, obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001166 ] . obo:DOID_6704 oboInOwl:hasExactSynonym "Undifferentiated carcinoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6704"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic gastric carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6705 oboInOwl:hasDbXref "NCI:C8399"^^xsd:string, "SNOMEDCT_US_2021_03_01:254557000"^^xsd:string, "UMLS_CUI:C0345804"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of body of stomach"@en, "carcinoma of body of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric body carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5517, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001161 ] . obo:DOID_6706 oboInOwl:hasDbXref "NCI:C40959"^^xsd:string, "UMLS_CUI:C1515294"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6706"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tubular variant testicular seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5842 . obo:DOID_6707 oboInOwl:hasDbXref "NCI:C4335"^^xsd:string, "SNOMEDCT_US_2021_03_01:354002"^^xsd:string, "UMLS_CUI:C0334616"^^xsd:string ; oboInOwl:hasExactSynonym "MPNST with Rhabdomyosarcoma"@en, "MPNST with rhabdomyoblastic differentiation"@en, "malignant Triton tumor"@en, "malignant Triton tumour"@en, "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6707"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant triton tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5940 . obo:DOID_6708 oboInOwl:hasExactSynonym "relapsed carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6708"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent ovarian epithelial cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6710 oboInOwl:hasExactSynonym "secondary carcinoma from the anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6710"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic anal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6712 obo:IAO_0000115 "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery."^^xsd:string ; oboInOwl:hasDbXref "GARD:9653"^^xsd:string, "ICD10CM:G83.82"^^xsd:string, "MESH:D020759"^^xsd:string, "SNOMEDCT_US_2021_03_01:282785008"^^xsd:string, "UMLS_CUI:C0221069"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior spinal artery occlusion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6712"^^xsd:string ; a owl:Class ; rdfs:label "anterior spinal artery syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_225, obo:DOID_6713 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005431 ] ) ] ; skos:exactMatch "MESH:D020759"^^xsd:string . obo:DOID_6713 obo:IAO_0000115 "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12214"^^xsd:string, "DOID:3455"^^xsd:string, "DOID:8231"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000712"^^xsd:string, "ICD10CM:I67.9"^^xsd:string, "ICD9CM:437.9"^^xsd:string, "MESH:D002561"^^xsd:string, "NCI:C2938"^^xsd:string, "SNOMEDCT_US_2021_03_01:266312006"^^xsd:string, "UMLS_CUI:C0007820"^^xsd:string ; oboInOwl:hasExactSynonym "CVA"@en, "Cerebrovascular accident"@en, "cerebrovascular accident"@en, "cerebrovascular disorder"@en, "stroke"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cerebrovascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178, obo:DOID_936 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_6714 oboInOwl:hasExactSynonym "Circumscribed Storiform Collagenoma"@en, "Circumscribed storiform collagenoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6714"^^xsd:string ; a owl:Class ; rdfs:label "obsolete circumscribed storiform collagenoma"^^xsd:string ; owl:deprecated true . obo:DOID_6715 oboInOwl:hasExactSynonym "Collagen hamartoma (morphologic abnormality)"@en, "Collagen naevus"@en, "Collagen nevus"@en, "Collagen nevus of skin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6715"^^xsd:string ; a owl:Class ; rdfs:label "obsolete collagen nevus of skin"^^xsd:string ; owl:deprecated true . obo:DOID_6716 oboInOwl:hasExactSynonym "Eruptive collagenoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6716"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eruptive collagenoma"^^xsd:string ; owl:deprecated true . obo:DOID_672 obo:IAO_0000115 "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:671"^^xsd:string ; oboInOwl:hasDbXref "GARD:7683"^^xsd:string, "ICD10CM:C26.1"^^xsd:string, "MESH:D013160"^^xsd:string, "NCI:C3383"^^xsd:string, "NCI:C3539"^^xsd:string, "SNOMEDCT_US_2021_03_01:127230005"^^xsd:string, "SNOMEDCT_US_2021_03_01:94071006"^^xsd:string, "UMLS_CUI:C0037999"^^xsd:string, "UMLS_CUI:C0153470"^^xsd:string ; oboInOwl:hasExactSynonym "Splenic neoplasm"@en, "malignant Splenic tumor"@en, "malignant tumour of spleen"@en, "spleen neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:672"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spleen cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_2529 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] ) ] . obo:DOID_6721 obo:IAO_0000115 "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39865"^^xsd:string, "UMLS_CUI:C1516285"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6721"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Littre gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3856, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_6723 oboInOwl:hasDbXref "NCI:C6886"^^xsd:string, "SNOMEDCT_US_2021_03_01:128710005"^^xsd:string, "UMLS_CUI:C1266093"^^xsd:string ; oboInOwl:hasExactSynonym "Thymoma, mixed type, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6723"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant type AB thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3280 . obo:DOID_6725 obo:IAO_0000115 "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10097"^^xsd:string, "DOID:12235"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M48.0"^^xsd:string, "ICD10CM:M48.02"^^xsd:string, "ICD10CM:M48.061"^^xsd:string, "ICD9CM:723.0"^^xsd:string, "ICD9CM:724.00"^^xsd:string, "MESH:D013130"^^xsd:string, "SNOMEDCT_US_2021_03_01:18347007"^^xsd:string, "SNOMEDCT_US_2021_03_01:268082002"^^xsd:string, "SNOMEDCT_US_2021_03_01:83561009"^^xsd:string, "UMLS_CUI:C0037944"^^xsd:string, "UMLS_CUI:C0158280"^^xsd:string, "UMLS_CUI:C0158288"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal stenosis of lumbar region"@en, "cervical spinal stenosis"@en, "lumbar spinal stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6725"^^xsd:string ; a owl:Class ; rdfs:label "spinal stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080007 . obo:DOID_6726 obo:IAO_0000115 "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001254"^^xsd:string, "NCI:C4322"^^xsd:string, "SNOMEDCT_US_2021_03_01:71314006"^^xsd:string, "UMLS_CUI:C0334582"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrillary Astrocytic tumors"@en, "diffuse astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6726"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrillary astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_6727 oboInOwl:hasDbXref "NCI:C6761"^^xsd:string, "UMLS_CUI:C1333099"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6727"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_219, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_6728 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6728"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric optic nerve astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_6729 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6729"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric optic nerve glioma"^^xsd:string ; owl:deprecated true . obo:DOID_6730 oboInOwl:hasExactSynonym "recurrent pediatric visual pathway astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6730"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood optic tract astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_6731 oboInOwl:hasExactSynonym "relapsed glioma of the pediatric visual pathway"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6731"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent glioma of childhood visual pathway"^^xsd:string ; owl:deprecated true . obo:DOID_6733 oboInOwl:hasDbXref "NCI:C96835"^^xsd:string, "UMLS_CUI:C1334257"^^xsd:string ; oboInOwl:hasExactSynonym "Cystadenoma of the Intrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intrahepatic bile duct cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5384, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003704 ] . obo:DOID_6735 oboInOwl:hasDbXref "NCI:C5323"^^xsd:string, "UMLS_CUI:C1334300"^^xsd:string ; oboInOwl:hasExactSynonym "Neurilemmoma of Jugular Foramen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6735"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schwannoma of jugular foramen"^^xsd:string ; rdfs:subClassOf obo:DOID_956 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3192 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005456 ] ) ] . obo:DOID_674 obo:IAO_0000115 "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q35"^^xsd:string, "ICD9CM:749.0"^^xsd:string, "MESH:D002972"^^xsd:string, "NCI:C87069"^^xsd:string, "ORDO:99772"^^xsd:string, "SNOMEDCT_US_2021_03_01:156940009"^^xsd:string, "UMLS_CUI:C0008925"^^xsd:string ; oboInOwl:hasExactSynonym "Palatoschisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:674"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cleft palate"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001733 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003216 ] . obo:DOID_6740 oboInOwl:hasDbXref "NCI:C7982"^^xsd:string, "UMLS_CUI:C0279674"^^xsd:string ; oboInOwl:hasExactSynonym "small cell carcinoma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "small cell carcinoma of the cervix"@en ; oboInOwl:id "DOID:6740"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893 . obo:DOID_6741 obo:IAO_0000115 "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8287"^^xsd:string, "UMLS_CUI:C0281267"^^xsd:string ; oboInOwl:hasExactSynonym "Bilateral breast carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6741"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bilateral breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_6742 oboInOwl:hasDbXref "NCI:C40370"^^xsd:string, "UMLS_CUI:C1515107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6742"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synchronous bilateral breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6741 . obo:DOID_6750 oboInOwl:hasExactSynonym "relapsed malignant fibrous Histiocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6750"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant fibrous histiocytoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_6752 obo:IAO_0000115 "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5452"^^xsd:string, "UMLS_CUI:C1334226"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Internal Auditory canal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "internal auditory canal lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080619, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_6755 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:37279009"^^xsd:string, "UMLS_CUI:C0333572"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloid neoplasm"@en, "Amyloid tumor"@en, "Amyloid tumour"@en, "amyloid tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6755"^^xsd:string ; a owl:Class ; rdfs:label "amyloid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_6758 obo:IAO_0000115 "A thoracic cancer that is located_in the chest wall."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3724"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4580"^^xsd:string, "NCI:C6712"^^xsd:string, "SNOMEDCT_US_2021_03_01:93754006"^^xsd:string, "UMLS_CUI:C0346948"^^xsd:string, "UMLS_CUI:C1332933"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the Chest Wall"@en, "chest wall cancer"@en, "lymphoma of chest wall"@en, "malignant neoplasm of chest wall"@en, "malignant tumor of Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6758"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chest wall lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5093, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] . obo:DOID_6759 obo:IAO_0000115 "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6620"^^xsd:string, "SNOMEDCT_US_2021_03_01:766935007"^^xsd:string, "UMLS_CUI:C1332582"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the bone"@en, "lymphoma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bone lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_184, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_676 obo:IAO_0000115 "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10129"^^xsd:string, "DOID:1264"^^xsd:string, "DOID:675"^^xsd:string ; oboInOwl:hasDbXref "GARD:3067"^^xsd:string, "ICD10CM:M08.4"^^xsd:string, "ICD9CM:714.3"^^xsd:string, "ICD9CM:714.31"^^xsd:string, "ICD9CM:714.32"^^xsd:string, "ICD9CM:714.33"^^xsd:string, "NCI:C26979"^^xsd:string, "NCI:C61279"^^xsd:string, "OMIM:604302"^^xsd:string, "ORDO:92"^^xsd:string, "SNOMEDCT_US_2021_03_01:201798003"^^xsd:string, "SNOMEDCT_US_2021_03_01:201799006"^^xsd:string, "SNOMEDCT_US_2021_03_01:74391003"^^xsd:string, "SNOMEDCT_US_2021_03_01:7441009"^^xsd:string, "UMLS_CUI:C0157916"^^xsd:string, "UMLS_CUI:C0157917"^^xsd:string, "UMLS_CUI:C0157918"^^xsd:string, "UMLS_CUI:C0409667"^^xsd:string ; oboInOwl:hasExactSynonym "Pauciarticular onset juvenile chronic arthritis"@en, "Still's disease"^^xsd:string, "acute juvenile rheumatoid arthritis"@en, "juvenile chronic polyarthritis"@en, "juvenile idiopathic arthritis"@en, "monarticular juvenile rheumatoid arthritis"@en, "pauciarticular juvenile arthritis"@en, "systemic juvenile rheumatoid arthritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:676"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "juvenile rheumatoid arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_7148, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000982 ] . obo:DOID_6760 oboInOwl:hasDbXref "UMLS_CUI:C0519063"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoma of lung"@en, "pulmonary Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6760"^^xsd:string ; a owl:Class ; rdfs:label "lung lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1324, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_6761 oboInOwl:hasExactSynonym "Cutaneous lymphoma (disorder)"@en, "Cutaneous lymphoma, NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6761"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skin lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_6762 oboInOwl:hasDbXref "NCI:C6716"^^xsd:string, "UMLS_CUI:C1336504"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Sternum"@en, "lymphoma of the sternum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6762"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sternum lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5090, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_6764 oboInOwl:hasExactSynonym "peripheral neuroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6764"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral neuroblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_6774 obo:IAO_0000115 "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39990"^^xsd:string, "UMLS_CUI:C1514199"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6774"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyembryoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_5351 . obo:DOID_6776 obo:IAO_0000115 "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40395"^^xsd:string, "UMLS_CUI:C1518167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6776"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast myoepithelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_6777 obo:IAO_0000115 "An endometrial adenocarcinoma that is characterized by papillary differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27846"^^xsd:string, "UMLS_CUI:C1336962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6777"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "villoglandular endometrial endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_6778 oboInOwl:hasExactSynonym "localized Urothelial carcinoma of the renal Pelvis and Ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6778"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal pelvis and ureter localized transitional cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_678 obo:IAO_0000115 "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:7471"^^xsd:string, "ICD10CM:G23.1"^^xsd:string, "MESH:D013494"^^xsd:string, "NCI:C85028"^^xsd:string, "OMIM:601104"^^xsd:string, "OMIM:609454"^^xsd:string, "OMIM:610898"^^xsd:string, "ORDO:683"^^xsd:string, "SNOMEDCT_US_2021_03_01:192975003"^^xsd:string, "UMLS_CUI:C0038868"^^xsd:string ; oboInOwl:hasExactSynonym "Steele-Richardson-Olszewski syndrome"@en, "progressive supranuclear ophthalmoplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:678"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "progressive supranuclear palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_6784 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6784"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pediatric desmoplastic small round cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_6785 obo:IAO_0000115 "A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass."^^xsd:string ; oboInOwl:hasDbXref "GARD:6265"^^xsd:string, "NCI:C8300"^^xsd:string ; oboInOwl:hasExactSynonym "desmoplastic small round-cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6785"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "desmoplastic small round cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_6786 obo:IAO_0000115 "A botryoid rhabdomyosarcoma that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35574"^^xsd:string, "UMLS_CUI:C1332944"^^xsd:string ; oboInOwl:hasExactSynonym "childhood sarcoma Botryoides"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6786"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3255, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6787 obo:IAO_0000115 "A vagina botryoid rhabdomyosarcoma that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35556"^^xsd:string, "UMLS_CUI:C1332945"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal childhood sarcoma Botryoides"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6787"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood vagina botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6788, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6788 obo:IAO_0000115 "A botryoid rhabdomyosarcoma that is located_in the vagina."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40268"^^xsd:string, "UMLS_CUI:C1511275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6788"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagina botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_119, obo:DOID_3255 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3255 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_6789 oboInOwl:hasDbXref "NCI:C36098"^^xsd:string, "UMLS_CUI:C1332946"^^xsd:string ; oboInOwl:hasExactSynonym "childhood sarcoma Botryoides of the Vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6789"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar childhood botryoid-type embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2096, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_679 obo:IAO_0000115 "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia with_material_basis_in diseased components of the basal ganglia and associated neural circuits."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001480"^^xsd:string, "SNOMEDCT_US_2021_03_01:70835005"^^xsd:string, "UMLS_CUI:C0004782"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:679"^^xsd:string ; a owl:Class ; rdfs:label "basal ganglia disease"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_6792 oboInOwl:hasExactSynonym "mixed Yolk Sac tumor and teratoma with Seminoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6792"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_68 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:68"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphomyeloid tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_680 obo:IAO_0000115 "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D024801"^^xsd:string, "UMLS_CUI:C0949664"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:680"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "tauopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_6801 obo:IAO_0000115 "A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient."^^xsd:string ; oboInOwl:hasExactSynonym "recurrent Hematologic Malignancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6801"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent hematologic cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6802 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6802"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed precursor T lymphoblastic lymphoma/leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_6803 obo:IAO_0000115 "A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed adult acute lymphoid Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6803"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adult acute lymphocytic leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_6804 obo:IAO_0000115 "A sarcoma of colon that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5516"^^xsd:string, "UMLS_CUI:C1333091"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Kaposi's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6804"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon Kaposi sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5260 . obo:DOID_6807 oboInOwl:hasExactSynonym "Moniliform hamartoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6807"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma Moniliformis"^^xsd:string ; owl:deprecated true . obo:DOID_6808 oboInOwl:hasExactSynonym "Basal cell nevus with Comedones"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6808"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Basaloid follicular hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_6809 obo:IAO_0000115 "A vaginal adenoma that resembles the colorectal tubular adenoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40257"^^xsd:string, "UMLS_CUI:C1519932"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6809"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal tubular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5402 . obo:DOID_681 oboInOwl:hasDbXref "GARD:10928"^^xsd:string, "ICD10CM:G12.22"^^xsd:string, "ICD9CM:335.22"^^xsd:string, "MESH:D010244"^^xsd:string, "NCI:C85026"^^xsd:string, "SNOMEDCT_US_2021_03_01:54304004"^^xsd:string, "UMLS_CUI:C0030442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "progressive bulbar palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_231 . obo:DOID_6811 obo:IAO_0000115 "A pilocytic astrocytoma that occurs during adolescence."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001254"^^xsd:string, "NCI:C27081"^^xsd:string, "UMLS_CUI:C0280783"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6811"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "juvenile pilocytic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4851, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6812 obo:IAO_0000115 "A pilocytic astrocytoma that occurs during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4048"^^xsd:string, "UMLS_CUI:C1332995"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Pilocytic astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6812"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood pilocytic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4851, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_682 oboInOwl:hasDbXref "GARD:6141"^^xsd:string, "ICD10CM:T79.A0"^^xsd:string, "ICD9CM:958.90"^^xsd:string, "MESH:D003161"^^xsd:string, "NCI:C118422"^^xsd:string, "SNOMEDCT_US_2021_03_01:212379008"^^xsd:string, "UMLS_CUI:C0009492"^^xsd:string ; oboInOwl:hasExactSynonym "Compartment syndrome"@en, "Compartmental syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:682"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "compartment syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_326 . obo:DOID_6820 oboInOwl:hasExactSynonym "grade III pediatric astrocytoma of the brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6820"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic childhood astrocytoma of brain"^^xsd:string ; owl:deprecated true . obo:DOID_6823 oboInOwl:hasDbXref "GARD:4210"^^xsd:string, "MESH:C537162"^^xsd:string, "NCI:C4265"^^xsd:string, "SNOMEDCT_US_2021_03_01:189814006"^^xsd:string, "UMLS_CUI:C0334489"^^xsd:string ; oboInOwl:hasExactSynonym "Pancreatoblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6823"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4905 . obo:DOID_6826 oboInOwl:hasExactSynonym "relapsed pancreatic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6826"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of pancreas"^^xsd:string ; owl:deprecated true . obo:DOID_6827 obo:IAO_0000115 "A pancreatic carcinoma that is characterized by its papillary architecture."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5728"^^xsd:string, "SNOMEDCT_US_2021_03_01:782697005"^^xsd:string, "UMLS_CUI:C1336029"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic solid Pseudopapillary carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6827"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic solid pseudopapillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4905 . obo:DOID_6828 oboInOwl:hasExactSynonym "Unresectable pancreatic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6828"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-resectable pancreatic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_683 oboInOwl:hasDbXref "MESH:D009443"^^xsd:string, "NCI:C3500"^^xsd:string, "SNOMEDCT_US_2021_03_01:95663000"^^xsd:string, "UMLS_CUI:C0235025"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral motor Neuropathy"@en, "peripheral motor neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "motor neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_231 . obo:DOID_6830 oboInOwl:hasExactSynonym "pancreatic carcinoma, Resectable"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6830"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable pancreas carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6835 oboInOwl:hasExactSynonym "recurrent anal canal cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6835"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent anal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6837 obo:IAO_0000115 "A rete ovarii benign neoplasm that derives_from glandular epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40018"^^xsd:string, "SNOMEDCT_US_2021_03_01:703654008"^^xsd:string, "UMLS_CUI:C1514905"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6837"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete ovarii adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_4895, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_6838 obo:IAO_0000115 "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40020"^^xsd:string, "UMLS_CUI:C1514906"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rete ovarii cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_2683, obo:DOID_4895, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000499 ] . obo:DOID_6839 obo:IAO_0000115 "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27942"^^xsd:string, "UMLS_CUI:C1334631"^^xsd:string ; oboInOwl:hasExactSynonym "Intraductal Proliferative Lesion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6839"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast intraductal proliferative lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_3013 . obo:DOID_684 obo:IAO_0000115 "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5005"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000182"^^xsd:string, "ICD10CM:C22.0"^^xsd:string, "ICDO:M8170/3"^^xsd:string, "NCI:C3099"^^xsd:string, "OMIM:114550"^^xsd:string, "ORDO:88673"^^xsd:string, "SNOMEDCT_US_2019_09_01:109841003"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:684"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hepatocellular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_686 . obo:DOID_6840 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6840"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glandular cell intraepithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_6841 obo:IAO_0000115 "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36086"^^xsd:string, "SNOMEDCT_US_2021_03_01:860895001"^^xsd:string, "UMLS_CUI:C1333620"^^xsd:string ; oboInOwl:hasExactSynonym "Flat ductal epithelial Atypia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "flat ductal epithelial atypia"^^xsd:string ; rdfs:subClassOf obo:DOID_6839 . obo:DOID_6844 oboInOwl:hasDbXref "NCI:C6186"^^xsd:string, "UMLS_CUI:C1335752"^^xsd:string ; oboInOwl:hasExactSynonym "sarcomatoid transitional cell carcinoma of renal Pelvis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney pelvis sarcomatoid transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_4919, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001224 ] . obo:DOID_6845 oboInOwl:hasDbXref "NCI:C39879"^^xsd:string, "UMLS_CUI:C1512750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6845"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating ureter transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6888 . obo:DOID_6846 oboInOwl:hasDbXref "NCI:C8498"^^xsd:string, "UMLS_CUI:C1512419"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6846"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909 . obo:DOID_6847 obo:IAO_0000115 "A botryoid rhabdomyosarcoma that is present in an adult."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36099"^^xsd:string, "UMLS_CUI:C1332185"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6847"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3255, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6848 obo:IAO_0000115 "A vagina botryoid rhabdomyosarcoma that presents in adulthood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40267"^^xsd:string, "UMLS_CUI:C1515893"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult vagina botryoid rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6788, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_6849 obo:IAO_0000115 "A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation."^^xsd:string ; oboInOwl:hasExactSynonym "ITGCNU"@en, "testicular Intraepithelial Neoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6849"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular intratubular germ cell neoplasia of the unclassified type"^^xsd:string ; owl:deprecated true . obo:DOID_6850 oboInOwl:hasExactSynonym "hamartoma of the Eccrine Sweat gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6850"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of Eccrine Sweat gland"^^xsd:string ; owl:deprecated true . obo:DOID_6851 oboInOwl:hasExactSynonym "Porokeratotic Eccrine duct and Hair Follicle nevus"@en, "Porokeratotic eccrine ostial and dermal duct nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6851"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Linear Eccrine nevus with Comedones"^^xsd:string ; owl:deprecated true . obo:DOID_6852 oboInOwl:hasExactSynonym "Eccrine Angiomatous nevus"@en, "Eccrine angiomatous hamartoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6852"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eccrine angiomatous hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_6854 oboInOwl:hasDbXref "NCI:C5309"^^xsd:string, "UMLS_CUI:C1333475"^^xsd:string ; oboInOwl:hasExactSynonym "primary Ectopic meningioma of ethmoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6854"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinus ectopic meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1364 . obo:DOID_6856 oboInOwl:hasDbXref "NCI:C6753"^^xsd:string, "UMLS_CUI:C1335419"^^xsd:string ; oboInOwl:hasExactSynonym "teratoma of Pineal Area"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1660 . obo:DOID_6857 obo:IAO_0000115 "A mature teratoma that is located_in the pineal region."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6754"^^xsd:string, "UMLS_CUI:C1335417"^^xsd:string ; oboInOwl:hasExactSynonym "Mature teratoma of the Pineal Area"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6857"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region mature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6856, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001905 ] . obo:DOID_6858 oboInOwl:hasDbXref "NCI:C6755"^^xsd:string, "UMLS_CUI:C1335416"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical Pineal teratoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6858"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region immature teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6856 . obo:DOID_686 obo:IAO_0000115 "A liver cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7927"^^xsd:string, "UMLS_CUI:C0279000"^^xsd:string ; oboInOwl:hasExactSynonym "Liver and Intrahepatic bile duct carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:686"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3571, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_6860 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6860"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Endobronchial hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_6861 oboInOwl:hasExactSynonym "relapsed cancer of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6861"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of gallbladder"^^xsd:string ; owl:deprecated true . obo:DOID_6865 obo:IAO_0000115 "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27849"^^xsd:string, "UMLS_CUI:C1518768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oxyphilic endometrial endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_6867 oboInOwl:hasDbXref "NCI:C37870"^^xsd:string, "UMLS_CUI:C1334657"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6867"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal gray zone lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5822, obo:DOID_6868 . obo:DOID_6868 oboInOwl:hasDbXref "NCI:C6633"^^xsd:string, "UMLS_CUI:C1334665"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinal malignant lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5559 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060058 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] ) ] . obo:DOID_6869 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4960"^^xsd:string, "UMLS_CUI:C0751304"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6869"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parasagittal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6114 . obo:DOID_687 oboInOwl:hasDbXref "GARD:2657"^^xsd:string, "ICD10CM:C22.2"^^xsd:string, "ICDO:M8970/3"^^xsd:string, "MESH:D018197"^^xsd:string, "NCI:C3728"^^xsd:string, "SNOMEDCT_US_2021_03_01:109843000"^^xsd:string, "UMLS_CUI:C0206624"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:687"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3571 . obo:DOID_6870 oboInOwl:hasExactSynonym "Cockade nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6870"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cockade nevus"^^xsd:string ; owl:deprecated true . obo:DOID_6871 oboInOwl:hasDbXref "NCI:C5155"^^xsd:string, "UMLS_CUI:C1336046"^^xsd:string ; oboInOwl:hasExactSynonym "neuroblastoma of the Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6871"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6872 . obo:DOID_6872 oboInOwl:hasDbXref "NCI:C5406"^^xsd:string, "UMLS_CUI:C1336048"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal Cord PNET"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6872"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord primitive neuroectodermal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_171, obo:DOID_5612 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_171 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_6873 obo:IAO_0000115 "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3374"^^xsd:string, "SNOMEDCT_US_2021_03_01:156440000"^^xsd:string, "UMLS_CUI:C0037293"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroepithelial polyp"@en, "Fibroepithelial polyp of skin"@en, "cutaneous tag"@en, "soft fibroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6873"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin tag"^^xsd:string ; rdfs:subClassOf obo:DOID_2053 . obo:DOID_6874 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6874"^^xsd:string ; a owl:Class ; rdfs:label "obsolete type 1a ALPS"^^xsd:string ; owl:deprecated true . obo:DOID_6876 oboInOwl:hasExactSynonym "pediatric mixed type Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6876"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed childhood rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6879 oboInOwl:hasExactSynonym "hamartoma of the Apocrine Sweat gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6879"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hamartoma of Apocrine Sweat gland"^^xsd:string ; owl:deprecated true . obo:DOID_688 obo:IAO_0000115 "A germ cell cancer that is associated with an embryo."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009373"^^xsd:string, "NCI:C3264"^^xsd:string, "UMLS_CUI:C0027654"^^xsd:string ; oboInOwl:hasExactSynonym "embryo neoplasm"@en, "embryonal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:688"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2994 . obo:DOID_6880 obo:IAO_0000115 "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5336"^^xsd:string, "UMLS_CUI:C1335994"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosarcoma, small Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6880"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small bowel fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3355, obo:DOID_5272 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3355 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_6886 oboInOwl:hasDbXref "NCI:C6176"^^xsd:string, "UMLS_CUI:C1336878"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6886"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11819, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] . obo:DOID_6887 oboInOwl:hasExactSynonym "recurrent Ureter carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6887"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent ureteric cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6888 oboInOwl:hasDbXref "NCI:C4830"^^xsd:string, "SNOMEDCT_US_2021_03_01:300988009"^^xsd:string, "UMLS_CUI:C0577692"^^xsd:string ; oboInOwl:hasExactSynonym "transitional cell carcinoma of ureter"@en, "ureteral Urothelial cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6888"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2671, obo:DOID_4939, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000244 ] . obo:DOID_6893 oboInOwl:hasExactSynonym "AIDS Related carcinoma of the uterine Cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6893"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cervical cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6894 oboInOwl:hasExactSynonym "AIDS-Related Kaposi's sarcoma of Cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6894"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cervical Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6895 obo:IAO_0000115 "A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS with Kaposi's sarcoma (disorder)"@en, "Autoimmune deficiency syndrome-Related Kaposi sarcoma"@en, "Epidemic Kaposi's sarcoma"@en, "HIV disease resulting in Kaposi's sarcoma (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6895"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_6897 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6897"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Malposition and malpresentation of fetus"^^xsd:string ; owl:deprecated true . obo:DOID_6898 obo:IAO_0000115 "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6899"^^xsd:string ; oboInOwl:hasDbXref "NCI:C40090"^^xsd:string, "UMLS_CUI:C0279392"^^xsd:string ; oboInOwl:hasExactSynonym "mixed epithelial carcinoma of Ovary"@en, "ovary mixed epithelial carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6898"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian seromucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_6899 obo:IAO_0000115 "A mixed epithelial tumor of ovary that is cancerous."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6899"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant ovarian mixed epithelial neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_69 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:69"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hemopoetic tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_690 oboInOwl:hasExactSynonym "pediatric cancer of the Liver"@en, "pediatric carcinoma of the Liver cell"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:690"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood cancer of liver"^^xsd:string ; owl:deprecated true . obo:DOID_6901 oboInOwl:hasDbXref "NCI:C36102"^^xsd:string, "UMLS_CUI:C1333992"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6901"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familiar ovarian carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2152, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_6903 obo:IAO_0000115 "A lymphoma by site that is manifested in immune system cells called lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35690"^^xsd:string, "UMLS_CUI:C1333519"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eye lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_2174, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_6905 obo:IAO_0000115 "A herpes zoster that is complicated_by AIDS."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6905"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related herpes zoster"^^xsd:string ; owl:deprecated true . obo:DOID_6906 obo:IAO_0000115 "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27496"^^xsd:string, "SNOMEDCT_US_2021_03_01:703603008"^^xsd:string, "UMLS_CUI:C1333824"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6906"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomangiomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5238 . obo:DOID_6917 oboInOwl:hasDbXref "NCI:C6887"^^xsd:string, "SNOMEDCT_US_2021_03_01:128711009"^^xsd:string, "UMLS_CUI:C1266094"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphocyte-Predominant Thymoma"@en, "Thymoma, organoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "predominantly cortical thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3282 . obo:DOID_6919 oboInOwl:hasAlternativeId "DOID:6918"^^xsd:string ; oboInOwl:hasExactSynonym "Extramucosal (Perianal) adenocarcinoma of anus"@en, "adenocarcinoma of anus within Anorectal fistula"@en, "adenocarcinoma of the anus within Anorectal fistula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "extramucosal (perianal) adenocarcinoma of the anus"@en ; oboInOwl:id "DOID:6919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete extramucosal (perianal) adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_6923 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6923"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fibrolipomatous hamartoma of peripheral nerve"^^xsd:string ; owl:deprecated true . obo:DOID_6925 oboInOwl:hasDbXref "ICD10CM:G57.3"^^xsd:string, "MESH:D020427"^^xsd:string, "NCI:C27061"^^xsd:string, "SNOMEDCT_US_2021_03_01:34553007"^^xsd:string, "UMLS_CUI:C0270810"^^xsd:string ; oboInOwl:hasExactSynonym "Peroneal nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6925"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peroneal nerve paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_574 . obo:DOID_6929 oboInOwl:hasDbXref "ICD10CM:H35.81"^^xsd:string, "ICD9CM:362.83"^^xsd:string, "MESH:D010211"^^xsd:string, "SNOMEDCT_US_2021_03_01:6141006"^^xsd:string, "UMLS_CUI:C0242420"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6929"^^xsd:string ; a owl:Class ; rdfs:label "retinal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_693 oboInOwl:hasDbXref "MESH:D003744"^^xsd:string, "NCI:C34529"^^xsd:string, "SNOMEDCT_US_2021_03_01:699382004"^^xsd:string, "UMLS_CUI:C0011351"^^xsd:string ; oboInOwl:hasExactSynonym "Enamel Hypoplasia"@en, "Enamel hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dental enamel hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_6931 oboInOwl:hasDbXref "UMLS_CUI:C0861858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6931"^^xsd:string ; a owl:Class ; rdfs:label "papillary extrahepatic bile duct adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3495 . obo:DOID_6932 oboInOwl:hasDbXref "NCI:C39859"^^xsd:string, "SNOMEDCT_US_2021_03_01:447765004"^^xsd:string, "UMLS_CUI:C1511190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6932"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary bladder inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_6933 oboInOwl:hasAlternativeId "DOID:2141"^^xsd:string ; oboInOwl:hasDbXref "NCI:C3842"^^xsd:string, "NCI:C39858"^^xsd:string, "SNOMEDCT_US_2021_03_01:189459005"^^xsd:string, "SNOMEDCT_US_2021_03_01:45083001"^^xsd:string, "UMLS_CUI:C0235754"^^xsd:string, "UMLS_CUI:C1384678"^^xsd:string ; oboInOwl:hasExactSynonym "Urothelial papilloma"@en, "bladder papilloma"@en, "transitional cell papilloma of bladder"@en, "urinary bladder Urothelial papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6933"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder transitional cell papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_5432 . obo:DOID_6934 oboInOwl:hasDbXref "NCI:C6173"^^xsd:string, "UMLS_CUI:C1336887"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2140, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_6935 oboInOwl:hasDbXref "NCI:C6174"^^xsd:string, "UMLS_CUI:C1336874"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral Inverted papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6935"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_6936, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_6936 oboInOwl:hasDbXref "NCI:C6160"^^xsd:string, "UMLS_CUI:C1519823"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter urothelial papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11885 . obo:DOID_6938 obo:IAO_0000115 "An intraocular retinoblastoma that effects children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9047"^^xsd:string, "UMLS_CUI:C1321869"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric intraocular retinoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6938"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood intraocular retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4653, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6939 obo:IAO_0000115 "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6253"^^xsd:string, "UMLS_CUI:C1332949"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric meningioma of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6939"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood brain meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060106, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_6943 obo:IAO_0000115 "An inverted follicular keratosis that is located_in the vulva."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40291"^^xsd:string, "UMLS_CUI:C1520084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6943"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar inverted follicular keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6944, obo:DOID_6945 . obo:DOID_6944 oboInOwl:hasDbXref "NCI:C6375"^^xsd:string, "UMLS_CUI:C1336981"^^xsd:string ; oboInOwl:hasExactSynonym "Seborrheic Keratosis of Vulva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6944"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar seborrheic keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060109, obo:DOID_6498, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] . obo:DOID_6945 oboInOwl:hasDbXref "NCI:C9007"^^xsd:string, "SNOMEDCT_US_2021_03_01:201096007"^^xsd:string, "UMLS_CUI:C0334019"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted Follicular Keratosis"@en, "Inverted folicular keratosis"@en, "Inverted follicular keratosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6945"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inverted follicular keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6498 . obo:DOID_6947 oboInOwl:hasDbXref "NCI:C6792"^^xsd:string, "SNOMEDCT_US_2021_03_01:126679002"^^xsd:string, "UMLS_CUI:C0345676"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of sphenoidal sinus"@en, "tumor of Sphenoidal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6947"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoidal sinus benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1350 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001724 ] ) ] . obo:DOID_6948 obo:IAO_0000115 "A malignant teratoma that has_material_basis_in gastric tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5256"^^xsd:string, "UMLS_CUI:C1334151"^^xsd:string ; oboInOwl:hasExactSynonym "malignant teratoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant gastric teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4716, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_6950 obo:IAO_0000115 "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003130"^^xsd:string, "UMLS_CUI:C0009426"^^xsd:string ; oboInOwl:hasExactSynonym "Combat Neurosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6950"^^xsd:string ; a owl:Class ; rdfs:label "combat disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_6088 . obo:DOID_6951 oboInOwl:hasDbXref "NCI:C3902"^^xsd:string, "SNOMEDCT_US_2021_03_01:78453009"^^xsd:string, "UMLS_CUI:C0259782"^^xsd:string ; oboInOwl:hasExactSynonym "Telangiectatic osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6951"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "telangiectatic osteogenic sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3378 . obo:DOID_6954 obo:IAO_0000115 "An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects."^^xsd:string ; oboInOwl:hasExactSynonym "EBV Related Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6954"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Epstein-Barr virus related lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_6955 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6955"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intracranial melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_6956 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6956"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant intracranial neoplasm By Morphology"^^xsd:string ; owl:deprecated true . obo:DOID_6958 obo:IAO_0000115 "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5630"^^xsd:string, "UMLS_CUI:C1332232"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6958"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aleukemic monocytic leukemia cutis"^^xsd:string ; rdfs:subClassOf obo:DOID_6003 . obo:DOID_6959 oboInOwl:hasDbXref "NCI:C5555"^^xsd:string, "UMLS_CUI:C1333074"^^xsd:string ; oboInOwl:hasExactSynonym "transitional Zone carcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6959"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectal cloacogenic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5528 . obo:DOID_6961 obo:IAO_0000115 "A Bartholin's gland carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40293"^^xsd:string, "UMLS_CUI:C1511052"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin gland squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6961"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_3999, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_6962 oboInOwl:hasExactSynonym "recurrent Cutaneous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6962"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of skin"^^xsd:string ; owl:deprecated true . obo:DOID_6969 obo:IAO_0000115 "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04.33"^^xsd:string, "ICD9CM:375.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:84399007"^^xsd:string, "UMLS_CUI:C0339130"^^xsd:string ; oboInOwl:hasExactSynonym "acute canaliculitis, lacrimal"@en, "acute lacrimal canaliculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6969"^^xsd:string ; a owl:Class ; rdfs:label "acute canaliculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6970 . obo:DOID_6970 oboInOwl:hasDbXref "ICD10CM:H04.3"^^xsd:string, "ICD9CM:375.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:302900006"^^xsd:string, "UMLS_CUI:C0339129"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6970"^^xsd:string ; a owl:Class ; rdfs:label "acute inflammation of lacrimal passage"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_6975 oboInOwl:hasDbXref "NCI:C7383"^^xsd:string, "UMLS_CUI:C1518882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "urothelial papillary carcinoma of the bladder"@en ; oboInOwl:id "DOID:6975"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urothelial papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4006 . obo:DOID_6976 oboInOwl:hasDbXref "NCI:C27202"^^xsd:string, "UMLS_CUI:C1517579"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "micropapillary variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_6977 oboInOwl:hasDbXref "MESH:D003969"^^xsd:string, "NCI:C3488"^^xsd:string, "SNOMEDCT_US_2021_03_01:70091000"^^xsd:string, "UMLS_CUI:C0086768"^^xsd:string ; oboInOwl:hasExactSynonym "Excessive vasoactive intestinal peptide secretion"@en, "Verner-Morrison syndrome"@en, "pancreatic WDHA syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6977"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic cholera"^^xsd:string ; rdfs:subClassOf obo:DOID_1428 . obo:DOID_698 oboInOwl:hasDbXref "MESH:D003807"^^xsd:string, "NCI:C50778"^^xsd:string, "SNOMEDCT_US_2021_03_01:13468005"^^xsd:string, "UMLS_CUI:C0011432"^^xsd:string ; oboInOwl:hasExactSynonym "Sensitive dentin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dentin sensitivity"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_6980 oboInOwl:hasExactSynonym "relapsed Rectosigmoid cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent rectosigmoid cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6981 oboInOwl:hasExactSynonym "Colorectal carcinoma recurrent"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6981"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent colorectal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_6988 oboInOwl:hasDbXref "NCI:C27473"^^xsd:string, "UMLS_CUI:C1333306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6988"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6193 . obo:DOID_6989 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6989"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-neoplastic non-molar trophoblastic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_699 obo:IAO_0000115 "A myopathy that is characterized by mitochondrial dysfunction."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017240"^^xsd:string, "NCI:C101328"^^xsd:string, "OMIM:251900"^^xsd:string, "SNOMEDCT_US_2021_03_01:240096000"^^xsd:string, "UMLS_CUI:C0162670"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial cytopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:699"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mitochondrial myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_423 . obo:DOID_6990 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6990"^^xsd:string ; a owl:Class ; rdfs:label "obsolete placental site nodule or plaque"^^xsd:string ; owl:deprecated true . obo:DOID_6991 oboInOwl:hasExactSynonym "Exaggerated placental site (disorder)"@en, "Exaggerated placental site (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6991"^^xsd:string ; a owl:Class ; rdfs:label "obsolete exaggerated placental site"^^xsd:string ; owl:deprecated true . obo:DOID_6992 oboInOwl:hasDbXref "NCI:C7989"^^xsd:string, "UMLS_CUI:C0279693"^^xsd:string ; oboInOwl:hasExactSynonym "mixed cell type Uveal melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6992"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraocular mixed cell type melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1752 . obo:DOID_6993 oboInOwl:hasDbXref "NCI:C6101"^^xsd:string, "UMLS_CUI:C1334210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6993"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "iris mixed cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6992, obo:DOID_6994 . obo:DOID_6994 oboInOwl:hasDbXref "NCI:C9088"^^xsd:string, "SNOMEDCT_US_2021_03_01:255012009"^^xsd:string, "UMLS_CUI:C0346373"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of iris"@en, "melanoma of the Iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6994"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant iris melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3478 . obo:DOID_6995 oboInOwl:hasExactSynonym "metastasis to kidney"@en, "metastatic neoplasm to the kidney"@en, "secondary malignant neoplasm of kidney"@en, "secondary malignant neoplasm of kidney (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6995"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the kidney"^^xsd:string ; owl:deprecated true . obo:DOID_6996 oboInOwl:hasDbXref "NCI:C6100"^^xsd:string, "UMLS_CUI:C1334208"^^xsd:string ; oboInOwl:hasExactSynonym "mixed cell melanoma of Choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate cell type choroid melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6438, obo:DOID_6992 . obo:DOID_6997 oboInOwl:hasDbXref "NCI:C6118"^^xsd:string, "UMLS_CUI:C1334209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate cell type ciliary body melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6524, obo:DOID_6992 . obo:DOID_6998 oboInOwl:hasDbXref "NCI:C5744"^^xsd:string, "UMLS_CUI:C1333750"^^xsd:string ; oboInOwl:hasExactSynonym "Colloidal carcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:6998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder mucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4948 . obo:DOID_6999 oboInOwl:hasExactSynonym "recurrent squamous cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "recurrent squamous cell carcinoma of lung"@en ; oboInOwl:id "DOID:6999"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung recurrent squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7 obo:IAO_0000115 "A disease that manifests in a defined anatomical structure."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1"^^xsd:string, "DOID:2"^^xsd:string, "DOID:5"^^xsd:string, "DOID:71"^^xsd:string, "DOID:72"^^xsd:string, "DOID:8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "disease of anatomical entity"^^xsd:string ; rdfs:subClassOf obo:DOID_4 . obo:DOID_70 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:70"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphoid tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_700 obo:IAO_0000115 "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:7048"^^xsd:string, "MESH:D028361"^^xsd:string, "SNOMEDCT_US_2021_03_01:240096000"^^xsd:string, "UMLS_CUI:C0751651"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:700"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "mitochondrial metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_7001 oboInOwl:hasExactSynonym "relapsed large cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent large cell carcinoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_7002 oboInOwl:hasExactSynonym "lung Adenocarcinoma, recurrent"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7002"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adenocarcinoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_7003 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7003"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant vaginal mixed tumor resembling synovial sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7004 obo:IAO_0000115 "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:12867"^^xsd:string, "MESH:D049913"^^xsd:string, "NCI:C7462"^^xsd:string, "OMIM:219090"^^xsd:string, "SNOMEDCT_US_2021_03_01:254958004"^^xsd:string, "UMLS_CUI:C1306214"^^xsd:string ; oboInOwl:hasExactSynonym "ACTH-Producing Pituitary Adenoma"@en, "Corticotroph adenoma"@en, "Corticotropinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7004"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ACTH-secreting pituitary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5395, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0002309 ] ; skos:exactMatch "MESH:D049913"^^xsd:string . obo:DOID_7005 oboInOwl:hasDbXref "MESH:D001254"^^xsd:string, "NCI:C4321"^^xsd:string, "SNOMEDCT_US_2021_03_01:73982001"^^xsd:string, "UMLS_CUI:C0334581"^^xsd:string ; oboInOwl:hasExactSynonym "Gemistocytic Astrocytic tumor"@en, "Gemistocytic astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7005"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gemistocytic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_7006 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7006"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood cerebral diffuse astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_7007 oboInOwl:hasDbXref "MESH:D001254"^^xsd:string, "NCI:C4347"^^xsd:string, "UMLS_CUI:C0338070"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric astrocytoma of Cerebrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7007"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood cerebral astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_368, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7008 oboInOwl:hasDbXref "MESH:D001254"^^xsd:string, "NCI:C4320"^^xsd:string, "SNOMEDCT_US_2021_03_01:55094006"^^xsd:string, "UMLS_CUI:C0334580"^^xsd:string ; oboInOwl:hasExactSynonym "Protoplasmic Astrocytic tumor"@en, "Protoplasmic astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7008"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "protoplasmic astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_7009 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7009"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult diffuse astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_701 obo:IAO_0000115 "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "MESH:D003805"^^xsd:string, "OMIM:125400"^^xsd:string, "OMIM:125420"^^xsd:string, "ORDO:1635"^^xsd:string, "SNOMEDCT_US_2021_03_01:109492001"^^xsd:string, "UMLS_CUI:C0011430"^^xsd:string ; oboInOwl:hasExactSynonym "Dentinal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:701"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "dentin dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_7011 oboInOwl:hasExactSynonym "relapsed cancer of the Thyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7011"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent thyroid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7012 oboInOwl:hasExactSynonym "anaplastic thyroid carcinoma (disorder)"@en, "sarcomatoid Thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7012"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic thyroid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7013 obo:IAO_0000115 "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40041"^^xsd:string, "UMLS_CUI:C1518725"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian mucinous cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_6469 . obo:DOID_7014 oboInOwl:hasDbXref "NCI:C7450"^^xsd:string, "SNOMEDCT_US_2021_03_01:24045002"^^xsd:string, "UMLS_CUI:C0334473"^^xsd:string ; oboInOwl:hasExactSynonym "Intramuscular Lipoma"@en, "Intramuscular lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7014"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_7015 oboInOwl:hasExactSynonym "Deep Fatty tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete deep fatty neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_7016 obo:IAO_0000115 "A synovium neoplasm that is located_in the tendon sheath."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6499"^^xsd:string, "UMLS_CUI:C1336703"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Tendon Sheath"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tendon sheath lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_315, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000304 ] . obo:DOID_7017 oboInOwl:hasDbXref "NCI:C6500"^^xsd:string, "UMLS_CUI:C1334438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7017"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lumbosacral lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_7018 oboInOwl:hasExactSynonym "metastatic tumor to the adult brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the adult brain"^^xsd:string ; owl:deprecated true . obo:DOID_702 oboInOwl:hasExactSynonym "Congenital anomaly of teeth (disorder)"@en, "congenital dentition disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tooth abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_7023 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7023"^^xsd:string ; a owl:Class ; rdfs:label "obsolete borderline ovarian serous neoplasm with microinvasion"^^xsd:string ; owl:deprecated true . obo:DOID_7024 oboInOwl:hasDbXref "NCI:C41618"^^xsd:string, "UMLS_CUI:C1513718"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous intrahepatic cholangiocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4928 . obo:DOID_7025 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7025"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic malignant intracranial meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_7026 oboInOwl:hasExactSynonym "WHO grade III meningioma"@en, "adult anaplastic (malignant) meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7026"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult malignant meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_7029 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7029"^^xsd:string ; a owl:Class ; rdfs:label "obsolete site specific early onset breast cancer syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_7030 oboInOwl:hasDbXref "NCI:C5664"^^xsd:string, "SNOMEDCT_US_2021_03_01:838297005"^^xsd:string, "UMLS_CUI:C1332640"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the Bronchial Mucus gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of bronchial mucus gland"@en ; oboInOwl:id "DOID:7030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchial mucus gland adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5391 . obo:DOID_7031 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the glottis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8186"^^xsd:string, "UMLS_CUI:C0280325"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Glottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "squamous cell carcinoma of glottis"@en ; oboInOwl:id "DOID:7031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glottis squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2599, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_7032 obo:IAO_0000115 "A clear cell adenocarcinoma that is located_in the bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5775"^^xsd:string, "UMLS_CUI:C0861855"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct clear cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7032"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bile duct clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4896 . obo:DOID_7033 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung."^^xsd:string ; oboInOwl:hasDbXref "GARD:693"^^xsd:string, "ICD10CM:B81.0"^^xsd:string, "ICD9CM:127.1"^^xsd:string, "MESH:D017129"^^xsd:string, "NCI:C128393"^^xsd:string, "SNOMEDCT_US_2021_03_01:442652006"^^xsd:string, "UMLS_CUI:C0162576"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Anisakis larva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7033"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anisakiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6269 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6271 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; skos:exactMatch "MESH:D017129"^^xsd:string . obo:DOID_7037 obo:IAO_0000115 "An immature teratoma of overy that presents in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6547"^^xsd:string, "UMLS_CUI:C1332990"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Immature teratoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7037"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood immature teratoma of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_6331, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7039 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:403886007"^^xsd:string, "UMLS_CUI:C0334260"^^xsd:string ; oboInOwl:hasExactSynonym "Bowen's disease, clonal"@en, "Intraepidermal Epithelioma of Jadassohn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7039"^^xsd:string ; a owl:Class ; rdfs:label "Borst-Jadassohn intraepidermal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3451 . obo:DOID_7040 oboInOwl:hasDbXref "NCI:C35780"^^xsd:string, "UMLS_CUI:C1333422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7040"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uveal epithelioid cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4360, obo:DOID_6039, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] . obo:DOID_7041 oboInOwl:hasDbXref "NCI:C6102"^^xsd:string, "UMLS_CUI:C1333024"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal epithelioid cell melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7041"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid epithelioid cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4360, obo:DOID_6438, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002150 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] . obo:DOID_7042 oboInOwl:hasDbXref "NCI:C6119"^^xsd:string, "UMLS_CUI:C1333050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ciliary body epithelioid cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4352, obo:DOID_7040, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001775 ] . obo:DOID_7043 oboInOwl:hasExactSynonym "metastatic Vulvar carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7043"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic vulvar cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7045 oboInOwl:hasDbXref "NCI:C7266"^^xsd:string, "UMLS_CUI:C1332463"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7045"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basaloid lung carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3907 . obo:DOID_7046 obo:IAO_0000115 "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40189"^^xsd:string, "UMLS_CUI:C1511063"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7046"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical basaloid squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_7047 oboInOwl:hasDbXref "NCI:C6980"^^xsd:string, "UMLS_CUI:C1332462"^^xsd:string ; oboInOwl:hasExactSynonym "squamous cell carcinoma of penis, Basaloid type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7047"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis basaloid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5518 . obo:DOID_7048 obo:IAO_0000115 "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40286"^^xsd:string ; oboInOwl:hasExactSynonym "vulvar basaloid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7048"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar basaloid squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2101 . obo:DOID_7049 oboInOwl:hasDbXref "NCI:C27543"^^xsd:string, "UMLS_CUI:C1335973"^^xsd:string ; oboInOwl:hasExactSynonym "skin Basaloid squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "basaloid squamous cell skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4159, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_705 oboInOwl:hasDbXref "GARD:6870"^^xsd:string, "ICD10CM:H47.22"^^xsd:string, "MESH:D029242"^^xsd:string, "NCI:C84808"^^xsd:string, "OMIM:535000"^^xsd:string, "SNOMEDCT_US_2021_03_01:194045006"^^xsd:string, "UMLS_CUI:C0917796"^^xsd:string ; oboInOwl:hasExactSynonym "Leber's hereditary optic neuropathy"@en, "Leber's optic atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:705"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Leber hereditary optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_7050 oboInOwl:hasDbXref "NCI:C6456"^^xsd:string, "UMLS_CUI:C1332464"^^xsd:string ; oboInOwl:hasExactSynonym "Basaloid carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7050"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus basaloid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3277, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_7051 oboInOwl:hasDbXref "NCI:C7032"^^xsd:string, "UMLS_CUI:C1333443"^^xsd:string ; oboInOwl:hasExactSynonym "Basaloid squamous carcinoma of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7051"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal basaloid squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_5041, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_7053 oboInOwl:hasExactSynonym "Undifferentiated small cell carcinoma of the Thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic small cell thyroid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7054 oboInOwl:hasDbXref "NCI:C5279"^^xsd:string, "UMLS_CUI:C1334829"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple skull base meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4437 . obo:DOID_706 oboInOwl:hasDbXref "EFO:0000096"^^xsd:string, "NCI:C27910"^^xsd:string, "UMLS_CUI:C1334633"^^xsd:string ; oboInOwl:hasExactSynonym "mature B-cell lymphocytic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:706"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mature B-cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_7061 obo:IAO_0000115 "A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7061"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsolete precursor B lymphoblastic lymphoma/leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_707 obo:IAO_0000115 "A non-Hodgkin lymphoma that has_material_basis_in B cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:5877"^^xsd:string, "MESH:D016393"^^xsd:string, "NCI:C3457"^^xsd:string, "SNOMEDCT_US_2021_03_01:109979007"^^xsd:string, "UMLS_CUI:C0079731"^^xsd:string ; oboInOwl:hasExactSynonym "B-cell lymphocytic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:707"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "B-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060060 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060058 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000236 ] ) ] . obo:DOID_7070 oboInOwl:hasExactSynonym "relapsed pediatric Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7070"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric rhabdomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7071 obo:IAO_0000115 "A dermoid cyst that is located_in the spinal cord."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6808"^^xsd:string, "SNOMEDCT_US_2021_03_01:830015009"^^xsd:string, "UMLS_CUI:C1333278"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal Cord Dermoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7071"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal cord dermoid cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_2658, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_7074 oboInOwl:hasExactSynonym "Choroidal hemorrhage and rupture (disorder)"@en, "Choroidal hemorrhage or rupture NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7074"^^xsd:string ; a owl:Class ; rdfs:label "obsolete choroidal hemorrhage and rupture"^^xsd:string ; owl:deprecated true . obo:DOID_7075 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete atypical vulvar nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7076 obo:IAO_0000115 "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40365"^^xsd:string, "UMLS_CUI:C1517894"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipid-rich breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5658 . obo:DOID_7077 oboInOwl:hasDbXref "NCI:C6630"^^xsd:string, "UMLS_CUI:C1334600"^^xsd:string ; oboInOwl:hasExactSynonym "mediastinal melanocytic MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7077"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant melanocytic peripheral nerve sheath tumor of mediastinum"^^xsd:string ; rdfs:subClassOf obo:DOID_1192, obo:DOID_5559, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_7078 oboInOwl:hasExactSynonym "MPNST of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7078"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant mediastinal peripheral nerve sheath tumor"^^xsd:string ; owl:deprecated true . obo:DOID_7079 obo:IAO_0000115 "A cystic teratoma that is present in an adult."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9012"^^xsd:string, "SNOMEDCT_US_2021_03_01:42717009"^^xsd:string, "UMLS_CUI:C1368888"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7079"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult cystic teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2660, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7081 oboInOwl:hasAlternativeId "DOID:7080"^^xsd:string ; oboInOwl:hasDbXref "NCI:C9423"^^xsd:string, "UMLS_CUI:C1334788"^^xsd:string ; oboInOwl:hasExactSynonym "combined small and large cell lung cancer"@en, "small cell and large cell carcinoma of the lung"@en, "small cell and squamous cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mixed small cell and squamous cell carcinoma of lung"@en ; oboInOwl:id "DOID:7081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung mixed small cell and squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5410 . obo:DOID_7083 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7083"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adult primary hepatoma"^^xsd:string ; owl:deprecated true . obo:DOID_7084 oboInOwl:hasExactSynonym "relapsed adult Liver cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7084"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adult primary liver cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7086 oboInOwl:hasDbXref "NCI:C37304"^^xsd:string, "UMLS_CUI:C1334817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7086"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multicentric papillary thyroid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3969 . obo:DOID_7088 oboInOwl:hasDbXref "NCI:C35830"^^xsd:string, "UMLS_CUI:C1333120"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7088"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "columnar cell variant papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3969 . obo:DOID_7089 oboInOwl:hasDbXref "NCI:C35558"^^xsd:string, "UMLS_CUI:C1336695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7089"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tall cell variant papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3969 . obo:DOID_709 oboInOwl:hasAlternativeId "DOID:10265"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:202.47"^^xsd:string, "NCI:C7301"^^xsd:string, "SNOMEDCT_US_2021_03_01:93151007"^^xsd:string, "UMLS_CUI:C0153832"^^xsd:string, "UMLS_CUI:C1336064"^^xsd:string ; oboInOwl:hasExactSynonym "hairy cell leukaemia of spleen"@en, "hairy cell leukemia of spleen"@en, "splenic manifestation of hairy cell leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:709"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "splenic manifestation of hairy cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_710 . obo:DOID_7095 oboInOwl:hasDbXref "NCI:C8095"^^xsd:string, "UMLS_CUI:C0279989"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric epithelioid sarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7095"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6193, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7097 oboInOwl:hasDbXref "NCI:C39924"^^xsd:string, "UMLS_CUI:C1515307"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7097"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macrocystic pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_7099 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7099"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_710 obo:IAO_0000115 "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7296"^^xsd:string, "UMLS_CUI:C1336065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "splenic leukemia"@en ; oboInOwl:id "DOID:710"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "splenic manifestation of leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_672 . obo:DOID_7103 oboInOwl:hasDbXref "NCI:C5283"^^xsd:string, "UMLS_CUI:C1333283"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of Diaphragm Sellae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7103"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diaphragma sellae meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3643, obo:DOID_4437 . obo:DOID_7105 oboInOwl:hasDbXref "NCI:C4933"^^xsd:string, "SNOMEDCT_US_2021_03_01:126699008"^^xsd:string, "UMLS_CUI:C1290353"^^xsd:string ; oboInOwl:hasExactSynonym "Epiglottic tumor"@en, "neoplasm of epiglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7105"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epiglottis neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_8002 . obo:DOID_711 obo:IAO_0000115 "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C91.42"^^xsd:string, "NCI:C142882"^^xsd:string, "UMLS_CUI:C0279780"^^xsd:string ; oboInOwl:hasExactSynonym "Refractory Hairy cell Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:711"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "refractory hairy cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_285, obo:DOID_712 . obo:DOID_712 obo:IAO_0000115 "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27357"^^xsd:string, "UMLS_CUI:C1335724"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:712"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "refractory hematologic cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2531 . obo:DOID_7127 oboInOwl:hasDbXref "ICD10CM:N30.4"^^xsd:string, "ICD9CM:595.82"^^xsd:string, "NCI:C123174"^^xsd:string, "SNOMEDCT_US_2021_03_01:11251000"^^xsd:string, "UMLS_CUI:C0156270"^^xsd:string ; oboInOwl:hasExactSynonym "Irradiation cystitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "radiation cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_713 oboInOwl:hasDbXref "NCI:C7401"^^xsd:string, "SNOMEDCT_US_2021_03_01:54087003"^^xsd:string, "UMLS_CUI:C0349633"^^xsd:string ; oboInOwl:hasExactSynonym "Hairy cell leukaemia variant"@en, "Hairy cell leukemia variant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "HCL-V"^^xsd:string ; rdfs:subClassOf obo:DOID_285 . obo:DOID_7132 oboInOwl:hasDbXref "NCI:C9461"^^xsd:string, "SNOMEDCT_US_2021_03_01:718604008"^^xsd:string, "UMLS_CUI:C1332564"^^xsd:string ; oboInOwl:hasExactSynonym "small cell/neuroendocrine carcinoma of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "small cell neuroendocrine carcinoma of the urinary bladder"@en ; oboInOwl:id "DOID:7132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary bladder small cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4007 . obo:DOID_7133 oboInOwl:hasDbXref "NCI:C6763"^^xsd:string, "UMLS_CUI:C1333759"^^xsd:string ; oboInOwl:hasExactSynonym "Oat cell carcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7133"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4948, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_7134 oboInOwl:hasDbXref "NCI:C6762"^^xsd:string, "UMLS_CUI:C1112474"^^xsd:string ; oboInOwl:hasExactSynonym "Oat cell carcinoma of esophagus"@en, "Oat cell carcinoma of oesophagus"@en, "oesophagus small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1107 . obo:DOID_7136 oboInOwl:hasDbXref "NCI:C6655"^^xsd:string, "UMLS_CUI:C1332250"^^xsd:string ; oboInOwl:hasExactSynonym "ampullary small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7136"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4932 . obo:DOID_7138 obo:IAO_0000115 "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:595.81"^^xsd:string, "NCI:C96230"^^xsd:string, "SNOMEDCT_US_2021_03_01:13285005"^^xsd:string, "UMLS_CUI:C0152262"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystitis cystica"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_7139 obo:IAO_0000115 "An small cell carcinoma that has_material_basis in small cells and located_in the endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40155"^^xsd:string, "UMLS_CUI:C1516858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1380, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001295 ] . obo:DOID_7140 obo:IAO_0000115 "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40298"^^xsd:string, "UMLS_CUI:C1511051"^^xsd:string ; oboInOwl:hasNarrowSynonym "Bartholin gland small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's gland small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3999 . obo:DOID_7141 oboInOwl:hasDbXref "NCI:C6766"^^xsd:string, "SNOMEDCT_US_2021_03_01:396198006"^^xsd:string, "UMLS_CUI:C1300585"^^xsd:string ; oboInOwl:hasExactSynonym "prostate Oat cell carcinoma"@en, "small cell carcinoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7141"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_7142 oboInOwl:hasDbXref "NCI:C6460"^^xsd:string, "UMLS_CUI:C1335980"^^xsd:string ; oboInOwl:hasExactSynonym "small cell carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7142"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3284, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_7144 oboInOwl:hasDbXref "NCI:C6025"^^xsd:string, "UMLS_CUI:C1334378"^^xsd:string ; oboInOwl:hasExactSynonym "small cell carcinoma of Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7144"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2596, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] . obo:DOID_7145 oboInOwl:hasExactSynonym "Papillary cystic neoplasm"@en, "Papillary cystic tumour"@en, "solid pseudopapillary tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papillary cystic tumor"^^xsd:string ; owl:deprecated true . obo:DOID_7146 obo:IAO_0000115 "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C96.4"^^xsd:string, "MESH:D054752"^^xsd:string, "NCI:C6921"^^xsd:string, "SNOMEDCT_US_2021_03_01:724649000"^^xsd:string, "UMLS_CUI:C1260327"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7146"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Langerhans cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5621, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000453 ] ; skos:exactMatch "MESH:D054752"^^xsd:string . obo:DOID_7147 obo:IAO_0000115 "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003898"^^xsd:string, "GARD:9518"^^xsd:string, "ICD10CM:M45"^^xsd:string, "ICD9CM:720.0"^^xsd:string, "MESH:D013167"^^xsd:string, "NCI:C84564"^^xsd:string, "OMIM:PS106300"^^xsd:string, "ORDO:825"^^xsd:string, "SNOMEDCT_US_2021_03_01:156619005"^^xsd:string, "UMLS_CUI:C0038013"^^xsd:string ; oboInOwl:hasExactSynonym "Bekhterev syndrome"@en, "Bekhterev's disease"@en, "Marie-Strumpell disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7147"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "ankylosing spondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_0060564, obo:DOID_3342, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_7148 obo:IAO_0000115 "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000685"^^xsd:string, "ICD10CM:M06.9"^^xsd:string, "ICD9CM:714.0"^^xsd:string, "KEGG:05323"^^xsd:string, "MESH:D001172"^^xsd:string, "NCI:C2884"^^xsd:string, "OMIM:180300"^^xsd:string, "SNOMEDCT_US_2021_03_01:156471009"^^xsd:string, "UMLS_CUI:C0003873"^^xsd:string ; oboInOwl:hasExactSynonym "Arthritis or polyarthritis, rheumatic"@en, "atrophic Arthritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "rheumatoid arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000982 ] . obo:DOID_7149 oboInOwl:hasExactSynonym "metastatic Parathyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7149"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic parathyroid cancer"^^xsd:string ; owl:deprecated true . obo:DOID_715 oboInOwl:hasDbXref "ICDO:9729/3"^^xsd:string, "ICDO:9837/3"^^xsd:string, "MESH:D015458"^^xsd:string, "UMLS_CUI:C0023492"^^xsd:string ; oboInOwl:hasExactSynonym "T-cell leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:715"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "T-cell lymphoblastic leukemia/lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5603 . obo:DOID_7150 oboInOwl:hasExactSynonym "recurrent Parathyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent parathyroid cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7152 obo:IAO_0000115 "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5524"^^xsd:string, "UMLS_CUI:C1335521"^^xsd:string ; oboInOwl:hasExactSynonym "Stromal sarcoma of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7152"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate stromal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4054 . obo:DOID_7154 obo:IAO_0000115 "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4326"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7154"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181 . obo:DOID_7155 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7155"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult undifferentiated oligodendroglioma"^^xsd:string ; owl:deprecated true . obo:DOID_7156 oboInOwl:hasExactSynonym "Undifferentiated pediatric Oligodendroglioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7156"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic childhood oligodendroglioma"^^xsd:string ; owl:deprecated true . obo:DOID_7157 oboInOwl:hasExactSynonym "squamous cell carcinoma metastatic to the neck with Occult primary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic squamous neck cancer with occult primary"^^xsd:string ; owl:deprecated true . obo:DOID_7158 oboInOwl:hasExactSynonym "relapsed metastatic Epidermoid carcinoma to the neck with Occult primary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7158"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent metastatic squamous cell cancer to the neck with occult primary"^^xsd:string ; owl:deprecated true . obo:DOID_716 obo:IAO_0000115 "A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis."^^xsd:string ; oboInOwl:hasExactSynonym "HTLV-II infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:716"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Human T-lymphotropic virus 2 infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_7160 oboInOwl:hasDbXref "NCI:C5552"^^xsd:string, "UMLS_CUI:C1335682"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7160"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050915, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_7162 oboInOwl:hasExactSynonym "relapsed carcinoma of the Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7162"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent larynx cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7164 oboInOwl:hasExactSynonym "Mature teratoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7164"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mediastinum mature teratoma"^^xsd:string ; owl:deprecated true . obo:DOID_7165 oboInOwl:hasDbXref "ICD10CM:E06.1"^^xsd:string, "ICD9CM:245.1"^^xsd:string, "MESH:D013968"^^xsd:string, "NCI:C35071"^^xsd:string, "SNOMEDCT_US_2021_03_01:154666006"^^xsd:string, "UMLS_CUI:C0040149"^^xsd:string ; oboInOwl:hasExactSynonym "De Quervain's thyroiditis"@en, "Giant-cell thyroiditis"@en, "Granulomatous thyroiditis"@en, "Subacute Granulomatous Thyroiditis"@en, "Subacute Thyroiditis"@en, "Subacute thyroiditis"@en, "de Quervain's thyroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subacute thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_7166 . obo:DOID_7166 oboInOwl:hasDbXref "ICD10CM:E06"^^xsd:string, "ICD9CM:245"^^xsd:string, "MESH:D013966"^^xsd:string, "NCI:C26894"^^xsd:string, "SNOMEDCT_US_2021_03_01:154664009"^^xsd:string, "UMLS_CUI:C0040147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating to more specific UMLS_CUI from C0029495 to C0040147."^^xsd:string ; rdfs:label "thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_7168 oboInOwl:hasDbXref "NCI:C6699"^^xsd:string, "UMLS_CUI:C1335096"^^xsd:string ; oboInOwl:hasExactSynonym "Occult adenocarcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "occult adenocarcinoma of lung"@en ; oboInOwl:id "DOID:7168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung occult adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_7169 oboInOwl:hasDbXref "NCI:C6685"^^xsd:string, "UMLS_CUI:C1335095"^^xsd:string ; oboInOwl:hasExactSynonym "Occult large cell carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung occult large cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_7170 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7170"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent non-cutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_7171 oboInOwl:hasExactSynonym "recurrent malignant melanoma"@en, "recurrent melanoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7171"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_7173 oboInOwl:hasDbXref "NCI:C8255"^^xsd:string, "SNOMEDCT_US_2021_03_01:84570003"^^xsd:string, "UMLS_CUI:C0334273"^^xsd:string ; oboInOwl:hasExactSynonym "Cloacogenic anal carcinoma"@en, "Cloacogenic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7173"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cloacogenic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5525 . obo:DOID_7174 oboInOwl:hasDbXref "NCI:C8256"^^xsd:string, "UMLS_CUI:C0280470"^^xsd:string ; oboInOwl:hasExactSynonym "anal Basaloid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "basaloid carcinoma of the anus"@en ; oboInOwl:id "DOID:7174"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anus basaloid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5525 . obo:DOID_7175 oboInOwl:hasDbXref "NCI:C7470"^^xsd:string, "UMLS_CUI:C1332278"^^xsd:string ; oboInOwl:hasExactSynonym "anal Giant (malignant) Condyloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal Buschke-Lowenstein tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5525 . obo:DOID_7177 obo:IAO_0000115 "An anal canal cancer that derives_from epithelial squamous cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7469"^^xsd:string, "UMLS_CUI:C1332262"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7177"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal canal squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050688, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000159 ] . obo:DOID_7179 oboInOwl:hasDbXref "NCI:C4148"^^xsd:string, "SNOMEDCT_US_2021_03_01:48619006"^^xsd:string, "UMLS_CUI:C0334312"^^xsd:string ; oboInOwl:hasExactSynonym "mixed acidophil-basophil adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7179"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed eosinophil-basophil adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_718 obo:IAO_0000115 "An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies."^^xsd:string ; oboInOwl:hasDbXref "GARD:5870"^^xsd:string, "ICD9CM:283.0"^^xsd:string, "MESH:D000744"^^xsd:string, "NCI:C34378"^^xsd:string, "OMIM:205700"^^xsd:string, "SNOMEDCT_US_2021_03_01:25121006"^^xsd:string, "UMLS_CUI:C0002880"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune haemolytic anaemia"@en, "Autoimmune hemolytic anaemia"@en, "Autoimmune hemolytic anemia"@en, "autoimmune hemolytic anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:718"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autoimmune hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060050 . obo:DOID_7181 oboInOwl:hasDbXref "NCI:C5569"^^xsd:string, "UMLS_CUI:C1332490"^^xsd:string ; oboInOwl:hasExactSynonym "benign Schwannoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7181"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign dermal neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165 . obo:DOID_7186 oboInOwl:hasExactSynonym "metastatic pediatric sarcoma of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7186"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic childhood sarcoma of soft tissue"^^xsd:string ; owl:deprecated true . obo:DOID_7187 oboInOwl:hasDbXref "NCI:C35829"^^xsd:string, "SNOMEDCT_US_2021_03_01:361126006"^^xsd:string, "UMLS_CUI:C1306804"^^xsd:string ; oboInOwl:hasExactSynonym "Subacute lymphocytic thyroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7187"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subacute lymphocytic thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_7166 . obo:DOID_7188 obo:IAO_0000115 "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050435"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E06.3"^^xsd:string, "MESH:D013967"^^xsd:string, "NCI:C38766"^^xsd:string, "SNOMEDCT_US_2021_03_01:190297000"^^xsd:string, "UMLS_CUI:C0920350"^^xsd:string ; oboInOwl:hasExactSynonym "Chronic Lymphocytic Thyroiditis"@en, "Hashimoto thyroiditis"@en, "Hashimoto's Disease"@en, "Hashimoto's syndrome"@en, "Hashimoto's thyroiditis"@en, "Lymphocytic Thyroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7188"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autoimmune thyroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_7191 obo:IAO_0000115 "An ovarian cystadenoma that is characterized by the presence of endometrial tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40075"^^xsd:string, "UMLS_CUI:C1518713"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7191"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrioid cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3269 . obo:DOID_7192 oboInOwl:hasDbXref "NCI:C36260"^^xsd:string, "SNOMEDCT_US_2021_03_01:764961009"^^xsd:string, "UMLS_CUI:C1333985"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary conventional renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4455 . obo:DOID_7198 oboInOwl:hasDbXref "NCI:C6239"^^xsd:string, "UMLS_CUI:C1334643"^^xsd:string ; oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the maxillary sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of maxillary sinus"@en ; oboInOwl:id "DOID:7198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1357 . obo:DOID_720 oboInOwl:hasDbXref "NCI:C35142"^^xsd:string, "SNOMEDCT_US_2021_03_01:300980002"^^xsd:string, "UMLS_CUI:C0085577"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA NORMOCYTIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:720"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "normocytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_7202 obo:IAO_0000115 "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4288"^^xsd:string, "SNOMEDCT_US_2021_03_01:21912003"^^xsd:string, "UMLS_CUI:C0334522"^^xsd:string ; oboInOwl:hasExactSynonym "Intermediate Immature teratoma"@en, "malignant teratoma, intermediate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate malignant teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5563 . obo:DOID_7206 oboInOwl:hasDbXref "NCI:C9499"^^xsd:string, "UMLS_CUI:C1334691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1909 . obo:DOID_7207 oboInOwl:hasDbXref "NCI:C7267"^^xsd:string, "UMLS_CUI:C1333122"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary Combined large cell neuroendocrine carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "combined large cell neuroendocrine carcinoma of lung"@en ; oboInOwl:id "DOID:7207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung combined large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6658 . obo:DOID_7210 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4331"^^xsd:string, "SNOMEDCT_US_2021_03_01:38431002"^^xsd:string, "UMLS_CUI:C0334607"^^xsd:string ; oboInOwl:hasExactSynonym "Psammomatous meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "psammomatous meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7211 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4330"^^xsd:string, "SNOMEDCT_US_2021_03_01:511008"^^xsd:string, "UMLS_CUI:C0334606"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroblastic meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrous meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7212 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4329"^^xsd:string, "SNOMEDCT_US_2021_03_01:68944005"^^xsd:string, "UMLS_CUI:C0334605"^^xsd:string ; oboInOwl:hasExactSynonym "Meningotheliomatous meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7212"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningothelial meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7213 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4333"^^xsd:string, "SNOMEDCT_US_2021_03_01:64967004"^^xsd:string, "UMLS_CUI:C0334611"^^xsd:string ; oboInOwl:hasExactSynonym "transitional (mixed) meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transitional meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7214 oboInOwl:hasDbXref "NCI:C9080"^^xsd:string, "UMLS_CUI:C0278847"^^xsd:string ; oboInOwl:hasExactSynonym "Thymoma malignant Noninvasive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7214"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "noninvasive malignant thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3275 . obo:DOID_7215 oboInOwl:hasExactSynonym "relapsed pediatric Ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete relapsed childhood ependymoma"^^xsd:string ; owl:deprecated true . obo:DOID_722 oboInOwl:hasExactSynonym "miscarriage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:722"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spontaneous abortion"^^xsd:string ; owl:deprecated true . obo:DOID_7221 obo:IAO_0000115 "A papillary carcioma that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5743"^^xsd:string, "UMLS_CUI:C5399921"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary carcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7221"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_7222 oboInOwl:hasExactSynonym "Pleomorphic Giant cell adenocarcinoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7222"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder pleomorphic giant cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3500 . obo:DOID_7223 obo:IAO_0000115 "A breast fibroadenoma that is larger than 5 cm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4273"^^xsd:string, "SNOMEDCT_US_2021_03_01:254846003"^^xsd:string, "UMLS_CUI:C0346157"^^xsd:string ; oboInOwl:hasExactSynonym "Giant Fibroadenoma"@en, "Giant fibroadenoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast giant fibroadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1618 . obo:DOID_7224 oboInOwl:hasDbXref "ICD10CM:C70.1"^^xsd:string, "ICD9CM:192.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:94069006"^^xsd:string, "UMLS_CUI:C0153647"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of spinal meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7224"^^xsd:string ; a owl:Class ; rdfs:label "spinal meninges cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003292 ] ) ] . obo:DOID_7230 oboInOwl:hasDbXref "NCI:C37201"^^xsd:string, "UMLS_CUI:C1333037"^^xsd:string ; oboInOwl:hasExactSynonym "CLL/SLL with IGVH SHM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6354 . obo:DOID_7231 obo:IAO_0000115 "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6208"^^xsd:string, "UMLS_CUI:C1377605"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal carcinoma of paediatric CNS"@en, "Embryonal carcinoma of pediatric CNS"@en, "paediatric CNS embryonal cell carcinoma"@en, "pediatric CNS embryonal cell carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7231"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood CNS embryonal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_6052, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_7232 oboInOwl:hasDbXref "NCI:C7010"^^xsd:string, "UMLS_CUI:C1333377"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal carcinoma of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "embryonal carcinoma of the central nervous system"@en ; oboInOwl:id "DOID:7232"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3308, obo:DOID_4439, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000586 ] . obo:DOID_7233 obo:IAO_0000115 "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5790"^^xsd:string, "UMLS_CUI:C1370503"^^xsd:string ; oboInOwl:hasExactSynonym "Embryonal carcinoma of the adult central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7233"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5349, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7234 obo:IAO_0000115 "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5713"^^xsd:string, "SNOMEDCT_US_2019_09_01:785879009"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous Cystadencarcinoma of pancreas"@en, "pancreatic colloid cystadenocarcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7234"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucinous cystadenocarcinoma of the pancreas"^^xsd:string ; rdfs:subClassOf obo:DOID_4073, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_7235 oboInOwl:hasDbXref "NCI:C41247"^^xsd:string, "UMLS_CUI:C1518872"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic mucinous cystic neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic mucinous cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3918 . obo:DOID_7236 oboInOwl:hasDbXref "NCI:C41246"^^xsd:string, "UMLS_CUI:C1518870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7236"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic invasive mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7234 . obo:DOID_7237 oboInOwl:hasDbXref "NCI:C41245"^^xsd:string, "SNOMEDCT_US_2021_03_01:128900005"^^xsd:string, "UMLS_CUI:C1266078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7237"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic non-invasive mucinous cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7234 . obo:DOID_7238 obo:IAO_0000115 "An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach."^^xsd:string ; oboInOwl:hasExactSynonym "AIDS-Related Kaposi's sarcoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related gastric Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_724 oboInOwl:hasDbXref "ICD9CM:625.6"^^xsd:string, "NCI:C35042"^^xsd:string, "SNOMEDCT_US_2021_03_01:60241006"^^xsd:string, "UMLS_CUI:C0038437"^^xsd:string ; oboInOwl:hasExactSynonym "Stress incontinence - female"@en, "female urinary stress incontinence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:724"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "female stress incontinence"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_7241 obo:IAO_0000115 "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40165"^^xsd:string, "UMLS_CUI:C1519852"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus apoplectic leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7242, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_7242 obo:IAO_0000115 "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40163"^^xsd:string, "UMLS_CUI:C1519845"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7242"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus cellular leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] . obo:DOID_7244 oboInOwl:hasDbXref "NCI:C39844"^^xsd:string, "UMLS_CUI:C1511207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7244"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urachal urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5958 . obo:DOID_7245 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic endometrial adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7246 oboInOwl:hasDbXref "NCI:C39885"^^xsd:string, "UMLS_CUI:C1515864"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoepithelioma-like variant acinar prostate adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7246"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoepithelioma-like acinar prostate adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2526 . obo:DOID_7252 oboInOwl:hasExactSynonym "malignant neoplasm of cerebral meninges (disorder)"@en, "malignant neoplasm of cerebral meninges NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral meninges malignant neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_7256 oboInOwl:hasExactSynonym "Undifferentiated carcinoma of the urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic urethra carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7262 oboInOwl:hasExactSynonym "Undifferentiated gallbladder carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7262"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gallbladder anaplastic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7263 obo:IAO_0000115 "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27144"^^xsd:string, "SNOMEDCT_US_2021_03_01:234541006"^^xsd:string, "UMLS_CUI:C0398695"^^xsd:string ; oboInOwl:hasExactSynonym "Selective IgD Immunodeficiency"@en, "Selective immunoglobulin D deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7263"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "selective IgD deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_6025 . obo:DOID_7266 oboInOwl:hasDbXref "NCI:C40455"^^xsd:string, "UMLS_CUI:C1512418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7266"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familiar fallopian tube carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1963 . obo:DOID_7267 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:254630009"^^xsd:string, "UMLS_CUI:C0345959"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7267"^^xsd:string ; a owl:Class ; rdfs:label "lung clear cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_7268 oboInOwl:hasExactSynonym "pulmonary solid adenocarcinoma with Mucin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete solid carcinoma of lung with mucus formation"^^xsd:string ; owl:deprecated true . obo:DOID_7269 oboInOwl:hasDbXref "NCI:C40957"^^xsd:string, "UMLS_CUI:C1515292"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7269"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cribriform variant testicular seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5842 . obo:DOID_727 oboInOwl:hasDbXref "ICD10CM:N94.3"^^xsd:string, "ICD9CM:625.4"^^xsd:string, "MESH:D011293"^^xsd:string, "SNOMEDCT_US_2021_03_01:123076003"^^xsd:string, "UMLS_CUI:C0376356"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:727"^^xsd:string ; a owl:Class ; rdfs:label "premenstrual tension"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_7273 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7273"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete adrenal gland tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_728 obo:IAO_0000115 "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.12"^^xsd:string, "ICD9CM:379.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:70558001"^^xsd:string, "UMLS_CUI:C0155352"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:728"^^xsd:string ; a owl:Class ; rdfs:label "nodular episcleritis"^^xsd:string ; rdfs:subClassOf obo:DOID_11343, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_7280 oboInOwl:hasDbXref "MESH:D005887"^^xsd:string, "NCI:C4675"^^xsd:string, "SNOMEDCT_US_2021_03_01:25511009"^^xsd:string, "UMLS_CUI:C0376319"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Epulides"@en, "Congenital Epulis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital epulis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_5337, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_7281 obo:IAO_0000115 "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7281"^^xsd:string ; a owl:Class ; rdfs:label "uterine corpus adenocarcinofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4114 . obo:DOID_7284 oboInOwl:hasAlternativeId "DOID:6722"^^xsd:string ; oboInOwl:hasDbXref "NCI:C39863"^^xsd:string, "NCI:C7371"^^xsd:string, "UMLS_CUI:C1335352"^^xsd:string, "UMLS_CUI:C1527427"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of the paraurethral gland"@en, "paraurethral gland carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7284"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Skene gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14059, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010145 ] . obo:DOID_7289 obo:IAO_0000115 "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27839"^^xsd:string, "SNOMEDCT_US_2021_03_01:128680006"^^xsd:string, "UMLS_CUI:C1266057"^^xsd:string ; oboInOwl:hasExactSynonym "secretory uterine corpus endometrioid adenocarcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial endometrioid adenocarcinoma, secretory variant"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_7293 obo:IAO_0000115 "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8717"^^xsd:string, "UMLS_CUI:C1513711"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7293"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucin-rich endometrial endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_7295 oboInOwl:hasExactSynonym "relapsed pediatric sarcoma of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood soft tissue sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7296 oboInOwl:hasExactSynonym "Non-metastatic pediatric soft tissue sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonmetastatic childhood soft tissue sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7297 oboInOwl:hasDbXref "NCI:C27376"^^xsd:string, "UMLS_CUI:C1332968"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric extraskeletal Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7297"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood extraosseous osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3357, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_730 oboInOwl:hasDbXref "MESH:D014523"^^xsd:string, "NCI:C3428"^^xsd:string, "SNOMEDCT_US_2021_03_01:126883004"^^xsd:string, "UMLS_CUI:C0041971"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of urethra"@en, "neoplasm. urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:730"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_731, obo:DOID_732 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] ) ] . obo:DOID_7301 oboInOwl:hasExactSynonym "leiomyosarcoma of the Inferior Vena Cava"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inferior vena cava leiomyosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7302 oboInOwl:hasDbXref "NCI:C39927"^^xsd:string, "UMLS_CUI:C1515303"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endodermal sinus pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_7304 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7304"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast carcinoma metastatic to the brain"^^xsd:string ; owl:deprecated true . obo:DOID_7305 obo:IAO_0000115 "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly."^^xsd:string ; oboInOwl:hasDbXref "GARD:10635"^^xsd:string, "MESH:D018302"^^xsd:string, "NCI:C4324"^^xsd:string, "SNOMEDCT_US_2021_03_01:48952003"^^xsd:string, "UMLS_CUI:C0334587"^^xsd:string ; oboInOwl:hasExactSynonym "Astroblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "astroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_7306 oboInOwl:hasExactSynonym "WHO grade III mixed glioma"@en, "anaplastic oligoastrocytoma"@en, "anaplastic oligoastrocytoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7306"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic oligoastrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_731 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014571"^^xsd:string, "NCI:C3431"^^xsd:string, "SNOMEDCT_US_2021_03_01:254913005"^^xsd:string, "UMLS_CUI:C0042076"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of urinary system"@en, "tumor of the urinary system"@en, "tumor of urinary tract"@en, "urinary tract neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urinary system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] ) ] . obo:DOID_7312 oboInOwl:hasDbXref "NCI:C40391"^^xsd:string, "UMLS_CUI:C1511283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast adenomyoepithelial adenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5998 . obo:DOID_7315 oboInOwl:hasDbXref "NCI:C9368"^^xsd:string, "UMLS_CUI:C1336362"^^xsd:string ; oboInOwl:hasExactSynonym "stage IVB urinary bladder carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Jewett-Marshall stage D1 bladder cancer"@en, "Jewett-Marshall stage D2 bladder cancer"@en ; oboInOwl:id "DOID:7315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Jewett-Marshall bladder cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4007 . obo:DOID_7316 oboInOwl:hasExactSynonym "hereditary neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7316"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inherited neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_7319 oboInOwl:hasDbXref "NCI:C27301"^^xsd:string, "SNOMEDCT_US_2021_03_01:60703000"^^xsd:string, "UMLS_CUI:C0270921"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "axonal neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_732 obo:IAO_0000115 "A urinary system disease that is located_in the urethra."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N36.9"^^xsd:string, "MESH:D014522"^^xsd:string, "NCI:C26903"^^xsd:string, "SNOMEDCT_US_2021_03_01:4985009"^^xsd:string, "UMLS_CUI:C0041969"^^xsd:string ; oboInOwl:hasExactSynonym "urethra disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:732"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral disease"^^xsd:string ; rdfs:subClassOf obo:DOID_18 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] ) ] . obo:DOID_7320 obo:IAO_0000115 "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40032"^^xsd:string, "UMLS_CUI:C0877572"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian serous cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5474 . obo:DOID_7323 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7323"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary cerebral lymphoma in immunocompetent host"^^xsd:string ; owl:deprecated true . obo:DOID_7324 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatitis C virus related hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7325 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatitis B virus related hepatocellular carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7326 oboInOwl:hasDbXref "NCI:C27248"^^xsd:string, "UMLS_CUI:C1333162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cranial pseudosarcomatous fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7327 . obo:DOID_7327 oboInOwl:hasDbXref "ICD10CM:M72.4"^^xsd:string, "NCI:C3827"^^xsd:string, "SNOMEDCT_US_2021_03_01:268106003"^^xsd:string, "UMLS_CUI:C0410005"^^xsd:string ; oboInOwl:hasExactSynonym "Fasciitis - nodular"@en, "Pseudosarcomatous Fasciitis"@en, "Pseudosarcomatous fibromatosis"@en, "nodular fasciitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudosarcomatous fibromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9598 . obo:DOID_7328 obo:IAO_0000115 "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6098"^^xsd:string, "UMLS_CUI:C1334287"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "iris spindle cell melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_6994, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001769 ] . obo:DOID_7332 obo:IAO_0000115 "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:017.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:15284007"^^xsd:string, "UMLS_CUI:C0152902"^^xsd:string ; oboInOwl:hasExactSynonym "tuberculosis of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7332"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "esophageal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_404, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_7333 oboInOwl:hasDbXref "NCI:C7415"^^xsd:string, "UMLS_CUI:C1336892"^^xsd:string ; oboInOwl:hasExactSynonym "Nephrogenic adenoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7333"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrogenic adenoma of urinary bladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050623, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_7334 oboInOwl:hasDbXref "NCI:C97097"^^xsd:string, "SNOMEDCT_US_2021_03_01:78236000"^^xsd:string, "UMLS_CUI:C0334039"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7334"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrogenic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_7335 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7335"^^xsd:string ; a owl:Class ; rdfs:label "obsolete extraocular extension of melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_734 obo:IAO_0000115 "An urinary tract cancer that derives_from the tissues of the urethra."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:737"^^xsd:string ; oboInOwl:hasDbXref "GARD:9390"^^xsd:string, "ICD10CM:C68.0"^^xsd:string, "ICD9CM:189.3"^^xsd:string, "MESH:D014523"^^xsd:string, "NCI:C7507"^^xsd:string, "NCI:C9106"^^xsd:string, "SNOMEDCT_US_2021_03_01:363459007"^^xsd:string, "SNOMEDCT_US_2021_03_01:94123008"^^xsd:string, "UMLS_CUI:C0153620"^^xsd:string, "UMLS_CUI:C0700101"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of urethra"@en, "malignant urethral neoplasm"@en, "urethral Ca"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of urethra"@en ; oboInOwl:id "DOID:734"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethra cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3996, obo:DOID_732 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] ) ] . obo:DOID_7340 obo:IAO_0000115 "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6550"^^xsd:string, "UMLS_CUI:C1332988"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric ovarian dysgerminoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7340"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood ovarian dysgerminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6084, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7344 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7344"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic brainstem astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_7345 oboInOwl:hasExactSynonym "Undifferentiated glioma of Brainstem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7345"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic glioma of brain stem"^^xsd:string ; owl:deprecated true . obo:DOID_7347 obo:IAO_0000115 "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40446"^^xsd:string, "UMLS_CUI:C1518743"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7347"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian stromal hyperthecosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_735 oboInOwl:hasExactSynonym "urethra metastatic malignant neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:735"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm of urethra"^^xsd:string ; owl:deprecated true . obo:DOID_7350 oboInOwl:hasDbXref "NCI:C27802"^^xsd:string, "UMLS_CUI:C1331541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_533 . obo:DOID_7351 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7351"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized Askin's tumor"^^xsd:string ; owl:deprecated true . obo:DOID_7352 oboInOwl:hasExactSynonym "Undifferentiated astrocytoma of Diencephalon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7352"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diencephalic anaplastic astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_7356 oboInOwl:hasDbXref "NCI:C5556"^^xsd:string, "UMLS_CUI:C1335689"^^xsd:string ; oboInOwl:hasExactSynonym "sarcomatoid carcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7356"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum sarcomatoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1993, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] . obo:DOID_7357 oboInOwl:hasExactSynonym "Undifferentiated carcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7357"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rectal anaplastic carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7358 oboInOwl:hasExactSynonym "recurrent Rectal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7358"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent rectal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_736 oboInOwl:hasDbXref "NCI:C39867"^^xsd:string, "UMLS_CUI:C1518164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:736"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "male urethral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_734 . obo:DOID_7360 oboInOwl:hasDbXref "NCI:C39925"^^xsd:string, "UMLS_CUI:C1515312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7360"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "solid pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_7362 oboInOwl:hasExactSynonym "teratoma of the central nervous system with malignant Transformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7362"^^xsd:string ; a owl:Class ; rdfs:label "obsolete teratoma of CNS with malignant transformation"^^xsd:string ; owl:deprecated true . obo:DOID_7363 obo:IAO_0000115 "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7363"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar keratinizing squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2101 . obo:DOID_7364 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7364"^^xsd:string ; a owl:Class ; rdfs:label "obsolete organic anxiety disorder"^^xsd:string ; owl:deprecated true . obo:DOID_7365 oboInOwl:hasDbXref "GARD:6835"^^xsd:string, "MESH:D000082242"^^xsd:string, "NCI:C26867"^^xsd:string, "SNOMEDCT_US_2021_03_01:399894006"^^xsd:string, "UMLS_CUI:C0033838"^^xsd:string ; oboInOwl:hasExactSynonym "Kimura's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7365"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kimura disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_7371 obo:IAO_0000115 "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27474"^^xsd:string, "SNOMEDCT_US_2021_03_01:425231005"^^xsd:string, "UMLS_CUI:C1336527"^^xsd:string ; oboInOwl:hasExactSynonym "Superficial urinary bladder carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7371"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "superficial urinary bladder cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4007 . obo:DOID_7378 oboInOwl:hasDbXref "NCI:C27343"^^xsd:string, "UMLS_CUI:C0948740"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7378"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_53 . obo:DOID_7379 obo:IAO_0000115 "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9276"^^xsd:string, "UMLS_CUI:C1334717"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal medulla carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5719, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001236 ] . obo:DOID_738 oboInOwl:hasDbXref "NCI:C39866"^^xsd:string, "UMLS_CUI:C1517154"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:738"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "female urethral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_734 . obo:DOID_7380 oboInOwl:hasDbXref "NCI:C4462"^^xsd:string, "SNOMEDCT_US_2021_03_01:254661000"^^xsd:string, "UMLS_CUI:C0345983"^^xsd:string ; oboInOwl:hasExactSynonym "Parakeratotic skin papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7380"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous cell papilloma of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_3178, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_7381 oboInOwl:hasDbXref "NCI:C27779"^^xsd:string, "UMLS_CUI:C1334464"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7381"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphohistiocytoid mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_7474 . obo:DOID_7384 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7384"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized resectable adult primary hepatoma"^^xsd:string ; owl:deprecated true . obo:DOID_7385 oboInOwl:hasExactSynonym "localized Resectable adult Liver carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7385"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized resectable adult primary liver cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7388 obo:IAO_0000115 "A leiomyosarcoma that is located_in the pulmonary vein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5374"^^xsd:string, "UMLS_CUI:C1335575"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the pulmonary Vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary vein leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_175, obo:DOID_1967, obo:DOID_866 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1967 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002016 ] ) ] . obo:DOID_7389 obo:IAO_0000115 "A leiomyosarcoma that is located_in the pulmonary artery."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5373"^^xsd:string, "UMLS_CUI:C1335572"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the pulmonary artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary artery leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_175, obo:DOID_1967 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1967 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002012 ] ) ] . obo:DOID_739 oboInOwl:hasExactSynonym "metastatic neoplasm to the urethra"@en, "secondary malignant neoplasm of urethra (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:739"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the urethra"^^xsd:string ; owl:deprecated true . obo:DOID_7390 obo:IAO_0000115 "A leiomyosarcoma that is located_in the superior vena cava."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6745"^^xsd:string, "UMLS_CUI:C1336531"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyosarcoma of the Superior Vena Cava"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7390"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "superior vena cava leiomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_175, obo:DOID_1967, obo:DOID_866, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001585 ] . obo:DOID_7391 oboInOwl:hasExactSynonym "malignant tumor of Superior Vena Cava"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7391"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superior vena cava malignant neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_7398 oboInOwl:hasDbXref "MESH:D018242"^^xsd:string, "NCI:C4970"^^xsd:string, "UMLS_CUI:C0751675"^^xsd:string ; oboInOwl:hasExactSynonym "PNET of Cerebrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7398"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral primitive neuroectodermal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_368 . obo:DOID_74 obo:IAO_0000115 "A disease of anatomical entity that has_material_basis_in hematopoietic cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.9"^^xsd:string, "ICD9CM:289.9"^^xsd:string, "MESH:D006402"^^xsd:string, "NCI:C26323"^^xsd:string, "SNOMEDCT_US_2021_03_01:154785002"^^xsd:string, "UMLS_CUI:C0018939"^^xsd:string ; oboInOwl:hasExactSynonym "Blood disease"@en, "Blood dyscrasia"@en, "DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS"@en, "Hematological disease"@en, "blood disorder"@en, "disease of haematopoietic system"@en, "disease of hematopoietic system"@en, "haematopoietic system disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:74"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hematopoietic system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002390 ] ) ] . obo:DOID_7400 obo:IAO_0000115 "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3904"^^xsd:string, "MESH:D049932"^^xsd:string, "NCI:C4692"^^xsd:string, "OMIM:251260"^^xsd:string, "ORDO:647"^^xsd:string, "SNOMEDCT_US_2021_03_01:234638009"^^xsd:string, "UMLS_CUI:C0398791"^^xsd:string ; oboInOwl:hasExactSynonym "Berlin breakage syndrome"@en, "Microcephaly, normal intelligence and immunodeficiency"@en, "NBS"@en, "Seemanova syndrome II"@en, "Seemanova syndrome type 2"@en, "ataxia-telangiectasia variant"@en, "immunodeficiency-microcephaly-chromosomal instability syndrome"@en, "microcephaly-immunodeficiency-lymphoreticuloma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Nijmegen breakage syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_7401 oboInOwl:hasDbXref "NCI:C27447"^^xsd:string, "UMLS_CUI:C3274139"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colonic L-cell glucagon-like peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_219 . obo:DOID_7402 oboInOwl:hasDbXref "NCI:C27448"^^xsd:string, "UMLS_CUI:C3274140"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7402"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "L-cell glucagon-like peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4148 . obo:DOID_7407 oboInOwl:hasExactSynonym "secondary carcinoma to the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7407"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic carcinoma to the uterine cervix"^^xsd:string ; owl:deprecated true . obo:DOID_7408 obo:IAO_0000115 "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40288"^^xsd:string, "UMLS_CUI:C1520086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7408"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar keratoacanthoma-like carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2101 . obo:DOID_7409 obo:IAO_0000115 "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40285"^^xsd:string, "UMLS_CUI:C1520092"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7409"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar non-keratinizing squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2101 . obo:DOID_7410 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7410"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulvar squamous cell carcinoma with tumor giant cells"^^xsd:string ; owl:deprecated true . obo:DOID_7411 obo:IAO_0000115 "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27288"^^xsd:string, "UMLS_CUI:C1335158"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7411"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian endometrioid cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5480 . obo:DOID_7419 oboInOwl:hasExactSynonym "Metaplastic meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7419"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metaplastic meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_7420 oboInOwl:hasExactSynonym "Placental infarct"@en, "Placental infarct (disorder)"@en, "Placental infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7420"^^xsd:string ; a owl:Class ; rdfs:label "obsolete placental infarction"^^xsd:string ; owl:deprecated true . obo:DOID_7423 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian mucinous cystic tumor with mural nodules"^^xsd:string ; owl:deprecated true . obo:DOID_7426 obo:IAO_0000115 "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center."^^xsd:string ; oboInOwl:hasDbXref "GARD:8158"^^xsd:string, "ICD10CM:A22.0"^^xsd:string, "ICD9CM:022.0"^^xsd:string, "MESH:C531621"^^xsd:string, "SNOMEDCT_US_2021_03_01:84980006"^^xsd:string, "UMLS_CUI:C0003177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7426"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cutaneous anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_7427 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7427 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_7427 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "GARD:8157"^^xsd:string, "ICD10CM:A22"^^xsd:string, "ICD9CM:022"^^xsd:string, "MESH:D000881"^^xsd:string, "NCI:C84565"^^xsd:string, "SNOMEDCT_US_2021_03_01:154295005"^^xsd:string, "UMLS_CUI:C0003175"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "anthrax disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1392 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000009 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000421 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000639 ] . obo:DOID_7428 oboInOwl:hasDbXref "NCI:C8712"^^xsd:string, "UMLS_CUI:C0854912"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1660 . obo:DOID_7429 obo:IAO_0000115 "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6207"^^xsd:string, "UMLS_CUI:C1332948"^^xsd:string ; oboInOwl:hasExactSynonym "germinoma of the pediatric brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7429"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood brain germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2127, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_743 obo:IAO_0000115 "A physical urticaria induced by stroking of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.3"^^xsd:string, "ICD9CM:708.3"^^xsd:string, "NCI:C111885"^^xsd:string, "OMIM:125635"^^xsd:string, "SNOMEDCT_US_2021_03_01:201263000"^^xsd:string, "UMLS_CUI:C0343065"^^xsd:string ; oboInOwl:hasExactSynonym "dermatographic urticaria"@en, "dermographism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermatographia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060220 . obo:DOID_7430 obo:IAO_0000115 "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5795"^^xsd:string, "UMLS_CUI:C1377598"^^xsd:string ; oboInOwl:hasExactSynonym "childhood germ cell brain tumour"@en, "germ cell neoplasm of the paediatric brain"@en, "germ cell neoplasm of the pediatric brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7430"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood germ cell brain tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_6052, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_7435 oboInOwl:hasDbXref "NCI:C39930"^^xsd:string, "UMLS_CUI:C1515311"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7435"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyvesicular vitelline pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_7436 obo:IAO_0000115 "An endometrial adenocarcinoma that has_material_basis in mesenchymal elements."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27850"^^xsd:string, "UMLS_CUI:C1336913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid uterine corpus endometrioid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_7437 obo:IAO_0000115 "A perivascular epithelioid cell tumor that is located_in the uterus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40180"^^xsd:string, "UMLS_CUI:C1519862"^^xsd:string ; oboInOwl:hasExactSynonym "uterine corpus PEComa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterus perivascular epithelioid cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2643, obo:DOID_9460 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2643 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] ) ] . obo:DOID_7438 obo:IAO_0000115 "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7980"^^xsd:string, "UMLS_CUI:C0279667"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian clear cell cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3605 . obo:DOID_7439 oboInOwl:hasDbXref "ICD10CM:H74.4"^^xsd:string, "NCI:C6933"^^xsd:string, "SNOMEDCT_US_2021_03_01:155244001"^^xsd:string, "UMLS_CUI:C0271466"^^xsd:string ; oboInOwl:hasExactSynonym "polyp - middle ear"@en, "polyp of the middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7439"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyp of middle ear"^^xsd:string ; rdfs:subClassOf obo:DOID_5100 . obo:DOID_744 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:744"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Muscle calcification and ossification"^^xsd:string ; owl:deprecated true . obo:DOID_7441 oboInOwl:hasDbXref "NCI:C35602"^^xsd:string, "UMLS_CUI:C1333042"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7441"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic metabolic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5221 . obo:DOID_7442 obo:IAO_0000115 "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:7034"^^xsd:string ; oboInOwl:hasExactSynonym "MGUS"@en, "Monoclonal gammopathy of uncertain significance"@en, "Monoclonal gammopathy of undetermined significance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7442"^^xsd:string ; a owl:Class ; rdfs:label "monoclonal gammopathy of uncertain significance"^^xsd:string ; rdfs:subClassOf obo:DOID_620 . obo:DOID_7444 oboInOwl:hasDbXref "NCI:C7364"^^xsd:string, "UMLS_CUI:C1377912"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse intraductal papillomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7444"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsolete diffuse intraductal papillomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_745 obo:IAO_0000115 "A male reproductive organ benign neoplasm that is located_in the epididymis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6382"^^xsd:string, "SNOMEDCT_US_2021_03_01:449052009"^^xsd:string, "UMLS_CUI:C1333415"^^xsd:string ; oboInOwl:hasExactSynonym "benign Epididymal epithelial Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenomatoid neoplasm of the epididymis"@en ; oboInOwl:id "DOID:745"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymis adenomatoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_657, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001136 ], [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] . obo:DOID_7455 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7455"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypogonadotropism"^^xsd:string ; owl:deprecated true . obo:DOID_7457 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7458"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B80"^^xsd:string, "MESH:D010123"^^xsd:string, "SNOMEDCT_US_2021_03_01:154415009"^^xsd:string, "UMLS_CUI:C0030100"^^xsd:string ; oboInOwl:hasExactSynonym "Oxyuris vermicularis infection"@en, "Threadworm infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Enterobius vermicularis infection"@en, "Pinworm infection"@en, "oxyuriasis"@en ; oboInOwl:id "DOID:7457"^^xsd:string ; a owl:Class ; rdfs:label "enterobiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_7459 obo:IAO_0000115 "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40359"^^xsd:string, "UMLS_CUI:C1519485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acantholytic variant squamous cell breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5514 . obo:DOID_746 oboInOwl:hasDbXref "ICD10CM:D19.9"^^xsd:string, "MESH:D018254"^^xsd:string, "NCI:C3762"^^xsd:string, "SNOMEDCT_US_2021_03_01:2348006"^^xsd:string, "UMLS_CUI:C0206675"^^xsd:string ; oboInOwl:hasExactSynonym "adenomatoid tumour"@en, "benign localised epithelial Mesothelioma"@en, "benign localized epithelial Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:746"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenomatoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_2645 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2645 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ; skos:exactMatch "MESH:D018254"^^xsd:string . obo:DOID_7460 obo:IAO_0000115 "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40358"^^xsd:string, "UMLS_CUI:C1519487"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7460"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell variant squamous cell breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5514 . obo:DOID_7461 obo:IAO_0000115 "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40357"^^xsd:string, "UMLS_CUI:C1519486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7461"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large cell keratinizing variant squamous cell breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5514 . obo:DOID_7463 oboInOwl:hasDbXref "NCI:C7959"^^xsd:string, "UMLS_CUI:C0279614"^^xsd:string ; oboInOwl:hasExactSynonym "childhood anaplastic Rhabdomyosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7463"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood pleomorphic rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3250, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7465 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39591"^^xsd:string, "SNOMEDCT_US_2021_03_01:722955006"^^xsd:string, "UMLS_CUI:C1512709"^^xsd:string ; oboInOwl:hasExactSynonym "NK-cell large granular Lymphocyte Lymphocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7465"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic NK-cell lymphocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 . obo:DOID_7468 oboInOwl:hasExactSynonym "Epithelioid and spindle-cell nevus"@en, "desmoplastic nevus"@en, "desmoplastic nevus of skin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7468"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Spitz nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7469 oboInOwl:hasExactSynonym "Balloon cell nevus"@en, "Balloon cell nevus (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete balloon cell nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7470 oboInOwl:hasExactSynonym "neuronevus (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7470"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neural nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7471 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7471"^^xsd:string ; a owl:Class ; rdfs:label "obsolete deep penetrating nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7472 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7472"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent nevus"^^xsd:string ; owl:deprecated true . obo:DOID_7473 oboInOwl:hasExactSynonym "relapsed malignant Pleural Mesothelioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7473"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant pleural mesothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_7474 obo:IAO_0000115 "A pleural cancer that has_material_basis_in mesothelium cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C45.0"^^xsd:string, "MESH:D000086002"^^xsd:string, "NCI:C7376"^^xsd:string, "SNOMEDCT_US_2021_03_01:254645002"^^xsd:string, "UMLS_CUI:C0812413"^^xsd:string ; oboInOwl:hasExactSynonym "malignant mesothelioma of pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7474"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant pleural mesothelioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_1532, obo:DOID_1749, obo:DOID_5158, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000077 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_7475 obo:IAO_0000115 "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004238"^^xsd:string, "NCI:C26752"^^xsd:string, "SNOMEDCT_US_2021_03_01:155779000"^^xsd:string, "UMLS_CUI:C0012813"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7475"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diverticulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_7479 oboInOwl:hasDbXref "NCI:C27407"^^xsd:string, "UMLS_CUI:C1333320"^^xsd:string ; oboInOwl:hasExactSynonym "duodenal delta cell somatostatin producing tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7479"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenal somatostatinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10021 . obo:DOID_7480 oboInOwl:hasDbXref "NCI:C6876"^^xsd:string, "SNOMEDCT_US_2021_03_01:128629005"^^xsd:string, "UMLS_CUI:C1265997"^^xsd:string ; oboInOwl:hasExactSynonym "large cell lung carcinoma with Rhabdoid Phenotype"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "large cell carcinoma with rhabdoid phenotype"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_7482 oboInOwl:hasDbXref "NCI:C5271"^^xsd:string, "UMLS_CUI:C1335396"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Petrous Ridge"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "petrous apex meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7483 obo:IAO_0000115 "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40187"^^xsd:string, "UMLS_CUI:C1517658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7483"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical keratinizing squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_7486 oboInOwl:hasExactSynonym "metastatic renal cell cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7486"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic renal cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7488 obo:IAO_0000115 "A female urethral cancer located_in the posterior urethra."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7640"^^xsd:string, "UMLS_CUI:C0279931"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior urethral malignant tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior urethra cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_738 . obo:DOID_7489 obo:IAO_0000115 "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M92.52"^^xsd:string, "MESH:D055034"^^xsd:string, "NCI:C34874"^^xsd:string, "SNOMEDCT_US_2021_03_01:72047008"^^xsd:string, "UMLS_CUI:C0029376"^^xsd:string ; oboInOwl:hasExactSynonym "Osgood-Schlatter disease"@en, "Osteochondritis of tibial tubercle"@en, "Osteochondrosis of proximal tibia"@en, "juvenile osteochondrosis of tibial tubercle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7489"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Osgood-Schlatter's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3342 . obo:DOID_749 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "GI Bleeding"@en ; oboInOwl:id "DOID:749"^^xsd:string ; a owl:Class ; rdfs:label "active peptic ulcer disease"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_7491 oboInOwl:hasDbXref "NCI:C40319"^^xsd:string, "UMLS_CUI:C1520093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar proximal-type epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2096, obo:DOID_7492 . obo:DOID_7492 oboInOwl:hasDbXref "NCI:C27472"^^xsd:string, "UMLS_CUI:C1335563"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7492"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6193 . obo:DOID_7497 obo:IAO_0000115 "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3861"^^xsd:string, "SNOMEDCT_US_2021_03_01:254939008"^^xsd:string, "UMLS_CUI:C0238029"^^xsd:string ; oboInOwl:hasExactSynonym "Ependymal tumor of brain"@en, "Ependymoma of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7497"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060108, obo:DOID_0060564, obo:DOID_184, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_7498 obo:IAO_0000115 "A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7498"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete AIDS-related Human papillomavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_75 obo:IAO_0000115 "An immune system disease that is located_in the lymphatic system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008206"^^xsd:string, "SNOMEDCT_US_2021_03_01:266326002"^^xsd:string, "UMLS_CUI:C0024228"^^xsd:string ; oboInOwl:hasExactSynonym "Adenopathy"@en, "Lymphangiopathy"@en, "Lymphatic disease"@en, "Lymphatic disorder"@en, "disease of lympoid system"@en, "disorder of lymph node and lymphatics"@en, "disorder of lymphatic system"@en, "disorder of lymphoid system"@en, "lymphatic disorder"@en, "lympoid system disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:75"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "lymphatic system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ) ] . obo:DOID_750 oboInOwl:hasAlternativeId "DOID:11466"^^xsd:string, "DOID:12635"^^xsd:string, "DOID:13115"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K27"^^xsd:string, "ICD9CM:533"^^xsd:string, "MESH:D010437"^^xsd:string, "NCI:C3318"^^xsd:string, "SNOMEDCT_US_2021_03_01:155701001"^^xsd:string, "UMLS_CUI:C0030920"^^xsd:string ; oboInOwl:hasExactSynonym "acute peptic ulcer with hemorrhage"@en, "acute peptic ulcer with hemorrhage and perforation"@en, "acute peptic ulcer without hemorrhage AND without perforation"@en, "acute peptic ulcer without hemorrhage and without perforation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peptic ulcer disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 . obo:DOID_7501 oboInOwl:hasDbXref "NCI:C9041"^^xsd:string, "UMLS_CUI:C0278599"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric infratentorial ependymoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7501"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood infratentorial ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4706, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7502 oboInOwl:hasDbXref "NCI:C9043"^^xsd:string, "UMLS_CUI:C0278650"^^xsd:string ; oboInOwl:hasExactSynonym "paediatric Cerebral Ependymoma"@en, "paediatric Supratentorial Ependymoblastoma"@en, "paediatric supratentorial ependymoma"@en, "pediatric Cerebral Ependymoma"@en, "pediatric Supratentorial Ependymoblastoma"@en, "pediatric supratentorial ependymoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7502"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood supratentorial ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1659, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7503 obo:IAO_0000115 "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5849"^^xsd:string, "UMLS_CUI:C1333510"^^xsd:string ; oboInOwl:hasExactSynonym "Papillary adenoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7503"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct papillary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5438 . obo:DOID_7504 oboInOwl:hasExactSynonym "testicular mixed Embryonal carcinoma and Yolk Sac tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7504"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_7505 oboInOwl:hasDbXref "NCI:C4432"^^xsd:string, "SNOMEDCT_US_2021_03_01:126832004"^^xsd:string, "UMLS_CUI:C0345832"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of small intestine"@en, "small intestinal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7505"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4610, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] . obo:DOID_7506 oboInOwl:hasDbXref "NCI:C27452"^^xsd:string, "UMLS_CUI:C3274143"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7506"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestinal L-cell glucagon-like peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 . obo:DOID_7507 oboInOwl:hasExactSynonym "Placenta Malformation"@en, "Variation of placenta form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7507"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malformation of placenta"^^xsd:string ; owl:deprecated true . obo:DOID_7511 obo:IAO_0000115 "A breast papillomatosis that is located within the ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5201"^^xsd:string, "UMLS_CUI:C1334247"^^xsd:string ; oboInOwl:hasExactSynonym "Intraductal papillomatosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7511"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast intraductal papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1634 . obo:DOID_7512 oboInOwl:hasDbXref "NCI:C7365"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7512"^^xsd:string ; a owl:Class ; rdfs:comment "Obsolete Concept in NCI, LS."^^xsd:string ; rdfs:label "obsolete localized intraductal papillomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_7514 oboInOwl:hasDbXref "MESH:C536741"^^xsd:string, "NCI:C40141"^^xsd:string, "UMLS_CUI:C1520159"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Wolffian adnexal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_5727 . obo:DOID_7515 oboInOwl:hasDbXref "NCI:C5298"^^xsd:string, "UMLS_CUI:C1334436"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of Lumbar Spinal canal and Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7515"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lumbar spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_7516 obo:IAO_0000115 "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27403"^^xsd:string, "UMLS_CUI:C1332956"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7516"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood central nervous system mixed germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_6052, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_7517 oboInOwl:hasExactSynonym "mixed germ cell tumor of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7517"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system mixed germ cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_7518 oboInOwl:hasDbXref "ICD10CM:F52.31"^^xsd:string, "ICD9CM:302.73"^^xsd:string, "NCI:C34958"^^xsd:string, "SNOMEDCT_US_2021_03_01:60103007"^^xsd:string, "UMLS_CUI:C0033948"^^xsd:string ; oboInOwl:hasExactSynonym "female Orgasmic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7518"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inhibited female orgasm"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_7519 obo:IAO_0000115 "A cervix carcinoma that is located_in the endocervix."^^xsd:string ; oboInOwl:hasDbXref "NCI:C28327"^^xsd:string, "SNOMEDCT_US_2021_03_01:372098004"^^xsd:string, "UMLS_CUI:C1299237"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of endocervix"@en, "carcinoma of the Endocervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7519"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocervical carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2893, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000458 ] . obo:DOID_752 oboInOwl:hasAlternativeId "DOID:751"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010439"^^xsd:string, "SNOMEDCT_US_2021_03_01:88169003"^^xsd:string, "UMLS_CUI:C0030925"^^xsd:string ; oboInOwl:hasExactSynonym "Peptic ulcer with perforation"@en, "Perforated peptic ulcer"@en, "acute peptic ulcer with perforation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:752"^^xsd:string ; a owl:Class ; rdfs:label "peptic ulcer perforation"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_7520 obo:IAO_0000115 "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40388"^^xsd:string, "UMLS_CUI:C1518974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7520"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periductal breast myoepitheliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_7521 . obo:DOID_7521 obo:IAO_0000115 "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40385"^^xsd:string, "UMLS_CUI:C1513799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast myoepitheliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3004 . obo:DOID_7522 obo:IAO_0000115 "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6773"^^xsd:string, "UMLS_CUI:C1332972"^^xsd:string ; oboInOwl:hasExactSynonym "childhood infratentorial ependymoblastoma"^^xsd:string, "pediatric infratentorial ependymoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7522"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string ; rdfs:subClassOf obo:DOID_4207, obo:DOID_7841, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7526 oboInOwl:hasExactSynonym "metastatic tumor to the Ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7526"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm to the ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_7527 obo:IAO_0000115 "An acute endometritis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:186913003"^^xsd:string, "UMLS_CUI:C0153196"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal endometritis"@en, "Uterus - acute gonorrhoea"@en, "acute gonorrhea of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7527"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_7528 . obo:DOID_7528 obo:IAO_0000115 "An endometritis that is characterized by onset within the past 1 - 3 days."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27022"^^xsd:string, "SNOMEDCT_US_2021_03_01:155976002"^^xsd:string, "UMLS_CUI:C0238103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7528"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1002 . obo:DOID_7531 obo:IAO_0000115 "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5609"^^xsd:string, "SNOMEDCT_US_2021_03_01:128655006"^^xsd:string, "UMLS_CUI:C1266027"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of anal ducts"@en, "anal glands adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of anal gland"@en ; oboInOwl:id "DOID:7531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal gland adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3447 . obo:DOID_7532 oboInOwl:hasDbXref "NCI:C9009"^^xsd:string, "SNOMEDCT_US_2021_03_01:82049002"^^xsd:string, "UMLS_CUI:C1378340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7532"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "squamous papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 . obo:DOID_7533 oboInOwl:hasDbXref "NCI:C9008"^^xsd:string ; oboInOwl:hasExactSynonym "Subareolar duct papillomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7533"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subareolar duct papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3003 . obo:DOID_7537 obo:IAO_0000115 "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium."^^xsd:string ; oboInOwl:hasExactSynonym "cystic hypersecretory duct carcinoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cystic hypersecretory carcinoma of the breast"@en ; oboInOwl:id "DOID:7537"^^xsd:string ; a owl:Class ; rdfs:label "breast cystic hypersecretory carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4922 . obo:DOID_7538 obo:IAO_0000115 "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40384"^^xsd:string, "UMLS_CUI:C1511307"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7538"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast ductal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1625 . obo:DOID_7539 obo:IAO_0000115 "A breast adenoma that occurs during pregnancy."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9473"^^xsd:string, "SNOMEDCT_US_2021_03_01:128651002"^^xsd:string, "UMLS_CUI:C1266023"^^xsd:string ; oboInOwl:hasExactSynonym "Lactating adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7539"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pregnancy adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1625 . obo:DOID_754 obo:IAO_0000115 "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.12"^^xsd:string, "ICD9CM:016.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:32268008"^^xsd:string, "UMLS_CUI:C0152793"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of bladder"@en, "Tuberculous cystitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:754"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "bladder tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2149, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_7540 obo:IAO_0000115 "A breast adenoma that is characterized by apocine differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40383"^^xsd:string, "UMLS_CUI:C1388299"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast apocrine adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1625 . obo:DOID_7541 obo:IAO_0000115 "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40364"^^xsd:string, "UMLS_CUI:C1513365"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7541"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed epithelial/mesenchymal metaplastic breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4680 . obo:DOID_7542 oboInOwl:hasDbXref "NCI:C6469"^^xsd:string, "SNOMEDCT_US_2021_03_01:33681003"^^xsd:string, "UMLS_CUI:C0334546"^^xsd:string ; oboInOwl:hasExactSynonym "Osteosarcoma Arising in osseous Paget's disease"@en, "osteosarcoma arising in bone Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7542"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteosarcoma arising in bone Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3376 . obo:DOID_7543 oboInOwl:hasExactSynonym "recurrent squamous cell carcinoma of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7543"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent squamous cell carcinoma of the esophagus"^^xsd:string ; owl:deprecated true . obo:DOID_7544 oboInOwl:hasExactSynonym "relapsed carcinoma of the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7544"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent esophagus cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7549 oboInOwl:hasDbXref "NCI:C6088"^^xsd:string, "SNOMEDCT_US_2021_03_01:403945001"^^xsd:string, "UMLS_CUI:C0334352"^^xsd:string ; oboInOwl:hasExactSynonym "Ceruminous adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7549"^^xsd:string ; a owl:Class ; rdfs:label "ceruminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5876 . obo:DOID_7551 obo:IAO_0000115 "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10409"^^xsd:string, "DOID:13557"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A54"^^xsd:string, "ICD9CM:098"^^xsd:string, "MEDDRA:10018604"^^xsd:string, "MESH:D006069"^^xsd:string, "NCI:C92950"^^xsd:string, "SNOMEDCT_US_2021_03_01:186943001"^^xsd:string, "UMLS_CUI:C0018081"^^xsd:string ; oboInOwl:hasExactSynonym "chronic gonococcal infectious disease of lower genitourinary tract"@en, "chronic gonococcal infectious disease of upper genitourinary tract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7551"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, obo:DOID_1962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_485 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000057 obo:UBERON_0000165 obo:UBERON_0000341 obo:UBERON_0000970 obo:UBERON_0000995 obo:UBERON_0001245 ) ] ] . obo:DOID_7553 oboInOwl:hasAlternativeId "DOID:7552"^^xsd:string, "DOID:7800"^^xsd:string ; oboInOwl:hasDbXref "NCI:C39824"^^xsd:string, "UMLS_CUI:C1512743"^^xsd:string ; oboInOwl:hasExactSynonym "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements"@en, "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7553"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating bladder urothelial carcinoma sarcomatoid variant"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7554 oboInOwl:hasExactSynonym "Paget's disease and intraductal carcinoma of breast"@en, "Paget's disease and intraductal carcinoma of breast (morphologic abnormality)"@en, "Paget's disease of the breast with Intraductal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7554"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Paget's disease and intraductal carcinoma of breast"^^xsd:string ; owl:deprecated true . obo:DOID_7555 obo:IAO_0000115 "A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration."^^xsd:string ; oboInOwl:hasExactSynonym "Human immunodefiency virus leukoencephalopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7555"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV leukoencephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_7558 oboInOwl:hasDbXref "MESH:D020435"^^xsd:string, "NCI:C27212"^^xsd:string, "UMLS_CUI:C0751942"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7558"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glossopharyngeal motor neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_3418, obo:DOID_683, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001649 ] . obo:DOID_7559 oboInOwl:hasDbXref "NCI:C27953"^^xsd:string, "UMLS_CUI:C1332341"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7559"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "asymmetric motor neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_683 . obo:DOID_7565 obo:IAO_0000115 "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40306"^^xsd:string, "UMLS_CUI:C1520081"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7565"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar eccrine porocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294 . obo:DOID_7566 oboInOwl:hasDbXref "GARD:7431"^^xsd:string, "MESH:D057090"^^xsd:string, "NCI:C5560"^^xsd:string, "SNOMEDCT_US_2021_03_01:254708001"^^xsd:string, "UMLS_CUI:C1266065"^^xsd:string ; oboInOwl:hasExactSynonym "Eccrine porocarcinoma of skin"@en, "Porocarcinoma"@en, "malignant Eccrine Poroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7566"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eccrine porocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4921 . obo:DOID_7567 obo:IAO_0000115 "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40307"^^xsd:string, "UMLS_CUI:C1520076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7567"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulvar clear cell hidradenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1294 . obo:DOID_7568 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7568"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult brain meningioma"^^xsd:string ; owl:deprecated true . obo:DOID_757 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:757"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyrotoxicosis with toxic single thyroid nodule"^^xsd:string ; owl:deprecated true . obo:DOID_7571 oboInOwl:hasExactSynonym "malignant Multilocular cystic Nephroma"@en, "malignant cystic Nephroma"@en, "malignant multilocular cystic nephroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7571"^^xsd:string ; a owl:Class ; rdfs:label "malignant cystic nephroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080616, obo:DOID_263 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001851 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] ) ] . obo:DOID_7574 oboInOwl:hasDbXref "NCI:C5725"^^xsd:string, "UMLS_CUI:C1335304"^^xsd:string ; oboInOwl:hasExactSynonym "Intraductal Papillary-mucinous carcinoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7574"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic intraductal papillary-colloid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4074, obo:DOID_7575 . obo:DOID_7575 obo:IAO_0000115 "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts."^^xsd:string ; oboInOwl:hasBroadSynonym "Pancreatic Intraductal Neoplasms"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:128689007"^^xsd:string, "UMLS_CUI:C1266071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7575"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic intraductal papillary-mucinous neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1795 . obo:DOID_7576 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7576"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic pancreatic adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7577 oboInOwl:hasDbXref "NCI:C37256"^^xsd:string, "UMLS_CUI:C1335303"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic foamy gland adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4074 . obo:DOID_7578 obo:IAO_0000115 "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7362"^^xsd:string, "SNOMEDCT_US_2021_03_01:254839007"^^xsd:string, "UMLS_CUI:C0346151"^^xsd:string ; oboInOwl:hasExactSynonym "Infiltrating carcinoma of breast with Fibrotic Stroma"@en, "Scirrhous carcinoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "scirrhous carcinoma of breast"@en ; oboInOwl:id "DOID:7578"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast scirrhous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_758 oboInOwl:hasDbXref "GARD:4883"^^xsd:string, "ICD10CM:Q89.3"^^xsd:string, "ICD9CM:759.3"^^xsd:string, "MESH:D012857"^^xsd:string, "NCI:C87121"^^xsd:string, "OMIM:270100"^^xsd:string, "SNOMEDCT_US_2021_03_01:157033002"^^xsd:string, "UMLS_CUI:C0037221"^^xsd:string ; oboInOwl:hasExactSynonym "Complete transposition"@en, "Laterality sequence"@en, "situs inversus viscerum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:758"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "situs inversus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050545 . obo:DOID_7581 oboInOwl:hasExactSynonym "Depressive type psychosis"@en, "Severe major depression with psychotic features (disorder)"@en, "psychotic depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7581"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychogenic depressive psychosis"^^xsd:string ; owl:deprecated true . obo:DOID_7583 oboInOwl:hasDbXref "NCI:C8189"^^xsd:string, "UMLS_CUI:C0280329"^^xsd:string ; oboInOwl:hasExactSynonym "Glottic verrucous carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "verrucous carcinoma of glottis"@en ; oboInOwl:id "DOID:7583"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glottis verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7031 . obo:DOID_7584 oboInOwl:hasDbXref "NCI:C8190"^^xsd:string, "UMLS_CUI:C0280330"^^xsd:string ; oboInOwl:hasExactSynonym "verrucous carcinoma of Subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "verrucous carcinoma of the subglottis"@en ; oboInOwl:id "DOID:7584"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7585 . obo:DOID_7585 oboInOwl:hasDbXref "NCI:C8187"^^xsd:string, "UMLS_CUI:C0280326"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7585"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_7764, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036068 ] . obo:DOID_7586 oboInOwl:hasDbXref "NCI:C8191"^^xsd:string, "UMLS_CUI:C0280331"^^xsd:string ; oboInOwl:hasExactSynonym "verrucous carcinoma of Supraglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "verrucous carcinoma of the supraglottis"@en ; oboInOwl:id "DOID:7586"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supraglottis verrucous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7587 . obo:DOID_7587 oboInOwl:hasDbXref "NCI:C4945"^^xsd:string, "UMLS_CUI:C0749163"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Supraglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supraglottis squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_7763, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036263 ] . obo:DOID_7588 oboInOwl:hasExactSynonym "mixed Yolk Sac tumor and teratoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7588"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed endodermal sinus neoplasm and teratoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_7589 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7589"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with melanocytic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_759 oboInOwl:hasExactSynonym "congenital abnormality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:759"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital disorder"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_7590 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7590"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary melanocytic lesion"^^xsd:string ; owl:deprecated true . obo:DOID_7591 obo:IAO_0000115 "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40442"^^xsd:string, "UMLS_CUI:C1517538"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7591"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gestational ovarian choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5550 . obo:DOID_7593 oboInOwl:hasExactSynonym "relapsed pediatric Medulloblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7593"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric medulloblastoma"^^xsd:string ; owl:deprecated true . obo:DOID_7596 oboInOwl:hasDbXref "NCI:C27925"^^xsd:string, "UMLS_CUI:C1332337"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7596"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "asbestos-related lung carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_7598 obo:IAO_0000115 "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40193"^^xsd:string, "UMLS_CUI:C1516418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7598"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical lymphoepithelioma-like carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_7599 oboInOwl:hasDbXref "NCI:C7998"^^xsd:string, "UMLS_CUI:C0279706"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoepithelioma-like carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7599"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoepithelioma-like thymic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3284 . obo:DOID_76 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the stomach."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013272"^^xsd:string, "NCI:C26886"^^xsd:string, "SNOMEDCT_US_2021_03_01:196598004"^^xsd:string, "UMLS_CUI:C0038354"^^xsd:string ; oboInOwl:hasExactSynonym "Gastropathy"@en, "stomach disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "gastric disease"@en ; oboInOwl:id "DOID:76"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "stomach disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] ) ] . obo:DOID_7600 oboInOwl:hasDbXref "NCI:C39821"^^xsd:string, "UMLS_CUI:C1512736"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7600"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating bladder lymphoepithelioma-like carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7601 oboInOwl:hasExactSynonym "Advanced malignant Mesothelioma of Pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7601"^^xsd:string ; a owl:Class ; rdfs:label "obsolete advanced malignant pleural mesothelioma"^^xsd:string ; owl:deprecated true . obo:DOID_7602 oboInOwl:hasDbXref "ICDO:9195/3"^^xsd:string, "NCI:C35870"^^xsd:string, "SNOMEDCT_US_2021_03_01:128774006"^^xsd:string, "UMLS_CUI:C1266166"^^xsd:string ; oboInOwl:hasExactSynonym "Intracortical osteosarcoma"@en, "intracortical osteogenic sarcoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3378 . obo:DOID_7603 oboInOwl:hasDbXref "NCI:C4020"^^xsd:string, "SNOMEDCT_US_2021_03_01:12690005"^^xsd:string, "UMLS_CUI:C0279602"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroblastic osteosarcoma"@en, "Fibrosarcomatous Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrosarcomatous osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3378 . obo:DOID_7607 oboInOwl:hasDbXref "NCI:C4154"^^xsd:string, "SNOMEDCT_US_2021_03_01:12205003"^^xsd:string, "UMLS_CUI:C0334320"^^xsd:string ; oboInOwl:hasExactSynonym "Chief cell adenoma of Parathyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chief cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7608 . obo:DOID_7608 obo:IAO_0000115 "A parathyroid gland benign neoplam that is located_in the parathyroid."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010282"^^xsd:string, "NCI:C3916"^^xsd:string, "SNOMEDCT_US_2021_03_01:128474007"^^xsd:string, "UMLS_CUI:C0262587"^^xsd:string ; oboInOwl:hasExactSynonym "adenoma of the Parathyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of parathyroid"@en ; oboInOwl:id "DOID:7608"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parathyroid adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_60008, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_7609 oboInOwl:hasDbXref "NCI:C7993"^^xsd:string, "UMLS_CUI:C0279700"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell adenoma of the Parathyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7609"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parathyroid transitional clear cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7608 . obo:DOID_761 oboInOwl:hasExactSynonym "Meningococcal endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:761"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_7610 oboInOwl:hasDbXref "NCI:C7994"^^xsd:string, "UMLS_CUI:C0279701"^^xsd:string ; oboInOwl:hasExactSynonym "mixed cell type adenoma of the Parathyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7610"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed cell type adenoma of parathyroid"^^xsd:string ; rdfs:subClassOf obo:DOID_7608 . obo:DOID_7611 oboInOwl:hasDbXref "NCI:C27393"^^xsd:string, "UMLS_CUI:C1335351"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7611"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parathyroid oncocytic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7608 . obo:DOID_7612 oboInOwl:hasDbXref "NCI:C6590"^^xsd:string, "UMLS_CUI:C1332974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7612"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood intracortical osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7602, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7613 oboInOwl:hasDbXref "NCI:C4334"^^xsd:string, "SNOMEDCT_US_2021_03_01:14494009"^^xsd:string, "UMLS_CUI:C0334612"^^xsd:string ; oboInOwl:hasExactSynonym "Meningeal sarcomatosis"@en, "sarcomatosis of meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7613"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatosis of the meninges"^^xsd:string ; rdfs:subClassOf obo:DOID_7614, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002360 ] . obo:DOID_7614 oboInOwl:hasDbXref "NCI:C4073"^^xsd:string, "SNOMEDCT_US_2021_03_01:78303004"^^xsd:string, "UMLS_CUI:C0302327"^^xsd:string ; oboInOwl:hasExactSynonym "Meningeal sarcoma"@en, "sarcoma of meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7614"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meninges sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_3565, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_7615 obo:IAO_0000115 "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4243"^^xsd:string, "SNOMEDCT_US_2021_03_01:9395006"^^xsd:string, "UMLS_CUI:C0334451"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_762 oboInOwl:hasAlternativeId "DOID:14105"^^xsd:string ; oboInOwl:hasExactSynonym "Bacterial endocarditis"@en, "Bacterial endocarditis (& [acute] or [subacute])"@en, "Bacterial endocarditis (disorder)"@en, "Bacterial endocarditis (disorder) [Ambiguous]"@en, "Endocarditis, infective NOS"@en, "acute and subacute bacterial endocarditis"@en, "acute and subacute bacterial endocarditis (disorder)"@en, "acute and subacute bacterial endocarditis NOS (disorder)"@en, "bacterial endocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bacterial endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_763 oboInOwl:hasExactSynonym "Meningococcal carditis (disorder)"@en, "Meningococcal carditis NOS (disorder)"@en, "Meningococcal carditis unspecified (disorder)"@en, "Meningococcal carditis, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:763"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal carditis"^^xsd:string ; owl:deprecated true . obo:DOID_7631 oboInOwl:hasDbXref "NCI:C8290"^^xsd:string, "UMLS_CUI:C0281330"^^xsd:string ; oboInOwl:hasExactSynonym "adult ependymoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7631"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string ; rdfs:subClassOf obo:DOID_0080903, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7632 obo:IAO_0000115 "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39864"^^xsd:string, "UMLS_CUI:C1516284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cowper gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3856, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_7633 oboInOwl:hasDbXref "MESH:D012167"^^xsd:string, "NCI:C34795"^^xsd:string, "SNOMEDCT_US_2021_03_01:193388002"^^xsd:string, "UMLS_CUI:C0024441"^^xsd:string ; oboInOwl:hasExactSynonym "Macular hole"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macular holes"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_7634 oboInOwl:hasDbXref "NCI:C6776"^^xsd:string, "UMLS_CUI:C1336535"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "suprasellar meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_7635 oboInOwl:hasDbXref "NCI:C6779"^^xsd:string, "UMLS_CUI:C1333760"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of Gasserian Ganglion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7635"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Gasserian ganglion meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_3011045 ] ) ] . obo:DOID_7636 oboInOwl:hasExactSynonym "relapsed carcinoma of the small Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7636"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of small Intestine"^^xsd:string ; owl:deprecated true . obo:DOID_7638 oboInOwl:hasExactSynonym "Paget's disease of breast with Infiltrating ductal carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7638"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Paget's disease and invasive ductal carcinoma of breast"^^xsd:string ; owl:deprecated true . obo:DOID_7639 oboInOwl:hasDbXref "NCI:C5614"^^xsd:string, "UMLS_CUI:C1334575"^^xsd:string ; oboInOwl:hasExactSynonym "malignant granular cell skin neoplasm"@en, "malignant granular cell skin tumour"@en, "malignant granular cell tumor of skin"@en, "malignant granular cell tumour of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant granular cell skin tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5274 . obo:DOID_764 oboInOwl:hasExactSynonym "Meningococcal pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:764"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_7641 oboInOwl:hasExactSynonym "Unresectable Small Intestine carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7641"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-resectable small intestine carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7642 oboInOwl:hasDbXref "NCI:C41617"^^xsd:string, "UMLS_CUI:C1516490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7642"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholangiolocellular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4928 . obo:DOID_7643 oboInOwl:hasDbXref "NCI:C4460"^^xsd:string, "SNOMEDCT_US_2021_03_01:254654004"^^xsd:string, "UMLS_CUI:C0345979"^^xsd:string ; oboInOwl:hasExactSynonym "Acantholytic squamous cell carcinoma of skin"@en, "Acantholytic squamous cell skin carcinoma"@en, "acantholytic squamous cell carcinoma of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acantholytic squamous cell skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_7646 oboInOwl:hasDbXref "NCI:C5275"^^xsd:string, "UMLS_CUI:C1334825"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple meningiomas of the Spinal canal and Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7646"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_7650 obo:IAO_0000115 "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40440"^^xsd:string, "UMLS_CUI:C1518737"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7650"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary type ovarian small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6179 . obo:DOID_7651 obo:IAO_0000115 "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40439"^^xsd:string, "UMLS_CUI:C1518736"^^xsd:string ; oboInOwl:hasExactSynonym "hypercalcemic type ovarian small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7651"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "small-cell carcinoma of the ovary of hypercalcemic type"^^xsd:string ; rdfs:subClassOf obo:DOID_6179 . obo:DOID_7652 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7652"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rare cancer-associated syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_7656 oboInOwl:hasDbXref "NCI:C8289"^^xsd:string, "UMLS_CUI:C0281329"^^xsd:string ; oboInOwl:hasExactSynonym "adult Infiltrating Astrocytic tumor"@en, "adult Infiltrating astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult infiltrating astrocytic neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3076, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7657 oboInOwl:hasExactSynonym "Undifferentiated astrocytoma of adult"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7657"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic astrocytoma of adult"^^xsd:string ; owl:deprecated true . obo:DOID_7664 obo:IAO_0000115 "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7664"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial mixed adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2870 . obo:DOID_7665 obo:IAO_0000115 "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39991"^^xsd:string, "UMLS_CUI:C1518355"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7665"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "non-gestational ovarian choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5351, obo:DOID_5550 . obo:DOID_767 oboInOwl:hasDbXref "MESH:D009133"^^xsd:string, "NCI:C94834"^^xsd:string, "SNOMEDCT_US_2021_03_01:267693003"^^xsd:string, "UMLS_CUI:C0026846"^^xsd:string ; oboInOwl:hasExactSynonym "Amyotrophia"@en, "Muscle wasting"@en, "Wasting - muscle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:767"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_423 . obo:DOID_7671 oboInOwl:hasExactSynonym "relapsed carcinoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7671"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent penis cancer"^^xsd:string ; owl:deprecated true . obo:DOID_7672 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7672"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regressing non-cutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_7675 oboInOwl:hasDbXref "NCI:C39951"^^xsd:string, "UMLS_CUI:C1515282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7675"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular fibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087 . obo:DOID_7676 oboInOwl:hasDbXref "NCI:C39952"^^xsd:string, "UMLS_CUI:C1515299"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7676"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular thecoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087 . obo:DOID_7677 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7677"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone metastatic Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7678 oboInOwl:hasDbXref "NCI:C6841"^^xsd:string, "UMLS_CUI:C1336037"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the Sphenoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoid sinus inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2615, obo:DOID_6947, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_7679 oboInOwl:hasDbXref "NCI:C6838"^^xsd:string, "UMLS_CUI:C1336038"^^xsd:string ; oboInOwl:hasExactSynonym "Schneiderian papilloma of the Sphenoid sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoid sinus Schneiderian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_6947 . obo:DOID_768 obo:IAO_0000115 "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina."^^xsd:string ; oboInOwl:hasDbXref "GARD:7563"^^xsd:string, "ICDO:9510/3"^^xsd:string, "MESH:D012175"^^xsd:string, "NCI:C7541"^^xsd:string, "OMIM:180200"^^xsd:string, "SNOMEDCT_US_2021_03_01:154553002"^^xsd:string, "UMLS_CUI:C0035335"^^xsd:string ; oboInOwl:hasExactSynonym "RB"@en, "RB - Retinoblastoma"@en, "neuroblastoma of Retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:768"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_771 . obo:DOID_7681 oboInOwl:hasExactSynonym "mixed Choriocarcinoma and teratoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7681"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed choriocarcinoma and teratoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_7683 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7683"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dissecting aortic aneurysm"^^xsd:string ; owl:deprecated true . obo:DOID_7684 oboInOwl:hasDbXref "NCI:C6240"^^xsd:string, "UMLS_CUI:C1334642"^^xsd:string ; oboInOwl:hasExactSynonym "adenocarcinoma of the maxillary sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of maxillary sinus"@en ; oboInOwl:id "DOID:7684"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1357, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001764 ] . obo:DOID_7685 oboInOwl:hasDbXref "NCI:C41251"^^xsd:string, "UMLS_CUI:C1518873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic non-invasive intraductal papillary-mucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7574 . obo:DOID_7689 oboInOwl:hasDbXref "NCI:C8312"^^xsd:string, "SNOMEDCT_US_2021_03_01:78303004"^^xsd:string, "UMLS_CUI:C1384416"^^xsd:string ; oboInOwl:hasExactSynonym "Leptomeningeal sarcoma"@en, "sarcoma of Leptomeninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7689"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leptomeninges sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_6086, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000391 ] . obo:DOID_769 obo:IAO_0000115 "An autonomic nervous system neoplasm that derives_from immature nerve cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000621"^^xsd:string, "GARD:7185"^^xsd:string, "ICDO:M9500/3"^^xsd:string, "MESH:D009447"^^xsd:string, "NCI:C3270"^^xsd:string, "ORDO:635"^^xsd:string, "SNOMEDCT_US_2021_03_01:432328008"^^xsd:string, "UMLS_CUI:C0027819"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:769"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2621 . obo:DOID_7693 obo:IAO_0000115 "An aortic aneurysm that is located_in the abdominal aorta."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004214"^^xsd:string, "GARD:9181"^^xsd:string, "MESH:D017544"^^xsd:string, "NCI:C27000"^^xsd:string, "OMIM:100070"^^xsd:string, "OMIM:609782"^^xsd:string, "OMIM:611891"^^xsd:string, "OMIM:614375"^^xsd:string, "SNOMEDCT_US_2021_03_01:155422008"^^xsd:string, "UMLS_CUI:C0162871"^^xsd:string ; oboInOwl:hasExactSynonym "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7693"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "abdominal aortic aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_3627 . obo:DOID_7694 oboInOwl:hasDbXref "NCI:C39843"^^xsd:string, "UMLS_CUI:C1511204"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7694"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder urachal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11817, obo:DOID_3711, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002068 ] . obo:DOID_7696 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:93827000"^^xsd:string, "UMLS_CUI:C0346601"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of lung Hilum"@en, "primary malignant neoplasm of hilus of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7696"^^xsd:string ; a owl:Class ; rdfs:label "lung hilum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1324 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004886 ] ) ] . obo:DOID_7697 oboInOwl:hasDbXref "NCI:C27466"^^xsd:string, "UMLS_CUI:C1335300"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic ACTH hormone producing tumour"@en, "pancreatic Adrenocorticotropic Hormone Producing tumor"@en, "pancreatic Adrenocorticotropic Hormone Producing tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7697"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic ACTH hormone producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_7698 oboInOwl:hasDbXref "MESH:C536126"^^xsd:string, "NCI:C45837"^^xsd:string, "SNOMEDCT_US_2021_03_01:703816006"^^xsd:string, "UMLS_CUI:C1334977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "non-functioning pancreatic endocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1799 . obo:DOID_77 obo:IAO_0000115 "A disease of anatomical entity that is located_in the gastrointestinal tract."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:27"^^xsd:string, "DOID:944"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K92.9"^^xsd:string, "ICD9CM:520-579.99"^^xsd:string, "MESH:D004066"^^xsd:string, "SNOMEDCT_US_2021_03_01:53619000"^^xsd:string, "UMLS_CUI:C0012242"^^xsd:string ; oboInOwl:hasExactSynonym "GIT disease"@en, "Gastroenteropathy"@en, "alimentary system disease"@en, "digestive system disorder"@en, "gastrointestinal disease"@en, "gastrointestinal disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:77"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "gastrointestinal system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_7702 obo:IAO_0000115 "An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related oropharyngeal candidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_7704 obo:IAO_0000115 "A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers."^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related Endocervical adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7704"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related endocervical adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7706 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis."^^xsd:string ; oboInOwl:hasExactSynonym "CMV esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7706"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus esophagitis"^^xsd:string ; owl:deprecated true . obo:DOID_7707 oboInOwl:hasDbXref "NCI:C9168"^^xsd:string, "UMLS_CUI:C0279654"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell adenocarcinoma of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7707"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectum signet ring adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1996 . obo:DOID_7708 oboInOwl:hasDbXref "NCI:C7476"^^xsd:string, "UMLS_CUI:C1332270"^^xsd:string ; oboInOwl:hasExactSynonym "perianal skin Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7708"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perianal skin Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4284 . obo:DOID_771 obo:IAO_0000115 "A malignant neoplasm that derives_from the retina."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7061"^^xsd:string, "UMLS_CUI:C1335765"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:771"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_4645 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0009004 ] ) ] . obo:DOID_7710 oboInOwl:hasExactSynonym "metastatic extraosseous chondrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7710"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic extraskeletal chondrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7712 obo:IAO_0000115 "An adult sarcoma of soft tissue that derives_form the soft tissues of the body."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed adult sarcoma of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7712"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent adult soft tissue sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7713 oboInOwl:hasDbXref "NCI:C5284"^^xsd:string, "UMLS_CUI:C1336829"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Tuberculum Sellae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tuberculum sellae meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3643 . obo:DOID_7714 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7714"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant hemangiopericytoma"^^xsd:string ; owl:deprecated true . obo:DOID_7716 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:999000"^^xsd:string, "UMLS_CUI:C1301048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed ductal-endocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3498 . obo:DOID_7717 oboInOwl:hasDbXref "NCI:C37214"^^xsd:string, "UMLS_CUI:C1333081"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7717"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colloid carcinoma of the pancreas"^^xsd:string ; rdfs:subClassOf obo:DOID_4905 . obo:DOID_7718 oboInOwl:hasExactSynonym "Osteoclast-like Giant cell neoplasm of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7718"^^xsd:string ; a owl:Class ; rdfs:label "osteoclast-like giant cell neoplasm of the pancreas"^^xsd:string ; rdfs:subClassOf obo:DOID_3498 . obo:DOID_772 oboInOwl:hasExactSynonym "metastatic tumor to the Retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:772"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the retina"^^xsd:string ; owl:deprecated true . obo:DOID_7724 oboInOwl:hasAlternativeId "DOID:13426"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized convulsive epilepsy, with intractable epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7724"^^xsd:string ; a owl:Class ; rdfs:label "obsolete generalized convulsive epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_7725 obo:IAO_0000115 "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004830"^^xsd:string, "NCI:C3022"^^xsd:string, "SNOMEDCT_US_2021_03_01:352818000"^^xsd:string, "UMLS_CUI:C0014549"^^xsd:string ; oboInOwl:hasExactSynonym "Epileptic seizures, tonic-clonic"@en, "Grand Mal epilepsy"@en, "tonic-clonic epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7725"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "epilepsy with generalized tonic-clonic seizures"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705 . obo:DOID_7728 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7728"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic allograft arteriopathy"^^xsd:string ; owl:deprecated true . obo:DOID_7729 oboInOwl:hasDbXref "NCI:C5727"^^xsd:string, "SNOMEDCT_US_2021_03_01:128703004"^^xsd:string, "UMLS_CUI:C1266087"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic acinar cell cystadenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7729"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acinar cell cystadenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3111 . obo:DOID_773 oboInOwl:hasExactSynonym "metastatic tumor to the eye"@en, "secondary malignant neoplasm of eye (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:773"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to eye"^^xsd:string ; owl:deprecated true . obo:DOID_7731 oboInOwl:hasDbXref "NCI:C8090"^^xsd:string, "UMLS_CUI:C0279983"^^xsd:string ; oboInOwl:hasExactSynonym "malignant pediatric hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7731"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood malignant hemangiopericytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_264, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7732 oboInOwl:hasDbXref "NCI:C8094"^^xsd:string, "UMLS_CUI:C0279987"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7732"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood malignant schwannoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5940, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7733 oboInOwl:hasDbXref "NCI:C41619"^^xsd:string, "UMLS_CUI:C1519321"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "signet ring cell intrahepatic cholangiocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4928 . obo:DOID_7735 oboInOwl:hasDbXref "NCI:C5718"^^xsd:string, "UMLS_CUI:C1335309"^^xsd:string ; oboInOwl:hasExactSynonym "mucinous Cystadenoma of pancreas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7735"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic colloid cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3918 . obo:DOID_7736 oboInOwl:hasDbXref "ICD9CM:362.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:84884003"^^xsd:string, "UMLS_CUI:C0154835"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7736"^^xsd:string ; a owl:Class ; rdfs:label "retinal telangiectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2462 . obo:DOID_7739 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7740"^^xsd:string ; oboInOwl:hasExactSynonym "Condylomatous carcinoma of penis"@en, "HPV-Related Penile squamous cell carcinoma"@en, "penis warty carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "warty carcinoma of penis"@en ; oboInOwl:id "DOID:7739"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related penile squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_774 oboInOwl:hasDbXref "NCI:C4365"^^xsd:string, "SNOMEDCT_US_2021_03_01:232075002"^^xsd:string, "UMLS_CUI:C0339556"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of retina"@en, "Retinal Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:774"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retina lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_4645, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_7747 obo:IAO_0000115 "An extraocular retinoblastoma that effects children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9048"^^xsd:string, "UMLS_CUI:C1321870"^^xsd:string ; oboInOwl:hasExactSynonym "childhood Extraocular Retinoblastoma"@en, "pediatric extraocular retinoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7747"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood extraocular retinoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4656, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_775 oboInOwl:hasAlternativeId "DOID:7746"^^xsd:string ; oboInOwl:hasDbXref "MESH:D064090"^^xsd:string, "NCI:C9184"^^xsd:string, "UMLS_CUI:C0281658"^^xsd:string ; oboInOwl:hasExactSynonym "primary intraocular lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:775"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraocular lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6903 . obo:DOID_7750 obo:IAO_0000115 "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9372"^^xsd:string, "UMLS_CUI:C1332186"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult brain ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7497, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_7752 oboInOwl:hasDbXref "NCI:C7124"^^xsd:string, "UMLS_CUI:C1333511"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7752"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic biliary papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5468 . obo:DOID_7753 oboInOwl:hasExactSynonym "relapsed testicular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of testis"^^xsd:string ; owl:deprecated true . obo:DOID_7754 oboInOwl:hasExactSynonym "pulmonary Chondroid hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7754"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chondroid hamartoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_7756 obo:IAO_0000115 "A childhood leukemia that occurs during the neonatal period."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3845"^^xsd:string, "UMLS_CUI:C0235813"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_7757, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003623 ] . obo:DOID_7757 obo:IAO_0000115 "A leukemia that occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4989"^^xsd:string, "UMLS_CUI:C1332977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7757"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7762 obo:IAO_0000115 "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6566"^^xsd:string, "UMLS_CUI:C1332983"^^xsd:string ; oboInOwl:hasExactSynonym "childhood renal Wilms cancer"@en, "pediatric Multilocular cystic renal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "benign Multilocular cystic renal tumor"@en ; oboInOwl:id "DOID:7762"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood multilocular cystic kidney neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3116, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7763 oboInOwl:hasDbXref "NCI:C5973"^^xsd:string, "SNOMEDCT_US_2021_03_01:372105009"^^xsd:string, "UMLS_CUI:C1299240"^^xsd:string ; oboInOwl:hasExactSynonym "Supraglottic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carcinoma of supraglottis"^^xsd:string ; rdfs:subClassOf obo:DOID_13476 . obo:DOID_7764 oboInOwl:hasDbXref "NCI:C5972"^^xsd:string, "SNOMEDCT_US_2021_03_01:372104008"^^xsd:string, "UMLS_CUI:C1299239"^^xsd:string ; oboInOwl:hasExactSynonym "Subglottic carcinoma"@en, "carcinoma of subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7764"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11472 . obo:DOID_7765 oboInOwl:hasDbXref "GARD:6121"^^xsd:string, "ICD10CM:H35.02"^^xsd:string, "ICD9CM:362.12"^^xsd:string, "MESH:D058456"^^xsd:string, "OMIM:300216"^^xsd:string, "SNOMEDCT_US_2021_03_01:193359003"^^xsd:string, "UMLS_CUI:C0154832"^^xsd:string ; oboInOwl:hasExactSynonym "Coats' disease"@en, "Coats' syndrome"@en, "Exudative retinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7765"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Coats disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7736 . obo:DOID_778 obo:IAO_0000115 "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F22"^^xsd:string, "ICD9CM:297.1"^^xsd:string, "MESH:D012563"^^xsd:string, "NCI:C94379"^^xsd:string, "SNOMEDCT_US_2021_03_01:48500005"^^xsd:string, "UMLS_CUI:C0011251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:778"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "delusional disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2468, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_7786 oboInOwl:hasExactSynonym "mixed Choriocarcinoma and Embryonal carcinoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7786"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed choriocarcinoma and embryonal carcinoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_7787 obo:IAO_0000115 "A breast sarcoma that arises from bone."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5189"^^xsd:string, "UMLS_CUI:C1335149"^^xsd:string ; oboInOwl:hasExactSynonym "Osteogenic sarcoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7787"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3017 . obo:DOID_7788 oboInOwl:hasDbXref "NCI:C27399"^^xsd:string, "UMLS_CUI:C1332215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7788"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult spinal cord ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5503, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7793 obo:IAO_0000115 "A uterine Corpus sarcoma that has recurred after it has been treated."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed sarcoma of Uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7793"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent uterine sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7799 oboInOwl:hasExactSynonym "ureteral transitional cell carcinoma with glandular differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7799"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitional cell carcinoma of the ureter with glandular differentiation"^^xsd:string ; owl:deprecated true . obo:DOID_780 obo:IAO_0000115 "A uterine disease that is located_in the placenta."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1815"^^xsd:string, "DOID:5366"^^xsd:string, "DOID:9219"^^xsd:string ; oboInOwl:hasDbXref "GARD:7402"^^xsd:string, "ICD10CM:O43"^^xsd:string, "ICD9CM:646.9"^^xsd:string, "MESH:D010922"^^xsd:string, "MESH:D011248"^^xsd:string, "NCI:C26857"^^xsd:string, "NCI:C27619"^^xsd:string, "NCI:C34941"^^xsd:string, "NCI:C35169"^^xsd:string, "SNOMEDCT_US_2021_03_01:125586008"^^xsd:string, "SNOMEDCT_US_2021_03_01:172422001"^^xsd:string, "SNOMEDCT_US_2021_03_01:198881004"^^xsd:string, "UMLS_CUI:C0032045"^^xsd:string, "UMLS_CUI:C0032962"^^xsd:string, "UMLS_CUI:C0151864"^^xsd:string, "UMLS_CUI:C1335423"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:780"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placenta disease"^^xsd:string ; rdfs:subClassOf obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001987 ] ) ] . obo:DOID_7801 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7801"^^xsd:string ; a owl:Class ; rdfs:label "obsolete plasmacytoma-like PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_7805 oboInOwl:hasExactSynonym "Non-metastatic extraskeletal Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7805"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonmetastatic extraskeletal osteosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7806 oboInOwl:hasDbXref "NCI:C27183"^^xsd:string, "SNOMEDCT_US_2021_03_01:276829003"^^xsd:string, "UMLS_CUI:C0559185"^^xsd:string ; oboInOwl:hasExactSynonym "Glioblastoma multiforme of spinal cord"@en, "adult Spinal Cord Glioblastoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7806"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult spinal cord glioblastoma multiforme"^^xsd:string ; rdfs:subClassOf obo:DOID_3185, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7807 oboInOwl:hasDbXref "NCI:C6865"^^xsd:string, "UMLS_CUI:C1333026"^^xsd:string ; oboInOwl:hasExactSynonym "necrotic Choroid melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7807"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid necrotic melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_12759, obo:DOID_7808, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] . obo:DOID_7808 obo:IAO_0000115 "An uveal melanoma characterized by the presence of tumor cell necrosis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7990"^^xsd:string, "UMLS_CUI:C0279695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7808"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "necrotic uveal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6039 . obo:DOID_7809 oboInOwl:hasExactSynonym "Undifferentiated Giant cell carcinoma of the Thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7809"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic giant cell thyroid carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7810 obo:IAO_0000115 "An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "AIDS-related enterocolitis"@en ; oboInOwl:id "DOID:7810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related Cytomegalovirus enterocolitis"^^xsd:string ; owl:deprecated true . obo:DOID_7812 obo:IAO_0000115 "An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7812"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enterovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_7814 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasExactSynonym "CMV colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7814"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus colitis"^^xsd:string ; owl:deprecated true . obo:DOID_7815 oboInOwl:hasExactSynonym "Thymoma malignant recurrent"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant thymoma"^^xsd:string ; owl:deprecated true . obo:DOID_7817 oboInOwl:hasDbXref "NCI:C8272"^^xsd:string, "UMLS_CUI:C0280792"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed astrocytoma-ependymoma-oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5076 . obo:DOID_7818 oboInOwl:hasDbXref "NCI:C5278"^^xsd:string, "UMLS_CUI:C1335395"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7818"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "petroclival meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4437 . obo:DOID_7819 oboInOwl:hasDbXref "NCI:C5285"^^xsd:string, "UMLS_CUI:C1336040"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7819"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoorbital meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4437 . obo:DOID_782 oboInOwl:hasDbXref "ICD10CM:N15.9"^^xsd:string, "ICD9CM:590"^^xsd:string, "SNOMEDCT_US_2021_03_01:266618004"^^xsd:string, "UMLS_CUI:C0021313"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:782"^^xsd:string ; a owl:Class ; rdfs:label "renal infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_7820 oboInOwl:hasDbXref "NCI:C5313"^^xsd:string, "UMLS_CUI:C1336036"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenocavernous meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4437 . obo:DOID_7824 oboInOwl:hasDbXref "NCI:C5287"^^xsd:string, "UMLS_CUI:C1336051"^^xsd:string ; oboInOwl:hasExactSynonym "Multifocal Clear cell meningioma of Spine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7824"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal multifocal clear cell meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_7825 oboInOwl:hasDbXref "NCI:C35603"^^xsd:string, "UMLS_CUI:C1333048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7825"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic toxic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5221 . obo:DOID_7826 oboInOwl:hasDbXref "NCI:C8293"^^xsd:string, "UMLS_CUI:C0281334"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7826"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult papillary meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5058, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7827 obo:IAO_0000115 "An osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7925"^^xsd:string, "UMLS_CUI:C0278985"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7827"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult extraosseous osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3347, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_783 obo:IAO_0000115 "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:585.6"^^xsd:string ; oboInOwl:hasExactSynonym "end stage renal failure"@en, "end-stage kidney disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:783"^^xsd:string ; a owl:Class ; rdfs:label "end stage renal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_784 . obo:DOID_7833 obo:IAO_0000115 "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7833"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical papillary squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7834 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6371"^^xsd:string ; oboInOwl:hasExactSynonym "HPV-Related cervical carcinoma"@en, "HPV-Related cervical squamous cell carcinoma"@en, "human papilloma virus related cervical carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7834"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related cervical squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7836 oboInOwl:hasExactSynonym "mixed acinar-endocrine carcinoma"@en, "mixed acinar-endocrine carcinoma (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed acinar-endocrine carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7839 oboInOwl:hasDbXref "NCI:C40363"^^xsd:string, "UMLS_CUI:C1518329"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7839"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infiltrating nipple syringomatous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3003, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_784 obo:IAO_0000115 "A kidney failure that is characterized by the gradual loss of kidney function."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N18.9"^^xsd:string, "ICD9CM:585.6"^^xsd:string, "MESH:D007676"^^xsd:string, "NCI:C9438"^^xsd:string, "SNOMEDCT_US_2021_03_01:155856009"^^xsd:string, "UMLS_CUI:C0022661"^^xsd:string ; oboInOwl:hasExactSynonym "CKD"@en, "CRF"@en, "chronic kidney failure"@en, "chronic renal disease"@en, "chronic renal failure syndrome"@en, "renal failure - chronic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:784"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1074 . obo:DOID_7840 oboInOwl:hasDbXref "NCI:C28333"^^xsd:string, "UMLS_CUI:C1335311"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic non-functioning delta cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4433, obo:DOID_7698 . obo:DOID_7841 obo:IAO_0000115 "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C115203"^^xsd:string ; oboInOwl:hasExactSynonym "childhood cerebral ependymoblastoma"^^xsd:string, "pediatric cerebral ependymoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7841"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string ; rdfs:subClassOf obo:DOID_0080903, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_7843 obo:IAO_0000115 "A breast carcinoma that is manifested in the female breast."^^xsd:string ; oboInOwl:hasDbXref "NCI:C2918"^^xsd:string, "UMLS_CUI:C0007104"^^xsd:string ; oboInOwl:hasExactSynonym "Mammary carcinoma of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of female breast"@en ; oboInOwl:id "DOID:7843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "female breast carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_7847 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7847"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vascular hemorrhagic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_7848 obo:IAO_0000115 "A histiocytic and dendritic cell cancer that effect dendritic cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C96.4"^^xsd:string, "MESH:D054739"^^xsd:string, "NCI:C9282"^^xsd:string, "SNOMEDCT_US_2021_03_01:128815007"^^xsd:string, "UMLS_CUI:C1260326"^^xsd:string ; oboInOwl:hasExactSynonym "Interdigitating cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "interdigitating dendritic cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5621 . obo:DOID_7849 obo:IAO_0000115 "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27260"^^xsd:string, "SNOMEDCT_US_2021_03_01:397355008"^^xsd:string, "UMLS_CUI:C1301364"^^xsd:string ; oboInOwl:hasExactSynonym "Dendritic cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "follicular dendritic cell sarcoma"@en ; oboInOwl:id "DOID:7849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dendritic cell sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5621, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_7850 oboInOwl:hasExactSynonym "recurrent melanoma of Uvea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7850"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent uvea melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_7851 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:473418001"^^xsd:string, "UMLS_CUI:C1518868"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7851"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic intraductal papillary-mucinous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_7855 oboInOwl:hasExactSynonym "relapsed germ cell tumor of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7855"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent ovarian germ cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_786 oboInOwl:hasDbXref "ICD10CM:S12.8"^^xsd:string, "ICD9CM:478.70"^^xsd:string, "MESH:D007818"^^xsd:string, "NCI:C26810"^^xsd:string, "SNOMEDCT_US_2021_03_01:195863001"^^xsd:string, "UMLS_CUI:C0023051"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:786"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngeal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_974 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] ) ] . obo:DOID_7867 oboInOwl:hasDbXref "NCI:C5792"^^xsd:string, "UMLS_CUI:C1370504"^^xsd:string ; oboInOwl:hasExactSynonym "germinoma of the adult central nervous system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7867"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4438, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7868 oboInOwl:hasDbXref "NCI:C6840"^^xsd:string, "UMLS_CUI:C1334645"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the maxillary sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1358, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_7875 oboInOwl:hasDbXref "NCI:C27514"^^xsd:string, "UMLS_CUI:C1332220"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7875"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult xanthogranuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_4330, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7878 obo:IAO_0000115 "An atypical polypoid adenomyoma that is located_in the uterine corpus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40235"^^xsd:string, "UMLS_CUI:C1519844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7878"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus atypical polypoid adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4994 . obo:DOID_7880 obo:IAO_0000115 "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40445"^^xsd:string, "UMLS_CUI:C1517842"^^xsd:string ; oboInOwl:hasExactSynonym "leuteoma of pregnancy"@en, "luteoma of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7880"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "luteoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060112 . obo:DOID_789 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:789"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypotony of eye associated with another ocular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_7890 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7890"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular spermatocytic seminoma with sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_7891 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7891"^^xsd:string ; a owl:Class ; rdfs:label "testicular spermatocytic seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5834, obo:DOID_5842 . obo:DOID_7892 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7892"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast adenohibernoma"^^xsd:string ; owl:deprecated true . obo:DOID_7894 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B88.9"^^xsd:string, "ICD9CM:133"^^xsd:string, "MESH:D008924"^^xsd:string, "SNOMEDCT_US_2021_03_01:78166003"^^xsd:string, "UMLS_CUI:C0026229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7894"^^xsd:string ; a owl:Class ; rdfs:label "mite infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_790 oboInOwl:hasDbXref "ICD10CM:H44.4"^^xsd:string, "ICD9CM:360.3"^^xsd:string, "MESH:D015814"^^xsd:string, "NCI:C172147"^^xsd:string, "SNOMEDCT_US_2021_03_01:23670006"^^xsd:string, "UMLS_CUI:C0028841"^^xsd:string ; oboInOwl:hasExactSynonym "Hypotony of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:790"^^xsd:string ; a owl:Class ; rdfs:label "ocular hypotension"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_7902 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7902"^^xsd:string ; a owl:Class ; rdfs:label "adult extraosseous chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4549, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7903 oboInOwl:hasDbXref "NCI:C5462"^^xsd:string, "UMLS_CUI:C1334238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4549 . obo:DOID_7907 oboInOwl:hasDbXref "NCI:C8271"^^xsd:string, "UMLS_CUI:C0280791"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7907"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed astrocytoma-ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5076 . obo:DOID_791 oboInOwl:hasExactSynonym "Disorganized schizophrenia in remission (disorder)"@en, "Disorganized type schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:791"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_7910 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the maxillary sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6064"^^xsd:string, "UMLS_CUI:C1334647"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the Maxillofacial sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7910"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1357, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001764 ] . obo:DOID_7912 oboInOwl:hasDbXref "MESH:D009837"^^xsd:string, "NCI:C4050"^^xsd:string, "SNOMEDCT_US_2021_03_01:22217002"^^xsd:string, "UMLS_CUI:C0280793"^^xsd:string ; oboInOwl:hasExactSynonym "WHO grade II mixed glioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7912"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed oligodendroglioma-astrocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5076 . obo:DOID_7915 oboInOwl:hasDbXref "NCI:C5296"^^xsd:string, "UMLS_CUI:C1332916"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the cervical Spinal canal and Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7915"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_7919 oboInOwl:hasExactSynonym "Non-metastatic extraskeletal Ewing's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonmetastatic extra-osseous ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_792 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:792"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_7920 oboInOwl:hasExactSynonym "benign soft tissue tumor of CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7920"^^xsd:string ; a owl:Class ; rdfs:label "obsolete central nervous system benign soft tissue neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_7921 oboInOwl:hasDbXref "NCI:C6636"^^xsd:string, "UMLS_CUI:C1332513"^^xsd:string ; oboInOwl:hasExactSynonym "benign Psammomatous Schwannoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7921"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign mediastinal psammomatous neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7922 . obo:DOID_7922 oboInOwl:hasDbXref "NCI:C6625"^^xsd:string ; oboInOwl:hasExactSynonym "benign Schwannoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7922"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign mediastinal neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_955 . obo:DOID_7926 oboInOwl:hasDbXref "NCI:C7997"^^xsd:string, "SNOMEDCT_US_2021_03_01:128715000"^^xsd:string, "UMLS_CUI:C0279705"^^xsd:string ; oboInOwl:hasExactSynonym "Squamoid Thymoma"@en, "Thymoma, epithelial"@en, "Well differentiated thymic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7926"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelial malignant thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3282 . obo:DOID_7927 oboInOwl:hasDbXref "NCI:C7999"^^xsd:string, "SNOMEDCT_US_2021_03_01:128708008"^^xsd:string, "UMLS_CUI:C0279707"^^xsd:string ; oboInOwl:hasExactSynonym "Thymoma, medullary, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7927"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant type A thymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3279 . obo:DOID_7928 oboInOwl:hasDbXref "NCI:C9077"^^xsd:string, "UMLS_CUI:C1377904"^^xsd:string ; oboInOwl:hasExactSynonym "Refractory testicular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7928"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testis refractory cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5556 . obo:DOID_793 oboInOwl:hasExactSynonym "Schizophrenia in remission (disorder)"@en, "Unspecified schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:793"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_7930 oboInOwl:hasDbXref "NCI:C39926"^^xsd:string, "UMLS_CUI:C1515305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glandular-alveolar pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_7931 oboInOwl:hasExactSynonym "Old Burn Scar-Related squamous cell carcinoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7931"^^xsd:string ; a owl:Class ; rdfs:label "obsolete old burn scar-related squamous cell carcinoma of skin"^^xsd:string ; owl:deprecated true . obo:DOID_7933 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7933"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_7936 oboInOwl:hasDbXref "NCI:C8696"^^xsd:string, "UMLS_CUI:C0854859"^^xsd:string ; oboInOwl:hasExactSynonym "precursor T-lymphoblastic lymphoma/leukemia refractory"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "refractory T lymphoblastic leukemia/lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_712 . obo:DOID_7938 oboInOwl:hasExactSynonym "Dyschondroplasia"@en, "Dyschondroplasia (disorder)"@en, "Dyschondroplasia NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7938"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dyschondroplasia"^^xsd:string ; owl:deprecated true . obo:DOID_794 oboInOwl:hasExactSynonym "Residual schizophrenia in remission (disorder)"@en, "Residual schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:794"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_7941 oboInOwl:hasDbXref "NCI:C7027"^^xsd:string, "UMLS_CUI:C1332460"^^xsd:string ; oboInOwl:hasExactSynonym "Barrett adenocarcinoma"@en, "adenocarcinoma Arising in Barrett's Mucosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7941"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Barrett's adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4914 . obo:DOID_7945 obo:IAO_0000115 "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27402"^^xsd:string, "UMLS_CUI:C1332195"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7945"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult central nervous system mixed germ cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5349, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_7946 oboInOwl:hasExactSynonym "recurrent colon carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7946"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of colon"^^xsd:string ; owl:deprecated true . obo:DOID_7949 oboInOwl:hasDbXref "NCI:C42060"^^xsd:string, "UMLS_CUI:C1516761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "stroma-dominant and stroma-poor composite ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5193 . obo:DOID_795 oboInOwl:hasExactSynonym "Residual schizophrenia"@en, "Residual schizophrenia (disorder)"@en, "Residual schizophrenia, unspecified state"@en, "Residual type schizophrenic disorder"@en, "Restzustand, schizophrenic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:795"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual type schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_7951 oboInOwl:hasDbXref "NCI:C42059"^^xsd:string, "UMLS_CUI:C1516760"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7951"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5193 . obo:DOID_7953 obo:IAO_0000115 "A nipple carcinoma that is located_in the nipple duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27234"^^xsd:string, "UMLS_CUI:C1334967"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7953"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "nipple duct carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6629 . obo:DOID_7956 obo:IAO_0000115 "An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7828"^^xsd:string ; oboInOwl:hasExactSynonym "EBV Related Clonal PTLD"@en, "EBV-related PTLD"@en, "Epstein-Barr virus related posttransplantation lymphoproliferative disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7956"^^xsd:string ; a owl:Class ; rdfs:label "obsolete EBV-related posttransplantation lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_7958 oboInOwl:hasDbXref "NCI:C6984"^^xsd:string, "UMLS_CUI:C1335923"^^xsd:string ; oboInOwl:hasExactSynonym "sarcomatous carcinoma of the penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7958"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatoid penile squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5518 . obo:DOID_7959 oboInOwl:hasDbXref "NCI:C5731"^^xsd:string, "SNOMEDCT_US_2021_03_01:879992009"^^xsd:string, "UMLS_CUI:C1333321"^^xsd:string ; oboInOwl:hasExactSynonym "Gastrinoma of duodenum"@en, "duodenal G-cell gastrin producing tumor"@en, "malignant duodenal gastrinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7959"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenal gastrinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10021, obo:DOID_5577 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5577 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] ) ] . obo:DOID_7960 oboInOwl:hasDbXref "NCI:C5117"^^xsd:string, "SNOMEDCT_US_2021_03_01:403942003"^^xsd:string, "UMLS_CUI:C1266063"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Eccrine Spiradenoma"@en, "malignant eccrine spiradenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7960"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant spiradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4921 . obo:DOID_7961 obo:IAO_0000115 "A cervial squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40188"^^xsd:string, "UMLS_CUI:C1518366"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7961"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical non-keratinizing squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_7962 obo:IAO_0000115 "An endometrial disease that is caused by tamoxifen exposure."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40159"^^xsd:string, "UMLS_CUI:C1515212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7962"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tamoxifen-related endometrial lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_1005 . obo:DOID_7966 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7966"^^xsd:string ; a owl:Class ; rdfs:label "obsolete type 3 ALPS"^^xsd:string ; owl:deprecated true . obo:DOID_7967 oboInOwl:hasDbXref "NCI:C39828"^^xsd:string, "UMLS_CUI:C1512738"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7967"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipid-cell variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7968 oboInOwl:hasDbXref "NCI:C39823"^^xsd:string, "UMLS_CUI:C1512742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7968"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plasmacytoid variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7969 oboInOwl:hasDbXref "NCI:C39819"^^xsd:string, "UMLS_CUI:C1512741"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7969"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nested variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7971 oboInOwl:hasDbXref "NCI:C39820"^^xsd:string, "UMLS_CUI:C1512740"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7971"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microcystic variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7972 oboInOwl:hasDbXref "NCI:C39822"^^xsd:string, "UMLS_CUI:C1512739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7972"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoma-like variant infiltrating bladder urothelial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6477 . obo:DOID_7979 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete helicobacter pylori-related gastric adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_7983 obo:IAO_0000115 "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5180"^^xsd:string, "UMLS_CUI:C1334565"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Eccrine Spiradenoma of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7983"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast malignant eccrine spiradenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1612, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_7984 obo:IAO_0000115 "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27944"^^xsd:string, "UMLS_CUI:C1335932"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7984"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosing breast papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1626 . obo:DOID_7986 oboInOwl:hasDbXref "NCI:C5267"^^xsd:string, "UMLS_CUI:C1333597"^^xsd:string ; oboInOwl:hasExactSynonym "Falcine meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7986"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral falx meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4436 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006059 ] ) ] . obo:DOID_799 obo:IAO_0000115 "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I83.90"^^xsd:string, "MESH:D014648"^^xsd:string, "NCI:C35114"^^xsd:string, "OMIM:192200"^^xsd:string, "SNOMEDCT_US_2021_03_01:276504003"^^xsd:string, "UMLS_CUI:C0042345"^^xsd:string ; oboInOwl:hasExactSynonym "Varix"@en, "Venous ectasia"@en, "Venous varices"@en, "varices"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "varicose veins"^^xsd:string ; rdfs:subClassOf obo:DOID_866 . obo:DOID_7994 oboInOwl:hasDbXref "NCI:C7002"^^xsd:string, "UMLS_CUI:C1335150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7994"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central nervous system osteosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_502, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_7996 oboInOwl:hasDbXref "NCI:C5350"^^xsd:string, "UMLS_CUI:C1333987"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial glomangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_2436 . obo:DOID_7997 obo:IAO_0000115 "A thyroid gland disease that is characterized by excess thyroid hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E05.9"^^xsd:string, "ICD9CM:242"^^xsd:string, "MESH:D013971"^^xsd:string, "NCI:C61469"^^xsd:string, "SNOMEDCT_US_2021_03_01:154655004"^^xsd:string, "UMLS_CUI:C0040156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thyrotoxicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_7998 obo:IAO_0000115 "A thyroid gland disease that involves an over production of thyroid hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E05.9"^^xsd:string, "MESH:D006980"^^xsd:string, "NCI:C3123"^^xsd:string, "OMIM:603373"^^xsd:string, "OMIM:609152"^^xsd:string, "ORDO:99819"^^xsd:string, "SNOMEDCT_US_2021_03_01:190239004"^^xsd:string, "UMLS_CUI:C0020550"^^xsd:string ; oboInOwl:hasExactSynonym "overactive thyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:7998"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hyperthyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_50 ; skos:exactMatch "MESH:D006980"^^xsd:string . obo:DOID_8000 oboInOwl:hasDbXref "NCI:C5292"^^xsd:string, "UMLS_CUI:C1333643"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8000"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal convexity meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6114 . obo:DOID_8002 oboInOwl:hasDbXref "NCI:C6793"^^xsd:string, "SNOMEDCT_US_2021_03_01:126697005"^^xsd:string, "UMLS_CUI:C0345726"^^xsd:string ; oboInOwl:hasExactSynonym "Supraglottic tumor"@en, "neoplasm of supraglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "supraglottis neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2598 . obo:DOID_8003 oboInOwl:hasDbXref "NCI:C4140"^^xsd:string, "SNOMEDCT_US_2021_03_01:8097004"^^xsd:string, "UMLS_CUI:C0334303"^^xsd:string ; oboInOwl:hasExactSynonym "Alveolar adenoma"@en, "adenoma of alveoli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoma of the alveoli"@en ; oboInOwl:id "DOID:8003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alveoli adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3906, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002299 ] . obo:DOID_8004 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8004"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with prolactin secreting adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_8005 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8005"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with secondary pituitary-type tumor"^^xsd:string ; owl:deprecated true . obo:DOID_8006 oboInOwl:hasDbXref "NCI:C5277"^^xsd:string, "UMLS_CUI:C1335481"^^xsd:string ; oboInOwl:hasExactSynonym "primary meningioma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8006"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_8007 oboInOwl:hasAlternativeId "DOID:4485"^^xsd:string, "DOID:5762"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010178"^^xsd:string, "NCI:C27710"^^xsd:string, "NCI:C55815"^^xsd:string, "NCI:C7527"^^xsd:string, "SNOMEDCT_US_2021_03_01:269562004"^^xsd:string, "SNOMEDCT_US_2021_03_01:278065000"^^xsd:string, "UMLS_CUI:C0030271"^^xsd:string, "UMLS_CUI:C0549471"^^xsd:string, "UMLS_CUI:C1335574"^^xsd:string ; oboInOwl:hasExactSynonym "Pancoast tumour"@en, "Pancoast's syndrome"@en, "Pancoast's tumour"@en, "Superior pulmonary sulcus syndrome"@en, "malignant Superior Sulcus tumor"@en, "malignant Superior Sulcus tumour"@en, "pulmonary sulcus tumor"@en, "pulmonary sulcus tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8007"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pancoast tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_1324 . obo:DOID_8009 oboInOwl:hasDbXref "NCI:C39959"^^xsd:string, "UMLS_CUI:C1513369"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8009"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis mixed squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5518 . obo:DOID_801 oboInOwl:hasAlternativeId "DOID:12025"^^xsd:string, "DOID:13059"^^xsd:string, "DOID:13646"^^xsd:string, "DOID:13933"^^xsd:string, "DOID:14242"^^xsd:string, "DOID:800"^^xsd:string, "DOID:953"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M25.0"^^xsd:string, "ICD9CM:719.1"^^xsd:string, "MESH:D006395"^^xsd:string, "SNOMEDCT_US_2021_03_01:156581006"^^xsd:string, "UMLS_CUI:C0018924"^^xsd:string ; oboInOwl:hasExactSynonym "Haemarthrosis of shoulder joint"@en, "Haemarthrosis of the ankle and foot"@en, "Haemarthrosis of the pelvic region and thigh"@en, "Hemarthrosis involving ankle and foot"@en, "Hemarthrosis involving forearm"@en, "Hemarthrosis involving hand"@en, "Hemarthrosis involving lower leg"@en, "Hemarthrosis involving pelvic region and thigh"@en, "Hemarthrosis involving shoulder region"@en, "Hemarthrosis involving upper arm"@en, "Hemarthrosis of ankle and/or foot"@en, "Hemarthrosis of forearm"@en, "Hemarthrosis of hand"@en, "Hemarthrosis of lower leg"@en, "Hemarthrosis of shoulder"@en, "Hemarthrosis of shoulder region"@en, "Hemarthrosis of the ankle and foot"@en, "Hemarthrosis of the ankle and/or foot"@en, "Hemarthrosis of the forearm"@en, "Hemarthrosis of the hand"@en, "Hemarthrosis of the lower leg"@en, "Hemarthrosis of the pelvic region and thigh"@en, "Hemarthrosis of the shoulder region"@en, "Hemarthrosis of the upper arm"@en, "Hemarthrosis of upper arm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:801"^^xsd:string ; a owl:Class ; rdfs:label "hemarthrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_8011 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8011"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic fibrosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8012 oboInOwl:hasDbXref "NCI:C6744"^^xsd:string, "UMLS_CUI:C1334638"^^xsd:string ; oboInOwl:hasExactSynonym "Mature teratoma of Pericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8012"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign pericardial teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829, obo:DOID_0060091, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] . obo:DOID_8013 obo:IAO_0000115 "A papillary carcinoma that is located_in the penis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6983"^^xsd:string, "UMLS_CUI:C1335322"^^xsd:string ; oboInOwl:hasExactSynonym "squamous carcinoma of penis, Papillary type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis papillary carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5518 . obo:DOID_8014 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8014"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with corticotropin secreting adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_8016 oboInOwl:hasExactSynonym "anaplastic ganglioglioma"@en, "anaplastic ganglioglioma (morphologic abnormality)"@en, "ganglioglioma, anaplastic (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8016"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic ganglioglioma"^^xsd:string ; owl:deprecated true . obo:DOID_8018 oboInOwl:hasExactSynonym "regional Urothelial carcinoma of the renal Pelvis and Ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal pelvis and ureter regional transitional cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_8019 oboInOwl:hasExactSynonym "recurrent Urothelial carcinoma of the renal Pelvis and Ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal pelvis and ureter recurrent transitional cell cancer"^^xsd:string ; owl:deprecated true . obo:DOID_8020 oboInOwl:hasDbXref "NCI:C4223"^^xsd:string, "SNOMEDCT_US_2021_03_01:189745002"^^xsd:string, "UMLS_CUI:C0334422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8020"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glomangiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5238 . obo:DOID_8021 oboInOwl:hasExactSynonym "Parafollicular cell carcinoma with Amyloid Stroma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8021"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medullary carcinoma with amyloid stroma"^^xsd:string ; owl:deprecated true . obo:DOID_8022 obo:IAO_0000115 "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5832"^^xsd:string, "UMLS_CUI:C1333966"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_270 . obo:DOID_8023 obo:IAO_0000115 "A myxoid liposarcoma that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5235"^^xsd:string, "UMLS_CUI:C1335170"^^xsd:string ; oboInOwl:hasExactSynonym "Myxoid Liposarcoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8023"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxoid liposarcoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_5363, obo:DOID_5697 . obo:DOID_8024 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tuberculosis of male genital organs"@en ; oboInOwl:id "DOID:8024"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete male genital tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_8025 oboInOwl:hasDbXref "NCI:C5250"^^xsd:string, "UMLS_CUI:C1335965"^^xsd:string ; oboInOwl:hasExactSynonym "Signet Ring cell adenocarcinoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8025"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric signet ring cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6217 . obo:DOID_8026 oboInOwl:hasExactSynonym "gastric intestinal type adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8026"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal adenocarcinoma of the stomach"^^xsd:string ; owl:deprecated true . obo:DOID_8029 obo:IAO_0000115 "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7566"^^xsd:string, "UMLS_CUI:C1336076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sporadic breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_8030 oboInOwl:hasDbXref "NCI:C6777"^^xsd:string, "UMLS_CUI:C1335383"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periocular meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_8031 oboInOwl:hasDbXref "NCI:C6756"^^xsd:string, "UMLS_CUI:C1335418"^^xsd:string ; oboInOwl:hasExactSynonym "Pineal meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pineal region meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_5032 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001905 ] ) ] . obo:DOID_8036 obo:IAO_0000115 "An ovarian embryonal carcinoma that occurs in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6546"^^xsd:string, "UMLS_CUI:C1332989"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric Embryonal carcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "childhood embryonal carcinoma of the ovary"@en ; oboInOwl:id "DOID:8036"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood ovarian embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5681, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_8042 oboInOwl:hasDbXref "NCI:C40962"^^xsd:string, "UMLS_CUI:C1514200"^^xsd:string ; oboInOwl:hasExactSynonym "Polyembryoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testis polyembryoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5556 . obo:DOID_8043 oboInOwl:hasDbXref "NCI:C6720"^^xsd:string, "UMLS_CUI:C1332934"^^xsd:string ; oboInOwl:hasExactSynonym "Parachordoma of the Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8043"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chest wall parachordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3350, obo:DOID_6758, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0008019 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] . obo:DOID_8045 oboInOwl:hasExactSynonym "recurrent prostate carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cancer of prostate"^^xsd:string ; owl:deprecated true . obo:DOID_8050 oboInOwl:hasDbXref "NCI:C39847"^^xsd:string, "UMLS_CUI:C1511203"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8050"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder tubulo-cystic clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5306 . obo:DOID_8051 oboInOwl:hasDbXref "NCI:C39848"^^xsd:string, "UMLS_CUI:C1511196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8051"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder papillary clear cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5306 . obo:DOID_8055 obo:IAO_0000115 "A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body."^^xsd:string ; oboInOwl:hasExactSynonym "relapsed urethra carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8055"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent urethral cancer"^^xsd:string ; owl:deprecated true . obo:DOID_8057 oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C6771"^^xsd:string, "UMLS_CUI:C1335107"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Olfactory Groove"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8057"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "olfactory groove meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4436 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002772 ] ) ] . obo:DOID_8058 oboInOwl:hasDbXref "NCI:C5311"^^xsd:string, "UMLS_CUI:C1335422"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Pituitary Stalk"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8058"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary stalk meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565, obo:DOID_3643 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002434 ] ) ] . obo:DOID_8060 oboInOwl:hasDbXref "NCI:C6842"^^xsd:string, "UMLS_CUI:C1333644"^^xsd:string ; oboInOwl:hasExactSynonym "Inverted papilloma of the Frontal sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinus inverted papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1361, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_8068 obo:IAO_0000115 "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40387"^^xsd:string, "UMLS_CUI:C1512935"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8068"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intraductal breast myoepitheliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_7521 . obo:DOID_807 oboInOwl:hasDbXref "ICD9CM:433.10"^^xsd:string, "UMLS_CUI:C0375275"^^xsd:string ; oboInOwl:hasExactSynonym "Occlusion and stenosis of carotid artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:807"^^xsd:string ; a owl:Class ; rdfs:label "carotid artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_3407, obo:DOID_5976 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5976 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005396 ] ) ] . obo:DOID_8072 oboInOwl:hasDbXref "NCI:C41620"^^xsd:string, "UMLS_CUI:C1519184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcomatous intrahepatic cholangiocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4928 . obo:DOID_8078 oboInOwl:hasDbXref "NCI:C27406"^^xsd:string, "UMLS_CUI:C1332953"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8078"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood central nervous system germinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4438, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_8079 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8079"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monomorphic T-cell PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_8080 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8080"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei"^^xsd:string ; owl:deprecated true . obo:DOID_8081 oboInOwl:hasDbXref "NCI:C39929"^^xsd:string, "UMLS_CUI:C1515309"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myxomatous pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_8082 oboInOwl:hasDbXref "NCI:C39815"^^xsd:string, "UMLS_CUI:C1516474"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8082"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular congenital mesoblastic nephroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4773, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_8083 oboInOwl:hasDbXref "NCI:C39814"^^xsd:string, "UMLS_CUI:C1516475"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8083"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "classic congenital mesoblastic nephroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4773, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_8084 obo:IAO_0000115 "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8084"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical squamotransitional carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_8087 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8087"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with sebaceous carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_8089 oboInOwl:hasExactSynonym "Advanced adult primary Hepatocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8089"^^xsd:string ; a owl:Class ; rdfs:label "obsolete advanced adult primary hepatoma"^^xsd:string ; owl:deprecated true . obo:DOID_809 obo:IAO_0000115 "A substance abuse that involves the recurring use of cocaine despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F14.1"^^xsd:string, "ICD9CM:305.6"^^xsd:string, "MESH:D019970"^^xsd:string, "SNOMEDCT_US_2021_03_01:78267003"^^xsd:string, "UMLS_CUI:C0009171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:809"^^xsd:string ; a owl:Class ; rdfs:label "cocaine abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_8093 oboInOwl:hasDbXref "NCI:C6839"^^xsd:string, "UMLS_CUI:C1334646"^^xsd:string ; oboInOwl:hasExactSynonym "Schneiderian papilloma of the maxillary sinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8093"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus Schneiderian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1358 . obo:DOID_8094 obo:IAO_0000115 "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix."^^xsd:string ; oboInOwl:hasExactSynonym "cervical Warty squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8094"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical condylomatous squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_8096 oboInOwl:hasDbXref "NCI:C39839"^^xsd:string, "UMLS_CUI:C1511192"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8096"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder mixed adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_8097 oboInOwl:hasDbXref "NCI:C39838"^^xsd:string, "UMLS_CUI:C1511189"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8097"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder hepatoid adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3711 . obo:DOID_810 obo:IAO_0000115 "A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:810"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete HIV-associated lipodystrophy syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_8102 oboInOwl:hasDbXref "NCI:C4160"^^xsd:string, "SNOMEDCT_US_2021_03_01:30301008"^^xsd:string, "UMLS_CUI:C0334328"^^xsd:string ; oboInOwl:hasExactSynonym "Microfollicular adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8102"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6204 . obo:DOID_8104 obo:IAO_0000115 "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40258"^^xsd:string, "UMLS_CUI:C1519933"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8104"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal tubulovillous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5402 . obo:DOID_8105 oboInOwl:hasDbXref "NCI:C5851"^^xsd:string, "UMLS_CUI:C1333504"^^xsd:string ; oboInOwl:hasExactSynonym "Cystadenoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8105"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct cystadenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5384, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_8106 oboInOwl:hasDbXref "NCI:C41237"^^xsd:string, "UMLS_CUI:C1516553"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cellular phase chronic idiopathic myelofibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4971 . obo:DOID_8107 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete S-T syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_8108 oboInOwl:hasDbXref "NCI:C6170"^^xsd:string, "UMLS_CUI:C1336884"^^xsd:string ; oboInOwl:hasExactSynonym "urethral Fibroepithelial polyp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8108"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibroepithelial polyp of urethra"^^xsd:string ; rdfs:subClassOf obo:DOID_6873, obo:DOID_732, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_8109 oboInOwl:hasDbXref "NCI:C7416"^^xsd:string, "UMLS_CUI:C1336889"^^xsd:string ; oboInOwl:hasExactSynonym "Nephrogenic adenoma of urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8109"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrogenic adenoma of the urethra"^^xsd:string ; rdfs:subClassOf obo:DOID_730, obo:DOID_7334, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7334 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] ) ] . obo:DOID_811 obo:IAO_0000115 "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.1"^^xsd:string, "ICD9CM:272.6"^^xsd:string, "MESH:D008060"^^xsd:string, "NCI:C97093"^^xsd:string, "SNOMEDCT_US_2021_03_01:190789006"^^xsd:string, "UMLS_CUI:C0023787"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:811"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_8110 oboInOwl:hasDbXref "NCI:C27322"^^xsd:string, "UMLS_CUI:C1335377"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periampullary adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3502 . obo:DOID_8115 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood cerebral astrocytoma"^^xsd:string ; owl:deprecated true . obo:DOID_8117 obo:IAO_0000115 "A central nervous system disease that is characterized by neuron inflammation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C34847"^^xsd:string, "UMLS_CUI:C0027881"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuronitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_8118 obo:IAO_0000115 "A mature teratoma that has_material_basis in gastric tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5260"^^xsd:string, "UMLS_CUI:C1334635"^^xsd:string ; oboInOwl:hasExactSynonym "Mature teratoma of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mature gastric teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5561 . obo:DOID_8119 oboInOwl:hasDbXref "NCI:C7477"^^xsd:string, "SNOMEDCT_US_2021_03_01:236811000119101"^^xsd:string, "UMLS_CUI:C1332261"^^xsd:string ; oboInOwl:hasExactSynonym "Paget's disease of the anal canal"@en, "anal canal Paget disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Paget's disease of anal canal"@en ; oboInOwl:id "DOID:8119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal canal Paget's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3692 . obo:DOID_8120 oboInOwl:hasExactSynonym "adenocarcinoma in villous adenoma (morphologic abnormality)"@en, "villous adenoma or adenocarcinoma NOS (morphologic abnormality)"@en, "villous adenomas and adenocarcinomas (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8120"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenocarcinoma in villous adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_8121 oboInOwl:hasExactSynonym "metastatic extraskeletal Ewing's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic extra-osseous Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8122 oboInOwl:hasDbXref "NCI:C27542"^^xsd:string, "UMLS_CUI:C1335974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8122"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudovascular skin squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_8125 obo:IAO_0000115 "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7490"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M92"^^xsd:string, "ICD10CM:M93.9"^^xsd:string, "ICD9CM:732.6"^^xsd:string, "MESH:D055034"^^xsd:string, "NCI:C34879"^^xsd:string, "SNOMEDCT_US_2021_03_01:203398006"^^xsd:string, "SNOMEDCT_US_2021_03_01:65477003"^^xsd:string, "UMLS_CUI:C0029429"^^xsd:string, "UMLS_CUI:C0158445"^^xsd:string ; oboInOwl:hasExactSynonym "Epiphyseal necrosis"@en, "Osteochondrosis"@en, "apophysitis"@en, "epiphysitis"@en, "osteochondritis"@en, "osteochondritis juvenilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteochondrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_813 obo:IAO_0000115 "An arthritis that involves infection by a pathogen located_in joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10920"^^xsd:string, "DOID:12314"^^xsd:string, "DOID:14519"^^xsd:string, "DOID:1683"^^xsd:string, "DOID:2002"^^xsd:string, "DOID:2003"^^xsd:string, "DOID:812"^^xsd:string ; oboInOwl:hasDbXref "GARD:6781"^^xsd:string, "ICD10CM:M00"^^xsd:string, "ICD9CM:711.90"^^xsd:string, "ICD9CM:711.91"^^xsd:string, "ICD9CM:711.92"^^xsd:string, "ICD9CM:711.93"^^xsd:string, "ICD9CM:711.94"^^xsd:string, "ICD9CM:711.95"^^xsd:string, "ICD9CM:711.96"^^xsd:string, "ICD9CM:711.97"^^xsd:string, "MESH:D001170"^^xsd:string, "NCI:C26700"^^xsd:string, "SNOMEDCT_US_2021_03_01:201594004"^^xsd:string, "SNOMEDCT_US_2021_03_01:201595003"^^xsd:string, "SNOMEDCT_US_2021_03_01:201596002"^^xsd:string, "SNOMEDCT_US_2021_03_01:201597006"^^xsd:string, "SNOMEDCT_US_2021_03_01:201598001"^^xsd:string, "SNOMEDCT_US_2021_03_01:201599009"^^xsd:string, "SNOMEDCT_US_2021_03_01:372938004"^^xsd:string, "SNOMEDCT_US_2021_03_01:428437005"^^xsd:string, "UMLS_CUI:C0003869"^^xsd:string, "UMLS_CUI:C0157843"^^xsd:string, "UMLS_CUI:C0157844"^^xsd:string, "UMLS_CUI:C0157845"^^xsd:string, "UMLS_CUI:C0157846"^^xsd:string, "UMLS_CUI:C0157847"^^xsd:string, "UMLS_CUI:C0157848"^^xsd:string, "UMLS_CUI:C0157849"^^xsd:string ; oboInOwl:hasExactSynonym "infectious arthritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "septic arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_8130 obo:IAO_0000115 "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40355"^^xsd:string, "UMLS_CUI:C1511305"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast columnar cell mucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3610 . obo:DOID_8131 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8131"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia"^^xsd:string ; owl:deprecated true . obo:DOID_8133 oboInOwl:hasAlternativeId "DOID:8132"^^xsd:string, "DOID:8896"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C10.1"^^xsd:string, "ICD9CM:146.4"^^xsd:string, "NCI:C35697"^^xsd:string, "NCI:C4836"^^xsd:string, "SNOMEDCT_US_2021_03_01:187849008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93670003"^^xsd:string, "UMLS_CUI:C0496765"^^xsd:string, "UMLS_CUI:C0585946"^^xsd:string, "UMLS_CUI:C1112382"^^xsd:string ; oboInOwl:hasExactSynonym "epiglottic cancer"@en, "malignant tumor of Epiglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8133"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epiglottis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_13476 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000388 ] ) ] . obo:DOID_8135 oboInOwl:hasDbXref "NCI:C5734"^^xsd:string, "UMLS_CUI:C1333748"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8135"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_8136 oboInOwl:hasExactSynonym "ureteral transitional cell carcinoma with mixed differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8136"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitional cell carcinoma of the ureter with mixed differentiation"^^xsd:string ; owl:deprecated true . obo:DOID_8137 oboInOwl:hasDbXref "NCI:C6462"^^xsd:string, "UMLS_CUI:C1333069"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell carcinoma of the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8137"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus clear cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3284 . obo:DOID_8138 oboInOwl:hasDbXref "NCI:C6463"^^xsd:string, "UMLS_CUI:C1335924"^^xsd:string ; oboInOwl:hasExactSynonym "Thymic Carcinosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus sarcomatoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3284, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002370 ] . obo:DOID_8140 oboInOwl:hasDbXref "NCI:C7646"^^xsd:string, "UMLS_CUI:C1332176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal gland ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3953 . obo:DOID_8144 oboInOwl:hasDbXref "NCI:C37204"^^xsd:string, "UMLS_CUI:C1333038"^^xsd:string ; oboInOwl:hasExactSynonym "CLL/SLL with Unmutated IGVH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8144"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6354 . obo:DOID_8145 oboInOwl:hasExactSynonym "metastatic tumor to the gallbladder"@en, "secondary malignant neoplasm of gallbladder (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm to the gallbladder"^^xsd:string ; owl:deprecated true . obo:DOID_8146 oboInOwl:hasExactSynonym "Undifferentiated secondary Supratentorial astrocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8146"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anaplastic secondary supratentorial astrocytic neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_8148 oboInOwl:hasExactSynonym "recurrent childhood malignant germ cell neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8148"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent childhood malignant germ cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_8149 oboInOwl:hasDbXref "NCI:C6541"^^xsd:string, "UMLS_CUI:C1334574"^^xsd:string ; oboInOwl:hasExactSynonym "malignant pediatric germ cell tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8149"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant childhood germ cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_6053, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_8150 oboInOwl:hasDbXref "NCI:C5726"^^xsd:string, "SNOMEDCT_US_2021_03_01:780821007"^^xsd:string, "UMLS_CUI:C1518871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8150"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancreatic invasive intraductal papillary-mucinous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_7574 . obo:DOID_8151 oboInOwl:hasDbXref "NCI:C27445"^^xsd:string, "UMLS_CUI:C3274138"^^xsd:string ; oboInOwl:hasExactSynonym "appendiceal L-cell glucagon-like peptide producing tumour"@en, "malignant appendiceal L-cell glucagon-like peptide producing tumor"@en, "malignant appendiceal L-cell glucagon-like peptide producing tumour"@en, "malignant appendiceal glucagonoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendiceal L-cell glucagon-like peptide producing tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_11239 . obo:DOID_8152 oboInOwl:hasExactSynonym "adenocarcinoma of the Distal 1/3 of the Common bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8152"^^xsd:string ; a owl:Class ; rdfs:label "obsolete distal 1/3 of common bile duct adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_8153 oboInOwl:hasDbXref "NCI:C6573"^^xsd:string, "UMLS_CUI:C1333612"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroosseous Digital Pseudotumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8153"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibroosseous pseudotumor of digits"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_8158 obo:IAO_0000115 "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9469"^^xsd:string, "OMIM:609536"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasExactSynonym "C5 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8158"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "complement component 5 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_8160 obo:IAO_0000115 "A desmoplastic small round-cell tumor that primarily is located_in the abdomen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8160"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adult desmoplastic small round cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_8161 obo:IAO_0000115 "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536913"^^xsd:string, "NCI:C4946"^^xsd:string, "OMIM:607464"^^xsd:string, "SNOMEDCT_US_2021_03_01:423158009"^^xsd:string, "UMLS_CUI:C0749424"^^xsd:string ; oboInOwl:hasExactSynonym "oncocytic carcinoma of the thyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8161"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thyroid gland Hurthle cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3962 . obo:DOID_8162 oboInOwl:hasDbXref "NCI:C6042"^^xsd:string, "UMLS_CUI:C1336750"^^xsd:string ; oboInOwl:hasExactSynonym "benign oncocytoma of the thyroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8162"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid Hurthle cell adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6204 . obo:DOID_8163 oboInOwl:hasExactSynonym "gallbladder carcinoma Unresectable"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gallbladder cancer unresectable"^^xsd:string ; owl:deprecated true . obo:DOID_8167 oboInOwl:hasDbXref "NCI:C5735"^^xsd:string, "UMLS_CUI:C1333749"^^xsd:string ; oboInOwl:hasExactSynonym "malignant melanoma of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8167"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_3121, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_817 oboInOwl:hasDbXref "NCI:C35786"^^xsd:string, "SNOMEDCT_US_2021_03_01:37925008"^^xsd:string, "UMLS_CUI:C0027060"^^xsd:string ; oboInOwl:hasExactSynonym "Interstitial myocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "interstitial myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_820 . obo:DOID_8170 oboInOwl:hasDbXref "NCI:C5604"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroepithelial polyp of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8170"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibroepithelial polyp of the anus"^^xsd:string ; rdfs:subClassOf obo:DOID_3128, obo:DOID_6873, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] . obo:DOID_8177 obo:IAO_0000115 "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40232"^^xsd:string, "UMLS_CUI:C1516405"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8177"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocervical type cervical adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4995 . obo:DOID_8178 obo:IAO_0000115 "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40233"^^xsd:string, "UMLS_CUI:C1516406"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8178"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial type cervical adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4995 . obo:DOID_8179 obo:IAO_0000115 "A cervical adenomyoma that is aumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40234"^^xsd:string, "UMLS_CUI:C1516409"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8179"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical atypical polypoid adenomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4995 . obo:DOID_8186 obo:IAO_0000115 "A gestational choriocarcinoma that is located_in the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6278"^^xsd:string, "UMLS_CUI:C1333593"^^xsd:string ; oboInOwl:hasExactSynonym "Gestational Choriocarcinoma of the fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8186"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube gestational choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1963, obo:DOID_2025 . obo:DOID_8187 obo:IAO_0000115 "A gestational choriocarcinoma that is located_in the uterine corpus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8187"^^xsd:string ; a owl:Class ; rdfs:label "gestational uterine corpus choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2025, obo:DOID_8188 . obo:DOID_8188 obo:IAO_0000115 "A choriocarcinoma that is located_in the uterine corpus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27246"^^xsd:string, "UMLS_CUI:C1336904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8188"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus choriocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3594, obo:DOID_9460 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3594 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] ) ] . obo:DOID_819 obo:IAO_0000115 "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.51"^^xsd:string, "ICD9CM:519.2"^^xsd:string, "MESH:D008480"^^xsd:string, "NCI:C26827"^^xsd:string, "SNOMEDCT_US_2021_03_01:47597000"^^xsd:string, "UMLS_CUI:C0025064"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:819"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_8192 oboInOwl:hasExactSynonym "recurrent Vulvar carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8192"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent vulva cancer"^^xsd:string ; owl:deprecated true . obo:DOID_8193 oboInOwl:hasDbXref "NCI:C39928"^^xsd:string, "UMLS_CUI:C1515310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "papillary pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_8194 oboInOwl:hasExactSynonym "recurrent pediatric Hepatocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8194"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent pediatric hepatoma"^^xsd:string ; owl:deprecated true . obo:DOID_8195 oboInOwl:hasDbXref "NCI:C39931"^^xsd:string, "UMLS_CUI:C1515306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoid pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_8197 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8197"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian dermoid cyst with melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_8199 oboInOwl:hasExactSynonym "Syphilis of synovium, tendon or bursa (disorder)"@en, "Syphilis of synovium, tendon or bursa NOS (disorder)"@en, "Syphilis of synovium, tendon, and bursa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8199"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete bursa syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_82 obo:IAO_0000115 "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:366.43"^^xsd:string, "NCI:C34833"^^xsd:string, "SNOMEDCT_US_2021_03_01:64741003"^^xsd:string, "UMLS_CUI:C0027128"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:82"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myotonic cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_820 obo:IAO_0000115 "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:7137"^^xsd:string, "ICD10CM:I51.4"^^xsd:string, "ICD9CM:429.0"^^xsd:string, "KEGG:05416"^^xsd:string, "MESH:D009205"^^xsd:string, "NCI:C34831"^^xsd:string, "SNOMEDCT_US_2021_03_01:50920009"^^xsd:string, "UMLS_CUI:C0027059"^^xsd:string ; oboInOwl:hasExactSynonym "Myocardial inflammation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3978 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002349 ] ) ] ) ] ; skos:exactMatch "MESH:D009205"^^xsd:string . obo:DOID_8200 obo:IAO_0000115 "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A52"^^xsd:string, "ICD9CM:097.0"^^xsd:string, "MESH:C536774"^^xsd:string, "NCI:C128414"^^xsd:string, "SNOMEDCT_US_2021_03_01:72083004"^^xsd:string, "UMLS_CUI:C0153188"^^xsd:string ; oboInOwl:hasExactSynonym "late syphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "tertiary syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_4166, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_8203 oboInOwl:hasDbXref "NCI:C5299"^^xsd:string, "UMLS_CUI:C1335893"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Sacral Spinal canal and Spinal Cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sacral spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140 . obo:DOID_8205 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8205"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alloimmunization"^^xsd:string ; owl:deprecated true . obo:DOID_8207 oboInOwl:hasDbXref "NCI:C7454"^^xsd:string, "UMLS_CUI:C1334445"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hilar lung carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905, obo:DOID_7696, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004886 ] . obo:DOID_8208 oboInOwl:hasDbXref "NCI:C7779"^^xsd:string, "UMLS_CUI:C1336529"^^xsd:string ; oboInOwl:hasExactSynonym "Superior Sulcus carcinoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "superior sulcus carcinoma of lung"@en ; oboInOwl:id "DOID:8208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung superior sulcus carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8007 . obo:DOID_8211 obo:IAO_0000115 "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40114"^^xsd:string, "UMLS_CUI:C1517111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube cystadenofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_5478 . obo:DOID_8216 oboInOwl:hasDbXref "NCI:C5303"^^xsd:string, "UMLS_CUI:C5421232"^^xsd:string ; oboInOwl:hasExactSynonym "Primary Parapharyngeal Meningioma" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8216"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parapharyngeal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_8219 oboInOwl:hasExactSynonym "relapsed epithelioid sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8219"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent epithelioid sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8220 oboInOwl:hasExactSynonym "recurrent extraskeletal Ewing's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8220"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent extraosseous Ewing's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8221 oboInOwl:hasDbXref "NCI:C5290"^^xsd:string, "UMLS_CUI:C1336871"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the Upper Clivus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8221"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "upper clivus meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6517 . obo:DOID_8222 oboInOwl:hasExactSynonym "adenocarcinoma in tubular adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8222"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenocarcinoma in tubular adenoma"^^xsd:string ; owl:deprecated true . obo:DOID_8223 oboInOwl:hasDbXref "NCI:C39868"^^xsd:string, "UMLS_CUI:C1518950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penile urethral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_736 . obo:DOID_8224 obo:IAO_0000115 "A breast duct papilloma that is located_in a major duct."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8226"^^xsd:string ; oboInOwl:hasDbXref "NCI:C36087"^^xsd:string, "UMLS_CUI:C1332896"^^xsd:string ; oboInOwl:hasExactSynonym "large duct breast papilloma"@en, "solitary intraductal breast papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "central breast papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1626 . obo:DOID_8225 oboInOwl:hasDbXref "NCI:C36088"^^xsd:string, "UMLS_CUI:C1335390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8225"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microscopic breast papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1626 . obo:DOID_8227 obo:IAO_0000115 "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36089"^^xsd:string, "UMLS_CUI:C1332346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8227"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical breast papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1626 . obo:DOID_8228 oboInOwl:hasExactSynonym "metastatic extraskeletal Osteogenic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic extraskeletal osteosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8229 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8229"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic small intestinal adenocarcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_823 oboInOwl:hasDbXref "ICD10CM:K04.5"^^xsd:string, "MESH:D010485"^^xsd:string, "SNOMEDCT_US_2021_03_01:39273001"^^xsd:string, "UMLS_CUI:C0031030"^^xsd:string ; oboInOwl:hasExactSynonym "Apical periodontitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:823"^^xsd:string ; a owl:Class ; rdfs:label "periapical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_824 . obo:DOID_8230 oboInOwl:hasDbXref "NCI:C7125"^^xsd:string, "UMLS_CUI:C1334258"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intrahepatic biliary papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5468 . obo:DOID_8233 oboInOwl:hasDbXref "NCI:C6508"^^xsd:string, "SNOMEDCT_US_2021_03_01:28655007"^^xsd:string, "UMLS_CUI:C1370890"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory liposarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8233"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inflammatory liposarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5690 . obo:DOID_8234 oboInOwl:hasExactSynonym "relapsed malignant hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8234"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant hemangiopericytoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_8238 oboInOwl:hasExactSynonym "stage IV cancer of Uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic endometrial carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_8239 oboInOwl:hasDbXref "NCI:C5288"^^xsd:string, "UMLS_CUI:C1334434"^^xsd:string ; oboInOwl:hasExactSynonym "meningioma of the lower Clivus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lower clivus meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_6517 . obo:DOID_824 oboInOwl:hasDbXref "EFO:0000649"^^xsd:string, "ICD10CM:K05.3"^^xsd:string, "MESH:D010518"^^xsd:string, "NCI:C34918"^^xsd:string, "SNOMEDCT_US_2021_03_01:266491004"^^xsd:string, "UMLS_CUI:C0031099"^^xsd:string ; oboInOwl:hasExactSynonym "chronic pericementitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:824"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3388 . obo:DOID_8243 oboInOwl:hasDbXref "NCI:C6891"^^xsd:string, "SNOMEDCT_US_2021_03_01:128731008"^^xsd:string, "UMLS_CUI:C1266114"^^xsd:string ; oboInOwl:hasExactSynonym "Leptomeningeal melanomatosis"@en, "Meningeal melanomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningeal melanomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4955 . obo:DOID_8244 oboInOwl:hasExactSynonym "recurrent Neuroepithelioma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8244"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone recurrent PNET"^^xsd:string ; owl:deprecated true . obo:DOID_8246 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8246"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast myoid hamartoma"^^xsd:string ; owl:deprecated true . obo:DOID_8251 oboInOwl:hasDbXref "ICDO:8901/3"^^xsd:string, "NCI:C27369"^^xsd:string, "SNOMEDCT_US_2021_03_01:77455004"^^xsd:string, "UMLS_CUI:C1332211"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8251"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult pleomorphic rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3250, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_8252 obo:IAO_0000115 "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J31.0"^^xsd:string, "ICD9CM:472.0"^^xsd:string, "NCI:C34479"^^xsd:string, "SNOMEDCT_US_2021_03_01:155522005"^^xsd:string, "UMLS_CUI:C0008711"^^xsd:string ; oboInOwl:hasExactSynonym "Rhinitis - chronic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic rhinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4483, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_8255 oboInOwl:hasDbXref "NCI:C6857"^^xsd:string, "UMLS_CUI:C1336978"^^xsd:string ; oboInOwl:hasExactSynonym "Vulval Fibroepithelial polyp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8255"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vulva fibroepithelial polyp"^^xsd:string ; rdfs:subClassOf obo:DOID_2059, obo:DOID_6873, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] . obo:DOID_8256 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8256"^^xsd:string ; a owl:Class ; rdfs:label "olfactory neural tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_366 . obo:DOID_8257 oboInOwl:hasExactSynonym "ureteral transitional cell carcinoma with squamous differentiation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitional cell carcinoma of the ureter with squamous differentiation"^^xsd:string ; owl:deprecated true . obo:DOID_8259 oboInOwl:hasDbXref "NCI:C39869"^^xsd:string, "UMLS_CUI:C1511339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bulbomembranous urethral cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_736 . obo:DOID_8269 oboInOwl:hasExactSynonym "adenocarcinoma in adenomatous polyposis Coli"@en, "adenocarcinoma in adenomatous polyposis coli (morphologic abnormality)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8269"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenocarcinoma in adenomatous polyposis coli"^^xsd:string ; owl:deprecated true . obo:DOID_827 obo:IAO_0000115 "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:016.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:81359005"^^xsd:string, "UMLS_CUI:C0152800"^^xsd:string ; oboInOwl:hasExactSynonym "tuberculosis of ureter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:827"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "ureter tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] . obo:DOID_8272 obo:IAO_0000115 "A female urethral cancer located_in the anterior urethra."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7641"^^xsd:string, "UMLS_CUI:C0279930"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior urethral malignant tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anterior urethra cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_738 . obo:DOID_8274 oboInOwl:hasDbXref "NCI:C6525"^^xsd:string, "UMLS_CUI:C1336546"^^xsd:string ; oboInOwl:hasExactSynonym "hemangioma of Synovium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8274"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "synovial angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007616 ] . obo:DOID_8275 obo:IAO_0000115 "An embryonal testis carcinoma that is located within a tubule."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7325"^^xsd:string, "UMLS_CUI:C1336096"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intratubular embryonal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5680 . obo:DOID_8276 oboInOwl:hasExactSynonym "Hodgkin's-like PTLD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8276"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin-like posttransplantation lymphoproliferative disease"^^xsd:string ; owl:deprecated true . obo:DOID_8281 oboInOwl:hasExactSynonym "relapsed MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8281"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant peripheral nerve sheath neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_8282 oboInOwl:hasDbXref "NCI:C7944"^^xsd:string, "UMLS_CUI:C0279545"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8282"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult epithelioid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6193, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_8283 obo:IAO_0000115 "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8694"^^xsd:string, "DOID:8863"^^xsd:string, "DOID:9233"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:567.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:197183001"^^xsd:string, "UMLS_CUI:C0029823"^^xsd:string ; oboInOwl:hasExactSynonym "Retractile mesenteritis"@en, "acute generalized peritonitis"@en, "primary bacterial peritonitis"@en, "sclerosing mesenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8283"^^xsd:string ; a owl:Class ; rdfs:label "peritonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000484 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_8285 oboInOwl:hasExactSynonym "Non-metastatic epithelioid cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8285"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonmetastatic epithelioid sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8286 oboInOwl:hasExactSynonym "metastatic epithelioid cell sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic epithelioid sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8287 oboInOwl:hasExactSynonym "Multiple Chondromatous hamartoma of the lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Multiple Chondromatous hamartoma of lung"^^xsd:string ; owl:deprecated true . obo:DOID_8288 oboInOwl:hasDbXref "NCI:C4459"^^xsd:string, "SNOMEDCT_US_2021_03_01:254652000"^^xsd:string, "UMLS_CUI:C0345978"^^xsd:string ; oboInOwl:hasExactSynonym "Clear cell squamous cell carcinoma of skin"@en, "Clear cell squamous cell skin carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8288"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "clear cell squamous cell skin carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3151 . obo:DOID_8289 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8289"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast adenolipoma"^^xsd:string ; owl:deprecated true . obo:DOID_829 oboInOwl:hasAlternativeId "DOID:10213"^^xsd:string, "DOID:12248"^^xsd:string, "DOID:13796"^^xsd:string, "DOID:14024"^^xsd:string, "DOID:14158"^^xsd:string, "DOID:2008"^^xsd:string, "DOID:2009"^^xsd:string, "DOID:828"^^xsd:string ; oboInOwl:hasExactSynonym "Crystal arthropathy NOS, of multiple sites (disorder)"@en, "Crystal arthropathy NOS, of the ankle and foot (disorder)"@en, "Crystal arthropathy NOS, of the forearm (disorder)"@en, "Crystal arthropathy NOS, of the hand (disorder)"@en, "Crystal arthropathy NOS, of the lower leg (disorder)"@en, "Crystal arthropathy NOS, of the pelvic region and thigh"@en, "Crystal arthropathy NOS, of the pelvic region and thigh (disorder)"@en, "Crystal arthropathy NOS, of the shoulder region (disorder)"@en, "Crystal arthropathy NOS, of the upper arm (disorder)"@en, "Crystal arthropathy of ankle and/or foot"@en, "Crystal arthropathy of ankle and/or foot (disorder)"@en, "Crystal arthropathy of forearm"@en, "Crystal arthropathy of forearm (disorder)"@en, "Crystal arthropathy of hand"@en, "Crystal arthropathy of hand (disorder)"@en, "Crystal arthropathy of lower leg"@en, "Crystal arthropathy of lower leg (disorder)"@en, "Crystal arthropathy of multiple sites"@en, "Crystal arthropathy of multiple sites (disorder)"@en, "Crystal arthropathy of shoulder region"@en, "Crystal arthropathy of shoulder region (disorder)"@en, "Crystal arthropathy of upper arm"@en, "Crystal arthropathy of upper arm (disorder)"@en, "Unspecified crystal arthropathy involving ankle and foot"@en, "Unspecified crystal arthropathy involving forearm"@en, "Unspecified crystal arthropathy involving hand"@en, "Unspecified crystal arthropathy involving lower leg"@en, "Unspecified crystal arthropathy involving multiple sites"@en, "Unspecified crystal arthropathy involving pelvic region and thigh"@en, "Unspecified crystal arthropathy involving shoulder region"@en, "Unspecified crystal arthropathy involving upper arm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:829"^^xsd:string ; a owl:Class ; rdfs:label "obsolete crystal arthropathy"^^xsd:string ; owl:deprecated true . obo:DOID_8292 oboInOwl:hasDbXref "NCI:C27729"^^xsd:string, "SNOMEDCT_US_2021_03_01:128892009"^^xsd:string, "UMLS_CUI:C1266046"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical Follicular adenoma"@en, "Atypical follicular adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8292"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical follicular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6204 . obo:DOID_8295 obo:IAO_0000115 "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B86"^^xsd:string, "ICD9CM:133.0"^^xsd:string, "MESH:D012532"^^xsd:string, "NCI:C34998"^^xsd:string, "SNOMEDCT_US_2021_03_01:266224002"^^xsd:string, "UMLS_CUI:C0036262"^^xsd:string ; oboInOwl:hasExactSynonym "Infestation by Sarcoptes scabiei"@en, "Infestation by Sarcoptes scabiei var hominis"@en, "Sarcoptic itch"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8295"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scabies"^^xsd:string ; rdfs:subClassOf obo:DOID_7894 ; skos:exactMatch "MESH:D012532"^^xsd:string . obo:DOID_83 obo:IAO_0000115 "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H26"^^xsd:string, "ICD9CM:366.8"^^xsd:string, "OMIM:601371"^^xsd:string, "OMIM:PS116200"^^xsd:string, "SNOMEDCT_US_2021_03_01:193620000"^^xsd:string, "UMLS_CUI:C0029531"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:83"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_110, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ; skos:exactMatch "MESH:D002386"^^xsd:string . obo:DOID_8302 obo:IAO_0000115 "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40178"^^xsd:string, "UMLS_CUI:C1513364"^^xsd:string ; oboInOwl:hasExactSynonym "Stromomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed endometrial stromal and smooth muscle tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_9460 . obo:DOID_8303 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8303"^^xsd:string ; a owl:Class ; rdfs:label "congenital granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3350, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_8304 obo:IAO_0000115 "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called \"amianthoid\" fibers."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6584"^^xsd:string, "UMLS_CUI:C1335295"^^xsd:string ; oboInOwl:hasExactSynonym "Palisaded Myofibroblastoma of the Lymph Node"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8304"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymph node palisaded myofibroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080617 . obo:DOID_8305 oboInOwl:hasDbXref "NCI:C6583"^^xsd:string, "UMLS_CUI:C1335063"^^xsd:string ; oboInOwl:hasExactSynonym "Nonossifying Fibromyxoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nonossifying fibromyxoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_8307 obo:IAO_0000115 "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36096"^^xsd:string, "UMLS_CUI:C1333369"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "early invasive cervical adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3702 . obo:DOID_8309 oboInOwl:hasExactSynonym "metastatic carcinoma from the small Intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic carcinoma from the small bowel"^^xsd:string ; owl:deprecated true . obo:DOID_8310 obo:IAO_0000115 "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5205"^^xsd:string, "SNOMEDCT_US_2021_03_01:105261000119101"^^xsd:string, "UMLS_CUI:C1335931"^^xsd:string ; oboInOwl:hasExactSynonym "Sclerosing breast Adenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosing adenosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_3274 . obo:DOID_8329 oboInOwl:hasExactSynonym "Resectable carcinoma of the Small Bowel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8329"^^xsd:string ; a owl:Class ; rdfs:label "obsolete resectable small intestine carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_833 obo:IAO_0000115 "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004428"^^xsd:string, "NCI:C3000"^^xsd:string, "SNOMEDCT_US_2021_03_01:363228008"^^xsd:string, "UMLS_CUI:C0013449"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:833"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "auditory system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060116, obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016490 ] ) ] . obo:DOID_8331 oboInOwl:hasDbXref "NCI:C6526"^^xsd:string, "UMLS_CUI:C1335382"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "perineural angioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0015189 ] . obo:DOID_8334 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular intratubular germ cell neoplasia with extratubular extension"^^xsd:string ; owl:deprecated true . obo:DOID_8335 oboInOwl:hasDbXref "NCI:C5199"^^xsd:string, "UMLS_CUI:C1334753"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microglandular adenosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_5998 . obo:DOID_8336 obo:IAO_0000115 "A choriocarcinoma of the ovary that is present during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6549"^^xsd:string, "UMLS_CUI:C1332987"^^xsd:string ; oboInOwl:hasExactSynonym "childhood ovarian choriocarcinoma"@en, "pediatric Choriocarcinoma of Ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8336"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood choriocarcinoma of the ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_5550, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_8337 obo:IAO_0000115 "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10275"^^xsd:string, "DOID:10276"^^xsd:string, "DOID:10947"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K37"^^xsd:string, "ICD9CM:540-543.99"^^xsd:string, "MESH:D001064"^^xsd:string, "NCI:C35145"^^xsd:string, "SNOMEDCT_US_2021_03_01:155729003"^^xsd:string, "UMLS_CUI:C0003615"^^xsd:string ; oboInOwl:hasExactSynonym "acute appendicitis"@en, "acute appendicitis with generalized peritonitis"@en, "acute appendicitis with peritoneal abscess"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8337"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1518, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_8338 obo:IAO_0000115 "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40208"^^xsd:string, "UMLS_CUI:C4289808"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8338"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "villoglandular variant cervical mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3701 . obo:DOID_8339 obo:IAO_0000115 "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40203"^^xsd:string, "UMLS_CUI:C1516422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal variant cervical mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3701 . obo:DOID_8340 oboInOwl:hasDbXref "NCI:C40202"^^xsd:string, "UMLS_CUI:C1516421"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8340"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocervical type cervical mucinous adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3701 . obo:DOID_8344 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8344"^^xsd:string ; a owl:Class ; rdfs:label "obsolete type 1b ALPS"^^xsd:string ; owl:deprecated true . obo:DOID_8345 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8345"^^xsd:string ; a owl:Class ; rdfs:label "obsolete type 2 ALPS"^^xsd:string ; owl:deprecated true . obo:DOID_8348 oboInOwl:hasExactSynonym "localized Neuroepithelioma of bone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8348"^^xsd:string ; a owl:Class ; rdfs:label "obsolete localized PNET of bone"^^xsd:string ; owl:deprecated true . obo:DOID_8349 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8349"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic peripheral neuroepithelioma of bone"^^xsd:string ; owl:deprecated true . obo:DOID_8352 obo:IAO_0000115 "A vascular cancer that is located_in the aorta."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5375"^^xsd:string, "UMLS_CUI:C1334560"^^xsd:string ; oboInOwl:hasExactSynonym "aortic malignant neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8352"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aortic malignant tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_175, obo:DOID_520, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000947 ] . obo:DOID_8353 oboInOwl:hasDbXref "NCI:C6561"^^xsd:string, "SNOMEDCT_US_2021_03_01:253093000"^^xsd:string, "UMLS_CUI:C1321427"^^xsd:string ; oboInOwl:hasExactSynonym "epithelioid MPNST"@en, "malignant epithelioid neoplasm of the peripheral nerve Sheath"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8353"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epithelioid malignant peripheral nerve sheath tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5940 . obo:DOID_8354 obo:IAO_0000115 "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9468"^^xsd:string, "OMIM:613779"^^xsd:string, "ORDO:280133"^^xsd:string, "SNOMEDCT_US_2021_03_01:771443008"^^xsd:string, "UMLS_CUI:C1332655"^^xsd:string ; oboInOwl:hasExactSynonym "C3 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8354"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "complement component 3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_8358 oboInOwl:hasDbXref "NCI:C40958"^^xsd:string, "UMLS_CUI:C1515293"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8358"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudoglandular variant testicular seminoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5842 . obo:DOID_8361 obo:IAO_0000115 "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40212"^^xsd:string, "UMLS_CUI:C1516407"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glassy cell variant cervical adenosquamous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5636 . obo:DOID_8362 oboInOwl:hasDbXref "NCI:C39932"^^xsd:string, "UMLS_CUI:C1515304"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8362"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "enteric pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_8365 oboInOwl:hasExactSynonym "malignant tumor of Inferior Vena Cava"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8365"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inferior vena cava malignant neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_8366 oboInOwl:hasExactSynonym "relapsed adenocarcinoma of the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8366"^^xsd:string ; a owl:Class ; rdfs:label "obsolete esophageal adenocarcinoma recurrent"^^xsd:string ; owl:deprecated true . obo:DOID_8368 oboInOwl:hasDbXref "NCI:C6908"^^xsd:string, "SNOMEDCT_US_2021_03_01:57606003"^^xsd:string, "UMLS_CUI:C1370510"^^xsd:string ; oboInOwl:hasExactSynonym "Chordoid meningioma"@en, "meningioma, chordoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8368"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chordoid meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_4210 . obo:DOID_8369 oboInOwl:hasDbXref "NCI:C7814"^^xsd:string, "UMLS_CUI:C0278622"^^xsd:string ; oboInOwl:hasExactSynonym "adult MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8369"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult malignant schwannoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5940, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_8376 oboInOwl:hasExactSynonym "mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8376"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_8381 oboInOwl:hasExactSynonym "Ectopic Calcitonin Secretion"@en, "Ectopic calcitonin production (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8381"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ectopic calcitonin production"^^xsd:string ; owl:deprecated true . obo:DOID_8382 oboInOwl:hasExactSynonym "relapsed carcinoma of Endometrium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8382"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent endometrial cancer"^^xsd:string ; owl:deprecated true . obo:DOID_8386 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8386"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ectopic chorionic gonadotropin secretion disease"^^xsd:string ; owl:deprecated true . obo:DOID_8387 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8387"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic non-cutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_8388 oboInOwl:hasExactSynonym "mixed Embryonal carcinoma and Seminoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8388"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed embryonal carcinoma and seminoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_8389 oboInOwl:hasDbXref "NCI:C5824"^^xsd:string, "UMLS_CUI:C1334437"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of Lumbar Plexus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8389"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lumbar plexus neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4693 . obo:DOID_8390 oboInOwl:hasExactSynonym "mixed Choriocarcinoma and Seminoma of testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8390"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed choriocarcinoma and seminoma of the testis"^^xsd:string ; owl:deprecated true . obo:DOID_8392 oboInOwl:hasDbXref "NCI:C39923"^^xsd:string, "UMLS_CUI:C1515308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8392"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "reticular pattern testicular yolk sac tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5344 . obo:DOID_8394 oboInOwl:hasDbXref "NCI:C39946"^^xsd:string, "UMLS_CUI:C1515284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult type testicular granulosa cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5331, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_8398 obo:IAO_0000115 "An arthritis that has_material_basis_in worn out cartilage located_in joint."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002506"^^xsd:string, "ICD9CM:715.3"^^xsd:string, "UMLS_CUI:C0157946"^^xsd:string ; oboInOwl:hasExactSynonym "Osteoarthrosis and allied disorder"@en, "degenerative arthritis"@en, "degenerative joint disease"@en, "hypertrophic arthritis"@en, "osteoarthrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8398"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "osteoarthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] ; skos:exactMatch "MESH:D010003"^^xsd:string . obo:DOID_8399 obo:IAO_0000115 "A mite infestation that involves rash caused by Leptotrombidium deliense."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014323"^^xsd:string, "UMLS_CUI:C0041170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8399"^^xsd:string ; a owl:Class ; rdfs:label "trombiculiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_7894 . obo:DOID_84 obo:IAO_0000115 "An ischemic bone disease that results_in necrosis located_in epiphysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:87"^^xsd:string ; oboInOwl:hasDbXref "GARD:12703"^^xsd:string, "ICD10CM:M93.2"^^xsd:string, "ICD10CM:M93.9"^^xsd:string, "ICD9CM:732.7"^^xsd:string, "MESH:D010007"^^xsd:string, "MESH:D010008"^^xsd:string, "NCI:C34877"^^xsd:string, "NCI:C34878"^^xsd:string, "OMIM:165800"^^xsd:string, "SNOMEDCT_US_2021_03_01:156821002"^^xsd:string, "SNOMEDCT_US_2021_03_01:70736000"^^xsd:string, "UMLS_CUI:C0029420"^^xsd:string, "UMLS_CUI:C0029421"^^xsd:string ; oboInOwl:hasExactSynonym "OCD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:84"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "osteochondritis dissecans"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_840 obo:IAO_0000115 "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.3"^^xsd:string, "ICD9CM:495.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:13394002"^^xsd:string, "UMLS_CUI:C0152108"^^xsd:string ; oboInOwl:hasExactSynonym "Suberosis"@en, "cork-handlers' disease or lung"@en, "cork-handlers' lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:840"^^xsd:string ; a owl:Class ; rdfs:label "cork-handlers' disease"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000604 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_8400 oboInOwl:hasDbXref "NCI:C4553"^^xsd:string, "SNOMEDCT_US_2021_03_01:255009006"^^xsd:string, "UMLS_CUI:C0346367"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Corneal melanoma"@en, "malignant melanoma of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant cornea melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6199 . obo:DOID_8401 oboInOwl:hasExactSynonym "Non-metastatic malignant hemangiopericytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8401"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant hemangiopericytoma nonmetastatic"^^xsd:string ; owl:deprecated true . obo:DOID_8408 obo:IAO_0000115 "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27300"^^xsd:string, "SNOMEDCT_US_2021_03_01:48241004"^^xsd:string, "UMLS_CUI:C0267497"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel diverticulitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8408"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Meckel's diverticulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7475, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_8409 obo:IAO_0000115 "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36094"^^xsd:string, "UMLS_CUI:C1333370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8409"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microinvasive cervical squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3744 . obo:DOID_841 obo:IAO_0000115 "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2707"^^xsd:string ; oboInOwl:hasDbXref "GARD:12"^^xsd:string, "ICD10CM:J67.9"^^xsd:string, "ICD9CM:495"^^xsd:string, "MESH:D000542"^^xsd:string, "NCI:C34369"^^xsd:string, "SNOMEDCT_US_2021_03_01:155581001"^^xsd:string, "UMLS_CUI:C0002390"^^xsd:string ; oboInOwl:hasExactSynonym "alveolitis"@en, "hypersensitivity pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrinsic allergic alveolitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_8410 oboInOwl:hasDbXref "NCI:C6565"^^xsd:string, "UMLS_CUI:C1333000"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric renal Angiomyolipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8410"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood kidney angiomyolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8411, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_8411 oboInOwl:hasDbXref "NCI:C3888"^^xsd:string, "SNOMEDCT_US_2021_03_01:254921004"^^xsd:string, "UMLS_CUI:C0241961"^^xsd:string ; oboInOwl:hasExactSynonym "Angiomyolipoma of kidney"@en, "renal Angiomyolipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8411"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney angiomyolipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116 . obo:DOID_8413 oboInOwl:hasExactSynonym "relapsed extraskeletal Osteosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8413"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent extraskeletal osteosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8415 oboInOwl:hasDbXref "NCI:C27389"^^xsd:string, "UMLS_CUI:C1332840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8415"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carcinoma arising in nasal papillomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4931 . obo:DOID_8418 oboInOwl:hasDbXref "NCI:C4244"^^xsd:string, "SNOMEDCT_US_2021_03_01:403996004"^^xsd:string, "UMLS_CUI:C0334459"^^xsd:string ; oboInOwl:hasExactSynonym "Infantile fibrosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8418"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital fibrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3520, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_8419 oboInOwl:hasDbXref "NCI:C4161"^^xsd:string, "SNOMEDCT_US_2021_03_01:26545006"^^xsd:string, "UMLS_CUI:C0334329"^^xsd:string ; oboInOwl:hasExactSynonym "Macrofollicular adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8419"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colloid adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6204 . obo:DOID_8420 oboInOwl:hasDbXref "NCI:C6560"^^xsd:string, "SNOMEDCT_US_2021_03_01:699659007"^^xsd:string, "UMLS_CUI:C1333821"^^xsd:string ; oboInOwl:hasExactSynonym "glandular MPNST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8420"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant glandular tumor of peripheral nerve sheath"^^xsd:string ; rdfs:subClassOf obo:DOID_5940 . obo:DOID_8426 oboInOwl:hasDbXref "NCI:C4469"^^xsd:string, "SNOMEDCT_US_2021_03_01:254694002"^^xsd:string, "UMLS_CUI:C0346006"^^xsd:string ; oboInOwl:hasExactSynonym "follicular infundibulum tumour"@en, "neoplasm of the Follicular Infundibulum"@en, "tumor of follicular infundibulum"@en, "tumour of follicular infundibulum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8426"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "follicular infundibulum tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5375 . obo:DOID_8427 oboInOwl:hasDbXref "NCI:C8601"^^xsd:string, "SNOMEDCT_US_2021_03_01:423673009"^^xsd:string, "UMLS_CUI:C0853394"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Retinal melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4645 . obo:DOID_8428 obo:IAO_0000115 "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5140"^^xsd:string, "UMLS_CUI:C1332315"^^xsd:string ; oboInOwl:hasExactSynonym "Apocrine carcinoma in situ of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast apocrine carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8791 . obo:DOID_8429 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8429"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular seminoma with syncytiotrophoblastic cells"^^xsd:string ; owl:deprecated true . obo:DOID_8431 oboInOwl:hasDbXref "NCI:C27311"^^xsd:string, "UMLS_CUI:C0856817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8431"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "physiological polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_8432 obo:IAO_0000115 "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "MESH:D011086"^^xsd:string, "NCI:C26863"^^xsd:string, "SNOMEDCT_US_2021_03_01:127062003"^^xsd:string, "UMLS_CUI:C0032461"^^xsd:string ; oboInOwl:hasExactSynonym "Erythrocythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4961 . obo:DOID_8433 oboInOwl:hasDbXref "NCI:C27331"^^xsd:string, "UMLS_CUI:C0877367"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_8435 oboInOwl:hasAlternativeId "DOID:10227"^^xsd:string, "DOID:13136"^^xsd:string, "DOID:8434"^^xsd:string ; oboInOwl:hasExactSynonym "Drug dependence, antepartum"@en, "Pregnancy and drug dependence"@en, "Pregnancy and drug dependence (disorder)"@en, "drug dependence of mother with delivery"@en, "postpartum drug dependence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8435"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_8437 oboInOwl:hasDbXref "ICD10CM:K56.609"^^xsd:string, "ICD9CM:560.9"^^xsd:string, "MESH:D007415"^^xsd:string, "NCI:C9175"^^xsd:string, "SNOMEDCT_US_2021_03_01:81060008"^^xsd:string, "UMLS_CUI:C0021843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_8438 obo:IAO_0000115 "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000343"^^xsd:string, "SNOMEDCT_US_2021_03_01:20813000"^^xsd:string, "UMLS_CUI:C0001727"^^xsd:string ; oboInOwl:hasExactSynonym "Afferent limb syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8438"^^xsd:string ; a owl:Class ; rdfs:label "afferent loop syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8439 ; skos:exactMatch "MESH:D000343"^^xsd:string . obo:DOID_8439 oboInOwl:hasDbXref "ICD10CM:K91.1"^^xsd:string, "ICD9CM:564.2"^^xsd:string, "MESH:D011178"^^xsd:string, "SNOMEDCT_US_2021_03_01:266527005"^^xsd:string, "UMLS_CUI:C0032763"^^xsd:string ; oboInOwl:hasExactSynonym "Postgastric surgery syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8439"^^xsd:string ; a owl:Class ; rdfs:label "postgastrectomy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1159, obo:DOID_5295 . obo:DOID_844 oboInOwl:hasExactSynonym "chronic depression (disorder)"@en, "chronic depressive personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:844"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic depressive disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8440 oboInOwl:hasDbXref "MESH:D045823"^^xsd:string, "NCI:C37979"^^xsd:string, "SNOMEDCT_US_2021_03_01:278524008"^^xsd:string, "UMLS_CUI:C1258215"^^xsd:string ; oboInOwl:hasExactSynonym "Ileus of intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8440"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ileus"^^xsd:string ; rdfs:subClassOf obo:DOID_8437 . obo:DOID_8442 oboInOwl:hasDbXref "ICD10CM:K56.0"^^xsd:string, "ICD9CM:560.1"^^xsd:string, "MESH:D007418"^^xsd:string, "NCI:C93045"^^xsd:string, "SNOMEDCT_US_2021_03_01:155773004"^^xsd:string, "UMLS_CUI:C0030446"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8442"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paralytic ileus"^^xsd:string ; rdfs:subClassOf obo:DOID_8437 . obo:DOID_8443 obo:IAO_0000115 "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:353.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:3548001"^^xsd:string, "UMLS_CUI:C0006091"^^xsd:string ; oboInOwl:hasExactSynonym "Brachial plexus lesions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8443"^^xsd:string ; a owl:Class ; rdfs:label "brachial plexus lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_3690 . obo:DOID_8444 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8444"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nerve root and plexus disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8445 obo:IAO_0000115 "An intestinal obstruction characterized by abnormal rotation of the intestines."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K56.2"^^xsd:string, "ICD9CM:560.2"^^xsd:string, "MESH:D045822"^^xsd:string, "NCI:C98963"^^xsd:string, "OMIM:193250"^^xsd:string, "SNOMEDCT_US_2021_03_01:9707006"^^xsd:string, "UMLS_CUI:C0042961"^^xsd:string ; oboInOwl:hasExactSynonym "Twist of intestine, bowel, or colon"@en, "Volvulus"@en, "familial intestinal malrotation"@en, "volvulus of midgut"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal volvulus"^^xsd:string ; rdfs:subClassOf obo:DOID_8437 . obo:DOID_8446 oboInOwl:hasDbXref "ICD10CM:K56.1"^^xsd:string, "ICD9CM:560.0"^^xsd:string, "MESH:D007443"^^xsd:string, "NCI:C113484"^^xsd:string, "OMIM:147710"^^xsd:string, "SNOMEDCT_US_2021_03_01:155772009"^^xsd:string, "UMLS_CUI:C0021933"^^xsd:string ; oboInOwl:hasExactSynonym "Intussusception"@en, "Intussusception of intestine"@en, "Invagination of intestine or colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8446"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "intussusception"^^xsd:string ; rdfs:subClassOf obo:DOID_8437 . obo:DOID_8448 oboInOwl:hasDbXref "ICD10CM:K56.4"^^xsd:string, "ICD9CM:560.39"^^xsd:string, "SNOMEDCT_US_2021_03_01:197540000"^^xsd:string, "UMLS_CUI:C0029640"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8448"^^xsd:string ; a owl:Class ; rdfs:label "intestinal impaction"^^xsd:string ; rdfs:subClassOf obo:DOID_8437 . obo:DOID_8449 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8449"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin B deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_845 obo:IAO_0000115 "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F34.0"^^xsd:string, "ICD9CM:301.13"^^xsd:string, "MESH:D003527"^^xsd:string, "SNOMEDCT_US_2021_03_01:191754000"^^xsd:string, "UMLS_CUI:C0010598"^^xsd:string ; oboInOwl:hasExactSynonym "Affective personality disorder"@en, "Cycloid personality"@en, "Cyclothymia"@en, "Cyclothymic personality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:845"^^xsd:string ; a owl:Class ; rdfs:label "cyclothymic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3312 . obo:DOID_8451 oboInOwl:hasAlternativeId "DOID:8450"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8451"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_8452 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8452"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malnutrition"^^xsd:string ; owl:deprecated true . obo:DOID_8453 oboInOwl:hasExactSynonym "Folic acid deficiency"@en, "Folic acid deficiency (disorder)"@en, "deficiency of folic acid (disorder)"@en, "folate deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8453"^^xsd:string ; a owl:Class ; rdfs:label "obsolete folic acid deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_8454 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E53.0"^^xsd:string, "ICD9CM:266.0"^^xsd:string, "MESH:D012257"^^xsd:string, "SNOMEDCT_US_2021_03_01:20307000"^^xsd:string, "UMLS_CUI:C0035528"^^xsd:string ; oboInOwl:hasExactSynonym "ariboflavinosis"^^xsd:string, "vitamin B2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8454"^^xsd:string ; a owl:Class ; rdfs:label "riboflavin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_8455 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E53.1"^^xsd:string, "ICD9CM:266.1"^^xsd:string, "MESH:D026681"^^xsd:string, "NCI:C85221"^^xsd:string, "SNOMEDCT_US_2021_03_01:18881008"^^xsd:string, "UMLS_CUI:C0936215"^^xsd:string ; oboInOwl:hasExactSynonym "vitamin B6 deficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8455"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyridoxine deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_8456 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002796"^^xsd:string, "SNOMEDCT_US_2021_03_01:238113006"^^xsd:string, "UMLS_CUI:C0008412"^^xsd:string ; oboInOwl:hasExactSynonym "Choline deficiency"@en, "choline deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8456"^^xsd:string ; a owl:Class ; rdfs:label "choline deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_8457 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects."^^xsd:string ; oboInOwl:hasDbXref "GARD:10014"^^xsd:string, "ICD9CM:265.2"^^xsd:string, "MESH:D010383"^^xsd:string, "SNOMEDCT_US_2021_03_01:267491008"^^xsd:string, "UMLS_CUI:C0030783"^^xsd:string ; oboInOwl:hasExactSynonym "Niacin deficiency"@en, "Niacin-tryptophan deficiency"@en, "Pellagra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8457"^^xsd:string ; a owl:Class ; rdfs:label "pellagra"^^xsd:string ; rdfs:subClassOf obo:DOID_5113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_8458 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8458"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Thiamine and niacin deficiency state"^^xsd:string ; owl:deprecated true . obo:DOID_8459 oboInOwl:hasExactSynonym "Cobalamin deficiency (disorder)"@en, "deficiency of vitamin B>12< (disorder)"@en, "vitamin B 12 deficiency"@en, "vitamin B12 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8459"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin B 12 deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_846 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:846"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arthropathy associated with hematological disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8461 obo:IAO_0000115 "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye."^^xsd:string ; oboInOwl:hasDbXref "GARD:5764"^^xsd:string, "MESH:D058540"^^xsd:string, "NCI:C35256"^^xsd:string, "OMIM:304050"^^xsd:string, "ORDO:50"^^xsd:string, "SNOMEDCT_US_2021_03_01:80651009"^^xsd:string, "UMLS_CUI:C0175713"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8461"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Aicardi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0007858 ] ; skos:exactMatch "MESH:D058540"^^xsd:string . obo:DOID_8463 oboInOwl:hasDbXref "ICD10CM:H16.0"^^xsd:string, "ICD9CM:370.0"^^xsd:string, "MESH:D003320"^^xsd:string, "NCI:C50515"^^xsd:string, "SNOMEDCT_US_2021_03_01:193758008"^^xsd:string, "UMLS_CUI:C0010043"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_8464 oboInOwl:hasDbXref "ICD9CM:361.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:193332006"^^xsd:string, "UMLS_CUI:C0154817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8464"^^xsd:string ; a owl:Class ; rdfs:label "flat retinoschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_8465 . obo:DOID_8465 oboInOwl:hasDbXref "ICD10CM:H33.10"^^xsd:string, "ICD9CM:361.10"^^xsd:string, "MESH:D041441"^^xsd:string, "NCI:C85046"^^xsd:string, "SNOMEDCT_US_2021_03_01:389992006"^^xsd:string, "UMLS_CUI:C0152439"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8465"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinoschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_8466 obo:IAO_0000115 "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012162"^^xsd:string, "NCI:C34979"^^xsd:string, "SNOMEDCT_US_2021_03_01:95695004"^^xsd:string, "UMLS_CUI:C0035304"^^xsd:string ; oboInOwl:hasExactSynonym "degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8466"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_5679, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_8467 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8467"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Retinoschisis and retinal cysts"^^xsd:string ; owl:deprecated true . obo:DOID_8469 obo:IAO_0000115 "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8468"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J11.1"^^xsd:string, "ICD9CM:487"^^xsd:string, "MESH:D007251"^^xsd:string, "NCI:C53482"^^xsd:string, "SNOMEDCT_US_2021_03_01:155559006"^^xsd:string, "UMLS_CUI:C0021400"^^xsd:string ; oboInOwl:hasExactSynonym "Influenza with non-respiratory manifestation"@en, "Influenza with other manifestations"@en, "flu"@en, "influenza with non-respiratory manifestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "influenza"^^xsd:string ; rdfs:subClassOf obo:DOID_1579, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_197911 obo:NCBITaxon_197912 obo:NCBITaxon_197913 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] . obo:DOID_8472 oboInOwl:hasDbXref "GARD:7058"^^xsd:string, "ICD10CM:L94.0"^^xsd:string, "ICD9CM:701.0"^^xsd:string, "MESH:D012594"^^xsd:string, "NCI:C72069"^^xsd:string, "SNOMEDCT_US_2021_03_01:90424004"^^xsd:string, "UMLS_CUI:C0036420"^^xsd:string ; oboInOwl:hasExactSynonym "Morphea"@en, "Scleroderma, circumscribed or localised"@en, "Scleroderma, circumscribed or localized"@en, "circumscribed scleroderma"@en, "localised morphea"@en, "localised morphoea"@en, "localised scleroderma"@en, "localized morphea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "localized scleroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_419 . obo:DOID_8476 oboInOwl:hasDbXref "GARD:7889"^^xsd:string, "ICD10CM:K90.81"^^xsd:string, "ICD9CM:040.2"^^xsd:string, "MESH:D008061"^^xsd:string, "NCI:C85228"^^xsd:string, "SNOMEDCT_US_2021_03_01:41545003"^^xsd:string, "UMLS_CUI:C0023788"^^xsd:string ; oboInOwl:hasExactSynonym "Whipple's disease"@en, "intestinal lipodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Whipple disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_8477 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8477"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malabsorption syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_8478 obo:IAO_0000115 "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050000"^^xsd:string, "DOID:13079"^^xsd:string ; oboInOwl:hasDbXref "GARD:5728"^^xsd:string, "ICD10CM:A42"^^xsd:string, "ICD9CM:039.9"^^xsd:string, "MESH:D000196"^^xsd:string, "NCI:C34350"^^xsd:string, "SNOMEDCT_US_2021_03_01:50508009"^^xsd:string, "UMLS_CUI:C0001261"^^xsd:string ; oboInOwl:hasExactSynonym "Actinomycotic madura foot"@en, "Actinomycotic mycetema"@en, "Actinomycotic mycetoma of foot"@en, "Madura foot due to Actinomadura"@en, "actinomycotic infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "actinomycetoma"@en, "boil"@en ; oboInOwl:id "DOID:8478"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "actinomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_1579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1655 obo:NCBITaxon_1656 obo:NCBITaxon_1659 obo:NCBITaxon_1660 obo:NCBITaxon_1750 obo:NCBITaxon_52769 obo:NCBITaxon_52773 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000225 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000709 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ; skos:exactMatch "MESH:D000196"^^xsd:string . obo:DOID_848 obo:IAO_0000115 "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M19.90"^^xsd:string, "MESH:D001168"^^xsd:string, "NCI:C2883"^^xsd:string, "SNOMEDCT_US_2021_03_01:372091005"^^xsd:string, "UMLS_CUI:C0003864"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory disorder of joint"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_3342, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000313 ] ; skos:exactMatch "MESH:D001168"^^xsd:string . obo:DOID_8481 oboInOwl:hasAlternativeId "DOID:14025"^^xsd:string, "DOID:14036"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I01.9"^^xsd:string, "ICD10CM:M05.3"^^xsd:string, "ICD9CM:391.9"^^xsd:string, "ICD9CM:398.0"^^xsd:string, "NCI:C34985"^^xsd:string, "SNOMEDCT_US_2021_03_01:195136004"^^xsd:string, "SNOMEDCT_US_2021_03_01:8805001"^^xsd:string, "UMLS_CUI:C0035440"^^xsd:string, "UMLS_CUI:C0489959"^^xsd:string ; oboInOwl:hasExactSynonym "Rheumatic degeneration of myocardium"@en, "Rheumatic fever with myocarditis"@en, "Rheumatic myocarditis"@en, "Rheumatoid myocarditis"@en, "active rheumatic fever with myocarditis"@en, "acute Rheumatic Myocarditis"@en, "acute rheumatic carditis"@en, "acute rheumatic myocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8481"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "rheumatic myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_820, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002349 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1301 ] . obo:DOID_8482 oboInOwl:hasDbXref "ICD10CM:H34.0"^^xsd:string, "ICD9CM:362.34"^^xsd:string, "NCI:C35193"^^xsd:string, "SNOMEDCT_US_2021_03_01:87224000"^^xsd:string, "UMLS_CUI:C0154840"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal transient arterial occlusion"@en, "Transient arterial retinal occlusion"@en, "Transient retinal arterial occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transient retinal arterial occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_8483 . obo:DOID_8483 oboInOwl:hasDbXref "MESH:D015356"^^xsd:string, "NCI:C34978"^^xsd:string, "SNOMEDCT_US_2021_03_01:232035005"^^xsd:string, "UMLS_CUI:C0035302"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal artery occlusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8483"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_1729 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8483 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001620 ] ) ] . obo:DOID_8484 obo:IAO_0000115 "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.6"^^xsd:string, "ICD9CM:495.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:86638007"^^xsd:string, "UMLS_CUI:C0155890"^^xsd:string ; oboInOwl:hasExactSynonym "Maple bark-strippers' lung"@en, "Maple-bark strippers' lung"@en, "alveolitis due to cryptostroma corticale"@en, "maple bark disease"@en, "maple bark stripper's disease"@en, "maple bark stripper's lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8484"^^xsd:string ; a owl:Class ; rdfs:label "maple bark strippers' lung"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_8485 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050087"^^xsd:string, "DOID:0050595"^^xsd:string, "DOID:8486"^^xsd:string ; oboInOwl:hasExactSynonym "disseminated mucormycosis"@en, "zygomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8485"^^xsd:string ; a owl:Class ; rdfs:label "mucormycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473 . obo:DOID_8487 oboInOwl:hasExactSynonym "secondary retinal cyst (disorder)"@en, "secondary retinal cysts"@en, "secondary retinal cysts (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8487"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary retinal cyst"^^xsd:string ; owl:deprecated true . obo:DOID_8488 obo:IAO_0000115 "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O40"^^xsd:string, "ICD9CM:657.0"^^xsd:string, "MESH:D006831"^^xsd:string, "NCI:C92848"^^xsd:string, "SNOMEDCT_US_2021_03_01:157052008"^^xsd:string, "UMLS_CUI:C0020224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyhydramnios"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_8489 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of amniotic fluid and membranes"^^xsd:string ; owl:deprecated true . obo:DOID_849 obo:IAO_0000115 "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:714.81"^^xsd:string ; oboInOwl:hasExactSynonym "Rheumatoid lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:849"^^xsd:string ; a owl:Class ; rdfs:label "rheumatoid arthritis interstitial lung disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_8490 oboInOwl:hasAlternativeId "DOID:8496"^^xsd:string, "DOID:8497"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum primary uterine inertia"@en, "primary uterine inertia - delivered"@en, "primary uterine inertia - delivered (disorder)"@en, "primary uterine inertia, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8490"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary hypotonic uterine dysfunction"^^xsd:string ; owl:deprecated true . obo:DOID_8491 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8491"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Prolonged first stage of labor"^^xsd:string ; owl:deprecated true . obo:DOID_8493 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8493"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abnormality of forces of labor"^^xsd:string ; owl:deprecated true . obo:DOID_8494 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8494"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dystocia"^^xsd:string ; owl:deprecated true . obo:DOID_8495 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8495"^^xsd:string ; a owl:Class ; rdfs:label "obsolete prolonged labor"^^xsd:string ; owl:deprecated true . obo:DOID_8498 oboInOwl:hasDbXref "ICD10CM:H53.63"^^xsd:string, "ICD9CM:368.61"^^xsd:string, "MESH:C537743"^^xsd:string, "SNOMEDCT_US_2021_03_01:193687000"^^xsd:string, "UMLS_CUI:C1306122"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8498"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hereditary night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_8499 . obo:DOID_8499 obo:IAO_0000115 "A retinal disease that is characterized by difficulty or the inability to see in relatively low light."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.6"^^xsd:string, "ICD9CM:368.6"^^xsd:string, "MESH:D009755"^^xsd:string, "NCI:C34850"^^xsd:string, "SNOMEDCT_US_2021_03_01:75390007"^^xsd:string, "UMLS_CUI:C0028077"^^xsd:string ; oboInOwl:hasExactSynonym "nyctalopia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8499"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_850 obo:IAO_0000115 "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11894"^^xsd:string, "DOID:11895"^^xsd:string, "DOID:29"^^xsd:string, "DOID:766"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.4"^^xsd:string, "MESH:D008171"^^xsd:string, "NCI:C3198"^^xsd:string, "SNOMEDCT_US_2021_03_01:266374002"^^xsd:string, "UMLS_CUI:C0024115"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:850"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Updating out dated CUI and removing lung abscess as a synonym."^^xsd:string ; rdfs:label "lung disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050161 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_8500 oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "ICD9CM:362.7"^^xsd:string, "NCI:C35194"^^xsd:string, "SNOMEDCT_US_2021_03_01:41799005"^^xsd:string, "UMLS_CUI:C0154860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8500"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary retinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_8501 oboInOwl:hasDbXref "MESH:D058499"^^xsd:string, "NCI:C35625"^^xsd:string, "SNOMEDCT_US_2021_03_01:314407005"^^xsd:string, "UMLS_CUI:C0854723"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal Dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8501"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fundus dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_8502 obo:IAO_0000115 "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8502"^^xsd:string ; a owl:Class ; rdfs:label "bullous skin disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2723 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000009 ] ) ] . obo:DOID_8503 obo:IAO_0000115 "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L40.1"^^xsd:string, "ICD9CM:694.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:200973000"^^xsd:string, "UMLS_CUI:C1314968"^^xsd:string ; oboInOwl:hasExactSynonym "Impetigo herpetiformis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8503"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "impetigo herpetiformis"^^xsd:string ; rdfs:subClassOf obo:DOID_8504 . obo:DOID_8504 obo:IAO_0000115 "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L01.0"^^xsd:string, "ICD9CM:684"^^xsd:string, "MESH:D007169"^^xsd:string, "NCI:C99088"^^xsd:string, "SNOMEDCT_US_2021_03_01:156319000"^^xsd:string, "UMLS_CUI:C0021099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "impetigo"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 . obo:DOID_8505 oboInOwl:hasDbXref "GARD:1917"^^xsd:string, "ICD10CM:L13.0"^^xsd:string, "ICD9CM:694.0"^^xsd:string, "MESH:D003874"^^xsd:string, "NCI:C26742"^^xsd:string, "SNOMEDCT_US_2021_03_01:200899006"^^xsd:string, "UMLS_CUI:C0011608"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatitis herpetiformis"@en, "Dermatosis herpetiformis"@en, "Duhring's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8505"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermatitis herpetiformis"^^xsd:string ; rdfs:subClassOf obo:DOID_8502 . obo:DOID_8506 obo:IAO_0000115 "A pemphigoid that is characterized by large blisters."^^xsd:string ; oboInOwl:hasDbXref "GARD:5972"^^xsd:string, "ICD10CM:L12.0"^^xsd:string, "ICD9CM:694.5"^^xsd:string, "MESH:D010391"^^xsd:string, "NCI:C84389"^^xsd:string, "SNOMEDCT_US_2021_03_01:77090002"^^xsd:string, "UMLS_CUI:C0030805"^^xsd:string ; oboInOwl:hasExactSynonym "Bullous pemphigoid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8506"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bullous pemphigoid"^^xsd:string ; rdfs:subClassOf obo:DOID_0080841 . obo:DOID_8507 oboInOwl:hasDbXref "ICD10CM:L12.2"^^xsd:string, "ICD9CM:694.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:267799009"^^xsd:string, "UMLS_CUI:C0152092"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile dermatitis herpetiformis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8507"^^xsd:string ; a owl:Class ; rdfs:label "juvenile dermatitis herpetiformis"^^xsd:string ; rdfs:subClassOf obo:DOID_8505, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_8508 oboInOwl:hasDbXref "ICD10CM:L13.1"^^xsd:string, "ICD9CM:694.1"^^xsd:string, "MESH:D012872"^^xsd:string, "SNOMEDCT_US_2021_03_01:25147002"^^xsd:string, "UMLS_CUI:C0600336"^^xsd:string ; oboInOwl:hasExactSynonym "Sneddon-Wilkinson disease or syndrome"@en, "Subcorneal pustular dermatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8508"^^xsd:string ; a owl:Class ; rdfs:label "subcorneal pustular dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_8502 . obo:DOID_851 obo:IAO_0000115 "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N75.0"^^xsd:string, "ICD9CM:616.2"^^xsd:string, "NCI:C26706"^^xsd:string, "SNOMEDCT_US_2021_03_01:57044006"^^xsd:string, "UMLS_CUI:C0004767"^^xsd:string ; oboInOwl:hasExactSynonym "Bartholin duct cyst"@en, "Bartholin's Cyst"@en, "Cyst of Bartholin's gland"@en, "Cyst of Bartholin's gland duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:851"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Bartholin's duct cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_60002, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000460 ] . obo:DOID_8512 oboInOwl:hasDbXref "ICD10CM:O88.21"^^xsd:string, "ICD9CM:673"^^xsd:string, "SNOMEDCT_US_2021_03_01:237341004"^^xsd:string, "UMLS_CUI:C0157540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8512"^^xsd:string ; a owl:Class ; rdfs:label "puerperal pulmonary embolism"^^xsd:string ; rdfs:subClassOf obo:DOID_9477 . obo:DOID_8514 oboInOwl:hasDbXref "ICD9CM:415"^^xsd:string, "SNOMEDCT_US_2021_03_01:155324005"^^xsd:string, "UMLS_CUI:C0155671"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8514"^^xsd:string ; a owl:Class ; rdfs:label "acute pulmonary heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8515 . obo:DOID_8515 obo:IAO_0000115 "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I27.81"^^xsd:string, "MESH:D011660"^^xsd:string, "SNOMEDCT_US_2021_03_01:83291003"^^xsd:string, "UMLS_CUI:C0034072"^^xsd:string ; oboInOwl:hasExactSynonym "cardiopulmonary disease"@en, "pulmonary heart disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8515"^^xsd:string ; a owl:Class ; rdfs:label "Cor pulmonale"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_8516 oboInOwl:hasDbXref "ICD9CM:415.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:1001000119102"^^xsd:string, "UMLS_CUI:C0034066"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8516"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary embolism and infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_8514 . obo:DOID_8517 oboInOwl:hasDbXref "ICD10CM:I26.09"^^xsd:string, "ICD9CM:415.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:155325006"^^xsd:string, "UMLS_CUI:C0155672"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8517"^^xsd:string ; a owl:Class ; rdfs:label "acute cor pulmonale"^^xsd:string ; rdfs:subClassOf obo:DOID_8514 . obo:DOID_8519 obo:IAO_0000115 "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F13.11"^^xsd:string, "ICD9CM:305.43"^^xsd:string, "UMLS_CUI:C0154529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8519"^^xsd:string ; a owl:Class ; rdfs:label "barbiturate abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_8521 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8521"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent manic episodes"^^xsd:string ; owl:deprecated true . obo:DOID_8523 oboInOwl:hasExactSynonym "nodular lymphoma of lymph nodes of axilla and upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8523"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8524 oboInOwl:hasAlternativeId "DOID:8603"^^xsd:string ; oboInOwl:hasExactSynonym "Follicle Center Lymphoma"@en, "Follicular low grade B-cell lymphoma (disorder)"@en, "Follicular non-Hodgkin's lymphoma (disorder)"@en, "Giant follicular lymphosarcoma"@en, "follicular lymphoma"@en, "malignant lymphoma, follicle centre"@en, "malignant lymphoma, nodular NOS (morphologic abnormality)"@en, "nodular lymphoma (Brill - Symmers disease)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8524"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete nodular lymphoma"^^xsd:string ; owl:deprecated true . obo:DOID_8525 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8525"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8527 obo:IAO_0000115 "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8526"^^xsd:string, "DOID:8809"^^xsd:string, "DOID:8884"^^xsd:string, "DOID:8935"^^xsd:string, "DOID:9151"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C93.Z"^^xsd:string, "ICD9CM:206.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:188747004"^^xsd:string, "UMLS_CUI:C0153903"^^xsd:string ; oboInOwl:hasExactSynonym "Schilling's leukaemia"@en, "Schilling's leukemia"@en, "monocytic leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8527"^^xsd:string ; a owl:Class ; rdfs:label "monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8692 . obo:DOID_8529 obo:IAO_0000115 "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8528"^^xsd:string, "DOID:8610"^^xsd:string, "DOID:8655"^^xsd:string, "DOID:9034"^^xsd:string, "DOID:9086"^^xsd:string, "DOID:9200"^^xsd:string, "DOID:9237"^^xsd:string ; oboInOwl:hasExactSynonym "Ulcer of ankle"@en, "Ulcer of calf"@en, "Ulcer of heel and midfoot"@en, "Ulcer of thigh"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8529"^^xsd:string ; a owl:Class ; rdfs:label "ulcer of lower limbs"^^xsd:string ; rdfs:subClassOf obo:DOID_8549 . obo:DOID_853 obo:IAO_0000115 "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M35.3"^^xsd:string, "ICD9CM:725"^^xsd:string, "MESH:D011111"^^xsd:string, "NCI:C85018"^^xsd:string, "SNOMEDCT_US_2021_03_01:202834009"^^xsd:string, "UMLS_CUI:C0032533"^^xsd:string ; oboInOwl:hasExactSynonym "Polymyalgia rheumatica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:853"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polymyalgia rheumatica"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_854, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_8530 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8530"^^xsd:string ; a owl:Class ; rdfs:label "obsolete toxic gastroenteritis and colitis"^^xsd:string ; owl:deprecated true . obo:DOID_8533 obo:IAO_0000115 "A pharynx cancer that is located_in the hypopharynx."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12202"^^xsd:string, "DOID:8532"^^xsd:string, "DOID:9160"^^xsd:string ; oboInOwl:hasDbXref "GARD:9334"^^xsd:string, "ICD10CM:C13"^^xsd:string, "ICD10CM:C13.2"^^xsd:string, "ICD9CM:148"^^xsd:string, "ICD9CM:148.3"^^xsd:string, "MESH:D007012"^^xsd:string, "NCI:C7190"^^xsd:string, "SNOMEDCT_US_2021_03_01:93831006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93968005"^^xsd:string, "UMLS_CUI:C0153398"^^xsd:string, "UMLS_CUI:C0496770"^^xsd:string ; oboInOwl:hasExactSynonym "Hypopharyngeal cancer"@en, "malignant Hypopharyngeal tumor"@en, "malignant neoplasm of hypopharynx"@en, "malignant tumor of hypopharynx"@en, "malignant tumour of hypopharynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8533"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypopharynx cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060119 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060119 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001051 ] ) ] . obo:DOID_8534 oboInOwl:hasDbXref "ICD10CM:K21.9"^^xsd:string, "ICD9CM:530.81"^^xsd:string, "MESH:D005764"^^xsd:string, "NCI:C26781"^^xsd:string, "OMIM:109350"^^xsd:string, "SNOMEDCT_US_2021_03_01:235595009"^^xsd:string, "UMLS_CUI:C0017168"^^xsd:string ; oboInOwl:hasExactSynonym "Acid reflux"@en, "GERD"@en, "GERD - Gastro-esophageal reflux disease"@en, "Gastresophageal reflux"@en, "Gastro-esophageal reflux"@en, "Gastroesophageal reflux"@en, "Gastroesophageal reflux disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8534"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gastroesophageal reflux disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 . obo:DOID_8535 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9101"^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster ophthalmicus"@en, "Herpes zoster ophthalmicus (disorder)"@en, "Herpes zoster with ophthalmic complication (disorder)"@en, "Herpes zoster with other ophthalmic complication (disorder)"@en, "Ophthalmic herpes zoster infection"@en, "herpes zoster with other ophthalmic complications"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ophthalmic herpes zoster"^^xsd:string ; owl:deprecated true . obo:DOID_8536 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8554"^^xsd:string, "DOID:8555"^^xsd:string, "DOID:8772"^^xsd:string, "DOID:8801"^^xsd:string, "DOID:9085"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B02"^^xsd:string, "ICD9CM:053"^^xsd:string, "MESH:D006562"^^xsd:string, "NCI:C71079"^^xsd:string, "SNOMEDCT_US_2021_03_01:186514003"^^xsd:string, "UMLS_CUI:C0019360"^^xsd:string ; oboInOwl:hasExactSynonym "Shingles"@en, "herpes zona"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8536"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "herpes zoster"^^xsd:string ; rdfs:subClassOf obo:DOID_863, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10335 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000435 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] . obo:DOID_8538 oboInOwl:hasAlternativeId "DOID:8537"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:200.0"^^xsd:string, "MESH:D008228"^^xsd:string, "NCI:C27824"^^xsd:string, "OMIM:267730"^^xsd:string, "SNOMEDCT_US_2021_03_01:154579006"^^xsd:string, "UMLS_CUI:C0024302"^^xsd:string ; oboInOwl:hasExactSynonym "histiocytic lymphoma"@en, "large-cell Lymphomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8538"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "reticulosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073 . obo:DOID_8539 oboInOwl:hasExactSynonym "Manic disorder, recurrent episode, in full remission"@en, "recurrent manic episodes, in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8539"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent manic episodes in full remission"^^xsd:string ; owl:deprecated true . obo:DOID_854 obo:IAO_0000115 "A connective tissue disease that characterized by connective tissue disease that has_material_basis in inheritable defects in collagen."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003095"^^xsd:string, "NCI:C27204"^^xsd:string, "SNOMEDCT_US_2021_03_01:268048008"^^xsd:string, "UMLS_CUI:C0009326"^^xsd:string ; oboInOwl:hasExactSynonym "collagen disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:854"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "collagen disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_8540 oboInOwl:hasExactSynonym "Sezary's disease involving lymph nodes of head, face and neck"@en, "Sezary's disease of lymph nodes of head, face and neck (disorder)"@en, "Szary's disease of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8540"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8541 oboInOwl:hasAlternativeId "DOID:8790"^^xsd:string ; oboInOwl:hasDbXref "GARD:7629"^^xsd:string, "ICD10CM:C84.1"^^xsd:string, "ICD9CM:202.2"^^xsd:string, "MESH:D012751"^^xsd:string, "NCI:C3366"^^xsd:string, "SNOMEDCT_US_2021_03_01:4950009"^^xsd:string, "UMLS_CUI:C0036920"^^xsd:string ; oboInOwl:hasExactSynonym "Sezary disease"@en, "Sezary syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8541"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Sezary's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060061 . obo:DOID_8542 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb"@en ; oboInOwl:id "DOID:8542"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8543 oboInOwl:hasDbXref "ICD10CM:C81.4"^^xsd:string, "ICD9CM:201.4"^^xsd:string, "MESH:D006689"^^xsd:string, "NCI:C6913"^^xsd:string, "SNOMEDCT_US_2021_03_01:128799007"^^xsd:string, "UMLS_CUI:C1266194"^^xsd:string ; oboInOwl:hasExactSynonym "Hodgkin lymphoma, lymphocyte-rich"@en, "Hodgkin lymphoma, lymphocytic-histiocytic predominance"@en, "Hodgkin's disease, lymphocyte predominance"@en, "Lymphocyte Rich Hodgkin's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8543"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Hodgkin's lymphoma, lymphocytic-histiocytic predominance"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_8544 obo:IAO_0000115 "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions."^^xsd:string ; oboInOwl:hasDbXref "GARD:7121"^^xsd:string, "ICD10CM:R53.82"^^xsd:string, "ICD9CM:780.71"^^xsd:string, "MESH:D015673"^^xsd:string, "NCI:C3037"^^xsd:string, "SNOMEDCT_US_2021_03_01:193054000"^^xsd:string, "UMLS_CUI:C0015674"^^xsd:string ; oboInOwl:hasExactSynonym "CFS"@en, "Myalgic encephalitis"@en, "Myalgic encephalomyelitis"@en, "Postviral fatigue syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8544"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "No OMIM mapping, confirmed by DO. [LS]."^^xsd:string ; rdfs:label "chronic fatigue syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_8545 obo:IAO_0000115 "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine)."^^xsd:string ; oboInOwl:hasDbXref "GARD:6964"^^xsd:string, "ICD10CM:T88.3"^^xsd:string, "ICD9CM:995.86"^^xsd:string, "MESH:D008305"^^xsd:string, "NCI:C84869"^^xsd:string, "OMIM:PS145600"^^xsd:string, "ORDO:423"^^xsd:string, "SNOMEDCT_US_2021_03_01:111738008"^^xsd:string, "UMLS_CUI:C0024591"^^xsd:string ; oboInOwl:hasExactSynonym "anesthesia related hyperthermia"@en, "malignant hyperpyrexia due to anesthesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8545"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "malignant hyperthermia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_66, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_8549 oboInOwl:hasAlternativeId "DOID:8548"^^xsd:string, "DOID:8733"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L98.4"^^xsd:string, "ICD9CM:707"^^xsd:string, "SNOMEDCT_US_2021_03_01:156423009"^^xsd:string, "UMLS_CUI:C0157738"^^xsd:string ; oboInOwl:hasExactSynonym "Callous ulcer"@en, "Indolent ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8549"^^xsd:string ; a owl:Class ; rdfs:label "chronic ulcer of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_8552 obo:IAO_0000115 "A myeloid leukemia that is characterized by over production of white blood cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8551"^^xsd:string, "DOID:8606"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000339"^^xsd:string, "GARD:6105"^^xsd:string, "ICD9CM:205.1"^^xsd:string, "KEGG:05220"^^xsd:string, "OMIM:608232"^^xsd:string, "ORDO:521"^^xsd:string, "SNOMEDCT_US_2021_03_01:154592009"^^xsd:string, "UMLS_CUI:C0023473"^^xsd:string ; oboInOwl:hasExactSynonym "CML"@en, "CML - chronic Myelogenous Leukemia"@en, "Myeloid Leukemia, chronic"@en, "chronic granulocytic leukaemia"@en, "chronic granulocytic leukemia"@en, "chronic myelogenous leukaemia"@en, "chronic myelogenous leukemia"@en, "chronic myeloid leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8552"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "chronic myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8692 . obo:DOID_8553 oboInOwl:hasDbXref "GARD:7510"^^xsd:string, "ICD10CM:L88"^^xsd:string, "ICD9CM:686.01"^^xsd:string, "MESH:D017511"^^xsd:string, "SNOMEDCT_US_2021_03_01:74578003"^^xsd:string, "UMLS_CUI:C0085652"^^xsd:string ; oboInOwl:hasExactSynonym "Pyoderma gangrenosum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8553"^^xsd:string ; a owl:Class ; rdfs:label "pyoderma gangrenosum"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 ; skos:exactMatch "MESH:D017511"^^xsd:string . obo:DOID_8556 oboInOwl:hasDbXref "ICD10CM:C10.0"^^xsd:string, "ICD9CM:146.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:94132005"^^xsd:string, "UMLS_CUI:C0153386"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of vallecula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8556"^^xsd:string ; a owl:Class ; rdfs:label "vallecula cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8557 . obo:DOID_8557 obo:IAO_0000115 "A pharynx cancer that is located_in the oropharynx."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8684"^^xsd:string, "DOID:8851"^^xsd:string, "DOID:8949"^^xsd:string, "DOID:9168"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C10"^^xsd:string, "ICD10CM:C10.2"^^xsd:string, "ICD10CM:C10.3"^^xsd:string, "ICD10CM:C10.8"^^xsd:string, "ICD9CM:146"^^xsd:string, "ICD9CM:146.5"^^xsd:string, "ICD9CM:146.6"^^xsd:string, "ICD9CM:146.7"^^xsd:string, "NCI:C7398"^^xsd:string, "SNOMEDCT_US_2021_03_01:187686007"^^xsd:string, "SNOMEDCT_US_2021_03_01:93933005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93971002"^^xsd:string, "UMLS_CUI:C0153382"^^xsd:string, "UMLS_CUI:C0153388"^^xsd:string, "UMLS_CUI:C0153389"^^xsd:string, "UMLS_CUI:C0153390"^^xsd:string ; oboInOwl:hasExactSynonym "Oropharyngeal carcinoma"@en, "malignant Oropharyngeal tumor"@en, "malignant tumor of oropharynx"@en, "malignant tumour of mesopharynx"@en, "oropharyngeal cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8557"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "oropharynx cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060119 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001729 ] ) ] . obo:DOID_8559 oboInOwl:hasExactSynonym "carcinoma in situ of other and unspecified female genital organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8559"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma in situ of female genital organs"^^xsd:string ; owl:deprecated true . obo:DOID_856 obo:IAO_0000115 "A multiple carboxylase deficiency that involves a deficiency in biotinidase."^^xsd:string ; oboInOwl:hasDbXref "GARD:894"^^xsd:string, "ICD10CM:D81.810"^^xsd:string, "MESH:D028921"^^xsd:string, "NCI:C84598"^^xsd:string, "OMIM:253260"^^xsd:string, "SNOMEDCT_US_2021_03_01:8808004"^^xsd:string, "UMLS_CUI:C0220754"^^xsd:string ; oboInOwl:hasExactSynonym "BTD deficiency"@en, "Juvenile-onset multiple carboxylase deficiency"@en, "Late-onset multiple carboxylase deficiency"@en, "deficiency of biotinidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "biotinidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_857 . obo:DOID_8560 oboInOwl:hasExactSynonym "carcinoma in situ of breast and genitourinary system (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8560"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma in situ of breast and genitourinary system"^^xsd:string ; owl:deprecated true . obo:DOID_8564 oboInOwl:hasAlternativeId "DOID:8563"^^xsd:string, "DOID:8605"^^xsd:string, "DOID:8975"^^xsd:string, "DOID:9031"^^xsd:string, "DOID:9135"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C00"^^xsd:string, "ICD9CM:140"^^xsd:string, "ICD9CM:140.6"^^xsd:string, "ICD9CM:140.8"^^xsd:string, "MESH:D008048"^^xsd:string, "NCI:C7485"^^xsd:string, "SNOMEDCT_US_2021_03_01:187626009"^^xsd:string, "SNOMEDCT_US_2021_03_01:93762003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93869001"^^xsd:string, "UMLS_CUI:C0153340"^^xsd:string, "UMLS_CUI:C0153346"^^xsd:string, "UMLS_CUI:C0153347"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of commissure of lip"@en, "malignant neoplasm of external Lip, not specified as upper or lower"@en, "malignant neoplasm of labial commissure of lip"@en, "malignant neoplasm of lip"@en, "malignant neoplasm of lip, external"@en, "malignant neoplasm of lip, inner aspect"@en, "malignant neoplasm of lip, vermilion border"@en, "malignant neoplasm of lower lip, buccal aspect"@en, "malignant neoplasm of lower lip, inner aspect"@en, "malignant neoplasm of lower lip, mucosa"@en, "malignant neoplasm of lower lip, oral aspect"@en, "malignant neoplasm of oral aspect of lip, not specified whether upper or lower"@en, "malignant neoplasm of other sites of lip"@en, "malignant neoplasm of vermilion border of lip"@en, "malignant tumor of commissure of lip"@en, "malignant tumor of labial mucosa"@en, "malignant tumor of lip"@en, "malignant tumor of lower labial mucosa"@en, "malignant tumor of the Lip"@en, "malignant tumour of labial commissure"@en, "malignant tumour of lip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8564"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lip cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618, obo:DOID_9297 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001833 ] ) ] . obo:DOID_8566 obo:IAO_0000115 "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8763"^^xsd:string, "DOID:9012"^^xsd:string, "DOID:9239"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B00.9"^^xsd:string, "ICD9CM:054"^^xsd:string, "MESH:D006561"^^xsd:string, "NCI:C155871"^^xsd:string, "SNOMEDCT_US_2021_03_01:88594005"^^xsd:string, "UMLS_CUI:C0019348"^^xsd:string ; oboInOwl:hasExactSynonym "Herpesvirus hominis disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8566"^^xsd:string ; a owl:Class ; rdfs:label "herpes simplex"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10298 obo:NCBITaxon_10310 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000165 obo:UBERON_0001456 obo:UBERON_0005156 ) ] ] . obo:DOID_8567 obo:IAO_0000115 "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060059"^^xsd:string, "DOID:8652"^^xsd:string, "DOID:8671"^^xsd:string, "DOID:8685"^^xsd:string, "DOID:8710"^^xsd:string, "DOID:8715"^^xsd:string, "DOID:8841"^^xsd:string, "DOID:8953"^^xsd:string, "DOID:9096"^^xsd:string, "DOID:9107"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000183"^^xsd:string, "GARD:2714"^^xsd:string, "ICD10CM:C81"^^xsd:string, "ICD9CM:201"^^xsd:string, "MESH:D006689"^^xsd:string, "NCI:C9357"^^xsd:string, "OMIM:236000"^^xsd:string, "OMIM:300221"^^xsd:string, "OMIM:400021"^^xsd:string, "ORDO:98293"^^xsd:string, "SNOMEDCT_US_2021_03_01:118599009"^^xsd:string, "UMLS_CUI:C0019829"^^xsd:string ; oboInOwl:hasExactSynonym "HL"@en, "Hodgkin disease"@en, "Hodgkin lymphoma"@en, "Hodgkin's sarcoma"@en, "Hodgkins lymphoma"@en, "stage I Subdiaphragmatic Hodgkin Lymphoma"@en, "stage II Subdiaphragmatic Hodgkin Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8567"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Hodgkin's lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058 ; skos:exactMatch "MESH:D006689"^^xsd:string, "NCI:C9357"^^xsd:string . obo:DOID_8568 obo:IAO_0000115 "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B27"^^xsd:string, "ICD9CM:075"^^xsd:string, "MESH:D007244"^^xsd:string, "NCI:C34726"^^xsd:string, "SNOMEDCT_US_2021_03_01:154359004"^^xsd:string, "UMLS_CUI:C0021345"^^xsd:string ; oboInOwl:hasExactSynonym "Filatov's disease"@en, "Gammaherpesviral mononucleosis"@en, "Monocytic angina"@en, "Pfeiffer's disease"@en, "glandular fever"@en, "mononucleosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8568"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "infectious mononucleosis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10376 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000531 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_857 obo:IAO_0000115 "An amino acid metabolic disorder that involves failures of carboxylation enzymes."^^xsd:string ; oboInOwl:hasDbXref "GARD:3824"^^xsd:string, "ICD10CM:D81.81"^^xsd:string, "MESH:D009100"^^xsd:string, "SNOMEDCT_US_2021_03_01:62151000119109"^^xsd:string, "UMLS_CUI:C0026755"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:857"^^xsd:string ; a owl:Class ; rdfs:label "multiple carboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2978, obo:DOID_9252 ; skos:exactMatch "MESH:D009100"^^xsd:string . obo:DOID_8573 oboInOwl:hasDbXref "ICD10CM:L44.1"^^xsd:string, "ICD9CM:697.1"^^xsd:string, "MESH:D017513"^^xsd:string, "SNOMEDCT_US_2021_03_01:41890004"^^xsd:string, "UMLS_CUI:C0162849"^^xsd:string ; oboInOwl:hasExactSynonym "Pinkus' disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8573"^^xsd:string ; a owl:Class ; rdfs:label "lichen nitidus"^^xsd:string ; rdfs:subClassOf obo:DOID_8574 . obo:DOID_8574 oboInOwl:hasDbXref "ICD10CM:L28.0"^^xsd:string, "ICD9CM:697.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:156376003"^^xsd:string, "UMLS_CUI:C0023643"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8574"^^xsd:string ; a owl:Class ; rdfs:label "lichen disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_8577 obo:IAO_0000115 "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8576"^^xsd:string, "DOID:9016"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000729"^^xsd:string, "ICD10CM:K51"^^xsd:string, "ICD9CM:556"^^xsd:string, "ICD9CM:556.5"^^xsd:string, "MESH:D003093"^^xsd:string, "NCI:C2952"^^xsd:string, "SNOMEDCT_US_2021_03_01:196988003"^^xsd:string, "SNOMEDCT_US_2021_03_01:441971007"^^xsd:string, "UMLS_CUI:C0009324"^^xsd:string, "UMLS_CUI:C0375359"^^xsd:string ; oboInOwl:hasExactSynonym "Left-sided ulcerative colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "ulcerative colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, obo:DOID_0060180, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_8578 oboInOwl:hasDbXref "ICD10CM:C05.1"^^xsd:string, "ICD9CM:145.3"^^xsd:string, "NCI:C3529"^^xsd:string, "SNOMEDCT_US_2021_03_01:94049001"^^xsd:string, "UMLS_CUI:C0153376"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of soft palate"@en, "malignant tumor of the soft Palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8578"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "soft palate cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001733 ] ) ] . obo:DOID_8580 oboInOwl:hasAlternativeId "DOID:8579"^^xsd:string ; oboInOwl:hasExactSynonym "Stewart's granuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8580"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis"^^xsd:string ; owl:deprecated true . obo:DOID_8583 oboInOwl:hasExactSynonym "Burkitt's lymphoma of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8583"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8584 obo:IAO_0000115 "A mature B-cell neoplasm of B-cells found in the germinal center."^^xsd:string ; oboInOwl:hasDbXref "GARD:5973"^^xsd:string, "ICD10CM:C83.7"^^xsd:string, "ICD9CM:200.2"^^xsd:string, "MESH:D002051"^^xsd:string, "NCI:C2912"^^xsd:string, "OMIM:113970"^^xsd:string, "ORDO:543"^^xsd:string, "SNOMEDCT_US_2021_03_01:118617000"^^xsd:string, "UMLS_CUI:C0006413"^^xsd:string ; oboInOwl:hasExactSynonym "Burkitt lymphoma/leukaemia"@en, "Burkitt's Lymphoma"@en, "Burkitt's tumor"@en, "Burkitt's tumor or lymphoma"@en, "malignant lymphoma, Burkitt's type"@en, "small Non-Cleaved cell Lymphoma, Burkitt's type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8584"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Burkitt lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_706 . obo:DOID_8586 oboInOwl:hasAlternativeId "DOID:8585"^^xsd:string, "DOID:8796"^^xsd:string ; oboInOwl:hasExactSynonym "Cervix Dysplasia"@en, "Dysplasia of cervix (disorder)"@en, "Dysplasia of cervix (uteri)"@en, "Dysplasia of cervix NOS (disorder)"@en, "Dysplasia of cervix uteri"@en, "Dysplasia of cervix uteri (disorder)"@en, "Low-grade Intraepithelial Neoplasia of Cervix Uteri"@en, "Mild dysplasia of cervix"@en, "Moderate dysplasia of cervix"@en, "Moderate squamous Dysplasia of the Cervix"@en, "cervical dysplasia"@en, "cervical dysplasia NOS"@en, "cervical intraepithelial neoplasia I [CIN I]"@en, "cervical intraepithelial neoplasia grade 1"@en, "cervical intraepithelial neoplasia grade 1 (disorder)"@en, "cervical intraepithelial neoplasia grade 2"@en, "cervical intraepithelial neoplasia grade 2 (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8586"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dysplasia of cervix"^^xsd:string ; owl:deprecated true . obo:DOID_8587 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8587"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites"^^xsd:string ; owl:deprecated true . obo:DOID_859 obo:IAO_0000115 "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase."^^xsd:string ; oboInOwl:hasDbXref "GARD:2721"^^xsd:string, "ICD10CM:D81.818"^^xsd:string, "MESH:D028922"^^xsd:string, "NCI:C98842"^^xsd:string, "OMIM:253270"^^xsd:string, "SNOMEDCT_US_2021_03_01:15307001"^^xsd:string, "UMLS_CUI:C0268581"^^xsd:string ; oboInOwl:hasExactSynonym "Biotin-(propionyl-CoA-carboxylase) ligase deficiency"@en, "Multiple carboxylase deficiency - neonatal onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:859"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "holocarboxylase synthetase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_857 . obo:DOID_8590 oboInOwl:hasDbXref "ICD9CM:557.0"^^xsd:string, "NCI:C34356"^^xsd:string, "SNOMEDCT_US_2021_03_01:91489000"^^xsd:string, "UMLS_CUI:C0001363"^^xsd:string ; oboInOwl:hasExactSynonym "acute GIT vascular insuffic."@en, "acute gastrointestinal tract vascular insuffic."@en, "acute intestinal Ischemia"@en, "acute intestinal vascular insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8590"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute vascular insufficiency of intestine"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_8592 oboInOwl:hasExactSynonym "Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8592"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8593 oboInOwl:hasAlternativeId "DOID:9194"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C93.1"^^xsd:string, "ICD9CM:206.1"^^xsd:string, "MESH:D007951"^^xsd:string, "NCI:C34774"^^xsd:string, "SNOMEDCT_US_2021_03_01:46236001"^^xsd:string, "UMLS_CUI:C0023466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8527 . obo:DOID_8596 obo:IAO_0000115 "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8597"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A38"^^xsd:string, "ICD9CM:034"^^xsd:string, "ICD9CM:034.1"^^xsd:string, "MESH:D012541"^^xsd:string, "NCI:C94575"^^xsd:string, "SNOMEDCT_US_2021_03_01:154301006"^^xsd:string, "SNOMEDCT_US_2021_03_01:154303009"^^xsd:string, "UMLS_CUI:C0036285"^^xsd:string, "UMLS_CUI:C0343487"^^xsd:string ; oboInOwl:hasExactSynonym "Scarlatina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8596"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scarlet fever"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_8598 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8598"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mild degree recurrent episode manic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8599 oboInOwl:hasExactSynonym "Sezary's disease of lymph nodes of inguinal region and lower limb (disorder)"@en, "Szary's disease of lymph nodes of inguinal region and/or lower limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8599"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8600 oboInOwl:hasExactSynonym "Excessive serotonin secretion"@en, "Hormone secretion by carcinoid tumors"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hormonal tumour"@en ; oboInOwl:id "DOID:8600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoid syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_8601 oboInOwl:hasDbXref "ICD10CM:C03.0"^^xsd:string, "ICD9CM:143.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:94114005"^^xsd:string, "UMLS_CUI:C0153365"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of upper gingiva"@en, "malignant tumour of upper gum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8601"^^xsd:string ; a owl:Class ; rdfs:label "upper gum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8602 . obo:DOID_8602 oboInOwl:hasAlternativeId "DOID:8734"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C03"^^xsd:string, "ICD9CM:143"^^xsd:string, "NCI:C9317"^^xsd:string, "SNOMEDCT_US_2021_03_01:93819009"^^xsd:string, "UMLS_CUI:C0153364"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Gingival tumor"@en, "malignant neoplasm of gum"@en, "malignant neoplasm of other sites of gum"@en, "malignant tumor of gum"@en, "malignant tumour of gingiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001828 ] ) ] . obo:DOID_8604 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes"@en ; oboInOwl:id "DOID:8604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8607 obo:IAO_0000115 "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:054.6"^^xsd:string, "NCI:C128402"^^xsd:string, "SNOMEDCT_US_2021_03_01:43891009"^^xsd:string, "UMLS_CUI:C0153042"^^xsd:string ; oboInOwl:hasExactSynonym "Herpetic felon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "herpetic whitlow"^^xsd:string ; rdfs:subClassOf obo:DOID_8566, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_8609 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8609"^^xsd:string ; a owl:Class ; rdfs:label "obsolete moderate degree recurrent episode manic disease"^^xsd:string ; owl:deprecated true . obo:DOID_8611 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8611"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug induced sleep disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8615 oboInOwl:hasAlternativeId "DOID:8889"^^xsd:string ; oboInOwl:hasExactSynonym "spontaneous abortion complicated by shock (disorder)"@en, "spontaneous abortion, unspecified, complicated by shock"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8615"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spontaneous abortion complicated by shock"^^xsd:string ; owl:deprecated true . obo:DOID_8616 oboInOwl:hasDbXref "GARD:7379"^^xsd:string, "ICD10CM:N48.6"^^xsd:string, "ICD9CM:607.85"^^xsd:string, "MESH:D010411"^^xsd:string, "NCI:C3316"^^xsd:string, "OMIM:171000"^^xsd:string, "SNOMEDCT_US_2021_03_01:155931002"^^xsd:string, "UMLS_CUI:C0030848"^^xsd:string ; oboInOwl:hasExactSynonym "Induratio penis plastica"@en, "Peyronie disease"@en, "Peyronie's Fibromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Peyronie's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1529 . obo:DOID_8618 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the oral cavity."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050627"^^xsd:string, "DOID:8617"^^xsd:string, "DOID:9049"^^xsd:string, "DOID:9055"^^xsd:string ; oboInOwl:hasDbXref "GARD:9360"^^xsd:string, "ICD10CM:C04"^^xsd:string, "ICD10CM:C04.0"^^xsd:string, "ICD10CM:C04.1"^^xsd:string, "ICD9CM:144"^^xsd:string, "ICD9CM:144.0"^^xsd:string, "ICD9CM:144.1"^^xsd:string, "NCI:C9318"^^xsd:string, "SNOMEDCT_US_2021_03_01:93672006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93802007"^^xsd:string, "SNOMEDCT_US_2021_03_01:93860002"^^xsd:string, "UMLS_CUI:C0153368"^^xsd:string, "UMLS_CUI:C0153369"^^xsd:string, "UMLS_CUI:C0496758"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of floor of mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8618"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "oral cavity cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_8619 obo:IAO_0000115 "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.13"^^xsd:string, "ICD9CM:327.13"^^xsd:string, "MESH:D006970"^^xsd:string, "SNOMEDCT_US_2021_03_01:426451004"^^xsd:string, "UMLS_CUI:C0751226"^^xsd:string ; oboInOwl:hasExactSynonym "primary recurrent hypersomnia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8619"^^xsd:string ; a owl:Class ; rdfs:label "recurrent hypersomnia"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_862 oboInOwl:hasDbXref "ICD10CM:G83.0"^^xsd:string, "ICD9CM:344.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:192968004"^^xsd:string, "UMLS_CUI:C0154701"^^xsd:string ; oboInOwl:hasExactSynonym "Diplegia of upper limbs"@en, "Diplegia, upper"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:862"^^xsd:string ; a owl:Class ; rdfs:label "diplegia of upper limb"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_8620 oboInOwl:hasExactSynonym "Reticulosarcoma of intrapelvic lymph nodes"@en, "Reticulosarcoma of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8620"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8622 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8621"^^xsd:string, "DOID:8963"^^xsd:string, "DOID:9112"^^xsd:string ; oboInOwl:hasDbXref "GARD:3434"^^xsd:string, "ICD10CM:B05"^^xsd:string, "ICD9CM:055"^^xsd:string, "MESH:D008457"^^xsd:string, "NCI:C96406"^^xsd:string, "SNOMEDCT_US_2021_03_01:154338006"^^xsd:string, "UMLS_CUI:C0025007"^^xsd:string ; oboInOwl:hasExactSynonym "morbilli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8622"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "measles"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11234 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_8623 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8623"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions and disruptions of pupillary membranes"^^xsd:string ; owl:deprecated true . obo:DOID_8625 obo:IAO_0000115 "A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain."^^xsd:string ; oboInOwl:hasExactSynonym "Post-herpetic trigeminal neuralgia"@en, "Post-herpetic trigeminal neuralgia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8625"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postherpetic trigeminal neuralgia"^^xsd:string ; owl:deprecated true . obo:DOID_8626 oboInOwl:hasExactSynonym "Sezary's disease of spleen (disorder)"@en, "Szary's disease of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8626"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8627 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb"@en ; oboInOwl:id "DOID:8627"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8628 oboInOwl:hasAlternativeId "DOID:9047"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C81.3"^^xsd:string, "ICD9CM:201.7"^^xsd:string, "MESH:D006689"^^xsd:string, "NCI:C9283"^^xsd:string, "SNOMEDCT_US_2021_03_01:112687003"^^xsd:string, "UMLS_CUI:C0152267"^^xsd:string ; oboInOwl:hasExactSynonym "Hodgkin lymphoma, lymphocyte depletion"@en, "Hodgkin's disease, lymphocytic depletion"@en, "Hodgkin's lymphocytic depletion of unspecified site"@en, "Lymphocyte-Depleted Classical Hodgkin Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8628"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Hodgkin's lymphoma, lymphocytic depletion"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_863 obo:IAO_0000115 "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G98"^^xsd:string, "ICD9CM:349.9"^^xsd:string, "MESH:D009422"^^xsd:string, "NCI:C26835"^^xsd:string, "SNOMEDCT_US_2021_03_01:155262005"^^xsd:string, "UMLS_CUI:C0027765"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:863"^^xsd:string ; oboInOwl:inSubset doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "nervous system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ) ] . obo:DOID_8630 oboInOwl:hasAlternativeId "DOID:8984"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C00.0"^^xsd:string, "ICD10CM:C00.3"^^xsd:string, "ICD9CM:140.0"^^xsd:string, "ICD9CM:140.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:187609003"^^xsd:string, "SNOMEDCT_US_2021_03_01:94137004"^^xsd:string, "UMLS_CUI:C0432579"^^xsd:string, "UMLS_CUI:C0474962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8630"^^xsd:string ; a owl:Class ; rdfs:label "upper lip cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8564 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001834 ] ) ] . obo:DOID_8632 obo:IAO_0000115 "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12761"^^xsd:string, "DOID:12762"^^xsd:string, "DOID:12764"^^xsd:string, "DOID:12766"^^xsd:string, "DOID:12767"^^xsd:string, "DOID:12768"^^xsd:string, "DOID:12770"^^xsd:string, "DOID:12771"^^xsd:string, "DOID:12772"^^xsd:string, "DOID:12774"^^xsd:string, "DOID:12775"^^xsd:string, "DOID:12776"^^xsd:string, "DOID:12777"^^xsd:string, "DOID:12778"^^xsd:string, "DOID:6480"^^xsd:string, "DOID:7239"^^xsd:string, "DOID:8631"^^xsd:string ; oboInOwl:hasDbXref "GARD:6814"^^xsd:string, "ICD10CM:C46"^^xsd:string, "ICD10CM:C46.0"^^xsd:string, "ICD10CM:C46.1"^^xsd:string, "ICD10CM:C46.2"^^xsd:string, "ICD10CM:C46.3"^^xsd:string, "ICD10CM:C46.4"^^xsd:string, "ICD10CM:C46.5"^^xsd:string, "ICD9CM:176"^^xsd:string, "ICD9CM:176.0"^^xsd:string, "ICD9CM:176.1"^^xsd:string, "ICD9CM:176.2"^^xsd:string, "ICD9CM:176.3"^^xsd:string, "ICD9CM:176.4"^^xsd:string, "ICD9CM:176.5"^^xsd:string, "MESH:D012514"^^xsd:string, "NCI:C27500"^^xsd:string, "NCI:C3550"^^xsd:string, "NCI:C3551"^^xsd:string, "NCI:C4578"^^xsd:string, "NCI:C4579"^^xsd:string, "NCI:C5363"^^xsd:string, "NCI:C5523"^^xsd:string, "NCI:C5529"^^xsd:string, "NCI:C5602"^^xsd:string, "NCI:C5706"^^xsd:string, "NCI:C5842"^^xsd:string, "NCI:C6377"^^xsd:string, "NCI:C6749"^^xsd:string, "NCI:C7006"^^xsd:string, "NCI:C9087"^^xsd:string, "SNOMEDCT_US_2021_03_01:109385007"^^xsd:string, "SNOMEDCT_US_2021_03_01:109388009"^^xsd:string, "SNOMEDCT_US_2021_03_01:109390005"^^xsd:string, "SNOMEDCT_US_2021_03_01:188029000"^^xsd:string, "SNOMEDCT_US_2021_03_01:188144002"^^xsd:string, "SNOMEDCT_US_2021_03_01:188775002"^^xsd:string, "SNOMEDCT_US_2021_03_01:255114007"^^xsd:string, "SNOMEDCT_US_2021_03_01:255115008"^^xsd:string, "UMLS_CUI:C0036220"^^xsd:string, "UMLS_CUI:C0153560"^^xsd:string, "UMLS_CUI:C0153561"^^xsd:string, "UMLS_CUI:C0153562"^^xsd:string, "UMLS_CUI:C0153563"^^xsd:string, "UMLS_CUI:C0153564"^^xsd:string, "UMLS_CUI:C0153565"^^xsd:string, "UMLS_CUI:C0346935"^^xsd:string, "UMLS_CUI:C0346936"^^xsd:string, "UMLS_CUI:C1332265"^^xsd:string, "UMLS_CUI:C1332847"^^xsd:string, "UMLS_CUI:C1333453"^^xsd:string, "UMLS_CUI:C1333744"^^xsd:string, "UMLS_CUI:C1333776"^^xsd:string, "UMLS_CUI:C1334318"^^xsd:string, "UMLS_CUI:C1334457"^^xsd:string, "UMLS_CUI:C1335372"^^xsd:string, "UMLS_CUI:C1335509"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival Kaposi's sarcoma"@en, "Corneal Kaposi's sarcoma"@en, "Cutaneous Kaposi's sarcoma"@en, "Kaposi sarcoma"@en, "Kaposi's sarcoma of Heart"@en, "Kaposi's sarcoma of anus"@en, "Kaposi's sarcoma of central nervous system"@en, "Kaposi's sarcoma of conjunctiva"@en, "Kaposi's sarcoma of cornea"@en, "Kaposi's sarcoma of esophagus"@en, "Kaposi's sarcoma of gastrointestinal sites"@en, "Kaposi's sarcoma of lung"@en, "Kaposi's sarcoma of lymph nodes"@en, "Kaposi's sarcoma of palate"@en, "Kaposi's sarcoma of penis"@en, "Kaposi's sarcoma of skin"@en, "Kaposi's sarcoma of soft tissue"@en, "Kaposi's sarcoma of soft tissues"@en, "Kaposi's sarcoma of the CNS"@en, "Kaposi's sarcoma of the gallbladder"@en, "Kaposi's sarcoma of the prostate"@en, "Kaposi's sarcoma, lung"@en, "Kaposi's sarcoma, skin"@en, "Palate Kaposi's sarcoma"@en, "anal Kaposi's sarcoma"@en, "cardiac Kaposi's sarcoma"@en, "central nervous system Kaposi's sarcoma"@en, "conjunctival Kaposi's sarcoma"@en, "corneal Kaposi's sarcoma"@en, "cutaneous Kaposi's sarcoma"@en, "esophageal Kaposi's sarcoma"@en, "gallbladder Kaposi's sarcoma"@en, "gastric Kaposi's sarcoma"@en, "intestinal Kaposi's sarcoma"@en, "lymph node Kaposi's sarcoma"@en, "lymphadenopathic Kaposi's sarcoma"@en, "palate Kaposi's sarcoma"@en, "penis Kaposi's sarcoma"@en, "prostate Kaposi's sarcoma"@en, "pulmonary Kaposi's sarcoma"@en, "soft tissue Kaposi's sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "African lymphadenopathic Kaposi's sarcoma"@en, "Kaposi's sarcoma-associated herpesvirus (KSHV)"@en ; oboInOwl:id "DOID:8632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Kaposi's sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_201, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37296 ] . obo:DOID_8633 oboInOwl:hasDbXref "ICD9CM:557.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:266448009"^^xsd:string, "UMLS_CUI:C0311262"^^xsd:string ; oboInOwl:hasExactSynonym "CMI - chronic mesenteric ischaemia"@en, "chronic mesenteric ischemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8633"^^xsd:string ; a owl:Class ; rdfs:label "chronic intestinal vascular insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_8634 obo:IAO_0000115 "An in situ carcinoma that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D07.5"^^xsd:string, "ICD9CM:233.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:92691004"^^xsd:string, "UMLS_CUI:C0154088"^^xsd:string ; oboInOwl:hasExactSynonym "PIN III"@en, "carcinoma in situ of prostate"@en, "grade III PIN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_47, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] ) ] . obo:DOID_8635 oboInOwl:hasDbXref "ICD10CM:C05.2"^^xsd:string, "ICD9CM:145.4"^^xsd:string, "NCI:C35177"^^xsd:string, "SNOMEDCT_US_2021_03_01:94129007"^^xsd:string, "UMLS_CUI:C0153377"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Uvular tumor"@en, "malignant tumor of uvula"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8635"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uvula cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8578 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001734 ] ) ] . obo:DOID_8638 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8638"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8639 oboInOwl:hasExactSynonym "Alcohol Withdrawal Delirium"@en, "Alcohol withdrawal delirium (disorder)"@en, "Alcoholic delirium"@en, "Delirium tremens"@en, "Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)"@en, "delirium tremens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8639"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alcohol withdrawal delirium"^^xsd:string ; owl:deprecated true . obo:DOID_864 obo:IAO_0000115 "A vein disease that is characterized by inflammation of a vein."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I80"^^xsd:string, "MESH:D010689"^^xsd:string, "NCI:C38003"^^xsd:string, "SNOMEDCT_US_2021_03_01:61599003"^^xsd:string, "UMLS_CUI:C0031542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:864"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "phlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_866, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_8640 oboInOwl:hasExactSynonym "Reticulosarcoma of lymph nodes of multiple sites"@en, "Reticulosarcoma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8640"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8641 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8641"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8642 oboInOwl:hasAlternativeId "DOID:8951"^^xsd:string, "DOID:8972"^^xsd:string ; oboInOwl:hasExactSynonym "Hodgkin paragranuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8642"^^xsd:string ; a owl:Class ; rdfs:label "Hodgkin's paragranuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_8643 oboInOwl:hasAlternativeId "DOID:8897"^^xsd:string, "DOID:8983"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K29.8"^^xsd:string, "ICD9CM:535.6"^^xsd:string, "MESH:D004382"^^xsd:string, "NCI:C94409"^^xsd:string, "SNOMEDCT_US_2021_03_01:155715004"^^xsd:string, "UMLS_CUI:C0013298"^^xsd:string ; oboInOwl:hasExactSynonym "Hemorrhagic duodenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_8644 oboInOwl:hasAlternativeId "DOID:8571"^^xsd:string, "DOID:8572"^^xsd:string, "DOID:8759"^^xsd:string, "DOID:8776"^^xsd:string, "DOID:8777"^^xsd:string, "DOID:9223"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:535.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:196737009"^^xsd:string, "UMLS_CUI:C0029800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8644"^^xsd:string ; a owl:Class ; rdfs:label "gastroduodenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_8645 oboInOwl:hasDbXref "ICD9CM:293.1"^^xsd:string, "MESH:D003693"^^xsd:string, "SNOMEDCT_US_2021_03_01:191507002"^^xsd:string, "UMLS_CUI:C0154333"^^xsd:string ; oboInOwl:hasExactSynonym "Subacute delirium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8645"^^xsd:string ; a owl:Class ; rdfs:label "subacute delirium"^^xsd:string ; rdfs:subClassOf obo:DOID_8646 . obo:DOID_8646 oboInOwl:hasDbXref "ICD9CM:293.89"^^xsd:string, "UMLS_CUI:C0154334"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8646"^^xsd:string ; a owl:Class ; rdfs:label "substance-induced psychosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2468 . obo:DOID_8649 oboInOwl:hasAlternativeId "DOID:8648"^^xsd:string, "DOID:8779"^^xsd:string, "DOID:8900"^^xsd:string, "DOID:8940"^^xsd:string, "DOID:8999"^^xsd:string, "DOID:9058"^^xsd:string, "DOID:9068"^^xsd:string, "DOID:9196"^^xsd:string ; oboInOwl:hasDbXref "GARD:7779"^^xsd:string, "ICD10CM:C01"^^xsd:string, "ICD10CM:C02.0"^^xsd:string, "ICD10CM:C02.1"^^xsd:string, "ICD10CM:C02.2"^^xsd:string, "ICD10CM:C02.4"^^xsd:string, "ICD10CM:C02.9"^^xsd:string, "ICD9CM:141"^^xsd:string, "ICD9CM:141.0"^^xsd:string, "ICD9CM:141.1"^^xsd:string, "ICD9CM:141.2"^^xsd:string, "ICD9CM:141.3"^^xsd:string, "ICD9CM:141.5"^^xsd:string, "ICD9CM:141.6"^^xsd:string, "MESH:D014062"^^xsd:string, "NCI:C3524"^^xsd:string, "NCI:C9345"^^xsd:string, "SNOMEDCT_US_2021_03_01:187644001"^^xsd:string, "SNOMEDCT_US_2021_03_01:363376007"^^xsd:string, "SNOMEDCT_US_2021_03_01:363377003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93773005"^^xsd:string, "SNOMEDCT_US_2021_03_01:94100005"^^xsd:string, "SNOMEDCT_US_2021_03_01:94101009"^^xsd:string, "SNOMEDCT_US_2021_03_01:94134006"^^xsd:string, "UMLS_CUI:C0153349"^^xsd:string, "UMLS_CUI:C0153350"^^xsd:string, "UMLS_CUI:C0153351"^^xsd:string, "UMLS_CUI:C0153356"^^xsd:string, "UMLS_CUI:C0474963"^^xsd:string, "UMLS_CUI:C0496755"^^xsd:string, "UMLS_CUI:C0684333"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of tongue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8649"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tongue cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10944, obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001723 ] ) ] . obo:DOID_865 obo:IAO_0000115 "A vascular disease that is characterized by inflammation of the blood vessels."^^xsd:string ; oboInOwl:hasDbXref "GARD:9565"^^xsd:string, "MESH:D014657"^^xsd:string, "NCI:C26912"^^xsd:string, "SNOMEDCT_US_2021_03_01:195375002"^^xsd:string, "UMLS_CUI:C0042384"^^xsd:string ; oboInOwl:hasExactSynonym "Angiitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_8650 oboInOwl:hasExactSynonym "Hodgkin's granuloma of intrapelvic lymph nodes"@en, "Hodgkin's granuloma of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8650"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8651 oboInOwl:hasAlternativeId "DOID:9102"^^xsd:string ; oboInOwl:hasExactSynonym "Hodgkin granuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8651"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Hodgkin's granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_8653 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes"@en, "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes"@en ; oboInOwl:id "DOID:8653"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8654 oboInOwl:hasDbXref "ICD10CM:C81.2"^^xsd:string, "ICD9CM:201.6"^^xsd:string, "MESH:D006689"^^xsd:string, "NCI:C3517"^^xsd:string, "SNOMEDCT_US_2021_03_01:118609008"^^xsd:string, "UMLS_CUI:C0152266"^^xsd:string ; oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8654"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Hodgkin's lymphoma, mixed cellularity"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_8656 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8656"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8659 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8658"^^xsd:string, "DOID:8693"^^xsd:string, "DOID:9243"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B01.9"^^xsd:string, "ICD9CM:052"^^xsd:string, "MESH:D002644"^^xsd:string, "NCI:C97132"^^xsd:string, "SNOMEDCT_US_2021_03_01:186508005"^^xsd:string, "UMLS_CUI:C0008049"^^xsd:string ; oboInOwl:hasExactSynonym "varicella"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8659"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chickenpox"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10335 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] ; skos:exactMatch "MESH:D002644"^^xsd:string . obo:DOID_866 obo:IAO_0000115 "A vascular disease that is located_in a vein."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I82"^^xsd:string, "ICD9CM:453"^^xsd:string, "SNOMEDCT_US_2021_03_01:195435006"^^xsd:string, "UMLS_CUI:C0155774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:866"^^xsd:string ; a owl:Class ; rdfs:label "vein disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001638 ] ) ] . obo:DOID_8660 oboInOwl:hasDbXref "ICD10CM:C13.0"^^xsd:string, "ICD9CM:148.0"^^xsd:string, "NCI:C9323"^^xsd:string, "SNOMEDCT_US_2021_03_01:93967000"^^xsd:string, "UMLS_CUI:C0496769"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Postcricoid tumor"@en, "malignant tumor of pharyngoesophageal junction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8660"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "postcricoid region cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8533 . obo:DOID_8661 obo:IAO_0000115 "An oral cavity carcinoma in situ that is located_in the lip."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D00.0"^^xsd:string, "ICD9CM:230.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:189210009"^^xsd:string, "UMLS_CUI:C0154058"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8661"^^xsd:string ; a owl:Class ; rdfs:label "lip carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_0050610, obo:DOID_9297 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001833 ] ) ] . obo:DOID_8662 obo:IAO_0000115 "A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9018"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of digestive organ"@en, "carcinoma in situ of digestive organ (disorder)"@en, "carcinoma in situ of digestive organ NOS"@en, "carcinoma in situ of digestive organ, unspecified (disorder)"@en, "carcinoma in situ of digestive organs"@en, "carcinoma in situ of digestive organs NOS (disorder)"@en, "carcinoma in situ of other and unspecified digestive organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8662"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma in situ of digestive organ"^^xsd:string ; owl:deprecated true . obo:DOID_8663 oboInOwl:hasDbXref "ICD10CM:C13.1"^^xsd:string, "ICD9CM:148.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:187708004"^^xsd:string, "UMLS_CUI:C0153401"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold"@en, "malignant tumor aryepiglottic fold - hypopharyngeal aspect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8663"^^xsd:string ; a owl:Class ; rdfs:label "aryepiglottic fold cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8533 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0014385 ] ) ] . obo:DOID_8664 oboInOwl:hasExactSynonym "nodular lymphoma of intrapelvic lymph nodes"@en, "nodular lymphoma of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8664"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8667 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of intra-abdominal lymph nodes"@en, "Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8667"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_867 obo:IAO_0000115 "A cholesteatoma located_in paranasal sinus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35868"^^xsd:string, "UMLS_CUI:C1334644"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:867"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "maxillary sinus cholesteatoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1352, obo:DOID_869 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_869 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001764 ] ) ] . obo:DOID_8670 obo:IAO_0000115 "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F50"^^xsd:string, "ICD9CM:307.50"^^xsd:string, "MESH:D001068"^^xsd:string, "NCI:C89332"^^xsd:string, "SNOMEDCT_US_2021_03_01:72366004"^^xsd:string, "UMLS_CUI:C0013473"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8670"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eating disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_8672 oboInOwl:hasAlternativeId "DOID:8730"^^xsd:string, "DOID:8744"^^xsd:string, "DOID:9213"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:057.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:186577001"^^xsd:string, "UMLS_CUI:C0029841"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8672"^^xsd:string ; a owl:Class ; rdfs:label "viral exanthem"^^xsd:string ; rdfs:subClassOf obo:DOID_0050486, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_8674 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8674"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8675 obo:IAO_0000115 "A sarcoma that has_material_basis in lymphatic tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8967"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8675"^^xsd:string ; a owl:Class ; rdfs:comment "lymphosarcoma has been obsoleted in NCI."^^xsd:string ; rdfs:label "obsolete ymphosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8676 oboInOwl:hasExactSynonym "malignant histiocytosis of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8676"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8677 oboInOwl:hasDbXref "ICD10CM:K55.3"^^xsd:string, "MESH:D020345"^^xsd:string, "UMLS_CUI:C0520459"^^xsd:string ; oboInOwl:hasExactSynonym "ENTEROCOLITIS NECROTIZING"@en, "Necrotizing enterocolitis in fetus OR newborn"@en, "Perinatal necrotising enterocolitis"@en, "Perinatal necrotizing enterocolitis"@en, "Pseudomembranous enterocolitis in newborn"@en, "necrotizing enterocolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8677"^^xsd:string ; a owl:Class ; rdfs:label "perinatal necrotizing enterocolitis"^^xsd:string ; rdfs:subClassOf obo:DOID_77 . obo:DOID_8680 oboInOwl:hasAlternativeId "DOID:8957"^^xsd:string, "DOID:9154"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K29.2"^^xsd:string, "ICD9CM:535.3"^^xsd:string, "NCI:C26977"^^xsd:string, "SNOMEDCT_US_2021_03_01:155714000"^^xsd:string, "UMLS_CUI:C0156076"^^xsd:string ; oboInOwl:hasExactSynonym "Alcoholic Gastritis"@en, "Alcoholic gastritis"@en, "Alcoholic gastritis, with hemorrhage"@en, "Alcoholic gastritis, without mention of hemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_8681 oboInOwl:hasDbXref "ICD9CM:357.3"^^xsd:string, "MESH:D020364"^^xsd:string, "NCI:C3981"^^xsd:string, "SNOMEDCT_US_2021_03_01:77659000"^^xsd:string, "UMLS_CUI:C0270932"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paraneoplastic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2537 . obo:DOID_8683 oboInOwl:hasAlternativeId "DOID:8682"^^xsd:string, "DOID:8848"^^xsd:string ; oboInOwl:hasDbXref "GARD:12763"^^xsd:string, "ICD10CM:C92.3"^^xsd:string, "MESH:D023981"^^xsd:string, "NCI:C35815"^^xsd:string, "SNOMEDCT_US_2021_03_01:188738007"^^xsd:string, "UMLS_CUI:C0152276"^^xsd:string ; oboInOwl:hasExactSynonym "Chloroma"@en, "Extramedullary Myeloid tumor"@en, "Granulocytic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8683"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2531 . obo:DOID_8687 obo:IAO_0000115 "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8686"^^xsd:string, "DOID:8699"^^xsd:string, "DOID:8817"^^xsd:string, "DOID:8831"^^xsd:string, "DOID:8880"^^xsd:string, "DOID:8989"^^xsd:string, "DOID:9000"^^xsd:string, "DOID:9185"^^xsd:string, "DOID:9221"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D04"^^xsd:string, "ICD10CM:D04.0"^^xsd:string, "ICD10CM:D04.2"^^xsd:string, "ICD10CM:D04.3"^^xsd:string, "ICD10CM:D04.4"^^xsd:string, "ICD10CM:D04.6"^^xsd:string, "ICD10CM:D04.7"^^xsd:string, "ICD9CM:232"^^xsd:string, "ICD9CM:232.0"^^xsd:string, "ICD9CM:232.2"^^xsd:string, "ICD9CM:232.3"^^xsd:string, "ICD9CM:232.4"^^xsd:string, "ICD9CM:232.5"^^xsd:string, "ICD9CM:232.6"^^xsd:string, "ICD9CM:232.7"^^xsd:string, "NCI:C3640"^^xsd:string, "SNOMEDCT_US_2021_03_01:189276007"^^xsd:string, "SNOMEDCT_US_2021_03_01:189291009"^^xsd:string, "SNOMEDCT_US_2021_03_01:189295000"^^xsd:string, "SNOMEDCT_US_2021_03_01:190179004"^^xsd:string, "SNOMEDCT_US_2021_03_01:255144005"^^xsd:string, "SNOMEDCT_US_2021_03_01:92735004"^^xsd:string, "SNOMEDCT_US_2021_03_01:92747005"^^xsd:string, "SNOMEDCT_US_2021_03_01:92749008"^^xsd:string, "UMLS_CUI:C0154073"^^xsd:string, "UMLS_CUI:C0154074"^^xsd:string, "UMLS_CUI:C0154077"^^xsd:string, "UMLS_CUI:C0154078"^^xsd:string, "UMLS_CUI:C0154079"^^xsd:string, "UMLS_CUI:C0154080"^^xsd:string, "UMLS_CUI:C0154081"^^xsd:string, "UMLS_CUI:C0347139"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous carcinoma in situ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma in situ of skin"@en ; oboInOwl:id "DOID:8687"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_8688 oboInOwl:hasDbXref "ICD10CM:C09.1"^^xsd:string, "ICD9CM:146.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:187676006"^^xsd:string, "UMLS_CUI:C0153385"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of tonsillar pillar"@en, "malignant neoplasm of tonsillar pillars, posterior"@en, "malignant tumor of tonsillar pillar"@en, "malignant tumour of tonsillar pillar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8688"^^xsd:string ; a owl:Class ; rdfs:label "tonsillar pillar cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8557 . obo:DOID_8689 obo:IAO_0000115 "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F50.0"^^xsd:string, "ICD9CM:307.1"^^xsd:string, "MESH:D000856"^^xsd:string, "NCI:C34387"^^xsd:string, "SNOMEDCT_US_2021_03_01:192445002"^^xsd:string, "UMLS_CUI:C0003125"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8689"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anorexia nervosa"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_869 obo:IAO_0000115 "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction."^^xsd:string ; oboInOwl:hasDbXref "GARD:10422"^^xsd:string, "ICD10CM:H71.9"^^xsd:string, "ICD9CM:385.30"^^xsd:string, "MESH:D002781"^^xsd:string, "NCI:C2944"^^xsd:string, "SNOMEDCT_US_2021_03_01:155244001"^^xsd:string, "UMLS_CUI:C0008373"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:869"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholesteatoma"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_8690 oboInOwl:hasExactSynonym "Mycosis fungoides involving lymph nodes of head, face and neck"@en, "Mycosis fungoides of lymph nodes of head, face and/or neck (disorder)"@en, "Mycosis fungoides of the lymph nodes of head, face and neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8690"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mycosis fungoides involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8691 oboInOwl:hasAlternativeId "DOID:8737"^^xsd:string ; oboInOwl:hasDbXref "GARD:3863"^^xsd:string, "ICD10CM:C84.0"^^xsd:string, "ICD9CM:202.1"^^xsd:string, "MESH:D009182"^^xsd:string, "NCI:C3246"^^xsd:string, "OMIM:254400"^^xsd:string, "SNOMEDCT_US_2021_03_01:118618005"^^xsd:string, "UMLS_CUI:C0026948"^^xsd:string ; oboInOwl:hasExactSynonym "Mycosis fungoides"@en, "mycosis fungoides lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mycosis fungoides"^^xsd:string ; rdfs:subClassOf obo:DOID_0060061 . obo:DOID_8692 obo:IAO_0000115 "A leukemia that is located_in myeloid tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8878"^^xsd:string, "DOID:8879"^^xsd:string, "DOID:8910"^^xsd:string, "DOID:9066"^^xsd:string, "DOID:9126"^^xsd:string ; oboInOwl:hasDbXref "GARD:8226"^^xsd:string, "ICD10CM:C92"^^xsd:string, "ICD9CM:205"^^xsd:string, "MESH:D007951"^^xsd:string, "NCI:C3172"^^xsd:string, "SNOMEDCT_US_2021_03_01:269631008"^^xsd:string, "UMLS_CUI:C0023470"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Lymphocytic Leukemia"@en, "leukaemia myelogenous"@en, "leukemia myelogenous"@en, "myeloid granulocytic leukaemia"@en, "myeloid granulocytic leukemia"@en, "myeloid leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8692"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_8696 oboInOwl:hasAlternativeId "DOID:8898"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:206.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:95276000"^^xsd:string, "UMLS_CUI:C0152275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8696"^^xsd:string ; a owl:Class ; rdfs:label "subacute monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8527 . obo:DOID_870 obo:IAO_0000115 "A nervous system disease that is located_in nerves or nerve cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G62.9"^^xsd:string, "NCI:C4731"^^xsd:string, "SNOMEDCT_US_2021_03_01:42658009"^^xsd:string, "UMLS_CUI:C0442874"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_574 . obo:DOID_8701 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck"@en ; oboInOwl:id "DOID:8701"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8702 oboInOwl:hasDbXref "ICD10CM:C06.0"^^xsd:string, "ICD9CM:145.0"^^xsd:string, "NCI:C9320"^^xsd:string, "SNOMEDCT_US_2021_03_01:93735006"^^xsd:string, "UMLS_CUI:C0153373"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of buccal mucosa"@en, "malignant neoplasm of cheek, inner aspect"@en, "malignant neoplasm of the Buccal Mucosa"@en, "malignant tumor of buccal mucosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8702"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cheek mucosa cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006956 ] ) ] . obo:DOID_8703 obo:IAO_0000115 "A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area."^^xsd:string ; oboInOwl:hasExactSynonym "Herpetic infection of penis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8703"^^xsd:string ; a owl:Class ; rdfs:label "obsolete penis herpetic infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_8704 obo:IAO_0000115 "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8982"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:054.1"^^xsd:string, "MESH:D006558"^^xsd:string, "NCI:C14364"^^xsd:string, "SNOMEDCT_US_2021_03_01:154333002"^^xsd:string, "UMLS_CUI:C0019342"^^xsd:string ; oboInOwl:hasExactSynonym "Genital herpes simplex"@en, "Herpes Genitalis"@en, "Virus-Genital Herpes"@en, "venereal herpes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8704"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "genital herpes"^^xsd:string ; rdfs:subClassOf obo:DOID_8566, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_8712 oboInOwl:hasAlternativeId "DOID:14750"^^xsd:string, "DOID:8711"^^xsd:string, "DOID:9137"^^xsd:string ; oboInOwl:hasDbXref "GARD:10420"^^xsd:string, "ICD10CM:Q85.00"^^xsd:string, "ICD9CM:237.7"^^xsd:string, "MESH:D017253"^^xsd:string, "NCI:C6727"^^xsd:string, "ORDO:93921"^^xsd:string, "SNOMEDCT_US_2021_03_01:154642000"^^xsd:string, "UMLS_CUI:C0162678"^^xsd:string ; oboInOwl:hasExactSynonym "Acoustic neurofibromatosis"@en, "Recklinghausen's neurofibromatosis"@en, "central Neurofibromatosis"@en, "peripheral Neurofibromatosis"@en, "von Reklinghausen disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8712"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "neurofibromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_8716 oboInOwl:hasAlternativeId "DOID:8727"^^xsd:string, "DOID:8728"^^xsd:string, "DOID:8764"^^xsd:string, "DOID:8789"^^xsd:string, "DOID:8829"^^xsd:string, "DOID:8890"^^xsd:string, "DOID:8933"^^xsd:string, "DOID:9044"^^xsd:string, "DOID:9172"^^xsd:string, "DOID:9209"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphosarcoma and reticulosarcoma (disorder)"@en, "Other named variants of lymphosarcoma and reticulosarcoma"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites"@en, "Other named variants of lymphosarcoma and reticulosarcoma involving spleen"@en, "Other named variants of lymphosarcoma and reticulosarcoma, unspecified site"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8716"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma and reticulosarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_8717 obo:IAO_0000115 "Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8808"^^xsd:string, "DOID:9002"^^xsd:string, "DOID:9029"^^xsd:string, "DOID:9129"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L89"^^xsd:string, "ICD9CM:707.0"^^xsd:string, "MESH:D003668"^^xsd:string, "NCI:C50706"^^xsd:string, "SNOMEDCT_US_2021_03_01:28103007"^^xsd:string, "UMLS_CUI:C0011127"^^xsd:string ; oboInOwl:hasExactSynonym "Decubitus (pressure) ulcer"@en, "Decubitus ulcer any site"@en, "pressure sores"@en, "pressure ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "bedsore"@en ; oboInOwl:id "DOID:8717"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "decubitus ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8549 . obo:DOID_8718 obo:IAO_0000115 "A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8965"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of respiratory tract (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8718"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma in situ of respiratory system"^^xsd:string ; owl:deprecated true . obo:DOID_8719 obo:IAO_0000115 "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8793"^^xsd:string, "DOID:8821"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D09.9"^^xsd:string, "ICD9CM:230-234.99"^^xsd:string, "MESH:D002278"^^xsd:string, "NCI:C2917"^^xsd:string, "SNOMEDCT_US_2021_03_01:109355002"^^xsd:string, "UMLS_CUI:C0007099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8719"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "in situ carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060071 . obo:DOID_872 oboInOwl:hasAlternativeId "DOID:14"^^xsd:string, "DOID:44"^^xsd:string ; oboInOwl:hasExactSynonym "Connective and soft tissue disease"@en, "Connective and soft tissue disorder"@en, "disease of deep fascial system"@en, "tissue disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:872"^^xsd:string ; a owl:Class ; rdfs:label "obsolete soft tissue disease"^^xsd:string ; owl:deprecated true . obo:DOID_8725 obo:IAO_0000115 "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13915"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F01"^^xsd:string, "ICD9CM:290.4"^^xsd:string, "MESH:D015140"^^xsd:string, "MESH:D015161"^^xsd:string, "NCI:C34522"^^xsd:string, "NCI:C34525"^^xsd:string, "SNOMEDCT_US_2021_03_01:192165000"^^xsd:string, "SNOMEDCT_US_2021_03_01:56267009"^^xsd:string, "UMLS_CUI:C0011263"^^xsd:string, "UMLS_CUI:C0011269"^^xsd:string ; oboInOwl:hasExactSynonym "Multi Infarct Dementia"@en, "multifocal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8725"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vascular dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_1307 . obo:DOID_8729 obo:IAO_0000115 "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.04"^^xsd:string, "ICD9CM:051.9"^^xsd:string, "MESH:D011213"^^xsd:string, "SNOMEDCT_US_2021_03_01:266193008"^^xsd:string, "UMLS_CUI:C0026143"^^xsd:string ; oboInOwl:hasExactSynonym "Milkers' node"@en, "Paravaccinia"@en, "milker nodule"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Pseudocowpox"@en ; oboInOwl:id "DOID:8729"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "milker's nodule"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_129726 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_873 obo:IAO_0000115 "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:482.81"^^xsd:string, "UMLS_CUI:C0375327"^^xsd:string ; oboInOwl:hasExactSynonym "pneumonia due to anaerobes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:873"^^xsd:string ; a owl:Class ; rdfs:label "anaerobic pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050152, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_8731 obo:IAO_0000115 "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C75.4"^^xsd:string, "ICD9CM:194.5"^^xsd:string, "NCI:C3574"^^xsd:string, "SNOMEDCT_US_2021_03_01:93740003"^^xsd:string, "UMLS_CUI:C0153656"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Carotid body Paraganglioma"@en, "malignant carotid body tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of carotid body"@en ; oboInOwl:id "DOID:8731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carotid body cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_175 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001629 ] ) ] . obo:DOID_8736 obo:IAO_0000115 "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk."^^xsd:string ; oboInOwl:hasDbXref "GARD:7444"^^xsd:string, "ICD10CM:B03"^^xsd:string, "ICD9CM:050"^^xsd:string, "MESH:D012899"^^xsd:string, "NCI:C35027"^^xsd:string, "SNOMEDCT_US_2021_03_01:266193008"^^xsd:string, "UMLS_CUI:C0037354"^^xsd:string ; oboInOwl:hasExactSynonym "Ordinary smallpox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8736"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "smallpox"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10255 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_8738 oboInOwl:hasDbXref "ICD10CM:N48.0"^^xsd:string, "ICD9CM:607.0"^^xsd:string, "MESH:D052798"^^xsd:string, "NCI:C3151"^^xsd:string, "SNOMEDCT_US_2021_03_01:266639006"^^xsd:string, "UMLS_CUI:C0022782"^^xsd:string ; oboInOwl:hasExactSynonym "Kraurosis of penis"@en, "Penile Leukoplakia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8738"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukoplakia of penis"^^xsd:string ; rdfs:subClassOf obo:DOID_1529 . obo:DOID_874 obo:IAO_0000115 "A pneumonia involving inflammation of the lungs caused by bacteria."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13815"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J15.9"^^xsd:string, "ICD9CM:482.9"^^xsd:string, "MESH:D018410"^^xsd:string, "NCI:C26704"^^xsd:string, "SNOMEDCT_US_2021_03_01:53084003"^^xsd:string, "UMLS_CUI:C0004626"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumonia due to other gram-negative bacteria"@en, "gram-negative pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:874"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_8741 obo:IAO_0000115 "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8740"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L21"^^xsd:string, "ICD9CM:690.1"^^xsd:string, "MESH:D012628"^^xsd:string, "NCI:C111888"^^xsd:string, "SNOMEDCT_US_2021_03_01:156328004"^^xsd:string, "UMLS_CUI:C0036508"^^xsd:string ; oboInOwl:hasExactSynonym "SKIN SEBORRHEIC"@en, "Seborrhoeic dermatitis"@en, "Seborrhoeic eczema"@en, "seborrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8741"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "seborrheic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_8742 oboInOwl:hasExactSynonym "Hodgkin's granuloma involving lymph nodes of head, face and neck"@en, "Hodgkin's granuloma of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8742"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8743 oboInOwl:hasDbXref "ICD10CM:B08.3"^^xsd:string, "ICD9CM:057.0"^^xsd:string, "MESH:D016731"^^xsd:string, "NCI:C84695"^^xsd:string, "SNOMEDCT_US_2021_03_01:34730008"^^xsd:string, "UMLS_CUI:C0085273"^^xsd:string ; oboInOwl:hasExactSynonym "Erythema infectiosum"@en, "Fifth disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "erythema infectiosum"^^xsd:string ; rdfs:subClassOf obo:DOID_8672, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10798 ] . obo:DOID_8745 oboInOwl:hasExactSynonym "chronic universal ulcerative colitis"@en, "universal ulcerative (chronic) colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8745"^^xsd:string ; a owl:Class ; rdfs:label "obsolete universal ulcerative colitis"^^xsd:string ; owl:deprecated true . obo:DOID_8747 oboInOwl:hasAlternativeId "DOID:8746"^^xsd:string, "DOID:8993"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:95278004"^^xsd:string, "UMLS_CUI:C0153889"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8747"^^xsd:string ; a owl:Class ; rdfs:label "subacute myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8692 . obo:DOID_8748 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8748"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute dermatitis due to solar radiation"^^xsd:string ; owl:deprecated true . obo:DOID_8749 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8749"^^xsd:string ; a owl:Class ; rdfs:label "obsolete actinic reticuloid and actinic granuloma"^^xsd:string ; owl:deprecated true . obo:DOID_8751 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8751"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8752 obo:IAO_0000115 "A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14009"^^xsd:string ; oboInOwl:hasExactSynonym "tuberculous bronchopneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8752"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_8754 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb"@en ; oboInOwl:id "DOID:8754"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8757 oboInOwl:hasAlternativeId "DOID:9134"^^xsd:string, "DOID:9242"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K29.6"^^xsd:string, "ICD9CM:535.2"^^xsd:string, "MESH:D005758"^^xsd:string, "NCI:C67277"^^xsd:string, "OMIM:137280"^^xsd:string, "SNOMEDCT_US_2021_03_01:60002000"^^xsd:string, "UMLS_CUI:C0017155"^^xsd:string ; oboInOwl:hasExactSynonym "Giant rugal hypertrophy of stomach"@en, "MENETRIER DISEASE"@en, "familial giant hypertrophic gastritis"@en, "hypertrophic gastritis"@en, "hypertrophic gastropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8757"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gastric mucosal hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_8758 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8758"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_876 oboInOwl:hasDbXref "GARD:4614"^^xsd:string, "ICD10CM:M60.0"^^xsd:string, "ICD9CM:040.81"^^xsd:string, "MESH:D052880"^^xsd:string, "NCI:C128382"^^xsd:string, "SNOMEDCT_US_2021_03_01:186430009"^^xsd:string, "UMLS_CUI:C0041188"^^xsd:string ; oboInOwl:hasExactSynonym "Tropical pyomyositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:876"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pyomyositis"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_8761 obo:IAO_0000115 "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9009"^^xsd:string ; oboInOwl:hasDbXref "GARD:524"^^xsd:string, "ICD10CM:C94.2"^^xsd:string, "ICD9CM:207.2"^^xsd:string, "MESH:D007947"^^xsd:string, "NCI:C3170"^^xsd:string, "SNOMEDCT_US_2021_03_01:52220008"^^xsd:string, "UMLS_CUI:C0023462"^^xsd:string ; oboInOwl:hasExactSynonym "Megakaryocytic myelosis"@en, "Thrombocytic leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8761"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute megakaryocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_8762 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes simplex otitis externa (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus otitis externa"^^xsd:string ; owl:deprecated true . obo:DOID_8765 obo:IAO_0000115 "A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8971"^^xsd:string ; oboInOwl:hasExactSynonym "Herpes simplex septicemia (disorder)"@en, "visceral herpes simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8765"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_8766 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8766"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8767 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8767"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8768 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8768"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8769 oboInOwl:hasExactSynonym "malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder)"@en, "malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8769"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8770 oboInOwl:hasExactSynonym "Reticulosarcoma of intra-abdominal lymph nodes"@en, "Reticulosarcoma of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8770"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8771 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.02"^^xsd:string, "ICD9CM:051.2"^^xsd:string, "MESH:D004474"^^xsd:string, "SNOMEDCT_US_2021_03_01:74050005"^^xsd:string, "UMLS_CUI:C0013570"^^xsd:string ; oboInOwl:hasExactSynonym "Ecthyma contagiosum"@en, "Ecthyma, Contagious"@en, "Orf"@en, "scabby mouth"@en, "sheep pox"@en, "thistle disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8771"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "contagious pustular dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10258 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_8773 oboInOwl:hasExactSynonym "nodular lymphoma involving lymph nodes of head, face and neck"@en, "nodular lymphoma of lymph nodes of head, face and neck (disorder)"@en, "nodular lymphoma of lymph nodes of head, face, and neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8773"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8775 oboInOwl:hasAlternativeId "DOID:3129"^^xsd:string ; oboInOwl:hasExactSynonym "Proctosigmoiditis (disorder)"@en, "chronic ulcerative rectosigmoiditis (disorder)"@en, "proctosigmoiditis"@en, "ulcerative (chronic) proctosigmoiditis"@en, "ulcerative proctosigmoiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8775"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ulcerative proctosigmoiditis"^^xsd:string ; owl:deprecated true . obo:DOID_8778 obo:IAO_0000115 "An intestinal disease that involves inflammation located_in intestine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8784"^^xsd:string, "DOID:8855"^^xsd:string, "DOID:8942"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000384"^^xsd:string, "GARD:10232"^^xsd:string, "ICD10CM:K50.1"^^xsd:string, "ICD9CM:555.1"^^xsd:string, "MESH:D003424"^^xsd:string, "NCI:C37262"^^xsd:string, "SNOMEDCT_US_2021_03_01:7620006"^^xsd:string, "UMLS_CUI:C0156147"^^xsd:string ; oboInOwl:hasExactSynonym "Crohn disease"@en, "Crohn's disease of colon"@en, "Crohn's disease of large bowel"@en, "Granulomatous Colitis"@en, "Pediatric Crohn's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8778"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C536215 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "Crohn's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589 . obo:DOID_8781 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11765"^^xsd:string, "DOID:1463"^^xsd:string, "DOID:1464"^^xsd:string, "DOID:8780"^^xsd:string, "DOID:8816"^^xsd:string, "DOID:8909"^^xsd:string, "DOID:9106"^^xsd:string, "DOID:9116"^^xsd:string, "DOID:9162"^^xsd:string, "DOID:9179"^^xsd:string ; oboInOwl:hasDbXref "GARD:4742"^^xsd:string, "ICD10CM:B06.9"^^xsd:string, "ICD9CM:056"^^xsd:string, "MESH:D012409"^^xsd:string, "NCI:C85051"^^xsd:string, "SNOMEDCT_US_2021_03_01:266192003"^^xsd:string, "UMLS_CUI:C0035920"^^xsd:string ; oboInOwl:hasExactSynonym "german measles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8781"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rubella"^^xsd:string ; rdfs:subClassOf obo:DOID_2365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_8785 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8785"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postherpetic polyneuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_8787 oboInOwl:hasDbXref "ICD10CM:H30.1"^^xsd:string, "ICD9CM:363.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:78769001"^^xsd:string, "UMLS_CUI:C0154879"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8787"^^xsd:string ; a owl:Class ; rdfs:label "disseminated chorioretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8886 . obo:DOID_8791 obo:IAO_0000115 "An in situ carcinoma that is located_in the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D05"^^xsd:string, "ICD9CM:233.0"^^xsd:string, "MESH:D000071960"^^xsd:string, "SNOMEDCT_US_2021_03_01:154636004"^^xsd:string, "UMLS_CUI:C0154084"^^xsd:string ; oboInOwl:hasExactSynonym "Non-Infiltrating carcinoma of breast"@en, "carcinoma in situ of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8791"^^xsd:string ; a owl:Class ; rdfs:label "breast carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_3463, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] ; skos:exactMatch "MESH:D000071960"^^xsd:string . obo:DOID_8792 obo:IAO_0000115 "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D09.2"^^xsd:string, "ICD9CM:234.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:92590009"^^xsd:string, "UMLS_CUI:C0154094"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8792"^^xsd:string ; a owl:Class ; rdfs:label "eye carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_5614, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] . obo:DOID_8794 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder)"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes"@en ; oboInOwl:id "DOID:8794"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8795 oboInOwl:hasExactSynonym "Hodgkin's granuloma of spleen"@en, "Hodgkin's granuloma of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8795"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8798 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of spleen"@en, "Hodgkin's disease, mixed cellularity of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving spleen"@en ; oboInOwl:id "DOID:8798"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8800 obo:IAO_0000115 "An in situ carcinoma that is located_in the lung."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D02.2"^^xsd:string, "ICD9CM:231.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:189262006"^^xsd:string, "UMLS_CUI:C0154071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8800"^^xsd:string ; a owl:Class ; rdfs:label "lung carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719 . obo:DOID_8802 obo:IAO_0000115 "An in situ carcinoma that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D02.1"^^xsd:string, "ICD9CM:231.1"^^xsd:string, "NCI:C3639"^^xsd:string, "SNOMEDCT_US_2021_03_01:92772005"^^xsd:string, "UMLS_CUI:C0154070"^^xsd:string ; oboInOwl:hasExactSynonym "Tracheal carcinoma In situ"@en, "carcinoma in situ of trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8802"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_3225, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] ) ] . obo:DOID_8803 oboInOwl:hasExactSynonym "Repetitive intrusions of sleep (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8803"^^xsd:string ; a owl:Class ; rdfs:label "obsolete repetitive intrusions of sleep"^^xsd:string ; owl:deprecated true . obo:DOID_8805 oboInOwl:hasDbXref "ICD10CM:I20.0"^^xsd:string, "ICD9CM:411.1"^^xsd:string, "MESH:D000789"^^xsd:string, "NCI:C66911"^^xsd:string, "SNOMEDCT_US_2021_03_01:155308009"^^xsd:string, "UMLS_CUI:C0002965"^^xsd:string ; oboInOwl:hasExactSynonym "Angina at rest"@en, "Anginal chest pain at rest"@en, "Impending infarction"@en, "Preinfarction angina"@en, "Unstable angina"@en, "Worsening angina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8805"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate coronary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_8806 oboInOwl:hasExactSynonym "malignant histiocytosis of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8806"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8807 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8807"^^xsd:string ; a owl:Class ; rdfs:label "obsolete allergic gastroenteritis and colitis"^^xsd:string ; owl:deprecated true . obo:DOID_8811 oboInOwl:hasExactSynonym "malignant histiocytosis of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8811"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8812 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear."^^xsd:string ; oboInOwl:hasExactSynonym "postmeasles otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8812"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus otitis media"^^xsd:string ; owl:deprecated true . obo:DOID_882 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.8"^^xsd:string, "ICD9CM:121.6"^^xsd:string, "NCI:C128389"^^xsd:string, "SNOMEDCT_US_2021_03_01:22905009"^^xsd:string, "UMLS_CUI:C0152071"^^xsd:string ; oboInOwl:hasExactSynonym "heterophyes infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:882"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heterophyiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_114, obo:DOID_883, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_8820 oboInOwl:hasExactSynonym "chronic ulcerative ileocolitis"@en, "chronic ulcerative ileocolitis (disorder)"@en, "ulcerative (chronic) ileocolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8820"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ulcerative ileocolitis"^^xsd:string ; owl:deprecated true . obo:DOID_8825 oboInOwl:hasExactSynonym "Hodgkin's Paragranuloma Involving Spleen"@en, "Hodgkin's paragranuloma of spleen"@en, "Hodgkin's paragranuloma of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8825"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8826 obo:IAO_0000115 "An intestine carcinoma in situ that is located_in the colon."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D01.0"^^xsd:string, "ICD9CM:230.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:92568009"^^xsd:string, "UMLS_CUI:C0154061"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of colon"@en, "stage 0 Colonic carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8826"^^xsd:string ; a owl:Class ; rdfs:label "colon carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, obo:DOID_9024 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_8828 oboInOwl:hasExactSynonym "SIRS"@en, "systemic inflammatory response syndrome (SIRS) NOS"@en, "systemic inflammatory response syndrome, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8828"^^xsd:string ; a owl:Class ; rdfs:label "obsolete systemic inflammatory response syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_883 obo:IAO_0000115 "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10693"^^xsd:string, "DOID:3563"^^xsd:string, "DOID:458"^^xsd:string, "DOID:932"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B83.9"^^xsd:string, "ICD9CM:120-129.99"^^xsd:string, "MESH:D006373"^^xsd:string, "NCI:C84751"^^xsd:string, "SNOMEDCT_US_2021_03_01:187518006"^^xsd:string, "UMLS_CUI:C0018889"^^xsd:string ; oboInOwl:hasExactSynonym "helminth infection"@en, "helminthiasis"@en, "helminthosis"@en, "worm infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:883"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parasitic helminthiasis infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1398 . obo:DOID_8832 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites"@en, "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites"@en ; oboInOwl:id "DOID:8832"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8836 oboInOwl:hasExactSynonym "Burkitt's lymphoma of lymph nodes of head, face and neck (disorder)"@en, "Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8837 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder)"@en, "Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8838 oboInOwl:hasDbXref "ICD10CM:C81.1"^^xsd:string, "ICD9CM:201.5"^^xsd:string, "NCI:C3518"^^xsd:string, "SNOMEDCT_US_2021_03_01:52248008"^^xsd:string, "UMLS_CUI:C0152268"^^xsd:string ; oboInOwl:hasExactSynonym "Classical Hodgkin lymphoma, nodular sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Hodgkin's lymphoma, nodular sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_8567 . obo:DOID_8839 obo:IAO_0000115 "An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8839"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster keratoconjunctivitis"^^xsd:string ; owl:deprecated true . obo:DOID_884 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.8"^^xsd:string, "ICD9CM:121.5"^^xsd:string, "MESH:D014201"^^xsd:string, "NCI:C128390"^^xsd:string, "SNOMEDCT_US_2021_03_01:37832003"^^xsd:string, "UMLS_CUI:C0025530"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Metagonimus yokogawai"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:884"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "metagonimiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_8844 oboInOwl:hasExactSynonym "Erythema nodosum with hypersensitivity reaction in tuberculosis"@en, "Erythema nodosum with tuberculosis NOS (disorder)"@en, "Erythema nodosum, tuberculous"@en, "Tuberculous erythema nodosum"@en, "Tuberculous erythema nodosum (disorder)"@en, "erythema nodosum with hypersensitivity reaction in tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8844"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous erythema nodosum"^^xsd:string ; owl:deprecated true . obo:DOID_8847 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites"@en, "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder)"@en, "nodular Sclerosis Hodgkin's Lymphoma stage III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites"@en ; oboInOwl:id "DOID:8847"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8849 obo:IAO_0000115 "A salivary gland cancer that is located_in the sublingual gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C08.1"^^xsd:string, "ICD9CM:142.2"^^xsd:string, "NCI:C3527"^^xsd:string, "SNOMEDCT_US_2021_03_01:94076001"^^xsd:string, "UMLS_CUI:C0153361"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of sublingual gland"@en, "malignant tumor of the Sublingual gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sublingual gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001832 ] ) ] . obo:DOID_885 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa."^^xsd:string ; oboInOwl:hasDbXref "GARD:6428"^^xsd:string, "ICD10CM:B66.3"^^xsd:string, "ICD9CM:121.3"^^xsd:string, "MESH:D005211"^^xsd:string, "NCI:C128387"^^xsd:string, "SNOMEDCT_US_2021_03_01:187125007"^^xsd:string, "UMLS_CUI:C0015652"^^xsd:string ; oboInOwl:hasExactSynonym "Fasciola hepatica infection"@en, "Infection by Fasciola"@en, "Liver flukes"@en, "Sheep liver fluke infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:885"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fascioliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4138, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6191 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] . obo:DOID_8850 obo:IAO_0000115 "An oral cavity cancer that is located_in the salivary gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8873"^^xsd:string, "DOID:9148"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C08"^^xsd:string, "ICD9CM:142.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:187648003"^^xsd:string, "UMLS_CUI:C0153362"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of salivary gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8850"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "salivary gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10854, obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] ) ] . obo:DOID_8852 oboInOwl:hasExactSynonym "Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8852"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8854 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8854"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8857 obo:IAO_0000115 "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L93"^^xsd:string, "ICD9CM:695.4"^^xsd:string, "NCI:C27153"^^xsd:string, "SNOMEDCT_US_2021_03_01:200936003"^^xsd:string, "UMLS_CUI:C0409974"^^xsd:string ; oboInOwl:hasExactSynonym "lupus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8857"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] . obo:DOID_8858 oboInOwl:hasDbXref "ICD10CM:C09"^^xsd:string, "ICD9CM:146.0"^^xsd:string, "MESH:D014067"^^xsd:string, "NCI:C7404"^^xsd:string, "SNOMEDCT_US_2021_03_01:93937006"^^xsd:string, "UMLS_CUI:C0751560"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Tonsillar tumor"@en, "malignant neoplasm of faucial tonsil"@en, "malignant neoplasm of palatine tonsil"@en, "malignant neoplasm of tonsil, faucial"@en, "malignant tumor of tonsil"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8858"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tonsil cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_8557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002372 ] ) ] . obo:DOID_8860 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8860"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8861 oboInOwl:hasDbXref "ICD10CM:Q24.3"^^xsd:string, "ICD9CM:746.83"^^xsd:string, "MESH:D011662"^^xsd:string, "NCI:C34961"^^xsd:string, "SNOMEDCT_US_2021_03_01:204370002"^^xsd:string, "UMLS_CUI:C0034084"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Infundibular Stenosis"@en, "Infundibular pulmonic stenosis"@en, "Infundibular pulmonic stenosis, congenital"@en, "Subvalvular pulmonic stenosis"@en, "pulmonary infundibular stenosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary subvalvular stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6420 . obo:DOID_8864 obo:IAO_0000115 "A monocytic leukemia where the majority of monocytic cells are promonocytes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9208"^^xsd:string ; oboInOwl:hasDbXref "GARD:525"^^xsd:string, "ICD9CM:206.0"^^xsd:string, "MESH:D007948"^^xsd:string, "OMIM:151380"^^xsd:string, "SNOMEDCT_US_2021_03_01:91859000"^^xsd:string, "UMLS_CUI:C0023465"^^xsd:string ; oboInOwl:hasExactSynonym "acute Monoblastic Leukemia and acute Monocytic Leukemia"@en, "acute monocytic leukaemia"@en, "acute monocytic leukaemia without mention of remission"@en, "acute monocytic leukemia without mention of remission"@en, "acute monocytic leukemia, FAB M5"@en, "acute monocytic leukemia, morphology"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8864"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acute monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8527 . obo:DOID_8866 oboInOwl:hasDbXref "ICD10CM:L57.0"^^xsd:string, "ICD9CM:702.0"^^xsd:string, "MESH:D055623"^^xsd:string, "NCI:C3148"^^xsd:string, "SNOMEDCT_US_2021_03_01:267858008"^^xsd:string, "UMLS_CUI:C0022602"^^xsd:string ; oboInOwl:hasExactSynonym "SK - Solar keratosis"@en, "Senile hyperkeratosis"@en, "Solar keratosis"@en, "actinic (Solar) Keratosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8866"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "actinic keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060071 . obo:DOID_8867 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.1"^^xsd:string, "ICD9CM:078.0"^^xsd:string, "MESH:D008976"^^xsd:string, "NCI:C155872"^^xsd:string, "SNOMEDCT_US_2021_03_01:154360009"^^xsd:string, "UMLS_CUI:C0026393"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8867"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "molluscum contagiosum"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10279 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ] . obo:DOID_8868 oboInOwl:hasExactSynonym "Mycosis fungoides of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8868"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mycosis fungoides involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8869 obo:IAO_0000115 "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004256"^^xsd:string, "GARD:6267"^^xsd:string, "ICD10CM:G36.0"^^xsd:string, "ICD9CM:341.0"^^xsd:string, "MESH:D009471"^^xsd:string, "NCI:C84934"^^xsd:string, "SNOMEDCT_US_2021_03_01:25044007"^^xsd:string, "UMLS_CUI:C0027873"^^xsd:string ; oboInOwl:hasExactSynonym "Devic's disease"@en, "Devic's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8869"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neuromyelitis optica"^^xsd:string ; rdfs:subClassOf obo:DOID_0060004, obo:DOID_0060033, obo:DOID_1891, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000941 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_887 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream."^^xsd:string ; oboInOwl:hasExactSynonym "Fluke infection"@en, "Trematode infestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:887"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trematoda infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_8870 oboInOwl:hasExactSynonym "nodular lymphoma of intrathoracic lymph nodes"@en, "nodular lymphoma of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8870"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8871 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites"@en ; oboInOwl:id "DOID:8871"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites"^^xsd:string ; owl:deprecated true . obo:DOID_8872 obo:IAO_0000115 "An in situ carcinoma that is located_in the penis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D07.4"^^xsd:string, "ICD9CM:233.5"^^xsd:string, "NCI:C27790"^^xsd:string, "SNOMEDCT_US_2021_03_01:92679008"^^xsd:string, "UMLS_CUI:C0154089"^^xsd:string ; oboInOwl:hasExactSynonym "Bowen's disease of penis"@en, "Penile intraepithelial neoplasia grade III"@en, "Queyrat's erythroplasia"@en, "carcinoma in situ of penis"@en, "grade III squamous Intraepithelial Lesion of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8872"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_1529, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_8875 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8875"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8876 obo:IAO_0000115 "A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Herpetic Vulvovaginitis"@en, "Herpetic vulvovaginitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8876"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpetic vulvovaginitis"^^xsd:string ; owl:deprecated true . obo:DOID_888 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.5"^^xsd:string, "ICD9CM:121.4"^^xsd:string, "MESH:D014201"^^xsd:string, "NCI:C128388"^^xsd:string, "SNOMEDCT_US_2021_03_01:54266002"^^xsd:string, "UMLS_CUI:C0015656"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Fasciolopsis buski"@en, "Infectious Disease by Fasciolopsis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:888"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fasciolopsiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000526 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_8881 oboInOwl:hasDbXref "ICD10CM:L71"^^xsd:string, "ICD9CM:695.3"^^xsd:string, "MESH:D012393"^^xsd:string, "NCI:C97136"^^xsd:string, "SNOMEDCT_US_2021_03_01:1612004"^^xsd:string, "UMLS_CUI:C0035854"^^xsd:string ; oboInOwl:hasExactSynonym "Acne roscea"@en, "Acne, erythematosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8881"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rosacea"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_8883 oboInOwl:hasDbXref "ICD10CM:C00.1"^^xsd:string, "ICD9CM:140.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:94136008"^^xsd:string, "UMLS_CUI:C0432520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8883"^^xsd:string ; a owl:Class ; rdfs:label "lower lip cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8564 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001835 ] ) ] . obo:DOID_8886 oboInOwl:hasDbXref "GARD:6060"^^xsd:string, "ICD10CM:H30.9"^^xsd:string, "ICD9CM:363.20"^^xsd:string, "MESH:D002825"^^xsd:string, "NCI:C110923"^^xsd:string, "SNOMEDCT_US_2021_03_01:270531006"^^xsd:string, "UMLS_CUI:C0008513"^^xsd:string ; oboInOwl:hasExactSynonym "retinochoroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8886"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chorioretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_889 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:889"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inborn metabolic brain disease"^^xsd:string ; owl:deprecated true . obo:DOID_8892 obo:IAO_0000115 "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L42"^^xsd:string, "ICD9CM:696.3"^^xsd:string, "MESH:D017515"^^xsd:string, "NCI:C26855"^^xsd:string, "SNOMEDCT_US_2021_03_01:156373006"^^xsd:string, "UMLS_CUI:C0032026"^^xsd:string ; oboInOwl:hasExactSynonym "Pityriasis circinata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8892"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pityriasis rosea"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_8893 obo:IAO_0000115 "A skin disease that is characterized by patches of thick red skin and silvery scales."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000676"^^xsd:string, "GARD:10262"^^xsd:string, "ICD10CM:L40"^^xsd:string, "MESH:D011565"^^xsd:string, "NCI:C3346"^^xsd:string, "OMIM:PS177900"^^xsd:string, "SNOMEDCT_US_2021_03_01:156369008"^^xsd:string, "UMLS_CUI:C0033860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8893"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860."""^^xsd:string ; rdfs:label "psoriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_890 oboInOwl:hasDbXref "MESH:D017237"^^xsd:string, "SNOMEDCT_US_2021_03_01:447292006"^^xsd:string, "UMLS_CUI:C0162666"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:890"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "mitochondrial encephalomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_699 . obo:DOID_8903 oboInOwl:hasExactSynonym "Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8903"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8904 oboInOwl:hasExactSynonym "nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8904"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8906 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster otitis externa"@en, "Otitis externa due to Herpes zoster (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8906"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster otitis externa"^^xsd:string ; owl:deprecated true . obo:DOID_8907 oboInOwl:hasExactSynonym "Nonspecific ulcerative proctitis (disorder)"@en, "chronic ulcerative proctitis"@en, "chronic ulcerative proctitis (disorder)"@en, "ulcerative (chronic) proctitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8907"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ulcerative proctitis"^^xsd:string ; owl:deprecated true . obo:DOID_891 obo:IAO_0000115 "A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death."^^xsd:string ; oboInOwl:hasDbXref "GARD:7140"^^xsd:string, "MESH:D020191"^^xsd:string, "NCI:C7636"^^xsd:string, "OMIM:310370"^^xsd:string, "OMIM:PS254800"^^xsd:string, "SNOMEDCT_US_2021_03_01:192844008"^^xsd:string, "UMLS_CUI:C0751778"^^xsd:string ; oboInOwl:hasExactSynonym "PME"@en, "progressive Myoclonus epilepsy"@en, "progressive myoclonic epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:891"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "progressive myoclonus epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050706 ; skos:exactMatch "NCI:C7636"^^xsd:string . obo:DOID_8912 obo:IAO_0000115 "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.1"^^xsd:string, "ICD9CM:111.1"^^xsd:string, "MESH:C000656904"^^xsd:string, "SNOMEDCT_US_2021_03_01:1022006"^^xsd:string, "UMLS_CUI:C0152067"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Cladosporium werneckii"@en, "Keratomycosis nigricans"@en, "Tinea palmaris nigra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "microsporosis nigra"@en ; oboInOwl:id "DOID:8912"^^xsd:string ; a owl:Class ; rdfs:label "tinea nigra"^^xsd:string ; rdfs:subClassOf obo:DOID_0050133 . obo:DOID_8913 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B35"^^xsd:string, "ICD9CM:110"^^xsd:string, "NCI:C26745"^^xsd:string, "SNOMEDCT_US_2021_03_01:154394006"^^xsd:string, "UMLS_CUI:C0011636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dermatophytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050134, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ] . obo:DOID_8914 oboInOwl:hasExactSynonym "Burkitt's lymphoma of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8914"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8915 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8915"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_8916 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8916"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mycosis fungoides involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8918 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8918"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8919 oboInOwl:hasExactSynonym "Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder)"@en, "Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8920 obo:IAO_0000115 "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N89.4"^^xsd:string, "ICD9CM:623.1"^^xsd:string, "NCI:C3663"^^xsd:string, "SNOMEDCT_US_2021_03_01:111420009"^^xsd:string, "UMLS_CUI:C0156385"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal Leukoplakia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8920"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukoplakia of vagina"^^xsd:string ; rdfs:subClassOf obo:DOID_121 . obo:DOID_8921 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8921"^^xsd:string ; a owl:Class ; rdfs:label "obsolete noninflammatory vaginal disorder"^^xsd:string ; owl:deprecated true . obo:DOID_8923 obo:IAO_0000115 "A skin cancer that has_material_basis_in melanocytes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050609"^^xsd:string, "DOID:10043"^^xsd:string, "DOID:10046"^^xsd:string, "DOID:10051"^^xsd:string, "DOID:10052"^^xsd:string, "DOID:10055"^^xsd:string, "DOID:8922"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C43.9"^^xsd:string, "ICD9CM:172.9"^^xsd:string, "MESH:C562393"^^xsd:string, "NCI:C3510"^^xsd:string, "OMIM:608035"^^xsd:string, "OMIM:612263"^^xsd:string, "SNOMEDCT_US_2021_03_01:269577007"^^xsd:string, "UMLS_CUI:C0151779"^^xsd:string ; oboInOwl:hasExactSynonym "cutaneous melanoma"@en, "malignant ear melanoma"@en, "malignant lip melanoma"@en, "malignant lower limb melanoma"@en, "malignant melanoma of ear and/or external auricular canal"@en, "malignant melanoma of skin of lower limb"@en, "malignant melanoma of skin of trunk except scrotum"@en, "malignant melanoma of skin of upper limb"@en, "malignant neck melanoma"@en, "malignant scalp melanoma"@en, "malignant trunk melanoma"@en, "malignant upper limb melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8923"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "skin melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, obo:DOID_4159, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_8924 obo:IAO_0000115 "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050124"^^xsd:string, "DOID:2220"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.3"^^xsd:string, "ICD9CM:287.31"^^xsd:string, "MESH:D016553"^^xsd:string, "NCI:C3446"^^xsd:string, "OMIM:188030"^^xsd:string, "SNOMEDCT_US_2021_03_01:234490009"^^xsd:string, "UMLS_CUI:C0398650"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune thrombocytopenic purpura"@en, "Immune thrombocytopenic purpura"@en, "idiopathic thrombocytopenic purpura"@en, "primary thrombocytopenic purpura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Ideopath thrombocytopenic pur"@en, "Idiopathic purpura"@en, "werlhof's disease"@en ; oboInOwl:id "DOID:8924"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autoimmune thrombocytopenic purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_8925 . obo:DOID_8925 oboInOwl:hasAlternativeId "DOID:8945"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "ICD9CM:287.39"^^xsd:string, "SNOMEDCT_US_2021_03_01:191435001"^^xsd:string, "UMLS_CUI:C0477317"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8925"^^xsd:string ; a owl:Class ; rdfs:label "primary thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060050 . obo:DOID_8927 obo:IAO_0000115 "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2847"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F81.9"^^xsd:string, "MESH:D007859"^^xsd:string, "NCI:C89334"^^xsd:string, "SNOMEDCT_US_2021_03_01:1855002"^^xsd:string, "SNOMEDCT_US_2021_03_01:192531005"^^xsd:string, "UMLS_CUI:C0023186"^^xsd:string, "UMLS_CUI:C0751265"^^xsd:string ; oboInOwl:hasExactSynonym "Academic skill disorder"@en, "learning disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8927"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "learning disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_8928 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8928"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8929 oboInOwl:hasAlternativeId "DOID:9048"^^xsd:string, "DOID:9083"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K29.4"^^xsd:string, "ICD9CM:535.1"^^xsd:string, "MESH:D005757"^^xsd:string, "NCI:C7405"^^xsd:string, "SNOMEDCT_US_2021_03_01:155713006"^^xsd:string, "UMLS_CUI:C0017154"^^xsd:string ; oboInOwl:hasExactSynonym "gastric atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8929"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrophic gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_4029 . obo:DOID_893 oboInOwl:hasDbXref "GARD:7893"^^xsd:string, "ICD10CM:E83.01"^^xsd:string, "MESH:D006527"^^xsd:string, "NCI:C84756"^^xsd:string, "OMIM:277900"^^xsd:string, "SNOMEDCT_US_2021_03_01:88518009"^^xsd:string, "UMLS_CUI:C0019202"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral pseudosclerosis"@en, "Westphal pseudosclerosis"@en, "Westphal-Strumpell syndrome"@en, "Wilson's disease"@en, "hepatolenticular degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:893"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Wilson disease"^^xsd:string ; rdfs:subClassOf obo:DOID_409, obo:DOID_896 . obo:DOID_8930 oboInOwl:hasDbXref "ICD10CM:C06.2"^^xsd:string, "ICD9CM:145.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:363391009"^^xsd:string, "UMLS_CUI:C0153379"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of retromolar area"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8930"^^xsd:string ; a owl:Class ; rdfs:label "retromolar area cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 . obo:DOID_8931 oboInOwl:hasDbXref "GARD:6389"^^xsd:string, "ICD10CM:D69.41"^^xsd:string, "ICD9CM:287.32"^^xsd:string, "MESH:C536380"^^xsd:string, "NCI:C61284"^^xsd:string, "SNOMEDCT_US_2021_03_01:75331009"^^xsd:string, "UMLS_CUI:C0272126"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8931"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Evans' syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8925 . obo:DOID_8932 obo:IAO_0000115 "An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster iridocyclitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8932"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster iridocyclitis"^^xsd:string ; owl:deprecated true . obo:DOID_8936 obo:IAO_0000115 "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M72.2"^^xsd:string, "ICD9CM:728.71"^^xsd:string, "MESH:D000071380"^^xsd:string, "NCI:C4680"^^xsd:string, "SNOMEDCT_US_2021_03_01:240032001"^^xsd:string, "UMLS_CUI:C0158360"^^xsd:string ; oboInOwl:hasExactSynonym "Dupuytren's contracture of foot"@en, "Ledderhose's disease"@en, "Plantar fascial fibromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plantar fascial fibromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_8937 oboInOwl:hasDbXref "ICD10CM:C14.2"^^xsd:string, "ICD9CM:149.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:94144008"^^xsd:string, "UMLS_CUI:C0153406"^^xsd:string ; oboInOwl:hasExactSynonym "Waldeyer ring cancer"@en, "malignant neoplasm of Waldeyer's ring"@en, "malignant tumor of Waldeyer's ring"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8937"^^xsd:string ; a owl:Class ; rdfs:label "Waldeyer's ring cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_8557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001735 ] ) ] . obo:DOID_8938 oboInOwl:hasExactSynonym "Reticulosarcoma of intrathoracic lymph nodes"@en, "Reticulosarcoma of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8938"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8939 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb"@en ; oboInOwl:id "DOID:8939"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_894 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:894"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nervous system heredodegenerative disease"^^xsd:string ; owl:deprecated true . obo:DOID_8941 obo:IAO_0000115 "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8823"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L21.0"^^xsd:string, "ICD9CM:690.11"^^xsd:string, "MESH:D063807"^^xsd:string, "SNOMEDCT_US_2021_03_01:48596006"^^xsd:string, "UMLS_CUI:C0221244"^^xsd:string ; oboInOwl:hasExactSynonym "Complement 5 dysfunction"@en, "Generalized seborrheic dermatitis of infants"@en, "Infantile seborrheic dermatitis"@en, "Infantile seborrhoeic dermatitis"@en, "Pityriasis capitis"@en, "Seborrhea capitis"@en, "Seborrhea sicca"@en, "Seborrhoea capitis"@en, "Seborrhoeic dermatitis of scalp"@en, "Seborrhoeic eczema of scalp"@en, "cradle cap"@en, "seborrhea capitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8941"^^xsd:string ; a owl:Class ; rdfs:label "seborrheic infantile dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8741 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8741 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000403 ] ) ] . obo:DOID_8943 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537935"^^xsd:string, "OMIM:122200"^^xsd:string ; oboInOwl:hasExactSynonym "familial amyloid neuropathy, Finnish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8943"^^xsd:string ; a owl:Class ; rdfs:label "lattice corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060441, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_8946 oboInOwl:hasDbXref "ICD9CM:362.06"^^xsd:string, "SNOMEDCT_US_2021_03_01:312905005"^^xsd:string, "UMLS_CUI:C0730278"^^xsd:string ; oboInOwl:hasExactSynonym "High risk non proliferative diabetic retinopathy"@en, "Severe NPDR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8946"^^xsd:string ; a owl:Class ; rdfs:label "severe nonproliferative diabetic retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_8947 . obo:DOID_8947 oboInOwl:hasDbXref "ICD9CM:362.0"^^xsd:string, "MESH:D003930"^^xsd:string, "NCI:C34538"^^xsd:string, "SNOMEDCT_US_2021_03_01:154678005"^^xsd:string, "UMLS_CUI:C0011884"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal abnormality - diabetes-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8947"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2462 . obo:DOID_895 oboInOwl:hasExactSynonym "Copper disorder"@en, "disorder of copper metabolism"@en, "disorder of copper metabolism (disorder)"@en, "disorder of copper metabolism NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:895"^^xsd:string ; a owl:Class ; rdfs:label "obsolete copper metabolism disease"^^xsd:string ; owl:deprecated true . obo:DOID_8955 obo:IAO_0000115 "An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)."^^xsd:string ; oboInOwl:hasDbXref "GARD:667"^^xsd:string, "ICD10CM:D64.3"^^xsd:string, "ICD9CM:285.0"^^xsd:string, "MESH:D000756"^^xsd:string, "NCI:C36078"^^xsd:string, "OMIM:PS300751"^^xsd:string, "SNOMEDCT_US_2021_03_01:154810008"^^xsd:string, "UMLS_CUI:C0002896"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA SIDEROBLASTIC"@en, "Anemia, hypochromic with iron loading"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8955"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sideroblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_12449 . obo:DOID_8956 obo:IAO_0000115 "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.010"^^xsd:string, "ICD9CM:051.01"^^xsd:string, "MESH:D015605"^^xsd:string, "SNOMEDCT_US_2021_03_01:154344005"^^xsd:string, "UMLS_CUI:C0010232"^^xsd:string ; oboInOwl:hasExactSynonym "yaba"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8956"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cowpox"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10243 ] . obo:DOID_8958 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8958"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8959 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8959"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_896 obo:IAO_0000115 "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008664"^^xsd:string, "UMLS_CUI:C0025534"^^xsd:string ; oboInOwl:hasExactSynonym "inborn metal metabolism disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:896"^^xsd:string ; a owl:Class ; rdfs:label "metal metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_8962 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8962"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus keratoconjunctivitis"^^xsd:string ; owl:deprecated true . obo:DOID_8964 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of spleen"@en, "Hodgkin's sarcoma of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8964"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8969 oboInOwl:hasDbXref "ICD10CM:C09.0"^^xsd:string, "ICD9CM:146.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:363394001"^^xsd:string, "UMLS_CUI:C0153384"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of tonsillar fossa"@en, "malignant tumor of tonsillar fossa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8969"^^xsd:string ; a owl:Class ; rdfs:label "tonsillar fossa cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8557 . obo:DOID_8970 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant."^^xsd:string ; oboInOwl:hasDbXref "GARD:7708"^^xsd:string, "ICD10CM:A81.1"^^xsd:string, "ICD9CM:046.2"^^xsd:string, "MESH:D013344"^^xsd:string, "NCI:C85171"^^xsd:string, "OMIM:260470"^^xsd:string, "SNOMEDCT_US_2021_03_01:84196008"^^xsd:string, "UMLS_CUI:C0038522"^^xsd:string ; oboInOwl:hasExactSynonym "Immunosuppressive measles encephalitis"@en, "Subacute Sclerosing Panencephalitis"@en, "Subacute sclerosing panencephalitis"@en, "Van Bogaert's sclerosing leukoencephalitis"@en, "subacute sclerosing leukoencephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8970"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subacute sclerosing panencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11234 ] . obo:DOID_8973 oboInOwl:hasExactSynonym "mixed cellularity Hodgkin's disease stage III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites"@en ; oboInOwl:id "DOID:8973"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8974 oboInOwl:hasExactSynonym "Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8974"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_8976 oboInOwl:hasExactSynonym "Tuberculosis of peripheral lymph nodes (disorder)"@en, "Tuberculosis of peripheral lymph nodes NOS (disorder)"@en, "Tuberculosis of peripheral lymph nodes, unspecified examination"@en, "tuberculosis of peripheral lymph nodes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8976"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete peripheral lymph node tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_8977 oboInOwl:hasExactSynonym "malignant histiocytosis involving lymph nodes of head, face and neck"@en, "malignant histiocytosis of lymph nodes of head, face and neck (disorder)"@en, "malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8977"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8978 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb"@en ; oboInOwl:id "DOID:8978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8979 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes"@en, "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes"@en ; oboInOwl:id "DOID:8979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_898 obo:IAO_0000115 "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion."^^xsd:string ; oboInOwl:hasDbXref "GARD:7419"^^xsd:string, "ICD10CM:Q61.3"^^xsd:string, "ICD9CM:753.12"^^xsd:string, "MESH:D007690"^^xsd:string, "NCI:C75464"^^xsd:string, "ORDO:730"^^xsd:string, "SNOMEDCT_US_2021_03_01:204955006"^^xsd:string, "UMLS_CUI:C0022680"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital biliary ectasias"@en, "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:898"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease."""^^xsd:string ; rdfs:label "autosomal dominant polycystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080322, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_8980 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder)"@en, "Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen"@en ; oboInOwl:id "DOID:8980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_8986 obo:IAO_0000115 "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8985"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000614"^^xsd:string, "GARD:7162"^^xsd:string, "ICD10CM:G47.41"^^xsd:string, "ICD9CM:347.0"^^xsd:string, "MESH:D009290"^^xsd:string, "NCI:C84489"^^xsd:string, "OMIM:161400"^^xsd:string, "OMIM:605841"^^xsd:string, "OMIM:609039"^^xsd:string, "OMIM:612417"^^xsd:string, "OMIM:612851"^^xsd:string, "OMIM:614223"^^xsd:string, "OMIM:614250"^^xsd:string, "ORDO:2073"^^xsd:string, "SNOMEDCT_US_2021_03_01:155059003"^^xsd:string, "UMLS_CUI:C0027404"^^xsd:string ; oboInOwl:hasExactSynonym "Narcolepsy, without cataplexy"@en, "paroxysmal sleep"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8986"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "narcolepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_899 oboInOwl:hasDbXref "ICD10CM:Q44.4"^^xsd:string, "MESH:D015529"^^xsd:string, "NCI:C2943"^^xsd:string, "SNOMEDCT_US_2021_03_01:30533003"^^xsd:string, "UMLS_CUI:C0008340"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital choledochal cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:899"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choledochal cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 . obo:DOID_8990 oboInOwl:hasExactSynonym "Hodgkin's granuloma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8990"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_8991 obo:IAO_0000115 "An uterus carcinoma in situ that is located_in the uterine cervix."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D06"^^xsd:string, "ICD9CM:233.1"^^xsd:string, "MESH:D018290"^^xsd:string, "SNOMEDCT_US_2021_03_01:92564006"^^xsd:string, "UMLS_CUI:C0851140"^^xsd:string ; oboInOwl:hasExactSynonym "CIN III"@en, "CIN III - carcinoma in situ of cervix"@en, "CIN III - severe dyskaryosis"@en, "Cervix Ca in situ"@en, "Severe Dysplasia of the Cervix Uteri"@en, "Severe dysplasia of cervix"@en, "carcinoma in situ of cervix"@en, "carcinoma in situ of uterine cervix"@en, "carcinoma of cervix stage 0"@en, "cervical intraepithelial neoplasia grade III with severe dysplasia"@en, "squamous intraepithelial neoplasia, grade III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8991"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix uteri carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_2253, obo:DOID_9108 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] ) ] . obo:DOID_8992 oboInOwl:hasExactSynonym "Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8992"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_8994 oboInOwl:hasExactSynonym "Hodgkin's sarcoma involving lymph nodes of head, face and neck"@en, "Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8994"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_8995 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8995"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_8997 obo:IAO_0000115 "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11868"^^xsd:string ; oboInOwl:hasDbXref "GARD:7422"^^xsd:string, "ICD10CM:D45"^^xsd:string, "ICD9CM:207.1"^^xsd:string, "ICD9CM:238.4"^^xsd:string, "MESH:D011087"^^xsd:string, "NCI:C3336"^^xsd:string, "OMIM:263300"^^xsd:string, "SNOMEDCT_US_2021_03_01:154644004"^^xsd:string, "SNOMEDCT_US_2021_03_01:188753004"^^xsd:string, "UMLS_CUI:C0032463"^^xsd:string, "UMLS_CUI:C0152272"^^xsd:string ; oboInOwl:hasExactSynonym "Osler-Vaquez syndrome"@en, "Polycythaemia rubra vera"@en, "Proliferative polycythaemia"@en, "chronic erythremia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:8997"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "polycythemia vera"^^xsd:string ; rdfs:subClassOf obo:DOID_2226 . obo:DOID_90 obo:IAO_0000115 "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7943"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004994"^^xsd:string, "NCI:C27156"^^xsd:string, "SNOMEDCT_US_2021_03_01:156633005"^^xsd:string, "UMLS_CUI:C0410606"^^xsd:string ; oboInOwl:hasExactSynonym "cervical disc degenerative disease"@en, "intervertebral disc degeneration"@en, "lumbar disc degeneration"@en, "vertebral disc disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:90"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "degenerative disc disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080007, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_900 oboInOwl:hasDbXref "ICD10CM:K76.81"^^xsd:string, "ICD9CM:573.5"^^xsd:string, "MESH:D020065"^^xsd:string, "SNOMEDCT_US_2021_03_01:371067004"^^xsd:string, "UMLS_CUI:C0600452"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatopulmonary syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:900"^^xsd:string ; a owl:Class ; rdfs:label "hepatopulmonary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_409 . obo:DOID_9001 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of spleen"@en, "Hodgkin's disease, nodular sclerosis of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving spleen"@en ; oboInOwl:id "DOID:9001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_9007 obo:IAO_0000115 "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation."^^xsd:string ; oboInOwl:hasDbXref "GARD:7711"^^xsd:string, "ICD9CM:798.0"^^xsd:string, "MESH:D013398"^^xsd:string, "NCI:C85173"^^xsd:string, "OMIM:272120"^^xsd:string, "SNOMEDCT_US_2021_03_01:51178009"^^xsd:string, "UMLS_CUI:C0038644"^^xsd:string ; oboInOwl:hasExactSynonym "Cot death"@en, "Crib death"@en, "SIDS"@en, "Sudden death of nonspecific cause in infancy"@en, "Sudden infant death syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9007"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sudden infant death syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_9008 obo:IAO_0000115 "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003778"^^xsd:string, "ICD10CM:L40.5"^^xsd:string, "ICD9CM:696.0"^^xsd:string, "MESH:D015535"^^xsd:string, "NCI:C61277"^^xsd:string, "SNOMEDCT_US_2021_03_01:33339001"^^xsd:string, "UMLS_CUI:C0003872"^^xsd:string ; oboInOwl:hasExactSynonym "arthritis psoriatica"@en, "arthropathic psoriasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "psoriatic arthropathy"@en ; oboInOwl:id "DOID:9008"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "psoriatic arthritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_901 oboInOwl:hasDbXref "NCI:C4949"^^xsd:string, "UMLS_CUI:C1112746"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:901"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_3571, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_9010 oboInOwl:hasExactSynonym "Burkitt's lymphoma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9010"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_9011 obo:IAO_0000115 "An in situ carcinoma that is located_in the larynx."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D02.0"^^xsd:string, "ICD9CM:231.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:92634009"^^xsd:string, "UMLS_CUI:C0154069"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of larynx"@en, "stage 0 carcinoma of the Larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9011"^^xsd:string ; a owl:Class ; rdfs:label "larynx carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_786, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001737 ] ) ] . obo:DOID_9017 oboInOwl:hasExactSynonym "Sezary's disease of lymph nodes of axilla and upper limb (disorder)"@en, "Szary's disease of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9017"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_9019 oboInOwl:hasExactSynonym "Mycosis fungoides of spleen"@en, "Mycosis fungoides of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mycosis fungoides involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_902 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:902"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_9020 oboInOwl:hasExactSynonym "Reticulosarcoma Involving Spleen"@en, "Reticulosarcoma of spleen"@en, "Reticulosarcoma of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_9021 oboInOwl:hasDbXref "ICD9CM:530.83"^^xsd:string, "NCI:C3953"^^xsd:string, "SNOMEDCT_US_2021_03_01:89057003"^^xsd:string, "UMLS_CUI:C0267095"^^xsd:string ; oboInOwl:hasExactSynonym "Leukoplakia of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9021"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal leukoplakia"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_9024 obo:IAO_0000115 "An in situ carcinoma that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D01.4"^^xsd:string, "ICD9CM:230.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:190172008"^^xsd:string, "UMLS_CUI:C0154065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9024"^^xsd:string ; a owl:Class ; rdfs:label "intestine carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_9025 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes"@en, "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes"@en ; oboInOwl:id "DOID:9025"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_903 oboInOwl:hasDbXref "NCI:C38162"^^xsd:string, "SNOMEDCT_US_2021_03_01:449072004"^^xsd:string, "UMLS_CUI:C0740372"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastrointestinal lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_3119, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_9033 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9033"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_9036 obo:IAO_0000115 "A salivary gland cancer that is located_in the parotid gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C07"^^xsd:string, "ICD9CM:142.0"^^xsd:string, "MESH:D010307"^^xsd:string, "NCI:C3525"^^xsd:string, "SNOMEDCT_US_2021_03_01:93949007"^^xsd:string, "UMLS_CUI:C0747273"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of parotid gland"@en, "malignant neoplasm of the Parotid"@en, "malignant tumor of parotid gland"@en, "parotid cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9036"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parotid gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10302, obo:DOID_8850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001831 ] ) ] . obo:DOID_9037 oboInOwl:hasExactSynonym "Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9037"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_9039 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma involving lymph nodes of head, face and neck"@en, "Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder)"@en, "Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9039"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_9040 oboInOwl:hasExactSynonym "Reticulosarcoma involving lymph nodes of head, face and neck"@en, "Reticulosarcoma of lymph nodes of head, face and neck (disorder)"@en, "Reticulosarcoma of lymph nodes of head, face, and neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9040"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_9041 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb"@en ; oboInOwl:id "DOID:9041"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_9042 oboInOwl:hasDbXref "ICD10CM:N84.0"^^xsd:string, "ICD9CM:621.0"^^xsd:string, "NCI:C3662"^^xsd:string, "SNOMEDCT_US_2021_03_01:266659005"^^xsd:string, "UMLS_CUI:C0156369"^^xsd:string ; oboInOwl:hasExactSynonym "endometrial/uterine polyp"@en, "polyp of Endometrium"@en, "polyp of the Uterus"@en, "polyp, uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyp of corpus uteri"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_9043 obo:IAO_0000115 "A cervix disease that is characterized by the presence of a hyperkeratotic lesion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N88.0"^^xsd:string, "ICD9CM:622.2"^^xsd:string, "NCI:C3976"^^xsd:string, "SNOMEDCT_US_2021_03_01:50923006"^^xsd:string, "UMLS_CUI:C0269194"^^xsd:string ; oboInOwl:hasExactSynonym "Leukoplakia of cervix"@en, "Leukoplakia of cervix uteri"@en, "Leukoplakia of the uterine Cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine cervix leukoplakia"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_9046 oboInOwl:hasExactSynonym "nodular lymphoma of lymph nodes of multiple sites"@en, "nodular lymphoma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9046"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nodular lymphoma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_905 obo:IAO_0000115 "A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:7917"^^xsd:string, "ICD10CM:E71.510"^^xsd:string, "MESH:D015211"^^xsd:string, "NCI:C85239"^^xsd:string, "ORDO:912"^^xsd:string, "SNOMEDCT_US_2021_03_01:88469006"^^xsd:string, "UMLS_CUI:C0043459"^^xsd:string ; oboInOwl:hasExactSynonym "cerebrohepatorenal syndrome"@en, "congenital iron overload"@en, "peroxisome biogenesis disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:905"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Zellweger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_9051 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes simplex meningitis (disorder)"@en, "Mollaret's meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9051"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_9052 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder)"@en, "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb"@en ; oboInOwl:id "DOID:9052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_9053 obo:IAO_0000115 "An in situ carcinoma that is located_in the bladder."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D09.0"^^xsd:string, "ICD9CM:233.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:92546004"^^xsd:string, "UMLS_CUI:C0154091"^^xsd:string ; oboInOwl:hasExactSynonym "Flat CIS of the urinary bladder"@en, "bladder Ca in situ"@en, "carcinoma in situ of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9053"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_9054 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9054"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9059 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever."^^xsd:string ; oboInOwl:hasExactSynonym "herpetic gingivostomatitis"@en, "primary herpetic gingivostomatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9059"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus gingivostomatitis"^^xsd:string ; owl:deprecated true . obo:DOID_906 obo:IAO_0000115 "An inherited metabolic disorder that involves peroxisome malfunction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.5"^^xsd:string, "ICD9CM:277.86"^^xsd:string, "MESH:D018901"^^xsd:string, "NCI:C85005"^^xsd:string, "SNOMEDCT_US_2021_03_01:238059005"^^xsd:string, "UMLS_CUI:C0282528"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisomal disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:906"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "peroxisomal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_9060 obo:IAO_0000115 "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.0"^^xsd:string, "ICD9CM:111.0"^^xsd:string, "MESH:D014010"^^xsd:string, "NCI:C112833"^^xsd:string, "SNOMEDCT_US_2021_03_01:56454009"^^xsd:string, "UMLS_CUI:C0040262"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Pityrosporum furfur"@en, "Pityriasis versicolor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pityriasis versicolor"^^xsd:string ; rdfs:subClassOf obo:DOID_0050133 . obo:DOID_9061 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9061"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alcohol induced sleep disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9063 obo:IAO_0000115 "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L00"^^xsd:string, "ICD9CM:695.81"^^xsd:string, "MESH:D013206"^^xsd:string, "NCI:C85077"^^xsd:string, "SNOMEDCT_US_2021_03_01:87758007"^^xsd:string, "UMLS_CUI:C0038165"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatitis exfoliativa neonatorum"@en, "Pemphigus neonatorum"@en, "Ritter disease"@en, "Scalded skin syndrome"@en, "Staphylococcal scalded skin syndrome"@en, "Toxic epidermal necrolysis, subcorneal type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9063"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Ritter's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000654 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050339 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_9064 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites"@en ; oboInOwl:id "DOID:9064"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites"^^xsd:string ; owl:deprecated true . obo:DOID_9065 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9136"^^xsd:string ; oboInOwl:hasDbXref "GARD:6881"^^xsd:string, "ICD10CM:B55"^^xsd:string, "ICD9CM:085"^^xsd:string, "MESH:D007896"^^xsd:string, "NCI:C34767"^^xsd:string, "SNOMEDCT_US_2021_03_01:266206004"^^xsd:string, "UMLS_CUI:C0023281"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Post Kala-Azar Dermal Leishmaniasis"@en, "Post-kala-azar dermal leishmaniasis"@en, "post-kala-azar dermal infectious disease by leishmaniasis"@en ; oboInOwl:id "DOID:9065"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "leishmaniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5658 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2789 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5658 ] ) ] . obo:DOID_9067 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9067"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_907 oboInOwl:hasDbXref "NCI:C5752"^^xsd:string, "UMLS_CUI:C1333965"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroma of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:907"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver fibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_916 . obo:DOID_9070 oboInOwl:hasExactSynonym "Colonic Inflammatory polyp"@en, "Pseudopolyposis of colon (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9070"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pseudopolyposis of colon"^^xsd:string ; owl:deprecated true . obo:DOID_9071 oboInOwl:hasExactSynonym "malignant histiocytosis of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9071"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant histiocytosis involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_9072 oboInOwl:hasDbXref "GARD:9622"^^xsd:string, "ICD10CM:M31.2"^^xsd:string, "ICD9CM:446.3"^^xsd:string, "MESH:D006103"^^xsd:string, "NCI:C8196"^^xsd:string, "SNOMEDCT_US_2021_03_01:58961005"^^xsd:string, "UMLS_CUI:C0018197"^^xsd:string ; oboInOwl:hasExactSynonym "Midfacial Necrotising Lesion"@en, "malignant granuloma of face"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lethal midline granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2825 . obo:DOID_9074 obo:IAO_0000115 "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002690"^^xsd:string, "GARD:10253"^^xsd:string, "ICD10CM:M32.9"^^xsd:string, "ICD9CM:710.0"^^xsd:string, "KEGG:05322"^^xsd:string, "MESH:D008180"^^xsd:string, "NCI:C3201"^^xsd:string, "OMIM:152700"^^xsd:string, "OMIM:300809"^^xsd:string, "OMIM:605480"^^xsd:string, "OMIM:608437"^^xsd:string, "OMIM:609903"^^xsd:string, "OMIM:609939"^^xsd:string, "OMIM:610065"^^xsd:string, "OMIM:610066"^^xsd:string, "OMIM:612254"^^xsd:string, "OMIM:612378"^^xsd:string, "OMIM:613145"^^xsd:string, "OMIM:614420"^^xsd:string, "ORDO:536"^^xsd:string, "SNOMEDCT_US_2021_03_01:156450004"^^xsd:string, "UMLS_CUI:C0024141"^^xsd:string ; oboInOwl:hasExactSynonym "Lupus Erythematosus, systemic"@en, "SLE - Lupus Erythematosus, systemic"@en, "disseminated lupus erythematosus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9074"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "systemic lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_65, obo:DOID_8857 . obo:DOID_9076 oboInOwl:hasDbXref "ICD10CM:H01.12"^^xsd:string, "ICD9CM:373.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:79291003"^^xsd:string, "UMLS_CUI:C0155180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9076"^^xsd:string ; a owl:Class ; rdfs:label "discoid lupus erythematosus of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_1894 . obo:DOID_9078 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9078"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9079 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9079"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_9080 oboInOwl:hasExactSynonym "primary macroglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "macroglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2345 . obo:DOID_9082 oboInOwl:hasExactSynonym "Mycosis fungoides of intrathoracic lymph nodes"@en, "Mycosis fungoides of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9082"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mycosis fungoides involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9084 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes"@en, "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes"@en ; oboInOwl:id "DOID:9084"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9087 obo:IAO_0000115 "An in situ carcinoma that is located_in the anus."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:230.6"^^xsd:string, "NCI:C157575"^^xsd:string, "SNOMEDCT_US_2021_03_01:92537005"^^xsd:string, "UMLS_CUI:C0154064"^^xsd:string ; oboInOwl:hasExactSynonym "anal carcinoma stage 0"@en, "anal intraepithelial neoplasia grade III"@en, "carcinoma in situ of anal canal"@en, "carcinoma in situ of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9087"^^xsd:string ; a owl:Class ; rdfs:label "anal carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000159 ] . obo:DOID_9088 oboInOwl:hasDbXref "GARD:7328"^^xsd:string, "ICD10CM:L41"^^xsd:string, "ICD9CM:696.2"^^xsd:string, "MESH:D010267"^^xsd:string, "NCI:C3312"^^xsd:string, "SNOMEDCT_US_2021_03_01:267851002"^^xsd:string, "UMLS_CUI:C0030491"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9088"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parapsoriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_9091 obo:IAO_0000115 "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.52"^^xsd:string, "ICD9CM:327.42"^^xsd:string, "MESH:D020187"^^xsd:string, "SNOMEDCT_US_2021_03_01:415238003"^^xsd:string, "UMLS_CUI:C0751772"^^xsd:string ; oboInOwl:hasExactSynonym "REM sleep behaviour disorder"@en, "Rapid eye movement sleep behavior disorder"@en, "Rapid eye movement sleep behaviour disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9091"^^xsd:string ; a owl:Class ; rdfs:label "REM sleep behavior disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_9092 oboInOwl:hasExactSynonym "Hodgkin's sarcoma of intrathoracic lymph nodes"@en, "Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9093 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9093"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9095 obo:IAO_0000115 "An in situ carcinoma that is located_in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D00.1"^^xsd:string, "ICD9CM:230.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:92585006"^^xsd:string, "UMLS_CUI:C0154059"^^xsd:string ; oboInOwl:hasExactSynonym "Severe esophageal dysplasia"@en, "carcinoma in situ of esophagus"@en, "carcinoma in situ of oesophagus"@en, "oesophagus carcinoma in situ"@en, "stage 0 carcinoma of the esophagus"@en, "stage 0 carcinoma of the oesophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9095"^^xsd:string ; a owl:Class ; rdfs:label "esophagus carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_6050, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060071 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_9097 oboInOwl:hasAlternativeId "DOID:9215"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:690"^^xsd:string, "NCI:C34591"^^xsd:string, "SNOMEDCT_US_2021_03_01:200762004"^^xsd:string, "UMLS_CUI:C0014747"^^xsd:string ; oboInOwl:hasExactSynonym "Erythematosquamous Dermatosis"@en, "Erythematosquamous dermatosis"@en, "Other erythematosquamous dermatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9097"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "erythematosquamous dermatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_9098 obo:IAO_0000115 "A skin disease that is located_in the sebaceous gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L70.8"^^xsd:string, "ICD9CM:706.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:201213005"^^xsd:string, "UMLS_CUI:C0029485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9098"^^xsd:string ; a owl:Class ; rdfs:label "sebaceous gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001821 ] ) ] . obo:DOID_910 oboInOwl:hasAlternativeId "DOID:909"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.4"^^xsd:string, "ICD9CM:191.4"^^xsd:string, "NCI:C5574"^^xsd:string, "SNOMEDCT_US_2021_03_01:126957005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93928006"^^xsd:string, "UMLS_CUI:C0153638"^^xsd:string, "UMLS_CUI:C1263889"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of occipital lobe"@en, "neoplasm of occipital lobe"@en, "tumor of Occipital Lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:910"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "occipital lobe neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002021 ] ) ] . obo:DOID_9103 oboInOwl:hasExactSynonym "carcinoma in situ of other and unspecified male genital organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete carcinoma in situ of male genital organs"^^xsd:string ; owl:deprecated true . obo:DOID_9105 oboInOwl:hasExactSynonym "Mycosis fungoides of intrapelvic lymph nodes"@en, "Mycosis fungoides of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mycosis fungoides involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9108 obo:IAO_0000115 "An in situ carcinoma that is located_in the uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:233.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:189342001"^^xsd:string, "UMLS_CUI:C0154086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9108"^^xsd:string ; a owl:Class ; rdfs:label "uterus carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_345, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] ) ] . obo:DOID_9109 oboInOwl:hasExactSynonym "Mycosis fungoides of intra-abdominal lymph nodes"@en, "Mycosis fungoides of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mycosis fungoides involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9111 obo:IAO_0000115 "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13553"^^xsd:string, "DOID:9110"^^xsd:string, "DOID:9122"^^xsd:string, "DOID:9167"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B55.1"^^xsd:string, "MESH:D016773"^^xsd:string, "NCI:C34768"^^xsd:string, "SNOMEDCT_US_2021_03_01:240637006"^^xsd:string, "UMLS_CUI:C0023283"^^xsd:string ; oboInOwl:hasExactSynonym "Asian Desert Cutaneous Leishmaniasis"@en, "Leproid leishmaniasis"@en, "diffuse cutaneous leishmaniasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9111"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cutaneous leishmaniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_9065, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_9113 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers."^^xsd:string ; oboInOwl:hasDbXref "GARD:9532"^^xsd:string, "ICD10CM:A58"^^xsd:string, "ICD9CM:099.2"^^xsd:string, "MESH:D006100"^^xsd:string, "NCI:C3065"^^xsd:string, "SNOMEDCT_US_2021_03_01:186947000"^^xsd:string, "UMLS_CUI:C0018190"^^xsd:string ; oboInOwl:hasExactSynonym "Granuloma Inguinale"@en, "Granuloma inguinale"@en, "Pudendal ulcer"@en, "donovanosis"@en, "pudendal ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9113"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "granuloma inguinale"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_39824 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_9114 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis."^^xsd:string ; oboInOwl:hasExactSynonym "Hemorrhagic varicella pneumonitis"@en, "Varicella pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9114"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicella-zoster virus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_9115 obo:IAO_0000115 "A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains."^^xsd:string ; oboInOwl:hasExactSynonym "rubella arthritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus arthritis"^^xsd:string ; owl:deprecated true . obo:DOID_9117 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of spleen"@en, "Hodgkin's disease, lymphocytic depletion of spleen (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving spleen"@en ; oboInOwl:id "DOID:9117"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_9119 obo:IAO_0000115 "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9118"^^xsd:string, "DOID:9171"^^xsd:string ; oboInOwl:hasDbXref "GARD:12757"^^xsd:string, "ICD10CM:C92.0"^^xsd:string, "ICD9CM:205.0"^^xsd:string, "ICDO:9861/3"^^xsd:string, "KEGG:05221"^^xsd:string, "MESH:D015470"^^xsd:string, "NCI:C3171"^^xsd:string, "OMIM:601626"^^xsd:string, "SNOMEDCT_US_2021_03_01:91861009"^^xsd:string, "UMLS_CUI:C0023467"^^xsd:string ; oboInOwl:hasExactSynonym "AML - acute Myeloid Leukemia"@en, "Leukemia, Myelocytic, acute"@en, "acute myeloblastic leukaemia"@en, "acute myeloblastic leukemia"@en, "acute myelogenous leukaemia"@en, "acute myelogenous leukemia"@en, "acute myeloid leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9119"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acute myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8692 . obo:DOID_9120 obo:IAO_0000115 "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85"^^xsd:string, "ICD9CM:277.3"^^xsd:string, "MESH:D000686"^^xsd:string, "NCI:C2868"^^xsd:string, "SNOMEDCT_US_2021_03_01:154769007"^^xsd:string, "UMLS_CUI:C0002726"^^xsd:string ; oboInOwl:hasExactSynonym "amyloid disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9120"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0014667 ; skos:exactMatch "MESH:D000686"^^xsd:string . obo:DOID_9121 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity, extranodal and solid organ sites"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites"^^xsd:string ; owl:deprecated true . obo:DOID_9123 obo:IAO_0000115 "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4408"^^xsd:string, "DOID:9081"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B00.0"^^xsd:string, "ICD9CM:054.0"^^xsd:string, "ICD9CM:054.41"^^xsd:string, "MESH:D007617"^^xsd:string, "NCI:C35620"^^xsd:string, "SNOMEDCT_US_2021_03_01:186544000"^^xsd:string, "SNOMEDCT_US_2021_03_01:52464003"^^xsd:string, "UMLS_CUI:C0153037"^^xsd:string, "UMLS_CUI:C0854331"^^xsd:string, "UMLS_CUI:C0936250"^^xsd:string ; oboInOwl:hasExactSynonym "Eczema herpeticum"@en, "Herpes simplex dermatitis of eyelid"@en, "Herpes simplex eyelid dermatitis"@en, "Herpes simplex virus dermatitis"@en, "herpes simplex dermatitis"@en, "herpes simplex virus eyelid dermatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eczema herpeticum"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8566, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_9124 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes"@en, "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes"@en ; oboInOwl:id "DOID:9124"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9125 oboInOwl:hasDbXref "ICD10CM:C03.1"^^xsd:string, "ICD9CM:143.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:93873003"^^xsd:string, "UMLS_CUI:C0432581"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of lower gingiva"@en, "malignant tumour of lower gum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9125"^^xsd:string ; a owl:Class ; rdfs:label "lower gum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8602 . obo:DOID_913 obo:IAO_0000115 "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020966"^^xsd:string, "NCI:C84574"^^xsd:string, "UMLS_CUI:C0752352"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrophic muscular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_440 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_440 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_9130 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes"@en, "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes"@en ; oboInOwl:id "DOID:9130"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9132 obo:IAO_0000115 "An in situ carcinoma that is located_in the liver."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D01.5"^^xsd:string, "ICD9CM:230.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:271525004"^^xsd:string, "UMLS_CUI:C0496854"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of liver and biliary system"@en, "carcinoma in situ of liver, gallbladder and bile ducts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9132"^^xsd:string ; a owl:Class ; rdfs:label "liver carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_409, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_9138 obo:IAO_0000115 "An in situ carcinoma that is located_in the stomach."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D00.2"^^xsd:string, "ICD9CM:230.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:92756002"^^xsd:string, "UMLS_CUI:C0154060"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma in situ of stomach"@en, "gastric carcinoma in situ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9138"^^xsd:string ; a owl:Class ; rdfs:label "stomach carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_76, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] ) ] . obo:DOID_914 oboInOwl:hasDbXref "ICD10CM:K76.4"^^xsd:string, "MESH:D010382"^^xsd:string, "SNOMEDCT_US_2021_03_01:197366003"^^xsd:string, "UMLS_CUI:C0030781"^^xsd:string ; oboInOwl:hasExactSynonym "hepatic peliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:914"^^xsd:string ; a owl:Class ; rdfs:label "peliosis hepatis"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_9140 oboInOwl:hasDbXref "ICD10CM:H01.14"^^xsd:string, "ICD9CM:373.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:55846006"^^xsd:string, "UMLS_CUI:C0155179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9140"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_1894 . obo:DOID_9141 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage."^^xsd:string ; oboInOwl:hasExactSynonym "Herpetic meningoencephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9141"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus meningoencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_9142 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites"@en, "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder)"@en, "stage III Hodgkin's Lymphoma Lymphocyte Depletion type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites"@en ; oboInOwl:id "DOID:9142"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites"^^xsd:string ; owl:deprecated true . obo:DOID_9143 oboInOwl:hasExactSynonym "Burkitt's lymphoma of spleen (disorder)"@en, "Burkitt's tumor of spleen (disorder)"@en, "Splenic Burkitt's Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9143"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving spleen"^^xsd:string ; owl:deprecated true . obo:DOID_9146 obo:IAO_0000115 "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B55.0"^^xsd:string, "ICD9CM:085.0"^^xsd:string, "MESH:D007898"^^xsd:string, "NCI:C34771"^^xsd:string, "OMIM:608207"^^xsd:string, "OMIM:611381"^^xsd:string, "OMIM:611382"^^xsd:string, "ORDO:507"^^xsd:string, "SNOMEDCT_US_2021_03_01:48115004"^^xsd:string, "UMLS_CUI:C0023290"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by visceral leishmaniasis"@en, "Kala-Azar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9146"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "visceral leishmaniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, obo:DOID_2529, obo:DOID_409, obo:DOID_9065, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_9149 oboInOwl:hasDbXref "ICD10CM:C05.0"^^xsd:string, "ICD9CM:145.2"^^xsd:string, "NCI:C3528"^^xsd:string, "SNOMEDCT_US_2021_03_01:93822006"^^xsd:string, "UMLS_CUI:C0153375"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of hard palate"@en, "malignant tumor of hard palate"@en, "malignant tumour of hard palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9149"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hard palate cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003216 ] ) ] . obo:DOID_9150 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes"@en, "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes"@en ; oboInOwl:id "DOID:9150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9153 obo:IAO_0000115 "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:050.1"^^xsd:string, "MESH:D012899"^^xsd:string, "NCI:C34365"^^xsd:string, "SNOMEDCT_US_2021_03_01:72294005"^^xsd:string, "UMLS_CUI:C0001906"^^xsd:string ; oboInOwl:hasExactSynonym "Alastrim"@en, "Variola minor"@en, "cottonpox"@en, "milkpox"@en, "whitepox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9153"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "variola minor"^^xsd:string ; rdfs:subClassOf obo:DOID_8736 . obo:DOID_9155 obo:IAO_0000115 "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B55.2"^^xsd:string, "ICD9CM:085.5"^^xsd:string, "MESH:D007897"^^xsd:string, "SNOMEDCT_US_2021_03_01:721813000"^^xsd:string, "UMLS_CUI:C1328252"^^xsd:string ; oboInOwl:hasExactSynonym "American Cutaneous Leishmaniasis"@en, "American cutaneous leishmaniasis"@en, "American mucocutaneous leishmaniasis"@en, "Cutaneous leishmaniasis, American"@en, "Mucocutaneous leishmaniasis"@en, "Mucocutaneous leishmaniasis, American"@en, "New World cutaneous leishmaniasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9155"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "mucocutaneous leishmaniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_9065, obo:DOID_974, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001557 ] . obo:DOID_9157 oboInOwl:hasExactSynonym "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes"@en, "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes"@en ; oboInOwl:id "DOID:9157"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9158 oboInOwl:hasExactSynonym "Sezary's disease of intra-abdominal lymph nodes (disorder)"@en, "Szary's disease of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9158"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9159 obo:IAO_0000115 "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A48.0"^^xsd:string, "ICD9CM:040.0"^^xsd:string, "MESH:D005738"^^xsd:string, "SNOMEDCT_US_2021_03_01:186413007"^^xsd:string, "UMLS_CUI:C0017105"^^xsd:string ; oboInOwl:hasExactSynonym "Gas bacillus infection"@en, "Gas gangrene"@en, "Myonecrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9159"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "gas gangrene"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_0080000, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1502 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000593 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050339 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_916 oboInOwl:hasAlternativeId "DOID:692"^^xsd:string ; oboInOwl:hasDbXref "NCI:C7103"^^xsd:string, "NCI:C7106"^^xsd:string, "UMLS_CUI:C1333419"^^xsd:string, "UMLS_CUI:C1333976"^^xsd:string ; oboInOwl:hasExactSynonym "epithelial hepatic and intrahepatic bile duct neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:916"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089, obo:DOID_3117, obo:DOID_409 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_9161 oboInOwl:hasExactSynonym "Sezary's disease of intrapelvic lymph nodes (disorder)"@en, "Szary's disease of intrapelvic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9161"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9164 obo:IAO_0000115 "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K22.0"^^xsd:string, "ICD9CM:530.0"^^xsd:string, "MESH:D004931"^^xsd:string, "NCI:C84699"^^xsd:string, "OMIM:200400"^^xsd:string, "SNOMEDCT_US_2021_03_01:17460002"^^xsd:string, "UMLS_CUI:C0014848"^^xsd:string ; oboInOwl:hasExactSynonym "Lack of reflex relaxation of lower oesophageal sphincter"@en, "achalasia of cardia"@en, "achalasia of esophagus"@en, "cardiospasm"@en, "esophageal achalasia"@en, "hypertensive lower esophageal sphincter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9164"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "achalasia"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_9165 oboInOwl:hasDbXref "ICD10CM:L98.1"^^xsd:string, "ICD9CM:698.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:402736003"^^xsd:string, "UMLS_CUI:C1274184"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatitis artefacta"@en, "Dermatitis factitia"@en, "Dermatitis ficta"@en, "Factitious skin disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9165"^^xsd:string ; a owl:Class ; rdfs:label "neurotic excoriation"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_9169 obo:IAO_0000115 "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D82.0"^^xsd:string, "ICD9CM:279.12"^^xsd:string, "MESH:D014923"^^xsd:string, "NCI:C3448"^^xsd:string, "OMIM:301000"^^xsd:string, "SNOMEDCT_US_2021_03_01:36070007"^^xsd:string, "UMLS_CUI:C0043194"^^xsd:string ; oboInOwl:hasExactSynonym "Wiskott syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Wiskott-Aldrich syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_917 oboInOwl:hasDbXref "NCI:C5753"^^xsd:string, "UMLS_CUI:C1333968"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_916 . obo:DOID_9173 oboInOwl:hasDbXref "ICD10CM:C08.0"^^xsd:string, "ICD9CM:142.1"^^xsd:string, "NCI:C3526"^^xsd:string, "SNOMEDCT_US_2021_03_01:363380002"^^xsd:string, "UMLS_CUI:C0153360"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of submaxillary gland"@en, "malignant tumor of submandibular gland"@en, "malignant tumor of the Submandibular gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9173"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "submandibular gland cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_12897, obo:DOID_8850 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001736 ] ) ] . obo:DOID_9174 obo:IAO_0000115 "An in situ carcinoma that is located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D01.2"^^xsd:string, "ICD9CM:230.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:92696009"^^xsd:string, "UMLS_CUI:C0154062"^^xsd:string ; oboInOwl:hasExactSynonym "Severe Rectal Dysplasia"@en, "Severe dysplasia of rectum"@en, "carcinoma in situ of rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9174"^^xsd:string ; a owl:Class ; rdfs:label "rectum carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001052 ] ) ] . obo:DOID_918 oboInOwl:hasDbXref "NCI:C5858"^^xsd:string, "SNOMEDCT_US_2021_03_01:717329009"^^xsd:string, "UMLS_CUI:C1333967"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory Pseudotumor of the Liver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:918"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver inflammatory pseudotumor"^^xsd:string ; rdfs:subClassOf obo:DOID_409 . obo:DOID_9180 obo:IAO_0000115 "An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon."^^xsd:string ; oboInOwl:hasExactSynonym "Amebic nondysenteric colitis (disorder)"@en, "amoebic colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9180"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amebic colitis"^^xsd:string ; owl:deprecated true . obo:DOID_9181 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11901"^^xsd:string, "DOID:11904"^^xsd:string ; oboInOwl:hasDbXref "GARD:652"^^xsd:string, "ICD10CM:A06"^^xsd:string, "ICD9CM:006"^^xsd:string, "MESH:D000562"^^xsd:string, "NCI:C84551"^^xsd:string, "SNOMEDCT_US_2021_03_01:387754006"^^xsd:string, "UMLS_CUI:C0002438"^^xsd:string ; oboInOwl:hasExactSynonym "amoebiasis"@en, "entamoebiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "chronic intestinal amebiasis"@en ; oboInOwl:id "DOID:9181"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amebiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5759 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D000562"^^xsd:string . obo:DOID_9182 obo:IAO_0000115 "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causeing lesions and blisters that are easily ruptured."^^xsd:string ; oboInOwl:hasDbXref "GARD:7352"^^xsd:string, "ICD10CM:L10"^^xsd:string, "ICD9CM:694.4"^^xsd:string, "MESH:D010392"^^xsd:string, "NCI:C34909"^^xsd:string, "SNOMEDCT_US_2021_03_01:156355008"^^xsd:string, "UMLS_CUI:C0030807"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9182"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pemphigus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, obo:DOID_8502, [ a owl:Class ; owl:intersectionOf (obo:DOID_2723 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000009 ] ) ] . obo:DOID_9184 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9184"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sleep arousal disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9186 oboInOwl:hasExactSynonym "Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder)"@en, "Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9186"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_9188 oboInOwl:hasDbXref "ICD10CM:C06.1"^^xsd:string, "ICD9CM:145.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:187658004"^^xsd:string, "UMLS_CUI:C0153374"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of vestibule of mouth"@en, "malignant tumor of vestibule of mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9188"^^xsd:string ; a owl:Class ; rdfs:label "vestibule of mouth cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8618 . obo:DOID_9189 oboInOwl:hasExactSynonym "Generalized hyperhidrosis (context-dependent category)"@en, "Generalized hyperhidrosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9189"^^xsd:string ; a owl:Class ; rdfs:label "obsolete generalized hyperhidrosis"^^xsd:string ; owl:deprecated true . obo:DOID_9191 oboInOwl:hasDbXref "ICD9CM:362.07"^^xsd:string, "SNOMEDCT_US_2021_03_01:312912001"^^xsd:string, "UMLS_CUI:C0730285"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9191"^^xsd:string ; a owl:Class ; rdfs:label "diabetic macular edema"^^xsd:string ; rdfs:subClassOf obo:DOID_8947 . obo:DOID_9192 oboInOwl:hasDbXref "ICD10CM:K22.4"^^xsd:string, "ICD9CM:530.5"^^xsd:string, "MESH:D015154"^^xsd:string, "SNOMEDCT_US_2021_03_01:40846004"^^xsd:string, "UMLS_CUI:C0014858"^^xsd:string ; oboInOwl:hasExactSynonym "Dyskinesia of oesophagus"@en, "Oesophageal dysmotility"@en, "Oesophageal motor disorder"@en, "esophageal dysmotility"@en, "esophageal motility disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9192"^^xsd:string ; a owl:Class ; rdfs:label "dyskinesia of esophagus"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_9195 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8565"^^xsd:string, "DOID:8624"^^xsd:string, "DOID:9023"^^xsd:string ; oboInOwl:hasExactSynonym "Dendritic Keratitis"@en, "herpes simplex disciform keratitis"@en, "ocular herpes simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9195"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_9198 oboInOwl:hasExactSynonym "Sezary's disease of intrathoracic lymph nodes (disorder)"@en, "Szary's disease of intrathoracic lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9198"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sezary's disease involving intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9199 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9199"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cataplexy and narcolepsy"^^xsd:string ; owl:deprecated true . obo:DOID_92 obo:IAO_0000115 "A communication disorder that involves difficulty with the act of speech production."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013064"^^xsd:string, "NCI:C5041"^^xsd:string, "UMLS_CUI:C0037822"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:92"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "speech disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2033 . obo:DOID_920 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:920"^^xsd:string ; a owl:Class ; rdfs:label "obsolete childhood liver neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_9201 obo:IAO_0000115 "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes."^^xsd:string ; oboInOwl:hasDbXref "GARD:12344"^^xsd:string, "ICD10CM:L43"^^xsd:string, "ICD9CM:697.0"^^xsd:string, "MESH:D008010"^^xsd:string, "NCI:C3189"^^xsd:string, "SNOMEDCT_US_2021_03_01:156377007"^^xsd:string, "UMLS_CUI:C0023646"^^xsd:string ; oboInOwl:hasExactSynonym "Lichen, ruber planus"@en, "lichen ruber planus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lichen planus"^^xsd:string ; rdfs:subClassOf obo:DOID_8574 ; skos:exactMatch "MESH:D008010"^^xsd:string . obo:DOID_9202 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9202"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9203 oboInOwl:hasExactSynonym "Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9203"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9206 oboInOwl:hasDbXref "EFO:0000280"^^xsd:string, "GARD:20"^^xsd:string, "ICD10CM:K22.7"^^xsd:string, "ICD9CM:530.85"^^xsd:string, "MESH:D001471"^^xsd:string, "NCI:C2891"^^xsd:string, "OMIM:614266"^^xsd:string, "SNOMEDCT_US_2021_03_01:302914006"^^xsd:string, "UMLS_CUI:C0004763"^^xsd:string ; oboInOwl:hasExactSynonym "Barrett esophagus"@en, "Barrett's esophagus with esophagitis"@en, "Barrett's oesophagus"@en, "Barrett's ulcer of esophagus"@en, "Barretts syndrome"@en, "ulcerative esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Barrett's esophagus"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_9207 obo:IAO_0000115 "A sleep disorder that involves involuntary limb movement during sleep."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.61"^^xsd:string, "ICD9CM:327.51"^^xsd:string, "MESH:D020189"^^xsd:string, "SNOMEDCT_US_2021_03_01:418763003"^^xsd:string, "UMLS_CUI:C0751774"^^xsd:string ; oboInOwl:hasExactSynonym "nocturnal myoclonus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9207"^^xsd:string ; a owl:Class ; rdfs:label "periodic limb movement disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_9210 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache."^^xsd:string ; oboInOwl:hasDbXref "GARD:7525"^^xsd:string, "ICD10CM:B02.21"^^xsd:string, "ICD9CM:053.11"^^xsd:string, "MESH:D016697"^^xsd:string, "NCI:C84763"^^xsd:string, "SNOMEDCT_US_2021_03_01:21954000"^^xsd:string, "UMLS_CUI:C0017409"^^xsd:string ; oboInOwl:hasExactSynonym "Geniculate herpes zoster"@en, "Herpes Zoster Oticus"@en, "Herpes zoster auricularis"@en, "Herpetic geniculate ganglionitis"@en, "Ramsay Hunt syndrome type 2"@en, "Ramsay Hunt syndrome type II"@en, "Ramsey Hunt syndrome"@en, "geniculate neuralgia"@en, "nervus intermedius neuralgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "herpes zoster oticus"^^xsd:string ; rdfs:subClassOf obo:DOID_1756, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10335 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000393 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000399 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001647 ] . obo:DOID_9212 obo:IAO_0000115 "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma."^^xsd:string ; oboInOwl:hasDbXref "GARD:7401"^^xsd:string, "ICD10CM:L44.0"^^xsd:string, "ICD9CM:696.4"^^xsd:string, "MESH:D010916"^^xsd:string, "NCI:C85014"^^xsd:string, "OMIM:173200"^^xsd:string, "SNOMEDCT_US_2021_03_01:3755001"^^xsd:string, "UMLS_CUI:C0032027"^^xsd:string ; oboInOwl:hasExactSynonym "Devergie's disease"@en, "Pityriasis rubra pilaris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9212"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pityriasis rubra pilaris"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_9214 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes simplex iridocyclitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9214"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus iridocyclitis"^^xsd:string ; owl:deprecated true . obo:DOID_9216 oboInOwl:hasExactSynonym "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder)"@en, "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck"@en ; oboInOwl:id "DOID:9216"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_9217 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection."^^xsd:string ; oboInOwl:hasExactSynonym "Herpes Zoster Dermatitis of eyelid"@en, "Herpes zoster dermatitis of eyelids (disorder)"@en, "Herpes zoster with dermatitis of eyelid (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9217"^^xsd:string ; a owl:Class ; rdfs:label "obsolete herpes zoster eyelid dermatitis"^^xsd:string ; owl:deprecated true . obo:DOID_9220 obo:IAO_0000115 "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020182"^^xsd:string, "NCI:C116046"^^xsd:string, "OMIM:107640"^^xsd:string, "OMIM:207720"^^xsd:string, "UMLS_CUI:C0520680"^^xsd:string ; oboInOwl:hasExactSynonym "primary central sleep apnea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "central sleep apnea syndrome"@en ; oboInOwl:id "DOID:9220"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "central sleep apnea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050847 . obo:DOID_9222 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9222"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb"^^xsd:string ; owl:deprecated true . obo:DOID_9224 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9224"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vulva herpetic infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9225 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9225"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_9227 oboInOwl:hasExactSynonym "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder)"@en, "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder)"@en, "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck"@en ; oboInOwl:id "DOID:9227"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck"^^xsd:string ; owl:deprecated true . obo:DOID_9228 obo:IAO_0000115 "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester."^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Rubella"@en, "Congenital Rubella syndrome"@en, "Congenital rubella syndrome"@en, "Gestational rubella syndrome (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital rubella"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_9230 obo:IAO_0000115 "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:705.81"^^xsd:string, "MESH:D011146"^^xsd:string, "SNOMEDCT_US_2021_03_01:402567004"^^xsd:string, "UMLS_CUI:C0032633"^^xsd:string ; oboInOwl:hasExactSynonym "Cheiropompholyx"@en, "DYSHYDROTIC ECZEMA"@en, "Vesicular eczema of hands and/or feet"@en, "dyshidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9230"^^xsd:string ; a owl:Class ; rdfs:label "pompholyx"^^xsd:string ; rdfs:subClassOf obo:DOID_1383 . obo:DOID_9234 obo:IAO_0000115 "An in situ carcinoma that is located_in the kidney."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D09.1"^^xsd:string, "ICD9CM:233.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:190185006"^^xsd:string, "UMLS_CUI:C0154092"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9234"^^xsd:string ; a owl:Class ; rdfs:label "kidney carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_557, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_9235 oboInOwl:hasDbXref "ICD10CM:C12"^^xsd:string, "ICD9CM:148.1"^^xsd:string, "NCI:C3531"^^xsd:string, "SNOMEDCT_US_2021_03_01:363401000"^^xsd:string, "UMLS_CUI:C0153400"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of pyriform fossa"@en, "malignant neoplasm of the Pyriform Fossa"@en, "malignant tumor of pyriform fossa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyriform sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_8533 . obo:DOID_9240 obo:IAO_0000115 "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature."^^xsd:string ; oboInOwl:hasDbXref "GARD:6377"^^xsd:string, "ICD10CM:I73.81"^^xsd:string, "ICD9CM:443.82"^^xsd:string, "MESH:D004916"^^xsd:string, "NCI:C34593"^^xsd:string, "OMIM:133020"^^xsd:string, "SNOMEDCT_US_2021_03_01:238777005"^^xsd:string, "UMLS_CUI:C0014804"^^xsd:string ; oboInOwl:hasExactSynonym "erythermalgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9240"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "erythromelalgia"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_9241 oboInOwl:hasExactSynonym "Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9241"^^xsd:string ; a owl:Class ; rdfs:label "obsolete reticulosarcoma involving lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_9245 obo:IAO_0000115 "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts."^^xsd:string ; oboInOwl:hasDbXref "GARD:804"^^xsd:string, "ICD10CM:Q44.7"^^xsd:string, "MESH:D016738"^^xsd:string, "NCI:C35139"^^xsd:string, "OMIM:118450"^^xsd:string, "OMIM:610205"^^xsd:string, "ORDO:52"^^xsd:string, "SNOMEDCT_US_2021_03_01:31742004"^^xsd:string, "UMLS_CUI:C0085280"^^xsd:string ; oboInOwl:hasExactSynonym "Alagille-Watson syndrome"@en, "Arteriohepatic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9245"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alagille syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_409 ; skos:exactMatch "MESH:D016738"^^xsd:string . obo:DOID_9246 obo:IAO_0000115 "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia."^^xsd:string ; oboInOwl:hasDbXref "MESH:D028243"^^xsd:string, "ORDO:85458"^^xsd:string, "SNOMEDCT_US_2021_03_01:45639009"^^xsd:string, "UMLS_CUI:C0268393"^^xsd:string, "UMLS_CUI:C1510489"^^xsd:string, "UMLS_CUI:C1527338"^^xsd:string, "UMLS_CUI:C1956349"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral Hemorrhage, Hereditary, with Amyloidosis"@en, "Hereditary Cerebral Hemorrhage with Amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9246"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "cerebral amyloid angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_9248 oboInOwl:hasDbXref "GARD:7305"^^xsd:string, "MESH:D054975"^^xsd:string, "NCI:C84987"^^xsd:string, "OMIM:146510"^^xsd:string, "SNOMEDCT_US_2021_03_01:56677004"^^xsd:string, "UMLS_CUI:C0265220"^^xsd:string ; oboInOwl:hasExactSynonym "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9248"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Pallister-Hall syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_9249 obo:IAO_0000115 "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537599"^^xsd:string, "OMIM:269860"^^xsd:string, "SNOMEDCT_US_2021_03_01:254052001"^^xsd:string, "UMLS_CUI:C0432198"^^xsd:string ; oboInOwl:hasExactSynonym "type IV short rib polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9249"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Beemer-Langer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001789 ] . obo:DOID_9250 obo:IAO_0000115 "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:5721"^^xsd:string, "MESH:D055673"^^xsd:string, "NCI:C84531"^^xsd:string, "OMIM:200990"^^xsd:string, "SNOMEDCT_US_2021_03_01:715951007"^^xsd:string, "UMLS_CUI:C0796147"^^xsd:string ; oboInOwl:hasExactSynonym "ACLS"@en, "SCHINZEL ACROCALLOSAL SYNDROME"@en, "Schinzel syndrome 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9250"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrocallosal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001274 ] ; skos:exactMatch "MESH:D055673"^^xsd:string . obo:DOID_9252 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids."^^xsd:string ; oboInOwl:hasDbXref "GARD:5793"^^xsd:string, "ICD10CM:E72.9"^^xsd:string, "ICD9CM:270"^^xsd:string, "MESH:D000592"^^xsd:string, "NCI:C97090"^^xsd:string, "SNOMEDCT_US_2021_03_01:42930003"^^xsd:string, "UMLS_CUI:C0002514"^^xsd:string ; oboInOwl:hasExactSynonym "inborn errors of amino acid metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amino acid metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_9253 oboInOwl:hasDbXref "GARD:8598"^^xsd:string, "ICD10CM:C49.A"^^xsd:string, "MESH:D046152"^^xsd:string, "NCI:C3868"^^xsd:string, "OMIM:606764"^^xsd:string, "SNOMEDCT_US_2021_03_01:128755003"^^xsd:string, "UMLS_CUI:C0238198"^^xsd:string ; oboInOwl:hasExactSynonym "GANT"@en, "GIST"@en, "Stromal tumor of gastrointestinal tract"@en, "Stromal tumour of gastrointestinal tract"@en, "gastrointestinal stromal tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9253"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gastrointestinal stromal tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_9254 obo:IAO_0000115 "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C94.3"^^xsd:string, "MESH:D007946"^^xsd:string, "NCI:C3169"^^xsd:string, "SNOMEDCT_US_2021_03_01:110002002"^^xsd:string, "UMLS_CUI:C0023461"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9254"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mast-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240, obo:DOID_3664, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000097 ] . obo:DOID_9255 obo:IAO_0000115 "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language."^^xsd:string ; oboInOwl:hasDbXref "GARD:8436"^^xsd:string, "MESH:C563003"^^xsd:string, "OMIM:600274"^^xsd:string, "ORDO:282"^^xsd:string, "SNOMEDCT_US_2021_03_01:42369001"^^xsd:string, "UMLS_CUI:C0520716"^^xsd:string ; oboInOwl:hasExactSynonym "Wilhemsen-Lynch disease"@en, "frontotemporal lobar degeneration"@en, "multiple system tauopathy with presenile dementia"@en, "pallidopontonigral degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9255"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "frontotemporal dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_1307, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ; skos:exactMatch "MESH:D057180"^^xsd:string . obo:DOID_9256 obo:IAO_0000115 "A large intestine cancer that is located_in the colon and/or located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18.9"^^xsd:string, "KEGG:05210"^^xsd:string, "MESH:D015179"^^xsd:string, "NCI:C2956"^^xsd:string, "NCI:C4978"^^xsd:string, "OMIM:114500"^^xsd:string, "SNOMEDCT_US_2021_03_01:126837005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93854002"^^xsd:string, "UMLS_CUI:C0009404"^^xsd:string, "UMLS_CUI:C0346629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9256"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "colorectal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5672 . obo:DOID_9258 obo:IAO_0000115 "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5525"^^xsd:string, "MESH:D014849"^^xsd:string, "NCI:C75008"^^xsd:string, "NCI:C85222"^^xsd:string, "OMIM:PS193500"^^xsd:string, "ORDO:3440"^^xsd:string, "ORDO:895"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010606009"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010638004"^^xsd:string, "SNOMEDCT_US_2021_03_01:47434006"^^xsd:string, "UMLS_CUI:C0079661"^^xsd:string, "UMLS_CUI:C1847800"^^xsd:string, "UMLS_CUI:C3266898"^^xsd:string ; oboInOwl:hasExactSynonym "Waardenburg Shah syndrome"@en, "Waardenburg syndrome"@en, "van der Hoeve Halbertsona Waardenburg syndrome"@en ; oboInOwl:hasNarrowSynonym "Waardenburg, types I and/or II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9258"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Waardenburg's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_9261 obo:IAO_0000115 "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8813"^^xsd:string, "DOID:8814"^^xsd:string, "DOID:9057"^^xsd:string, "DOID:9144"^^xsd:string, "DOID:9197"^^xsd:string, "DOID:9229"^^xsd:string ; oboInOwl:hasDbXref "GARD:7163"^^xsd:string, "ICD10CM:C11"^^xsd:string, "ICD10CM:C11.0"^^xsd:string, "ICD10CM:C11.1"^^xsd:string, "ICD10CM:C11.2"^^xsd:string, "ICD10CM:C11.3"^^xsd:string, "ICD9CM:147"^^xsd:string, "ICD9CM:147.0"^^xsd:string, "ICD9CM:147.1"^^xsd:string, "ICD9CM:147.2"^^xsd:string, "ICD9CM:147.3"^^xsd:string, "MESH:D009303"^^xsd:string, "NCI:C9321"^^xsd:string, "OMIM:161550"^^xsd:string, "OMIM:607107"^^xsd:string, "ORDO:150"^^xsd:string, "SNOMEDCT_US_2021_03_01:187692001"^^xsd:string, "SNOMEDCT_US_2021_03_01:187693006"^^xsd:string, "SNOMEDCT_US_2021_03_01:187700006"^^xsd:string, "SNOMEDCT_US_2021_03_01:363398003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93919005"^^xsd:string, "SNOMEDCT_US_2021_03_01:94078000"^^xsd:string, "UMLS_CUI:C0153392"^^xsd:string, "UMLS_CUI:C0153393"^^xsd:string, "UMLS_CUI:C0153394"^^xsd:string, "UMLS_CUI:C0153395"^^xsd:string, "UMLS_CUI:C0153396"^^xsd:string, "UMLS_CUI:C0238301"^^xsd:string ; oboInOwl:hasExactSynonym "Nasopharyngeal carcinoma"@en, "malignant Nasopharyngeal tumor"@en, "malignant neoplasm of nasopharynx"@en, "nasopharynx cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of nasopharynx"@en ; oboInOwl:id "DOID:9261"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "nasopharynx carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_0060119, obo:DOID_305, obo:DOID_9561, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001728 ] ) ] . obo:DOID_9263 obo:IAO_0000115 "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine."^^xsd:string ; oboInOwl:hasDbXref "GARD:10770"^^xsd:string, "ICD10CM:E72.11"^^xsd:string, "MESH:D006712"^^xsd:string, "NCI:C84765"^^xsd:string, "OMIM:236200"^^xsd:string, "OMIM:236250"^^xsd:string, "ORDO:394"^^xsd:string, "SNOMEDCT_US_2021_03_01:190709008"^^xsd:string, "UMLS_CUI:C0019880"^^xsd:string ; oboInOwl:hasExactSynonym "CBS deficiency"@en, "cystathionine beta synthase deficiency"@en, "cystathionine synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9263"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "homocystinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003355 ] . obo:DOID_9264 oboInOwl:hasExactSynonym "Disturbance of sulfur-bearing amino acid metabolism NOS (disorder)"@en, "Disturbance of sulphur-bearing amino-acid metabolism NOS"@en, "Disturbances of sulphur-bearing amino-acid metabolism"@en, "Sulphuraminoacidaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9264"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sulfuraminoacidemia"^^xsd:string ; owl:deprecated true . obo:DOID_9265 obo:IAO_0000115 "An amino acid metabolic disorder that involves deficiency in histidine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.4"^^xsd:string, "ICD9CM:270.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:44176004"^^xsd:string, "UMLS_CUI:C0268512"^^xsd:string ; oboInOwl:hasExactSynonym "Disturbances of histidine metabolism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9265"^^xsd:string ; a owl:Class ; rdfs:label "histidine metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9266 obo:IAO_0000115 "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder."^^xsd:string ; oboInOwl:hasDbXref "GARD:6237"^^xsd:string, "ICD10CM:E72.01"^^xsd:string, "MESH:D003555"^^xsd:string, "NCI:C84664"^^xsd:string, "OMIM:220100"^^xsd:string, "ORDO:214"^^xsd:string, "SNOMEDCT_US_2021_03_01:154738008"^^xsd:string, "UMLS_CUI:C0010691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9266"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cystinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_365, obo:DOID_557, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_9267 obo:IAO_0000115 "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream."^^xsd:string ; oboInOwl:hasDbXref "GARD:7837"^^xsd:string, "ICD10CM:E72.2"^^xsd:string, "ICD9CM:270.6"^^xsd:string, "MESH:D056806"^^xsd:string, "NCI:C84785"^^xsd:string, "SNOMEDCT_US_2021_03_01:36444000"^^xsd:string, "UMLS_CUI:C0154246"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia"@en, "disorder of urea cycle metabolism"@en, "urea cycle defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9267"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urea cycle disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9268 obo:IAO_0000115 "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues."^^xsd:string ; oboInOwl:hasDbXref "GARD:7219"^^xsd:string, "ICD10CM:E72.51"^^xsd:string, "MESH:D020158"^^xsd:string, "NCI:C84937"^^xsd:string, "OMIM:605899"^^xsd:string, "SNOMEDCT_US_2021_03_01:237939006"^^xsd:string, "UMLS_CUI:C0751748"^^xsd:string ; oboInOwl:hasExactSynonym "Non-ketotic hyperglycinemia"@en, "nonketotic hyperglycinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9268"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycine encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9269 obo:IAO_0000115 "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures."^^xsd:string ; oboInOwl:hasDbXref "GARD:3228"^^xsd:string, "ICD10CM:E71.0"^^xsd:string, "MESH:D008375"^^xsd:string, "NCI:C34806"^^xsd:string, "OMIM:246900"^^xsd:string, "OMIM:248600"^^xsd:string, "OMIM:615135"^^xsd:string, "ORDO:511"^^xsd:string, "SNOMEDCT_US_2021_03_01:27718001"^^xsd:string, "UMLS_CUI:C0024776"^^xsd:string ; oboInOwl:hasExactSynonym "Ketoacidaemia"@en, "branched chain ketoaciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "dihydrolipoamide dehydrogenase deficiency"^^xsd:string, "dihydrolipoamide dehydrogenase deficiency"@en ; oboInOwl:id "DOID:9269"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "maple syrup urine disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_927 oboInOwl:hasExactSynonym "metastatic neoplasm to the Brain"@en, "secondary malignant neoplasm of brain (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:927"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant neoplasm to brain"^^xsd:string ; owl:deprecated true . obo:DOID_9270 obo:IAO_0000115 "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050714"^^xsd:string ; oboInOwl:hasDbXref "GARD:5775"^^xsd:string, "ICD10CM:E70.29"^^xsd:string, "MESH:D000474"^^xsd:string, "NCI:C84546"^^xsd:string, "OMIM:203500"^^xsd:string, "ORDO:56"^^xsd:string, "SNOMEDCT_US_2021_03_01:24250001"^^xsd:string, "UMLS_CUI:C0002066"^^xsd:string ; oboInOwl:hasExactSynonym "Homogentisate 1,2-dioxygenase deficiency"@en, "alcaptonuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "deficiency of homogentisicase"@en ; oboInOwl:id "DOID:9270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alkaptonuria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 ; skos:exactMatch "MESH:D000474"^^xsd:string . obo:DOID_9271 obo:IAO_0000115 "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase."^^xsd:string ; oboInOwl:hasDbXref "GARD:8391"^^xsd:string, "ICD10CM:E72.4"^^xsd:string, "MESH:D020163"^^xsd:string, "NCI:C84957"^^xsd:string, "OMIM:311250"^^xsd:string, "SNOMEDCT_US_2021_03_01:80908008"^^xsd:string, "UMLS_CUI:C0268542"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of citrulline phosphorylase"@en, "ornithine transcarbamylase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ornithine carbamoyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9267 . obo:DOID_9273 obo:IAO_0000115 "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.23"^^xsd:string, "MESH:D020159"^^xsd:string, "NCI:C84639"^^xsd:string, "ORDO:187"^^xsd:string, "SNOMEDCT_US_2021_03_01:15489004"^^xsd:string, "UMLS_CUI:C0175683"^^xsd:string ; oboInOwl:hasExactSynonym "ASS deficiency"@en, "classic citrullinemia"^^xsd:string, "deficiency of citrulline-aspartate ligase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9273"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "citrullinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9267 . obo:DOID_9274 obo:IAO_0000115 "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:2828"^^xsd:string, "ICD10CM:E72.3"^^xsd:string, "MESH:D020167"^^xsd:string, "NCI:C123433"^^xsd:string, "OMIM:238700"^^xsd:string, "OMIM:238710"^^xsd:string, "ORDO:2203"^^xsd:string, "SNOMEDCT_US_2021_03_01:58558003"^^xsd:string, "UMLS_CUI:C0268553"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9274"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperlysinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9275 obo:IAO_0000115 "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.21"^^xsd:string, "MESH:D020176"^^xsd:string, "NCI:C98640"^^xsd:string, "SNOMEDCT_US_2021_03_01:190694001"^^xsd:string, "UMLS_CUI:C0268483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "tyrosinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9277 oboInOwl:hasDbXref "ICD9CM:334.2"^^xsd:string, "MESH:D013132"^^xsd:string, "SNOMEDCT_US_2021_03_01:192868000"^^xsd:string, "UMLS_CUI:C0033132"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9277"^^xsd:string ; a owl:Class ; rdfs:label "primary cerebellar degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_9278 obo:IAO_0000115 "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.21"^^xsd:string, "MESH:D020162"^^xsd:string, "NCI:C84568"^^xsd:string, "OMIM:207800"^^xsd:string, "SNOMEDCT_US_2021_03_01:23501004"^^xsd:string, "UMLS_CUI:C0268548"^^xsd:string ; oboInOwl:hasExactSynonym "Arginase deficiency"@en, "argininemia"@en, "deficiency of canavanase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperargininemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9267 . obo:DOID_9279 obo:IAO_0000115 "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020138"^^xsd:string, "NCI:C84770"^^xsd:string, "OMIM:603174"^^xsd:string, "SNOMEDCT_US_2021_03_01:419503008"^^xsd:string, "UMLS_CUI:C0598608"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9279"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperhomocysteinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_928 oboInOwl:hasExactSynonym "CNS metastases (tumor staging)"@en, "metastatic tumor to the CNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:928"^^xsd:string ; a owl:Class ; rdfs:label "obsolete CNS metastases"^^xsd:string ; owl:deprecated true . obo:DOID_9280 obo:IAO_0000115 "A urea cycle disorder that involves accumulation of ammonia in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:7269"^^xsd:string, "MESH:D020165"^^xsd:string, "NCI:C84612"^^xsd:string, "OMIM:237300"^^xsd:string, "SNOMEDCT_US_2021_03_01:765329008"^^xsd:string, "UMLS_CUI:C0751753"^^xsd:string ; oboInOwl:hasExactSynonym "CPS I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9280"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "carbamoyl phosphate synthetase I deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9267, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:DOID_9267 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_9281 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14455"^^xsd:string ; oboInOwl:hasDbXref "GARD:7383"^^xsd:string, "ICD9CM:270.1"^^xsd:string, "MESH:D010661"^^xsd:string, "MESH:D017042"^^xsd:string, "NCI:C81315"^^xsd:string, "OMIM:261600"^^xsd:string, "ORDO:716"^^xsd:string, "SNOMEDCT_US_2021_03_01:154735006"^^xsd:string, "SNOMEDCT_US_2021_03_01:297225000"^^xsd:string, "UMLS_CUI:C0031485"^^xsd:string, "UMLS_CUI:C0085547"^^xsd:string ; oboInOwl:hasExactSynonym "Folling's disease"@en, "PKU"@en, "maternal phenylketonuria"@en, "phenylalaninemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9281"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "phenylketonuria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_9282 obo:IAO_0000115 "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.05"^^xsd:string, "ICD9CM:365.04"^^xsd:string, "MESH:D009798"^^xsd:string, "NCI:C3285"^^xsd:string, "SNOMEDCT_US_2021_03_01:267721003"^^xsd:string, "UMLS_CUI:C0028840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9282"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ocular hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9283 obo:IAO_0000115 "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.00"^^xsd:string, "ICD9CM:365.00"^^xsd:string, "SNOMEDCT_US_2021_03_01:359633007"^^xsd:string, "UMLS_CUI:C0549470"^^xsd:string ; oboInOwl:hasExactSynonym "Preglaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9283"^^xsd:string ; a owl:Class ; rdfs:label "borderline glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_9286 obo:IAO_0000115 "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain."^^xsd:string ; oboInOwl:hasDbXref "GARD:10016"^^xsd:string, "ICD10CM:N48.3"^^xsd:string, "ICD9CM:607.3"^^xsd:string, "MESH:D011317"^^xsd:string, "NCI:C85022"^^xsd:string, "SNOMEDCT_US_2021_03_01:155930001"^^xsd:string, "UMLS_CUI:C0033117"^^xsd:string ; oboInOwl:hasExactSynonym "Mentulagra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9286"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "priapism"^^xsd:string ; rdfs:subClassOf obo:DOID_1529, obo:DOID_341, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] . obo:DOID_9287 oboInOwl:hasExactSynonym "vascular disorder of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete penile vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_929 oboInOwl:hasDbXref "ICD10CM:H05.82"^^xsd:string, "ICD9CM:376.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:57130002"^^xsd:string, "UMLS_CUI:C0155286"^^xsd:string ; oboInOwl:hasExactSynonym "Myopathy of extraocular muscles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:929"^^xsd:string ; a owl:Class ; rdfs:label "myopathy of extraocular muscle"^^xsd:string ; rdfs:subClassOf obo:DOID_423 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_423 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001601 ] ) ] . obo:DOID_9296 obo:IAO_0000115 "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9333"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003959"^^xsd:string, "ICD10CM:Q36"^^xsd:string, "ICD9CM:749.1"^^xsd:string, "ICD9CM:749.11"^^xsd:string, "MESH:D002971"^^xsd:string, "NCI:C87175"^^xsd:string, "SNOMEDCT_US_2021_03_01:156941008"^^xsd:string, "SNOMEDCT_US_2021_03_01:62696001"^^xsd:string, "UMLS_CUI:C0008924"^^xsd:string, "UMLS_CUI:C0158651"^^xsd:string ; oboInOwl:hasExactSynonym "Labium leporinum"@en, "cheiloschisis"@en, "cleft lip, unilateral, complete"@en, "complete unilateral cleft lip"@en, "hare lip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9296"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cleft lip"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_9297, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001833 ] . obo:DOID_9297 obo:IAO_0000115 "A mouth disease located_in the lip."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.0"^^xsd:string, "ICD9CM:528.5"^^xsd:string, "MESH:D008047"^^xsd:string, "NCI:C26818"^^xsd:string, "SNOMEDCT_US_2021_03_01:90678009"^^xsd:string, "UMLS_CUI:C0023760"^^xsd:string ; oboInOwl:hasExactSynonym "disease of lips"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lip disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001833 ] ) ] . obo:DOID_9299 oboInOwl:hasAlternativeId "DOID:14536"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4569"^^xsd:string, "NCI:C5349"^^xsd:string, "SNOMEDCT_US_2021_03_01:126732009"^^xsd:string, "SNOMEDCT_US_2021_03_01:363437005"^^xsd:string, "UMLS_CUI:C0346611"^^xsd:string, "UMLS_CUI:C1290402"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Myocardial tumor"@en, "malignant neoplasm of myocardium"@en, "tumor of Myocardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9299"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myocardium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002349 ] ) ] . obo:DOID_93 obo:IAO_0000115 "A communication disorder that involves the processing of linguistic information."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.9"^^xsd:string, "MESH:D007806"^^xsd:string, "NCI:C97155"^^xsd:string, "SNOMEDCT_US_2021_03_01:62305002"^^xsd:string, "UMLS_CUI:C0023015"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:93"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "language disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2033 . obo:DOID_930 obo:IAO_0000115 "An adnexa disease that is located_in the eye socket."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.9"^^xsd:string, "ICD9CM:376.9"^^xsd:string, "MESH:D009916"^^xsd:string, "SNOMEDCT_US_2021_03_01:267746003"^^xsd:string, "UMLS_CUI:C0029182"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:930"^^xsd:string ; a owl:Class ; rdfs:label "orbital disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001, [ a owl:Restriction ; owl:onProperty obo:RO_0002220 ; owl:someValuesFrom obo:UBERON_0000970 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004088 ] ) ] . obo:DOID_9300 oboInOwl:hasDbXref "NCI:C5359"^^xsd:string, "UMLS_CUI:C1096349"^^xsd:string ; oboInOwl:hasExactSynonym "Neurofibroma of Heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9300"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurofibroma of the heart"^^xsd:string ; rdfs:subClassOf obo:DOID_962 . obo:DOID_9305 obo:IAO_0000115 "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.85"^^xsd:string, "ICD9CM:017.7"^^xsd:string, "MESH:D014400"^^xsd:string, "SNOMEDCT_US_2021_03_01:28399005"^^xsd:string, "UMLS_CUI:C0041331"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9305"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "splenic tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050599, obo:DOID_2529, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] . obo:DOID_9306 oboInOwl:hasDbXref "ICD10CM:H50.6"^^xsd:string, "ICD9CM:378.6"^^xsd:string, "MESH:D013285"^^xsd:string, "SNOMEDCT_US_2021_03_01:5371001"^^xsd:string, "UMLS_CUI:C0152223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9306"^^xsd:string ; a owl:Class ; rdfs:label "mechanical strabismus"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9307 oboInOwl:hasDbXref "ICD10CM:K62.3"^^xsd:string, "ICD9CM:569.1"^^xsd:string, "MESH:D012005"^^xsd:string, "NCI:C34973"^^xsd:string, "SNOMEDCT_US_2021_03_01:197214005"^^xsd:string, "UMLS_CUI:C0034888"^^xsd:string ; oboInOwl:hasExactSynonym "Procidentia, rectum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9307"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rectal prolapse"^^xsd:string ; rdfs:subClassOf obo:DOID_1285 . obo:DOID_931 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008989"^^xsd:string, "UMLS_CUI:C0026414"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:931"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "monieziasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_9310 oboInOwl:hasDbXref "NCI:C4413"^^xsd:string, "SNOMEDCT_US_2021_03_01:126670003"^^xsd:string, "UMLS_CUI:C0345630"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of nasal cavity"@en, "tumor of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_2163 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_9312 obo:IAO_0000115 "A ethmoid sinusitis which lasts for 12 weeks or more."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.2"^^xsd:string, "ICD9CM:473.2"^^xsd:string, "NCI:C34472"^^xsd:string, "SNOMEDCT_US_2021_03_01:155528009"^^xsd:string, "UMLS_CUI:C0008681"^^xsd:string ; oboInOwl:hasExactSynonym "chronic ethmoid sinusitis"@en, "chronic ethmoidal sinusitis"@en, "ethmoidal sinusitis - chronic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic ethmoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_9507 . obo:DOID_9314 oboInOwl:hasExactSynonym "Glaucoma associated with anomalies of iris (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9314"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with anomalies of iris"^^xsd:string ; owl:deprecated true . obo:DOID_9317 obo:IAO_0000115 "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I89.1"^^xsd:string, "ICD9CM:457.2"^^xsd:string, "MESH:D008205"^^xsd:string, "NCI:C34790"^^xsd:string, "SNOMEDCT_US_2021_03_01:1415005"^^xsd:string, "UMLS_CUI:C0024225"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9317"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "lymphangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_9321 oboInOwl:hasAlternativeId "DOID:10984"^^xsd:string, "DOID:10985"^^xsd:string, "DOID:12831"^^xsd:string ; oboInOwl:hasExactSynonym "Displacement of lumbar intervertebral disc without myelopathy"@en, "Displacement of lumbar intervertebral disc without myelopathy (disorder)"@en, "Displacement of thoracic intervertebral disc without myelopathy (disorder)"@en, "displacement of the lumbar or lumbosacral intervertebral disc without myelopathy"@en, "displacement of thoracic intervertebral disc without myelopathy"@en, "displacement of thoracic or lumbar intervertebral disc without myelopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9321"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intervertebral disc disorder"^^xsd:string ; owl:deprecated true . obo:DOID_933 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10077"^^xsd:string ; oboInOwl:hasExactSynonym "Cestode infection (disorder)"@en, "Cestode infection NOS (disorder)"@en, "Cestode infection, unspecified (disorder)"@en, "Cestode infestation"@en, "Infection by Taenia (disorder)"@en, "Taenia infestation"@en, "Taeniasis, unspecified"@en, "Taeniasis, unspecified (disorder)"@en, "Tapeworm infection NOS"@en, "Unspecified teniasis (disorder)"@en, "disease due to Cestoda"@en, "teniasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:933"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cestoda infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9335 oboInOwl:hasAlternativeId "DOID:10750"^^xsd:string, "DOID:10751"^^xsd:string, "DOID:9482"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.42"^^xsd:string, "ICD10CM:H53.45"^^xsd:string, "ICD9CM:368.42"^^xsd:string, "ICD9CM:368.44"^^xsd:string, "SNOMEDCT_US_2021_03_01:33970004"^^xsd:string, "UMLS_CUI:C0029657"^^xsd:string, "UMLS_CUI:C0152192"^^xsd:string ; oboInOwl:hasExactSynonym "Blind spot area scotoma"@en, "Enlarged angioscotoma"@en, "Enlarged blind spot"@en, "Enlarged paracaecal scotoma"@en, "Generalized visual field contraction or constriction"@en, "Scotoma of blind spot area"@en, "Sector or arcuate visual field defects"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9335"^^xsd:string ; a owl:Class ; rdfs:label "scotoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9336 oboInOwl:hasDbXref "ICD9CM:302.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:154907002"^^xsd:string, "UMLS_CUI:C0152186"^^xsd:string ; oboInOwl:hasExactSynonym "Zoophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9336"^^xsd:string ; a owl:Class ; rdfs:label "bestiality"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_9339 oboInOwl:hasDbXref "ICD10CM:N36.5"^^xsd:string, "ICD9CM:599.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:74944002"^^xsd:string, "UMLS_CUI:C0156286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9339"^^xsd:string ; a owl:Class ; rdfs:label "urethral false passage"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_934 obo:IAO_0000115 "A disease by infectious agent that results in infection, has_material_basis_in Viruses."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1329"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A94"^^xsd:string, "ICD10CM:B34.9"^^xsd:string, "ICD9CM:060-066.99"^^xsd:string, "MESH:D001102"^^xsd:string, "MESH:D014777"^^xsd:string, "NCI:C3439"^^xsd:string, "NCI:C34396"^^xsd:string, "SNOMEDCT_US_2021_03_01:34014006"^^xsd:string, "SNOMEDCT_US_2021_03_01:40610006"^^xsd:string, "UMLS_CUI:C0003723"^^xsd:string, "UMLS_CUI:C0042769"^^xsd:string ; oboInOwl:hasExactSynonym "Viral Infection"@en, "Viral disease"@en, "virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:934"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] ) ] . obo:DOID_9340 oboInOwl:hasAlternativeId "DOID:12562"^^xsd:string, "DOID:12833"^^xsd:string ; oboInOwl:hasExactSynonym "Complete unilateral cleft palate with cleft lip (disorder)"@en, "Unilateral complete cleft palate with cleft lip"@en, "Unilateral complete cleft palate with cleft lip (disorder)"@en, "Unilateral incomplete cleft palate with cleft lip"@en, "Unilateral incomplete cleft palate with cleft lip (disorder)"@en, "cleft palate with cleft lip, unilateral, complete"@en, "cleft palate with cleft lip, unilateral, incomplete"@en, "incomplete unilateral cleft palate with cleft lip (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cheilopalatoschisis"^^xsd:string ; owl:deprecated true . obo:DOID_9341 oboInOwl:hasDbXref "ICD10CM:N36.1"^^xsd:string, "ICD9CM:599.2"^^xsd:string, "NCI:C39861"^^xsd:string, "SNOMEDCT_US_2021_03_01:90531003"^^xsd:string, "UMLS_CUI:C0152443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9341"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_9346 oboInOwl:hasDbXref "ICD9CM:625.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:156027002"^^xsd:string, "UMLS_CUI:C0152078"^^xsd:string ; oboInOwl:hasExactSynonym "Congestion-fibrosis syndrome"@en, "Taylor syndrome"@en, "pelvic congestion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9346"^^xsd:string ; a owl:Class ; rdfs:label "Taylor's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_9348 oboInOwl:hasDbXref "ICD10CM:I77.71"^^xsd:string, "ICD9CM:443.21"^^xsd:string, "NCI:C125662"^^xsd:string, "SNOMEDCT_US_2021_03_01:230729006"^^xsd:string, "UMLS_CUI:C0338585"^^xsd:string ; oboInOwl:hasExactSynonym "Carotid artery dissection"@en, "Dissection of carotid artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9348"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carotid artery dissection"^^xsd:string ; rdfs:subClassOf obo:DOID_3407 . obo:DOID_9351 obo:IAO_0000115 "A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E08-E13"^^xsd:string, "ICD9CM:250"^^xsd:string, "MESH:D003920"^^xsd:string, "NCI:C2985"^^xsd:string, "SNOMEDCT_US_2021_03_01:267467004"^^xsd:string, "UMLS_CUI:C0011849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_4194, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000818 ] . obo:DOID_9352 obo:IAO_0000115 "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001360"^^xsd:string, "ICD10CM:E11"^^xsd:string, "KEGG:04930"^^xsd:string, "MESH:D003924"^^xsd:string, "NCI:C26747"^^xsd:string, "OMIM:125853"^^xsd:string, "OMIM:601283"^^xsd:string, "OMIM:601407"^^xsd:string, "OMIM:603694"^^xsd:string, "OMIM:608036"^^xsd:string, "SNOMEDCT_US_2021_03_01:44054006"^^xsd:string, "UMLS_CUI:C0011860"^^xsd:string ; oboInOwl:hasExactSynonym "NIDDM"@en, "insulin resistance"^^xsd:string, "non-insulin-dependent diabetes mellitus"@en, "type 2 diabetes"@en, "type II diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9352"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "type 2 diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_9351 . obo:DOID_9353 oboInOwl:hasExactSynonym "Congen. disloc. hip"@en, "Congenital dislocation of hip"@en, "Congenital dislocation of hip NOS"@en, "Congenital dislocation of hip NOS (disorder)"@en, "Congenital dysplasia of the hip"@en, "Developmental dislocation of hip"@en, "Developmental dysplasia of the hip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9353"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital hip dislocation"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_9357 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9357"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperemesis gravidarum"^^xsd:string ; owl:deprecated true . obo:DOID_9358 oboInOwl:hasDbXref "ICD9CM:726.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:202870007"^^xsd:string, "UMLS_CUI:C0158316"^^xsd:string ; oboInOwl:hasExactSynonym "Fibular collateral ligament bursitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9358"^^xsd:string ; a owl:Class ; rdfs:label "fibular collateral ligament bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204 . obo:DOID_9359 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9359"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enthesopathy of knee"^^xsd:string ; owl:deprecated true . obo:DOID_936 obo:IAO_0000115 "A central nervous system disease that is located_in the brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8510"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G93.40"^^xsd:string, "ICD10CM:G93.9"^^xsd:string, "ICD9CM:348.30"^^xsd:string, "ICD9CM:348.9"^^xsd:string, "MESH:D001927"^^xsd:string, "NCI:C26920"^^xsd:string, "NCI:C96413"^^xsd:string, "SNOMEDCT_US_2021_03_01:81308009"^^xsd:string, "UMLS_CUI:C0006111"^^xsd:string, "UMLS_CUI:C0085584"^^xsd:string ; oboInOwl:hasExactSynonym "encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "brain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_9360 obo:IAO_0000115 "A chronic asthma that is triggered by factors not attributable to allergies."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9361"^^xsd:string, "DOID:9363"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J45"^^xsd:string, "ICD9CM:493.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:266397004"^^xsd:string, "UMLS_CUI:C0155880"^^xsd:string ; oboInOwl:hasExactSynonym "non-atopic asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9360"^^xsd:string ; a owl:Class ; rdfs:label "intrinsic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000412 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000601 ] . obo:DOID_9362 obo:IAO_0000115 "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:493.91"^^xsd:string, "MESH:D013224"^^xsd:string, "NCI:C122577"^^xsd:string, "SNOMEDCT_US_2021_03_01:36979006"^^xsd:string, "UMLS_CUI:C0038218"^^xsd:string ; oboInOwl:hasExactSynonym "Asthma with status asthmaticus"@en, "Severe asthma attack"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9362"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "status asthmaticus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080810 . obo:DOID_9365 oboInOwl:hasDbXref "ICD10CM:N49.0"^^xsd:string, "ICD9CM:608.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:155935006"^^xsd:string, "UMLS_CUI:C0042588"^^xsd:string ; oboInOwl:hasExactSynonym "Seminal vesiculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9365"^^xsd:string ; a owl:Class ; rdfs:label "vesiculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_9368 oboInOwl:hasAlternativeId "DOID:9367"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.2"^^xsd:string, "ICD9CM:370.40"^^xsd:string, "MESH:D007637"^^xsd:string, "NCI:C34744"^^xsd:string, "SNOMEDCT_US_2021_03_01:155154005"^^xsd:string, "UMLS_CUI:C0022573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9368"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "keratoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9369 oboInOwl:hasDbXref "ICD10CM:H05.11"^^xsd:string, "MESH:D016727"^^xsd:string, "SNOMEDCT_US_2021_03_01:72789009"^^xsd:string, "UMLS_CUI:C0085270"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudotumor of orbit"@en, "orbital myositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9369"^^xsd:string ; a owl:Class ; rdfs:label "orbital plasma cell granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1397 . obo:DOID_937 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:937"^^xsd:string ; a owl:Class ; rdfs:label "obsolete DNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9370 obo:IAO_0000115 "An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.20"^^xsd:string, "ICD9CM:376.30"^^xsd:string, "MESH:D005094"^^xsd:string, "NCI:C87114"^^xsd:string, "SNOMEDCT_US_2021_03_01:155200004"^^xsd:string, "UMLS_CUI:C0015300"^^xsd:string ; oboInOwl:hasExactSynonym "proptosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9370"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9373 obo:IAO_0000115 "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9373"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postural kyphosis"^^xsd:string ; owl:deprecated true . obo:DOID_9375 obo:IAO_0000115 "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface."^^xsd:string ; oboInOwl:hasDbXref "GARD:6791"^^xsd:string, "ICD10CM:H20.81"^^xsd:string, "ICD9CM:364.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:11226001"^^xsd:string, "UMLS_CUI:C0016782"^^xsd:string ; oboInOwl:hasExactSynonym "Fuch's Heterochromic iridocyclitis"@en, "Fuchs uveitis syndrome"@en, "Fuchs' heterochromic cyclitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9375"^^xsd:string ; a owl:Class ; rdfs:label "Fuchs' heterochromic uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_9377 oboInOwl:hasExactSynonym "Pigmentary iris degeneration"@en, "Pigmentary iris degeneration (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9377"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pigment dispersion syndrome of iris"^^xsd:string ; owl:deprecated true . obo:DOID_9378 oboInOwl:hasDbXref "GARD:10737"^^xsd:string, "ICD9CM:364.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:29538005"^^xsd:string, "UMLS_CUI:C0152138"^^xsd:string ; oboInOwl:hasExactSynonym "Posner-Schlossman syndrome"@en, "Terrien-Viel syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9378"^^xsd:string ; a owl:Class ; rdfs:label "glaucomatocyclitic crisis"^^xsd:string ; rdfs:subClassOf obo:DOID_9383 . obo:DOID_9379 oboInOwl:hasExactSynonym "Glaucoma associated with ocular inflammations"@en, "Glaucoma associated with ocular inflammations (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9379"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma with ocular inflammation"^^xsd:string ; owl:deprecated true . obo:DOID_9383 oboInOwl:hasAlternativeId "DOID:9376"^^xsd:string, "DOID:9380"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H20.01"^^xsd:string, "ICD9CM:364.01"^^xsd:string, "ICD9CM:364.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:193485000"^^xsd:string, "SNOMEDCT_US_2021_03_01:193496008"^^xsd:string, "UMLS_CUI:C0007832"^^xsd:string, "UMLS_CUI:C0154909"^^xsd:string ; oboInOwl:hasExactSynonym "primary iridocyclitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9383"^^xsd:string ; a owl:Class ; rdfs:label "iridocyclitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1407 ; skos:exactMatch "MESH:D015863"^^xsd:string . obo:DOID_9384 oboInOwl:hasDbXref "ICD10CM:A54.32"^^xsd:string, "ICD9CM:098.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:186922002"^^xsd:string, "UMLS_CUI:C0153212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9384"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal iridocyclitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9383, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_9385 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9385"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal eye infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9388 oboInOwl:hasDbXref "ICD10CM:H20.2"^^xsd:string, "ICD9CM:364.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:70461003"^^xsd:string, "UMLS_CUI:C0339320"^^xsd:string ; oboInOwl:hasExactSynonym "Lens-induced iridocyclitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9388"^^xsd:string ; a owl:Class ; rdfs:label "lens-induced iridocyclitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9383 . obo:DOID_9389 oboInOwl:hasDbXref "ICD10CM:H20.03"^^xsd:string, "ICD9CM:364.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:193487008"^^xsd:string, "UMLS_CUI:C0154911"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious secondary iridocyclitis"@en, "secondary infected iridocyclitis"@en, "secondary iridocyclitis, infectious"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9389"^^xsd:string ; a owl:Class ; rdfs:label "infectious anterior uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9383 . obo:DOID_9392 obo:IAO_0000115 "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050149"^^xsd:string, "DOID:9391"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J04.1"^^xsd:string, "ICD9CM:464.1"^^xsd:string, "MESH:D014136"^^xsd:string, "NCI:C78643"^^xsd:string, "SNOMEDCT_US_2021_03_01:155507000"^^xsd:string, "SNOMEDCT_US_2021_03_01:62994001"^^xsd:string, "UMLS_CUI:C0040584"^^xsd:string, "UMLS_CUI:C0149513"^^xsd:string ; oboInOwl:hasExactSynonym "acute tracheitis"@en, "chronic tracheitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9392"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] ; skos:exactMatch "MESH:D014136"^^xsd:string . obo:DOID_9395 obo:IAO_0000115 "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J05.0"^^xsd:string, "ICD9CM:464.4"^^xsd:string, "MESH:D003440"^^xsd:string, "NCI:C26735"^^xsd:string, "SNOMEDCT_US_2021_03_01:71186008"^^xsd:string, "UMLS_CUI:C0010380"^^xsd:string ; oboInOwl:hasExactSynonym "Croup syndrome"@en, "Laryngotracheobronchitis"@en, "acute Obstructive Laryngitis"@en, "acute laryngotracheobronchitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9395"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "croup"^^xsd:string ; rdfs:subClassOf obo:DOID_1579, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_9396 obo:IAO_0000115 "A laryngitis which lasts less than a few days."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12334"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J04.0"^^xsd:string, "ICD9CM:464.0"^^xsd:string, "ICD9CM:464.01"^^xsd:string, "NCI:C26688"^^xsd:string, "SNOMEDCT_US_2021_03_01:155506009"^^xsd:string, "SNOMEDCT_US_2021_03_01:408669002"^^xsd:string, "UMLS_CUI:C0001327"^^xsd:string, "UMLS_CUI:C0949123"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9396"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute laryngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3437 . obo:DOID_9398 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9397"^^xsd:string, "DOID:9479"^^xsd:string, "DOID:9481"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J05.1"^^xsd:string, "ICD10CM:J05.10"^^xsd:string, "ICD9CM:464.3"^^xsd:string, "MESH:D004826"^^xsd:string, "NCI:C116007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29608009"^^xsd:string, "SNOMEDCT_US_2021_03_01:80384002"^^xsd:string, "UMLS_CUI:C0014541"^^xsd:string, "UMLS_CUI:C0155814"^^xsd:string ; oboInOwl:hasExactSynonym "acute epiglottitis"@en, "acute epiglottitis and supraglottitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9398"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epiglottitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_9401 oboInOwl:hasDbXref "ICD10CM:N45.3"^^xsd:string, "ICD9CM:604"^^xsd:string, "SNOMEDCT_US_2021_03_01:24084007"^^xsd:string, "UMLS_CUI:C0149881"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9401"^^xsd:string ; a owl:Class ; rdfs:label "epididymo-orchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9402 . obo:DOID_9402 oboInOwl:hasDbXref "ICD10CM:N45.1"^^xsd:string, "MESH:D004823"^^xsd:string, "SNOMEDCT_US_2021_03_01:155914009"^^xsd:string, "UMLS_CUI:C0014534"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9402"^^xsd:string ; a owl:Class ; rdfs:label "epididymitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080373 . obo:DOID_9403 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9403"^^xsd:string ; a owl:Class ; rdfs:label "obsolete isolated explosive disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9405 oboInOwl:hasExactSynonym "Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]"@en, "Lorain - Levi dwarfism"@en, "hypopituitary dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9405"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pituitary dwarfism"^^xsd:string ; owl:deprecated true . obo:DOID_9406 obo:IAO_0000115 "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland."^^xsd:string ; oboInOwl:hasDbXref "GARD:2917"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "MESH:D007018"^^xsd:string, "NCI:C62591"^^xsd:string, "OMIM:221750"^^xsd:string, "OMIM:262600"^^xsd:string, "OMIM:262700"^^xsd:string, "OMIM:613038"^^xsd:string, "OMIM:613986"^^xsd:string, "ORDO:95494"^^xsd:string, "SNOMEDCT_US_2021_03_01:74728003"^^xsd:string, "UMLS_CUI:C0020635"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary insufficiency"@en, "pituitary hormone deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Pituitary hypofunction"@en ; oboInOwl:id "DOID:9406"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypopituitarism"^^xsd:string ; rdfs:subClassOf obo:DOID_53 . obo:DOID_9407 oboInOwl:hasDbXref "ICD9CM:410.60"^^xsd:string, "UMLS_CUI:C0155652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9407"^^xsd:string ; a owl:Class ; rdfs:label "strictly posterior acute myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_9408 oboInOwl:hasDbXref "ICD10CM:I21"^^xsd:string, "ICD9CM:410"^^xsd:string, "NCI:C35204"^^xsd:string, "SNOMEDCT_US_2021_03_01:155304006"^^xsd:string, "UMLS_CUI:C0155626"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9408"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_9409 oboInOwl:hasDbXref "ICD10CM:E23.2"^^xsd:string, "ICD9CM:253.5"^^xsd:string, "MESH:D003919"^^xsd:string, "NCI:C43263"^^xsd:string, "SNOMEDCT_US_2021_03_01:190484000"^^xsd:string, "UMLS_CUI:C0011848"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9409"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetes insipidus"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_9410 obo:IAO_0000115 "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "ICD9CM:253.2"^^xsd:string, "MESH:C580003"^^xsd:string, "NCI:C110940"^^xsd:string, "OMIM:PS613038"^^xsd:string, "ORDO:90695"^^xsd:string, "SNOMEDCT_US_2021_03_01:154700009"^^xsd:string, "UMLS_CUI:C0242343"^^xsd:string ; oboInOwl:hasExactSynonym "Panhypopituitarism"@en, "Simmond's disease"@en, "Simmonds' disease"@en, "combined pituitary hormone deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9410"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "panhypopituitarism"^^xsd:string ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_9411 oboInOwl:hasExactSynonym "Gonococcal endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9411"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_9413 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9413"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_9414 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9414"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_9415 obo:IAO_0000115 "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9416"^^xsd:string, "DOID:9417"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J45"^^xsd:string, "ICD9CM:493.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:195968006"^^xsd:string, "UMLS_CUI:C0155877"^^xsd:string ; oboInOwl:hasExactSynonym "extrinsic asthma with acute exacerbation"@en, "extrinsic asthma with status asthmaticus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "atopic asthma"@en ; oboInOwl:id "DOID:9415"^^xsd:string ; a owl:Class ; rdfs:label "allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_0080811, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000604 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] . obo:DOID_9422 oboInOwl:hasExactSynonym "abscess of eyelid (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9422"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abscess of eyelid"^^xsd:string ; owl:deprecated true . obo:DOID_9423 obo:IAO_0000115 "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13824"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H01.0"^^xsd:string, "ICD9CM:373.0"^^xsd:string, "ICD9CM:373.4"^^xsd:string, "MESH:D001762"^^xsd:string, "NCI:C112183"^^xsd:string, "SNOMEDCT_US_2021_03_01:193907001"^^xsd:string, "SNOMEDCT_US_2021_03_01:193920003"^^xsd:string, "UMLS_CUI:C0005741"^^xsd:string, "UMLS_CUI:C0155181"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9423"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blepharitis"^^xsd:string ; rdfs:subClassOf obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9426 obo:IAO_0000115 "A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9426"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous bronchiectasis"^^xsd:string ; owl:deprecated true . obo:DOID_9427 oboInOwl:hasDbXref "ICD10CM:I67.4"^^xsd:string, "ICD9CM:437.2"^^xsd:string, "MESH:D020343"^^xsd:string, "NCI:C3503"^^xsd:string, "SNOMEDCT_US_2021_03_01:155408008"^^xsd:string, "UMLS_CUI:C0151620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertensive encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9428 . obo:DOID_9428 obo:IAO_0000115 "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019586"^^xsd:string, "NCI:C84791"^^xsd:string, "SNOMEDCT_US_2021_03_01:155052007"^^xsd:string, "UMLS_CUI:C0151740"^^xsd:string ; oboInOwl:hasExactSynonym "Raised intracranial pressure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9428"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_9432 oboInOwl:hasDbXref "GARD:7548"^^xsd:string, "ICD9CM:271.4"^^xsd:string, "MESH:D006030"^^xsd:string, "OMIM:233100"^^xsd:string, "SNOMEDCT_US_2021_03_01:190759004"^^xsd:string, "UMLS_CUI:C0017980"^^xsd:string ; oboInOwl:hasExactSynonym "renal diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9432"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "renal glycosuria"^^xsd:string ; rdfs:subClassOf obo:DOID_447 . obo:DOID_9439 oboInOwl:hasDbXref "NCI:C35335"^^xsd:string, "SNOMEDCT_US_2021_03_01:71912000"^^xsd:string, "UMLS_CUI:C0267918"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9439"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9446 . obo:DOID_9442 obo:IAO_0000115 "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40215"^^xsd:string, "UMLS_CUI:C1516427"^^xsd:string ; oboInOwl:hasExactSynonym "cervical Muellerian papilloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9442"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical Mullerian papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060110 . obo:DOID_9443 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9443"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervix blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_9445 obo:IAO_0000115 "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6342"^^xsd:string, "UMLS_CUI:C1336900"^^xsd:string ; oboInOwl:hasExactSynonym "squamous papilloma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervix squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060110, obo:DOID_2615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_9446 obo:IAO_0000115 "A bile duct disease that is an inflammation of the bile duct."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K83.0"^^xsd:string, "ICD9CM:576.1"^^xsd:string, "MESH:D002761"^^xsd:string, "NCI:C26718"^^xsd:string, "SNOMEDCT_US_2021_03_01:155831003"^^xsd:string, "UMLS_CUI:C0008311"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9446"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 . obo:DOID_9450 oboInOwl:hasAlternativeId "DOID:11281"^^xsd:string, "DOID:12523"^^xsd:string, "DOID:12963"^^xsd:string, "DOID:13600"^^xsd:string, "DOID:1437"^^xsd:string, "DOID:1438"^^xsd:string, "DOID:1879"^^xsd:string, "DOID:1880"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9450"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious disease of the breast and nipple associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_9452 obo:IAO_0000115 "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9451"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K70.0"^^xsd:string, "ICD9CM:571.0"^^xsd:string, "MESH:D005234"^^xsd:string, "MESH:D005235"^^xsd:string, "OMIM:228100"^^xsd:string, "SNOMEDCT_US_2021_03_01:371330000"^^xsd:string, "SNOMEDCT_US_2021_03_01:50325005"^^xsd:string, "UMLS_CUI:C0015695"^^xsd:string, "UMLS_CUI:C0015696"^^xsd:string ; oboInOwl:hasExactSynonym "Fatty change of liver"@en, "Steatosis of liver"@en, "alcoholic fatty liver"@en, "hepatic lipidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9452"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "fatty liver disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_9455 obo:IAO_0000115 "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10583"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.6"^^xsd:string, "ICD9CM:272.7"^^xsd:string, "ICD9CM:272.8"^^xsd:string, "MESH:D008064"^^xsd:string, "SNOMEDCT_US_2021_03_01:11455007"^^xsd:string, "SNOMEDCT_US_2021_03_01:154744007"^^xsd:string, "UMLS_CUI:C0023794"^^xsd:string, "UMLS_CUI:C0029591"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoid storage diseas"@en, "Lipoidosis"@en, "inborn lipid storage disorder"@en, "lipoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9455"^^xsd:string ; a owl:Class ; rdfs:label "lipid storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_9459 oboInOwl:hasDbXref "ICD9CM:182.1"^^xsd:string, "UMLS_CUI:C0153575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9459"^^xsd:string ; a owl:Class ; rdfs:label "isthmus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_9460 . obo:DOID_946 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13792"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004030"^^xsd:string, "UMLS_CUI:C0012147"^^xsd:string ; oboInOwl:hasExactSynonym "intestinal trichomoniasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:946"^^xsd:string ; a owl:Class ; rdfs:label "dientamoebiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_9460 obo:IAO_0000115 "A uterine cancer that is located_in the uterine corpus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C54"^^xsd:string, "ICD9CM:182"^^xsd:string, "NCI:C3556"^^xsd:string, "SNOMEDCT_US_2021_03_01:93718007"^^xsd:string, "UMLS_CUI:C0153574"^^xsd:string ; oboInOwl:hasExactSynonym "corpus uteri cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9460"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "uterine corpus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_363 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0009853 ] ) ] . obo:DOID_9461 oboInOwl:hasDbXref "ICD10CM:H16.21"^^xsd:string, "ICD9CM:370.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:14366000"^^xsd:string, "UMLS_CUI:C0339295"^^xsd:string ; oboInOwl:hasExactSynonym "Exposure keratoconjunctivitis"@en, "lagophthalmic keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9461"^^xsd:string ; a owl:Class ; rdfs:label "exposure keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_9462 obo:IAO_0000115 "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H60.4"^^xsd:string, "ICD9CM:380.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:35247001"^^xsd:string, "UMLS_CUI:C0155398"^^xsd:string ; oboInOwl:hasExactSynonym "external canal cholesteatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9462"^^xsd:string ; a owl:Class ; rdfs:label "cholesteatoma of external ear"^^xsd:string ; rdfs:subClassOf obo:DOID_379, obo:DOID_869 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_869 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001691 ] ) ] . obo:DOID_9463 obo:IAO_0000115 "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9785"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.1"^^xsd:string, "NCI:C3299"^^xsd:string, "SNOMEDCT_US_2021_03_01:194198006"^^xsd:string, "UMLS_CUI:C0021355"^^xsd:string ; oboInOwl:hasExactSynonym "swimmer's ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "otitis externa"^^xsd:string ; rdfs:subClassOf obo:DOID_379 . obo:DOID_9467 obo:IAO_0000115 "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7160"^^xsd:string, "ICD10CM:Q87.2"^^xsd:string, "MEDDRA:10063431"^^xsd:string, "MESH:D009261"^^xsd:string, "NCI:C75120"^^xsd:string, "OMIM:161200"^^xsd:string, "ORDO:2614"^^xsd:string, "SNOMEDCT_US_2021_03_01:22199006"^^xsd:string, "UMLS_CUI:C0027341"^^xsd:string ; oboInOwl:hasExactSynonym "Fong disease"@en, "Turner-Kiser syndrome"@en, "hereditary onychoostedysplasia"@en, "iliac horn syndrome"@en, "nail patella syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9467"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nail-patella syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0001705 obo:UBERON_0002446 ) ] ] . obo:DOID_9468 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9468"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_9470 obo:IAO_0000115 "A meningitis that has_material_basis_in a bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:5881"^^xsd:string, "ICD10CM:G00"^^xsd:string, "ICD9CM:320"^^xsd:string, "MESH:D016920"^^xsd:string, "NCI:C118297"^^xsd:string, "SNOMEDCT_US_2021_03_01:267680008"^^xsd:string, "UMLS_CUI:C0085437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9470"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_9471 obo:IAO_0000115 "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9712"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G03"^^xsd:string, "ICD9CM:322.9"^^xsd:string, "MESH:D008581"^^xsd:string, "NCI:C26828"^^xsd:string, "SNOMEDCT_US_2021_03_01:154983000"^^xsd:string, "UMLS_CUI:C0025289"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9471"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9473 oboInOwl:hasDbXref "ICD9CM:355.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:193154003"^^xsd:string, "UMLS_CUI:C0154747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9473"^^xsd:string ; a owl:Class ; rdfs:label "mononeuritis of lower limb"^^xsd:string ; rdfs:subClassOf obo:DOID_1802, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002101 ] . obo:DOID_9476 oboInOwl:hasDbXref "GARD:7630"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "MESH:D007018"^^xsd:string, "NCI:C35300"^^xsd:string, "SNOMEDCT_US_2021_03_01:15045007"^^xsd:string, "UMLS_CUI:C0242342"^^xsd:string ; oboInOwl:hasExactSynonym "Postpartum Hypopituitarism"@en, "Sheehan's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Sheehan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_9477 obo:IAO_0000115 "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I26"^^xsd:string, "MESH:D011655"^^xsd:string, "NCI:C50713"^^xsd:string, "SNOMEDCT_US_2021_03_01:194882001"^^xsd:string, "UMLS_CUI:C0034065"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary artery embolism"@en, "pulmonary embolus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "pulmonary embolism"^^xsd:string ; rdfs:subClassOf obo:DOID_60001 . obo:DOID_9478 obo:IAO_0000115 "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F53.0"^^xsd:string, "MESH:D019052"^^xsd:string, "NCI:C92852"^^xsd:string, "SNOMEDCT_US_2021_03_01:58703003"^^xsd:string, "UMLS_CUI:C0221074"^^xsd:string ; oboInOwl:hasExactSynonym "Maternity blues"@en, "postnatal depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9478"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "postpartum depression"^^xsd:string ; rdfs:subClassOf obo:DOID_1595 . obo:DOID_9483 oboInOwl:hasDbXref "ICD10CM:H01.01"^^xsd:string, "ICD9CM:373.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:91662004"^^xsd:string, "UMLS_CUI:C0155173"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9483"^^xsd:string ; a owl:Class ; rdfs:label "ulcerative blepharitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_9487 obo:IAO_0000115 "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q43.0"^^xsd:string, "ICD9CM:751.0"^^xsd:string, "MESH:D008467"^^xsd:string, "NCI:C12264"^^xsd:string, "OMIM:155140"^^xsd:string, "SNOMEDCT_US_2021_03_01:37373007"^^xsd:string, "UMLS_CUI:C0025037"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel Diverticulum"@en, "Persistent vitelline duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9487"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Meckel's diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002116 ] . obo:DOID_949 oboInOwl:hasDbXref "ICD10CM:H04.02"^^xsd:string, "ICD9CM:375.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:4760008"^^xsd:string, "UMLS_CUI:C0155224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:949"^^xsd:string ; a owl:Class ; rdfs:label "chronic dacryoadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_950 . obo:DOID_9496 oboInOwl:hasDbXref "ICD9CM:386.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:81585005"^^xsd:string, "UMLS_CUI:C0155517"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9496"^^xsd:string ; a owl:Class ; rdfs:label "unilateral hypoactive labyrinth"^^xsd:string ; rdfs:subClassOf obo:DOID_566 . obo:DOID_9498 obo:IAO_0000115 "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:518.3"^^xsd:string, "MESH:D011657"^^xsd:string, "SNOMEDCT_US_2021_03_01:196145005"^^xsd:string, "UMLS_CUI:C0034068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9498"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary eosinophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_999 . obo:DOID_9499 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:423486005"^^xsd:string, "UMLS_CUI:C0263662"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9499"^^xsd:string ; a owl:Class ; rdfs:label "disseminated eosinophilic collagen disease"^^xsd:string ; rdfs:subClassOf obo:DOID_854, obo:DOID_999 . obo:DOID_950 oboInOwl:hasDbXref "ICD10CM:H04.0"^^xsd:string, "ICD9CM:375.0"^^xsd:string, "MESH:D003607"^^xsd:string, "NCI:C26971"^^xsd:string, "SNOMEDCT_US_2021_03_01:86927009"^^xsd:string, "UMLS_CUI:C0155223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:950"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dacryoadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_9500 obo:IAO_0000115 "A hematopoietic system disease that is located_in white blood cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D72.9"^^xsd:string, "ICD9CM:288"^^xsd:string, "MESH:D007960"^^xsd:string, "SNOMEDCT_US_2021_03_01:191369001"^^xsd:string, "UMLS_CUI:C0023510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9500"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte disease"^^xsd:string ; rdfs:subClassOf obo:DOID_74 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000738 ] ) ] . obo:DOID_9502 obo:IAO_0000115 "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:1130"^^xsd:string, "GARD:2134"^^xsd:string, "ICD10CM:J82.81"^^xsd:string, "NCI:C34471"^^xsd:string, "SNOMEDCT_US_2021_03_01:233692000"^^xsd:string, "UMLS_CUI:C0008680"^^xsd:string ; oboInOwl:hasExactSynonym "Cryptogenic pulmonary eosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9502"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic eosinophilic pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_5870 . obo:DOID_9503 obo:IAO_0000115 "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J82.89"^^xsd:string, "MESH:D011657"^^xsd:string, "NCI:C35301"^^xsd:string, "SNOMEDCT_US_2021_03_01:64936001"^^xsd:string, "UMLS_CUI:C0242459"^^xsd:string ; oboInOwl:hasExactSynonym "Loeffler's pneumonia"@en, "Loffler's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9503"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Loeffler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_5870, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_9504 obo:IAO_0000115 "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:610.8"^^xsd:string, "UMLS_CUI:C0156319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9504"^^xsd:string ; a owl:Class ; rdfs:label "benign mammary dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_9505 obo:IAO_0000115 "A substance abuse that involves the recurring use of cannabis despite negative consequences."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2525"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F12"^^xsd:string, "ICD10CM:F12.1"^^xsd:string, "ICD9CM:305.2"^^xsd:string, "MESH:D002189"^^xsd:string, "SNOMEDCT_US_2021_03_01:268769003"^^xsd:string, "SNOMEDCT_US_2021_03_01:37344009"^^xsd:string, "UMLS_CUI:C0006868"^^xsd:string, "UMLS_CUI:C0024809"^^xsd:string ; oboInOwl:hasExactSynonym "marijuana abuse"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9505"^^xsd:string ; a owl:Class ; rdfs:label "cannabis abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_9506 obo:IAO_0000115 "A ethmoid sinusitis which lasts for less than 4 weeks."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01.2"^^xsd:string, "ICD9CM:461.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:67832005"^^xsd:string, "UMLS_CUI:C0155806"^^xsd:string ; oboInOwl:hasExactSynonym "acute ethmoid sinusitis"@en, "acute ethmoidal sinusitis"@en, "ethmoidal sinus - acute"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9506"^^xsd:string ; a owl:Class ; rdfs:label "acute ethmoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_9507 . obo:DOID_9507 obo:IAO_0000115 "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.2"^^xsd:string, "MESH:D015521"^^xsd:string, "NCI:C34597"^^xsd:string, "SNOMEDCT_US_2021_03_01:18643000"^^xsd:string, "UMLS_CUI:C0015029"^^xsd:string ; oboInOwl:hasExactSynonym "ethmoidal sinusitis"@en, "ethmoiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9507"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ethmoid sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_951 oboInOwl:hasExactSynonym "Toxic muscle disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:951"^^xsd:string ; a owl:Class ; rdfs:label "obsolete toxic myopathy"^^xsd:string ; owl:deprecated true . obo:DOID_9512 oboInOwl:hasDbXref "ICD10CM:H10.42"^^xsd:string, "ICD9CM:372.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:193866007"^^xsd:string, "UMLS_CUI:C0155146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9512"^^xsd:string ; a owl:Class ; rdfs:label "simple chronic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2475 . obo:DOID_9513 obo:IAO_0000115 "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count."^^xsd:string ; oboInOwl:hasDbXref "GARD:9373"^^xsd:string, "ICD10CM:C90.1"^^xsd:string, "ICD9CM:203.1"^^xsd:string, "MESH:D007952"^^xsd:string, "NCI:C3180"^^xsd:string, "SNOMEDCT_US_2021_03_01:269630009"^^xsd:string, "UMLS_CUI:C0023484"^^xsd:string ; oboInOwl:hasExactSynonym "plasma cell leukaemia"@en, "plasmacytic leukaemia"@en, "plasmacytic leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9513"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plasma cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_6536 . obo:DOID_9514 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9514"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multiple myeloma and immunoproliferative neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_9518 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9518"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abortion complicated by renal failure"^^xsd:string ; owl:deprecated true . obo:DOID_952 oboInOwl:hasDbXref "ICD10CM:H04.01"^^xsd:string, "ICD9CM:375.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:2589008"^^xsd:string, "UMLS_CUI:C0149505"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:952"^^xsd:string ; a owl:Class ; rdfs:label "acute dacryoadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_950 . obo:DOID_9521 obo:IAO_0000115 "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:6859"^^xsd:string, "ICD10CM:E34.3"^^xsd:string, "MESH:D046150"^^xsd:string, "NCI:C130994"^^xsd:string, "OMIM:262500"^^xsd:string, "ORDO:633"^^xsd:string, "SNOMEDCT_US_2021_03_01:38196001"^^xsd:string, "UMLS_CUI:C0271568"^^xsd:string ; oboInOwl:hasExactSynonym "Laron-type isolated somatotropin defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9521"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Laron syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_9528 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9528"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute renal failure with lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_9530 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9530"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rhesus isoimmunisation affecting management of mother"^^xsd:string ; owl:deprecated true . obo:DOID_9531 obo:IAO_0000115 "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12912"^^xsd:string, "DOID:12913"^^xsd:string, "DOID:9492"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A53.0"^^xsd:string, "ICD9CM:097.1"^^xsd:string, "MESH:D013592"^^xsd:string, "NCI:C35056"^^xsd:string, "SNOMEDCT_US_2021_03_01:444150000"^^xsd:string, "UMLS_CUI:C0039133"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "latent syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_4166, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_9534 obo:IAO_0000115 "A pneumothorax in which air enters into the pleural cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A15.0"^^xsd:string, "ICD9CM:011.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:29731002"^^xsd:string, "UMLS_CUI:C0152600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9534"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous pneumothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_1673 . obo:DOID_9535 obo:IAO_0000115 "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4185"^^xsd:string ; oboInOwl:hasExactSynonym "american hemorrhagic fever"@en, "arenaviral hemorrhagic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Arenavirus hemorrhagic fever"^^xsd:string ; owl:deprecated true . obo:DOID_9537 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A96.2"^^xsd:string, "MESH:D007835"^^xsd:string, "NCI:C128418"^^xsd:string, "SNOMEDCT_US_2021_03_01:19065005"^^xsd:string, "UMLS_CUI:C0023092"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9537"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Lassa fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11620 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_30639 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000478 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_9538 obo:IAO_0000115 "A myeloid neoplasm that is located_in the plasma cells in bone marrow."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001378"^^xsd:string, "GARD:7108"^^xsd:string, "ICD10CM:C90.0"^^xsd:string, "ICD9CM:203.0"^^xsd:string, "MESH:D009101"^^xsd:string, "NCI:C3242"^^xsd:string, "OMIM:254500"^^xsd:string, "ORDO:29073"^^xsd:string, "SNOMEDCT_US_2021_03_01:94705007"^^xsd:string, "UMLS_CUI:C0026764"^^xsd:string ; oboInOwl:hasExactSynonym "plasma cell myeloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9538"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple myeloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0070004, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0070004 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000786 ] ) ] . obo:DOID_9540 oboInOwl:hasDbXref "ICD9CM:709.1"^^xsd:string, "MESH:D017445"^^xsd:string, "NCI:C35254"^^xsd:string, "SNOMEDCT_US_2021_03_01:11263005"^^xsd:string, "UMLS_CUI:C0162819"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vascular skin disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_9541 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:42215000"^^xsd:string, "UMLS_CUI:C1510415"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9541"^^xsd:string ; a owl:Class ; rdfs:label "osteosclerotic myeloma"^^xsd:string ; rdfs:subClassOf obo:DOID_9538 . obo:DOID_9543 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9543"^^xsd:string ; a owl:Class ; rdfs:label "obsolete plasma cell myeloma PTLD"^^xsd:string ; owl:deprecated true . obo:DOID_9544 oboInOwl:hasDbXref "NCI:C7813"^^xsd:string, "UMLS_CUI:C0278620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9544"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "refractory plasma cell neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_712, obo:DOID_9538 . obo:DOID_9545 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9545"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent plasma cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_9547 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:277580004"^^xsd:string, "UMLS_CUI:C0456845"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9547"^^xsd:string ; a owl:Class ; rdfs:label "non-secretory myeloma"^^xsd:string ; rdfs:subClassOf obo:DOID_9538 . obo:DOID_955 oboInOwl:hasDbXref "UMLS_CUI:C0854906"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:955"^^xsd:string ; a owl:Class ; rdfs:label "benign neurilemmoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_9550 obo:IAO_0000115 "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7150"^^xsd:string, "SNOMEDCT_US_2021_03_01:441313008"^^xsd:string, "UMLS_CUI:C2049069"^^xsd:string ; oboInOwl:hasExactSynonym "indolent myeloma"^^xsd:string, "plasma cell myeloma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9550"^^xsd:string ; a owl:Class ; rdfs:label "indolent plasma cell myeloma"^^xsd:string ; rdfs:subClassOf obo:DOID_9538 . obo:DOID_9551 obo:IAO_0000115 "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9551"^^xsd:string ; a owl:Class ; rdfs:label "smoldering myeloma"^^xsd:string ; rdfs:subClassOf obo:DOID_9538 . obo:DOID_9552 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9552"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenal gland hypofunction"^^xsd:string ; owl:deprecated true . obo:DOID_9553 obo:IAO_0000115 "An endocrine system disease that is located_in the adrenal gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E27.9"^^xsd:string, "ICD9CM:255.9"^^xsd:string, "MESH:D000307"^^xsd:string, "NCI:C26690"^^xsd:string, "SNOMEDCT_US_2021_03_01:30171000"^^xsd:string, "UMLS_CUI:C0001621"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9553"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002369 ] ) ] . obo:DOID_956 oboInOwl:hasDbXref "NCI:C41430"^^xsd:string, "UMLS_CUI:C1519001"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:956"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral nerve schwannoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_9561 oboInOwl:hasDbXref "MESH:D009302"^^xsd:string, "NCI:C35723"^^xsd:string, "SNOMEDCT_US_2021_03_01:123952009"^^xsd:string, "UMLS_CUI:C0027438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9561"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasopharyngeal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_974 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001728 ] ) ] . obo:DOID_9562 obo:IAO_0000115 "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2925"^^xsd:string ; oboInOwl:hasDbXref "GARD:4484"^^xsd:string, "MESH:D002925"^^xsd:string, "NCI:C84638"^^xsd:string, "OMIM:PS244400"^^xsd:string, "ORDO:244"^^xsd:string, "SNOMEDCT_US_2021_03_01:86204009"^^xsd:string, "UMLS_CUI:C0008780"^^xsd:string ; oboInOwl:hasExactSynonym "ciliary motility disorder"@en, "immotile ciliary syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9562"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary ciliary dyskinesia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060340 . obo:DOID_9563 obo:IAO_0000115 "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11046"^^xsd:string, "DOID:11047"^^xsd:string, "DOID:9571"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J47"^^xsd:string, "ICD9CM:494"^^xsd:string, "MESH:D001987"^^xsd:string, "NCI:C84475"^^xsd:string, "OMIM:211400"^^xsd:string, "OMIM:613021"^^xsd:string, "OMIM:613071"^^xsd:string, "OMIM:PS211400"^^xsd:string, "ORDO:60033"^^xsd:string, "SNOMEDCT_US_2021_03_01:155580000"^^xsd:string, "UMLS_CUI:C0006267"^^xsd:string ; oboInOwl:hasExactSynonym "Polynesian bronchiectasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9563"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "bronchiectasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1176 . obo:DOID_9565 oboInOwl:hasDbXref "GARD:1827"^^xsd:string, "ICD10CM:Q24.0"^^xsd:string, "MESH:D003914"^^xsd:string, "NCI:C84669"^^xsd:string, "SNOMEDCT_US_2021_03_01:27637000"^^xsd:string, "UMLS_CUI:C0011813"^^xsd:string ; oboInOwl:hasExactSynonym "Heart predominantly in right hemithorax"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9565"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dextrocardia"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_9574 oboInOwl:hasAlternativeId "DOID:14713"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q30.0"^^xsd:string, "ICD9CM:748.0"^^xsd:string, "MESH:C562435"^^xsd:string, "MESH:D002754"^^xsd:string, "OMIM:608911"^^xsd:string, "SNOMEDCT_US_2021_03_01:156934002"^^xsd:string, "UMLS_CUI:C0008297"^^xsd:string, "UMLS_CUI:C0220723"^^xsd:string ; oboInOwl:hasExactSynonym "Atresia of nares"@en, "Imperforate nares"@en, "posterior choanal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9574"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "choanal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_2163 . obo:DOID_9577 obo:IAO_0000115 "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P37.5"^^xsd:string, "ICD9CM:771.7"^^xsd:string, "NCI:C116810"^^xsd:string, "SNOMEDCT_US_2021_03_01:3973009"^^xsd:string, "UMLS_CUI:C0276682"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal Candida infection"@en, "Neonatal candida infection"@en, "Neonatal monilia infection"@en, "neonatal moniliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal candidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1508 . obo:DOID_9579 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9579"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_9584 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region."^^xsd:string ; oboInOwl:hasDbXref "GARD:6355"^^xsd:string, "ICD10CM:A92.2"^^xsd:string, "ICD9CM:066.2"^^xsd:string, "MESH:D004685"^^xsd:string, "NCI:C35121"^^xsd:string, "SNOMEDCT_US_2021_03_01:89990001"^^xsd:string, "UMLS_CUI:C0014078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Venezuelan equine fever"@en ; oboInOwl:id "DOID:9584"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Venezuelan equine encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11036 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000210 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_9585 obo:IAO_0000115 "An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9585"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete equine encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_9588 obo:IAO_0000115 "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2160"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004660"^^xsd:string, "NCI:C26760"^^xsd:string, "SNOMEDCT_US_2021_03_01:267682000"^^xsd:string, "UMLS_CUI:C0014038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9588"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_9589 oboInOwl:hasDbXref "ICD10CM:N21.1"^^xsd:string, "ICD9CM:594.2"^^xsd:string, "NCI:C26995"^^xsd:string, "SNOMEDCT_US_2021_03_01:20342001"^^xsd:string, "UMLS_CUI:C0162301"^^xsd:string ; oboInOwl:hasExactSynonym "urethral Stone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9589"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral calculus"^^xsd:string ; rdfs:subClassOf obo:DOID_732, obo:DOID_9590, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_959 oboInOwl:hasDbXref "NCI:C5344"^^xsd:string, "UMLS_CUI:C1333467"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:959"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus squamous cell papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_9590 obo:IAO_0000115 "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N21"^^xsd:string, "ICD9CM:594"^^xsd:string, "SNOMEDCT_US_2021_03_01:79509009"^^xsd:string, "UMLS_CUI:C0156264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9590"^^xsd:string ; a owl:Class ; rdfs:label "lower urinary tract calculus"^^xsd:string ; rdfs:subClassOf obo:DOID_18, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001556 ] . obo:DOID_9594 oboInOwl:hasExactSynonym "metastasis to ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9594"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ovarian metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_9597 obo:IAO_0000115 "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:8627"^^xsd:string, "MESH:D007725"^^xsd:string, "NCI:C3153"^^xsd:string, "SNOMEDCT_US_2021_03_01:4305004"^^xsd:string, "UMLS_CUI:C0022790"^^xsd:string ; oboInOwl:hasExactSynonym "Krukenberg neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Krukenberg tumor"@en ; oboInOwl:id "DOID:9597"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Krukenberg carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2152, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_9598 obo:IAO_0000115 "A connective tissue disease characterized by inflammation located in the fascia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M72.9"^^xsd:string, "ICD9CM:729.4"^^xsd:string, "MESH:D005208"^^xsd:string, "NCI:C50559"^^xsd:string, "SNOMEDCT_US_2021_03_01:36948007"^^xsd:string, "UMLS_CUI:C0015645"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9598"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_9599 oboInOwl:hasDbXref "NCI:C4728"^^xsd:string, "SNOMEDCT_US_2021_03_01:35548007"^^xsd:string, "UMLS_CUI:C0432528"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9599"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "proliferative fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9598 . obo:DOID_96 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A05.0"^^xsd:string, "ICD9CM:005.0"^^xsd:string, "MESH:D013202"^^xsd:string, "NCI:C35037"^^xsd:string, "SNOMEDCT_US_2021_03_01:84622004"^^xsd:string, "UMLS_CUI:C0038159"^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcal food poisoning"@en, "Staphylococcal toxaemia due to food"@en, "staphyloenterotoxicosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:96"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "staphyloenterotoxemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1280 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] . obo:DOID_960 oboInOwl:hasDbXref "NCI:C3866"^^xsd:string, "SNOMEDCT_US_2021_03_01:276805005"^^xsd:string, "UMLS_CUI:C0238114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:960"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_9600 oboInOwl:hasDbXref "ICD10CM:M72.2"^^xsd:string, "MESH:D036981"^^xsd:string, "SNOMEDCT_US_2021_03_01:203056001"^^xsd:string, "UMLS_CUI:C0149756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9600"^^xsd:string ; a owl:Class ; rdfs:label "plantar fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9598 . obo:DOID_9601 oboInOwl:hasDbXref "NCI:C6483"^^xsd:string, "SNOMEDCT_US_2021_03_01:403990005"^^xsd:string, "UMLS_CUI:C1304514"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical Decubital Fibroplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9601"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ischemic fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9598 . obo:DOID_9602 oboInOwl:hasDbXref "GARD:6454"^^xsd:string, "ICD10CM:M72.6"^^xsd:string, "ICD9CM:728.86"^^xsd:string, "MESH:D019115"^^xsd:string, "NCI:C84916"^^xsd:string, "SNOMEDCT_US_2021_03_01:186428007"^^xsd:string, "UMLS_CUI:C0238124"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9602"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "necrotizing fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9598 . obo:DOID_9603 oboInOwl:hasDbXref "NCI:C4729"^^xsd:string, "SNOMEDCT_US_2021_03_01:254738007"^^xsd:string, "UMLS_CUI:C0432529"^^xsd:string ; oboInOwl:hasExactSynonym "Intravascular Pseudosarcomatous Fasciitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intravascular fasciitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7327 . obo:DOID_961 oboInOwl:hasDbXref "NCI:C5704"^^xsd:string, "UMLS_CUI:C1333463"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:961"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurofibroma of the esophagus"^^xsd:string ; rdfs:subClassOf obo:DOID_5041, obo:DOID_962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_962 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_9617 oboInOwl:hasDbXref "ICD10CM:R80.2"^^xsd:string, "ICD9CM:593.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:155874000"^^xsd:string, "UMLS_CUI:C0232867"^^xsd:string ; oboInOwl:hasExactSynonym "Postural albuminuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9617"^^xsd:string ; a owl:Class ; rdfs:label "orthostatic proteinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_962 oboInOwl:hasDbXref "GARD:7191"^^xsd:string, "MESH:D009455"^^xsd:string, "NCI:C3272"^^xsd:string, "SNOMEDCT_US_2021_03_01:404029005"^^xsd:string, "UMLS_CUI:C0027830"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:962"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3193 . obo:DOID_9620 obo:IAO_0000115 "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N13.7"^^xsd:string, "ICD9CM:593.7"^^xsd:string, "MESH:D014718"^^xsd:string, "NCI:C84467"^^xsd:string, "OMIM:193000"^^xsd:string, "OMIM:314550"^^xsd:string, "OMIM:610878"^^xsd:string, "OMIM:613674"^^xsd:string, "OMIM:614317"^^xsd:string, "OMIM:614318"^^xsd:string, "OMIM:614319"^^xsd:string, "OMIM:614674"^^xsd:string, "OMIM:615390"^^xsd:string, "OMIM:615963"^^xsd:string, "ORDO:289365"^^xsd:string, "SNOMEDCT_US_2021_03_01:197811007"^^xsd:string, "UMLS_CUI:C0042580"^^xsd:string ; oboInOwl:hasExactSynonym "vesico-ureteral reflux"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9620"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "vesicoureteral reflux"^^xsd:string ; rdfs:subClassOf obo:DOID_1426 . obo:DOID_9621 oboInOwl:hasDbXref "ICD10CM:N28.1"^^xsd:string, "ICD9CM:593.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:105999006"^^xsd:string, "UMLS_CUI:C0268799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9621"^^xsd:string ; a owl:Class ; rdfs:label "non-congenital cyst of kidney"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2975, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_9622 oboInOwl:hasDbXref "ICD10CM:N28.81"^^xsd:string, "ICD9CM:593.1"^^xsd:string, "NCI:C122991"^^xsd:string, "SNOMEDCT_US_2021_03_01:197800004"^^xsd:string, "UMLS_CUI:C0156259"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9622"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_963 obo:IAO_0000115 "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement."^^xsd:string ; oboInOwl:hasDbXref "GARD:9851"^^xsd:string, "MESH:C580065"^^xsd:string, "ORDO:211062"^^xsd:string, "SNOMEDCT_US_2021_03_01:421455009"^^xsd:string, "UMLS_CUI:C1720189"^^xsd:string ; oboInOwl:hasExactSynonym "Isaacs syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:963"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI."""^^xsd:string ; rdfs:label "episodic ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050951 . obo:DOID_9630 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9630"^^xsd:string ; a owl:Class ; rdfs:label "obsolete genetic anomaly of leucocyte"^^xsd:string ; owl:deprecated true . obo:DOID_9631 obo:IAO_0000115 "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9148"^^xsd:string, "MESH:D010381"^^xsd:string, "NCI:C85002"^^xsd:string, "OMIM:169400"^^xsd:string, "SNOMEDCT_US_2021_03_01:85559002"^^xsd:string, "UMLS_CUI:C0030779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9631"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Pelger-Huet anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_74, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_9637 obo:IAO_0000115 "A mouth disease that is characterized by inflammation of the mouth and lips."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K12.1"^^xsd:string, "MESH:D013280"^^xsd:string, "NCI:C26887"^^xsd:string, "SNOMEDCT_US_2021_03_01:95361005"^^xsd:string, "UMLS_CUI:C0038362"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9637"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "stomatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9297, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001833 ] . obo:DOID_9640 obo:IAO_0000115 "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A07.8"^^xsd:string, "ICD9CM:136.5"^^xsd:string, "MESH:D012523"^^xsd:string, "SNOMEDCT_US_2021_03_01:88905005"^^xsd:string, "UMLS_CUI:C0036231"^^xsd:string ; oboInOwl:hasExactSynonym "Sarcosporidiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9640"^^xsd:string ; a owl:Class ; rdfs:label "sarcocystosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_9642 oboInOwl:hasAlternativeId "DOID:9641"^^xsd:string, "DOID:9813"^^xsd:string ; oboInOwl:hasExactSynonym "Sydenham's chorea"@en, "chorea minor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9642"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete rheumatic chorea"^^xsd:string ; owl:deprecated true . obo:DOID_9643 obo:IAO_0000115 "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:5878"^^xsd:string, "ICD10CM:B60.0"^^xsd:string, "ICD9CM:088.82"^^xsd:string, "MESH:D001404"^^xsd:string, "NCI:C84581"^^xsd:string, "SNOMEDCT_US_2021_03_01:187241002"^^xsd:string, "UMLS_CUI:C0004576"^^xsd:string ; oboInOwl:hasExactSynonym "Babesiasis"@en, "Infection by babesia"@en, "piroplasmosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "babesiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5864 ] . obo:DOID_9647 oboInOwl:hasAlternativeId "DOID:1298"^^xsd:string, "DOID:1299"^^xsd:string, "DOID:1300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9647"^^xsd:string ; a owl:Class ; rdfs:label "obsolete obstructed labor"^^xsd:string ; owl:deprecated true . obo:DOID_9649 obo:IAO_0000115 "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H55.01"^^xsd:string, "ICD9CM:379.51"^^xsd:string, "MESH:D020417"^^xsd:string, "OMIM:PS310700"^^xsd:string, "ORDO:651"^^xsd:string, "SNOMEDCT_US_2021_03_01:155205009"^^xsd:string, "UMLS_CUI:C0700501"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9649"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "congenital nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_9650, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_9650 oboInOwl:hasDbXref "ICD10CM:H55.0"^^xsd:string, "ICD9CM:379.50"^^xsd:string, "MESH:D009759"^^xsd:string, "NCI:C3282"^^xsd:string, "SNOMEDCT_US_2021_03_01:194171007"^^xsd:string, "UMLS_CUI:C0028738"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9650"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pathologic nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_1279 . obo:DOID_9651 oboInOwl:hasDbXref "ICD10CM:I50.20"^^xsd:string, "ICD9CM:428.2"^^xsd:string, "MESH:D054143"^^xsd:string, "SNOMEDCT_US_2021_03_01:417996009"^^xsd:string, "UMLS_CUI:C1135191"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9651"^^xsd:string ; a owl:Class ; rdfs:label "systolic heart failure"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_9653 oboInOwl:hasAlternativeId "DOID:10855"^^xsd:string, "DOID:14078"^^xsd:string, "DOID:9652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9653"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension"^^xsd:string ; owl:deprecated true . obo:DOID_9654 oboInOwl:hasAlternativeId "DOID:13703"^^xsd:string, "DOID:9844"^^xsd:string, "DOID:9845"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9654"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertension complicating pregnancy, childbirth and the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_9655 obo:IAO_0000115 "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.21"^^xsd:string, "ICD9CM:528.6"^^xsd:string, "UMLS_CUI:C1112530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9655"^^xsd:string ; a owl:Class ; rdfs:label "oral mucosa leukoplakia"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_9663 obo:IAO_0000115 "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers."^^xsd:string ; oboInOwl:hasDbXref "GARD:5834"^^xsd:string, "ICD9CM:528.2"^^xsd:string, "MESH:D013281"^^xsd:string, "NCI:C62546"^^xsd:string, "SNOMEDCT_US_2021_03_01:398870000"^^xsd:string, "UMLS_CUI:C0038363"^^xsd:string ; oboInOwl:hasExactSynonym "Aphtha"@en, "Aphthous ulceration"@en, "Canker sore"@en, "Oral aphthae"@en, "oral ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Oral aphthous ulcer"@en ; oboInOwl:id "DOID:9663"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aphthous stomatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9637 . obo:DOID_9667 obo:IAO_0000115 "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12976"^^xsd:string, "DOID:12977"^^xsd:string, "DOID:13233"^^xsd:string, "DOID:13234"^^xsd:string, "DOID:13587"^^xsd:string, "DOID:13627"^^xsd:string, "DOID:14406"^^xsd:string, "DOID:9666"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O20.0"^^xsd:string, "ICD9CM:640.0"^^xsd:string, "MESH:D000033"^^xsd:string, "NCI:C112857"^^xsd:string, "SNOMEDCT_US_2021_03_01:54048003"^^xsd:string, "UMLS_CUI:C0000821"^^xsd:string ; oboInOwl:hasExactSynonym "abruptio placenta"@en, "abruptio placentae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9667"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "placental abruption"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_9669 obo:IAO_0000115 "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H25"^^xsd:string, "ICD9CM:366.1"^^xsd:string, "NCI:C35012"^^xsd:string, "SNOMEDCT_US_2021_03_01:39450006"^^xsd:string, "UMLS_CUI:C0036646"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9669"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "senile cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_9672 oboInOwl:hasDbXref "GARD:4001"^^xsd:string, "ICD10CM:A69.0"^^xsd:string, "ICD9CM:528.1"^^xsd:string, "MESH:D009625"^^xsd:string, "NCI:C34852"^^xsd:string, "SNOMEDCT_US_2021_03_01:196528007"^^xsd:string, "UMLS_CUI:C0028271"^^xsd:string ; oboInOwl:hasExactSynonym "Cancrum oris"@en, "Gangrenous stomatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9672"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "noma"^^xsd:string ; rdfs:subClassOf obo:DOID_9673 . obo:DOID_9673 oboInOwl:hasDbXref "ICD10CM:K12.1"^^xsd:string, "MESH:D005892"^^xsd:string, "NCI:C35039"^^xsd:string, "SNOMEDCT_US_2021_03_01:450005"^^xsd:string, "UMLS_CUI:C0038367"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9673"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ulcerative stomatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9637 . obo:DOID_9675 obo:IAO_0000115 "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J43.8"^^xsd:string, "ICD9CM:492.8"^^xsd:string, "OMIM:130700"^^xsd:string, "SNOMEDCT_US_2021_03_01:195962007"^^xsd:string, "UMLS_CUI:C0029607"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9675"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary emphysema"^^xsd:string ; rdfs:subClassOf obo:DOID_3083 ; skos:exactMatch "MESH:D011656"^^xsd:string . obo:DOID_9678 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9678"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_9681 obo:IAO_0000115 "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N88.3"^^xsd:string, "ICD9CM:622.5"^^xsd:string, "MESH:D002581"^^xsd:string, "NCI:C50607"^^xsd:string, "SNOMEDCT_US_2021_03_01:36836005"^^xsd:string, "UMLS_CUI:C0007871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9681"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cervical incompetence"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_9682 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9683"^^xsd:string, "DOID:9684"^^xsd:string ; oboInOwl:hasDbXref "GARD:7914"^^xsd:string, "ICD10CM:A95"^^xsd:string, "ICD9CM:060"^^xsd:string, "MESH:D015004"^^xsd:string, "NCI:C35547"^^xsd:string, "SNOMEDCT_US_2021_03_01:154345006"^^xsd:string, "UMLS_CUI:C0043395"^^xsd:string ; oboInOwl:hasExactSynonym "Sylvatic yellow fever"@en, "Yellow fever, sylvan"@en, "jungle yellow fever"@en, "urban yellow fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9682"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "yellow fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11089 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_53551 obo:NCBITaxon_7180 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ] . obo:DOID_9694 obo:IAO_0000115 "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:422.93"^^xsd:string, "SNOMEDCT_US_2021_03_01:31993003"^^xsd:string, "UMLS_CUI:C0155691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9694"^^xsd:string ; a owl:Class ; rdfs:label "toxic myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3951, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_9697 oboInOwl:hasDbXref "ICD10CM:A54.33"^^xsd:string, "ICD9CM:098.43"^^xsd:string, "SNOMEDCT_US_2021_03_01:186924001"^^xsd:string, "UMLS_CUI:C0153214"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9697"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_9698 oboInOwl:hasDbXref "ICD10CM:A54.39"^^xsd:string, "ICD9CM:098.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:186923007"^^xsd:string, "UMLS_CUI:C0153213"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9698"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "gonococcal endophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_4692, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_9699 obo:IAO_0000115 "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10601"^^xsd:string ; oboInOwl:hasDbXref "GARD:2546"^^xsd:string, "ICD10CM:P39.1"^^xsd:string, "ICD9CM:771.6"^^xsd:string, "NCI:C116815"^^xsd:string, "SNOMEDCT_US_2021_03_01:206345004"^^xsd:string, "SNOMEDCT_US_2021_03_01:80881003"^^xsd:string, "UMLS_CUI:C0027611"^^xsd:string, "UMLS_CUI:C0029076"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal conjunctivitis"@en, "Gonococcal ophthalmia neonatorum"@en, "Neonatal conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "ophthalmia neonatorum"^^xsd:string ; rdfs:subClassOf obo:DOID_9700, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000006 ] . obo:DOID_970 oboInOwl:hasDbXref "MESH:D013717"^^xsd:string, "SNOMEDCT_US_2021_03_01:240035004"^^xsd:string, "UMLS_CUI:C0039520"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammation of tendon sheath"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:970"^^xsd:string ; a owl:Class ; rdfs:label "tenosynovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_381, obo:DOID_971 . obo:DOID_9700 oboInOwl:hasDbXref "ICD10CM:H10.0"^^xsd:string, "MESH:D003234"^^xsd:string, "NCI:C53656"^^xsd:string, "SNOMEDCT_US_2021_03_01:193877001"^^xsd:string, "UMLS_CUI:C0009768"^^xsd:string ; oboInOwl:hasExactSynonym "Purulent conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_104, obo:DOID_6195, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_9709 oboInOwl:hasDbXref "ICD10CM:H10.82"^^xsd:string, "ICD9CM:372.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:10128002"^^xsd:string, "UMLS_CUI:C0155152"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9709"^^xsd:string ; a owl:Class ; rdfs:label "rosacea conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6195 . obo:DOID_971 oboInOwl:hasDbXref "ICD10CM:M77.9"^^xsd:string, "MESH:D052256"^^xsd:string, "NCI:C97141"^^xsd:string, "SNOMEDCT_US_2021_03_01:312785002"^^xsd:string, "UMLS_CUI:C0039503"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:971"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_9714 oboInOwl:hasDbXref "ICD10CM:K82.0"^^xsd:string, "ICD9CM:575.2"^^xsd:string, "NCI:C78308"^^xsd:string, "SNOMEDCT_US_2021_03_01:197415009"^^xsd:string, "UMLS_CUI:C0156214"^^xsd:string ; oboInOwl:hasExactSynonym "Obstruction of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "occlusion of gallbladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_9717 oboInOwl:hasDbXref "ICD10CM:K82.1"^^xsd:string, "ICD9CM:575.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:197421008"^^xsd:string, "UMLS_CUI:C0152445"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9717"^^xsd:string ; a owl:Class ; rdfs:label "hydrops of gallbladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_9718 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9718"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_9719 obo:IAO_0000115 "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in CAPN5 on chromosome 11q13.5."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018630"^^xsd:string, "OMIM:193235"^^xsd:string, "ORDO:329211"^^xsd:string, "SNOMEDCT_US_2021_03_01:232016005"^^xsd:string, "UMLS_CUI:C0242852"^^xsd:string ; oboInOwl:hasExactSynonym "ADNIV"@en, "Retinitis proliferans"@en, "autosomal dominant neovascular inflammatory vitreoretinopathy"@en, "proliferative vitreoretinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9719"^^xsd:string ; a owl:Class ; rdfs:label "neovascular inflammatory vitreoretinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5679, obo:DOID_9720, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_972 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:972"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of cerebrum except lobes and ventricles"^^xsd:string ; owl:deprecated true . obo:DOID_9720 obo:IAO_0000115 "An eye and adnexa disease that is located in the vitreous of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H43.39"^^xsd:string, "ICD9CM:379.24"^^xsd:string, "SNOMEDCT_US_2021_03_01:194154006"^^xsd:string, "UMLS_CUI:C0029872"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9720"^^xsd:string ; a owl:Class ; rdfs:label "vitreous disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001797 ] ) ] . obo:DOID_9722 oboInOwl:hasDbXref "ICD10CM:H16.24"^^xsd:string, "ICD9CM:360.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:12371008"^^xsd:string, "UMLS_CUI:C0154775"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9722"^^xsd:string ; a owl:Class ; rdfs:label "ophthalmia nodosa"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9723 obo:IAO_0000115 "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:360.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:48142003"^^xsd:string, "UMLS_CUI:C0042904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9723"^^xsd:string ; a owl:Class ; rdfs:label "vitreous abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_9720, obo:DOID_9724 . obo:DOID_9724 oboInOwl:hasDbXref "ICD10CM:H44.0"^^xsd:string, "ICD9CM:360.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:41720003"^^xsd:string, "UMLS_CUI:C0259800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9724"^^xsd:string ; a owl:Class ; rdfs:label "purulent endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4692 . obo:DOID_9726 oboInOwl:hasDbXref "ICD10CM:H43.81"^^xsd:string, "MESH:D020255"^^xsd:string, "NCI:C50807"^^xsd:string, "SNOMEDCT_US_2021_03_01:267747007"^^xsd:string, "UMLS_CUI:C0042907"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9726"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vitreous detachment"^^xsd:string ; rdfs:subClassOf obo:DOID_9720 . obo:DOID_9728 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9728"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitreous membranes and strands"^^xsd:string ; owl:deprecated true . obo:DOID_9729 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9729"^^xsd:string ; a owl:Class ; rdfs:label "obsolete crystalline deposits in vitreous"^^xsd:string ; owl:deprecated true . obo:DOID_9733 obo:IAO_0000115 "An urogenital tuberculosis that results_in formation of granulomas located_in kidney."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:016.0"^^xsd:string, "MESH:D014398"^^xsd:string, "NCI:C123020"^^xsd:string, "SNOMEDCT_US_2021_03_01:44323002"^^xsd:string, "UMLS_CUI:C0041328"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9733"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "renal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2149, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_9734 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9734"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete urinary tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_9735 obo:IAO_0000115 "A blue drum syndrome caused by an allergen."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:194242003"^^xsd:string, "UMLS_CUI:C0155419"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9735"^^xsd:string ; a owl:Class ; rdfs:label "acute allergic mucoid otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_9736, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_9736 obo:IAO_0000115 "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:52353000"^^xsd:string, "UMLS_CUI:C0395863"^^xsd:string ; oboInOwl:hasExactSynonym "acute mucoid otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9736"^^xsd:string ; a owl:Class ; rdfs:label "blue drum syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3697 . obo:DOID_9739 obo:IAO_0000115 "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:194277003"^^xsd:string, "UMLS_CUI:C0155435"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9739"^^xsd:string ; a owl:Class ; rdfs:label "eustachian tube disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11180 . obo:DOID_974 obo:IAO_0000115 "A respiratory system disease which involves the upper respiratory tract."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:478.19"^^xsd:string, "SNOMEDCT_US_2021_03_01:195823002"^^xsd:string, "UMLS_CUI:C0029581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:974"^^xsd:string ; a owl:Class ; rdfs:label "upper respiratory tract disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1579, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000513 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001557 ] ) ] . obo:DOID_9740 oboInOwl:hasDbXref "ICD10CM:K91.5"^^xsd:string, "ICD9CM:576.0"^^xsd:string, "MESH:D017562"^^xsd:string, "SNOMEDCT_US_2021_03_01:90782003"^^xsd:string, "UMLS_CUI:C0152099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9740"^^xsd:string ; a owl:Class ; rdfs:label "postcholecystectomy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9741 . obo:DOID_9741 oboInOwl:hasDbXref "ICD10CM:K83.9"^^xsd:string, "ICD9CM:576.9"^^xsd:string, "MESH:D001660"^^xsd:string, "SNOMEDCT_US_2021_03_01:5235004"^^xsd:string, "UMLS_CUI:C0005424"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9741"^^xsd:string ; a owl:Class ; rdfs:label "biliary tract disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001173 ] ) ] . obo:DOID_9742 obo:IAO_0000115 "A varicose veins that is located_in the pelvis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I86.2"^^xsd:string, "ICD9CM:456.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:266271008"^^xsd:string, "UMLS_CUI:C0155795"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9742"^^xsd:string ; a owl:Class ; rdfs:label "pelvic varices"^^xsd:string ; rdfs:subClassOf obo:DOID_799 . obo:DOID_9743 oboInOwl:hasDbXref "ICD9CM:250.6"^^xsd:string, "MESH:D003929"^^xsd:string, "NCI:C26748"^^xsd:string, "SNOMEDCT_US_2021_03_01:193182005"^^xsd:string, "UMLS_CUI:C0011882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9743"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_9744 obo:IAO_0000115 "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001359"^^xsd:string, "GARD:10268"^^xsd:string, "ICD10CM:E10"^^xsd:string, "KEGG:04940"^^xsd:string, "MESH:D003922"^^xsd:string, "NCI:C2986"^^xsd:string, "OMIM:222100"^^xsd:string, "SNOMEDCT_US_2021_03_01:46635009"^^xsd:string, "UMLS_CUI:C0011854"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM"@en, "insulin-dependent diabetes mellitus"@en, "type I diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9744"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "type 1 diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005, obo:DOID_9351, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000949 ] ) ] . obo:DOID_9745 oboInOwl:hasDbXref "ICD10CM:K64.5"^^xsd:string, "ICD9CM:455.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:26373009"^^xsd:string, "UMLS_CUI:C0155784"^^xsd:string ; oboInOwl:hasExactSynonym "External thrombosed haemorrhoids"@en, "Thrombosed external hemorrhoids"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9745"^^xsd:string ; a owl:Class ; rdfs:label "perianal hematoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9746 . obo:DOID_9746 obo:IAO_0000115 "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K64"^^xsd:string, "ICD9CM:455"^^xsd:string, "MESH:D006484"^^xsd:string, "NCI:C26792"^^xsd:string, "SNOMEDCT_US_2021_03_01:70153002"^^xsd:string, "UMLS_CUI:C0019112"^^xsd:string ; oboInOwl:hasExactSynonym "hemorrhoidal disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9746"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemorrhoid"^^xsd:string ; rdfs:subClassOf obo:DOID_3128, obo:DOID_37, obo:DOID_9742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_866 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012336 ] ) ] . obo:DOID_9749 obo:IAO_0000115 "A hemorrhoid that is located_in the rectum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:455.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:82985000"^^xsd:string, "UMLS_CUI:C0041844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9749"^^xsd:string ; a owl:Class ; rdfs:label "internal hemorrhoid"^^xsd:string ; rdfs:subClassOf obo:DOID_9746 . obo:DOID_9751 oboInOwl:hasExactSynonym "Baker's Cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9751"^^xsd:string ; a owl:Class ; rdfs:label "obsolete popliteal cyst"^^xsd:string ; owl:deprecated true . obo:DOID_9753 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rupture of synovium"^^xsd:string ; owl:deprecated true . obo:DOID_9754 oboInOwl:hasDbXref "ICD9CM:727.49"^^xsd:string, "UMLS_CUI:C0158336"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9754"^^xsd:string ; a owl:Class ; rdfs:label "ganglion or cyst of synovium/tendon/bursa"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_9761 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9761"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arthropathy associated with dermatological disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9762 oboInOwl:hasExactSynonym "Cyanotic attacks of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal cyanotic attack"^^xsd:string ; owl:deprecated true . obo:DOID_9764 oboInOwl:hasExactSynonym "calculus of gallbladder with cholecystitis (disorder)"@en, "cholecystitis with Cholelithiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9764"^^xsd:string ; a owl:Class ; rdfs:label "obsolete biliary calculus with cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_9765 obo:IAO_0000115 "Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues."^^xsd:string ; oboInOwl:hasDbXref "MESH:D041882"^^xsd:string, "NCI:C35592"^^xsd:string, "SNOMEDCT_US_2021_03_01:95558008"^^xsd:string, "UMLS_CUI:C0521610"^^xsd:string ; oboInOwl:hasExactSynonym "Gaseous pericholecystitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9765"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "emphysematous cholecystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1949 . obo:DOID_9766 oboInOwl:hasDbXref "GARD:9451"^^xsd:string, "MESH:C536762"^^xsd:string, "NCI:C35792"^^xsd:string, "SNOMEDCT_US_2021_03_01:448286002"^^xsd:string, "UMLS_CUI:C1337035"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "xanthogranulomatous cholecystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1949 . obo:DOID_9767 oboInOwl:hasDbXref "MESH:D017682"^^xsd:string, "UMLS_CUI:C0206146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9767"^^xsd:string ; a owl:Class ; rdfs:label "myocardial stunning"^^xsd:string ; rdfs:subClassOf obo:DOID_5844 . obo:DOID_9768 oboInOwl:hasDbXref "ICD10CM:I25.3"^^xsd:string, "MESH:D006322"^^xsd:string, "SNOMEDCT_US_2021_03_01:155317009"^^xsd:string, "UMLS_CUI:C0018789"^^xsd:string ; oboInOwl:hasExactSynonym "cardiac aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9768"^^xsd:string ; a owl:Class ; rdfs:label "heart aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_9770 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9770"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Retracted nipple associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_9771 oboInOwl:hasDbXref "ICD10CM:P61.0"^^xsd:string, "ICD9CM:776.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:23205009"^^xsd:string, "UMLS_CUI:C0158991"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9771"^^xsd:string ; a owl:Class ; rdfs:label "transient neonatal thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_11245 . obo:DOID_9772 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9772"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hematological disease of fetus and newborn"^^xsd:string ; owl:deprecated true . obo:DOID_9773 obo:IAO_0000115 "A female breast cancer that is located_in the upper-outer quadrant of the breast."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C50.41"^^xsd:string, "ICD9CM:174.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:188154003"^^xsd:string, "UMLS_CUI:C0153552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9773"^^xsd:string ; a owl:Class ; rdfs:label "female breast upper-outer quadrant cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_9775 oboInOwl:hasDbXref "ICD10CM:I50.30"^^xsd:string, "ICD9CM:428.3"^^xsd:string, "MESH:D054144"^^xsd:string, "SNOMEDCT_US_2021_03_01:418304008"^^xsd:string, "UMLS_CUI:C1135196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9775"^^xsd:string ; a owl:Class ; rdfs:label "diastolic heart failure"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_9776 oboInOwl:hasDbXref "ICD9CM:363.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:38513001"^^xsd:string, "UMLS_CUI:C0154891"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9776"^^xsd:string ; a owl:Class ; rdfs:label "Senile atrophy of choroid"^^xsd:string ; rdfs:subClassOf obo:DOID_980 . obo:DOID_9778 obo:IAO_0000115 "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K58"^^xsd:string, "ICD9CM:564.1"^^xsd:string, "KEGG:05321"^^xsd:string, "MESH:D043183"^^xsd:string, "NCI:C82343"^^xsd:string, "SNOMEDCT_US_2021_03_01:155783000"^^xsd:string, "UMLS_CUI:C0022104"^^xsd:string ; oboInOwl:hasExactSynonym "IBD"@en, "Irritable colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Psychogenic IBS"@en ; oboInOwl:id "DOID:9778"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "irritable bowel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000420 ] . obo:DOID_9779 oboInOwl:hasDbXref "ICD10CM:K59.9"^^xsd:string, "ICD9CM:564.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:81120009"^^xsd:string, "UMLS_CUI:C0016807"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9779"^^xsd:string ; a owl:Class ; rdfs:label "bowel dysfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_9784 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B75"^^xsd:string, "ICD9CM:124"^^xsd:string, "MESH:D014235"^^xsd:string, "NCI:C85199"^^xsd:string, "SNOMEDCT_US_2021_03_01:709018004"^^xsd:string, "UMLS_CUI:C0040896"^^xsd:string ; oboInOwl:hasExactSynonym "Trichinella spiralis infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9784"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trichinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6333 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000095 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_9786 obo:IAO_0000115 "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:045.0"^^xsd:string, "MESH:D011052"^^xsd:string, "SNOMEDCT_US_2021_03_01:64764001"^^xsd:string, "UMLS_CUI:C0032372"^^xsd:string ; oboInOwl:hasExactSynonym "bulbar poliomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9786"^^xsd:string ; a owl:Class ; rdfs:label "bulbar polio"^^xsd:string ; rdfs:subClassOf obo:DOID_0050515, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] . obo:DOID_9787 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9787"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Foreign body granuloma of muscle"^^xsd:string ; owl:deprecated true . obo:DOID_9788 oboInOwl:hasDbXref "ICD10CM:M60.1"^^xsd:string, "ICD9CM:728.81"^^xsd:string, "NCI:C26985"^^xsd:string, "SNOMEDCT_US_2021_03_01:55925001"^^xsd:string, "UMLS_CUI:C0158362"^^xsd:string ; oboInOwl:hasExactSynonym "Interstitial myositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9788"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myositis fibrosa"^^xsd:string ; rdfs:subClassOf obo:DOID_633 . obo:DOID_979 oboInOwl:hasDbXref "ICD9CM:363.43"^^xsd:string, "SNOMEDCT_US_2021_03_01:86103006"^^xsd:string, "UMLS_CUI:C0002983"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:979"^^xsd:string ; a owl:Class ; rdfs:label "angioid streaks of choroid"^^xsd:string ; rdfs:subClassOf obo:DOID_13401, obo:DOID_8466, obo:DOID_980 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_13401 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] ) ] . obo:DOID_9790 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9791"^^xsd:string ; oboInOwl:hasDbXref "GARD:7788"^^xsd:string, "ICD10CM:B83.0"^^xsd:string, "MESH:D007816"^^xsd:string, "NCI:C34758"^^xsd:string, "SNOMEDCT_US_2021_03_01:87121004"^^xsd:string, "UMLS_CUI:C0023049"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Toxascaris"@en, "Toxocara infection"@en, "visceral larva migrans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9790"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "toxocariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_114, obo:DOID_409, obo:DOID_5614, obo:DOID_850, obo:DOID_883, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6264 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] . obo:DOID_9794 oboInOwl:hasDbXref "ICD10CM:H31.2"^^xsd:string, "ICD9CM:363.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:74469006"^^xsd:string, "UMLS_CUI:C0154893"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9794"^^xsd:string ; a owl:Class ; rdfs:label "hereditary choroidal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_980 . obo:DOID_9795 oboInOwl:hasAlternativeId "DOID:9793"^^xsd:string ; oboInOwl:hasExactSynonym "meningeal tuberculosis"@en, "tuberculoma of meninges"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9795"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_9799 oboInOwl:hasDbXref "ICD10CM:H44.5"^^xsd:string, "ICD9CM:360.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:62585004"^^xsd:string, "UMLS_CUI:C0154777"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9799"^^xsd:string ; a owl:Class ; rdfs:label "eye degenerative disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_98 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:98"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_980 oboInOwl:hasDbXref "ICD10CM:H31.10"^^xsd:string, "ICD9CM:363.4"^^xsd:string, "MESH:C535358"^^xsd:string, "OMIM:215500"^^xsd:string, "SNOMEDCT_US_2021_03_01:47638000"^^xsd:string, "UMLS_CUI:C0344297"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal degenerations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:980"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "choroidal sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1417, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] ) ] . obo:DOID_9801 obo:IAO_0000115 "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.31"^^xsd:string, "ICD9CM:014.0"^^xsd:string, "MESH:D014395"^^xsd:string, "SNOMEDCT_US_2021_03_01:197170002"^^xsd:string, "UMLS_CUI:C0041325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9801"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous peritonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_404, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000002 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ] . obo:DOID_9804 obo:IAO_0000115 "A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9804"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_9805 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9805"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9808 obo:IAO_0000115 "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9812"^^xsd:string ; oboInOwl:hasDbXref "GARD:2551"^^xsd:string, "ICD10CM:M31.0"^^xsd:string, "ICD9CM:446.21"^^xsd:string, "MESH:D019867"^^xsd:string, "NCI:C84566"^^xsd:string, "OMIM:233450"^^xsd:string, "SNOMEDCT_US_2021_03_01:788613004"^^xsd:string, "UMLS_CUI:C0403529"^^xsd:string ; oboInOwl:hasExactSynonym "anti-GBM disease"@en, "anti-glomerular basement membrane disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9808"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Goodpasture syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060049, obo:DOID_557, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004122 ] . obo:DOID_9809 obo:IAO_0000115 "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers."^^xsd:string ; oboInOwl:hasDbXref "GARD:7851"^^xsd:string, "ICD10CM:M31.0"^^xsd:string, "ICD9CM:446.2"^^xsd:string, "MESH:D018366"^^xsd:string, "NCI:C35119"^^xsd:string, "SNOMEDCT_US_2021_03_01:195350001"^^xsd:string, "UMLS_CUI:C0151436"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9809"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypersensitivity vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1557 . obo:DOID_981 oboInOwl:hasDbXref "ICD10CM:H31.12"^^xsd:string, "ICD9CM:363.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:193463006"^^xsd:string, "UMLS_CUI:C0154892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:981"^^xsd:string ; a owl:Class ; rdfs:label "diffuse secondary choroid atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_980 . obo:DOID_9810 obo:IAO_0000115 "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries."^^xsd:string ; oboInOwl:hasDbXref "GARD:7360"^^xsd:string, "ICD10CM:M30.0"^^xsd:string, "ICD9CM:446.0"^^xsd:string, "MESH:D010488"^^xsd:string, "NCI:C26847"^^xsd:string, "SNOMEDCT_US_2021_03_01:195347004"^^xsd:string, "UMLS_CUI:C0031036"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9810"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polyarteritis nodosa"^^xsd:string ; rdfs:subClassOf obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9811 oboInOwl:hasDbXref "ICD9CM:363.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:193466003"^^xsd:string, "UMLS_CUI:C0154895"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9811"^^xsd:string ; a owl:Class ; rdfs:label "partial circumpapillary choroid dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9794 . obo:DOID_9815 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Recent retinal detachment, total or subtotal"^^xsd:string ; owl:deprecated true . obo:DOID_9816 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9816"^^xsd:string ; a owl:Class ; rdfs:label "obsolete partial recent retinal detachment with giant tear"^^xsd:string ; owl:deprecated true . obo:DOID_9818 oboInOwl:hasAlternativeId "DOID:12513"^^xsd:string, "DOID:12515"^^xsd:string, "DOID:9817"^^xsd:string, "DOID:9826"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9818"^^xsd:string ; a owl:Class ; rdfs:label "obsolete retinal defect"^^xsd:string ; owl:deprecated true . obo:DOID_9819 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9819"^^xsd:string ; a owl:Class ; rdfs:label "obsolete delimited old retinal detachment"^^xsd:string ; owl:deprecated true . obo:DOID_982 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:982"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_9820 oboInOwl:hasDbXref "ICD9CM:363.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:392049002"^^xsd:string, "UMLS_CUI:C0154898"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal dystrophy, serpiginous"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9820"^^xsd:string ; a owl:Class ; rdfs:label "central gyrate choroidal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9822 . obo:DOID_9821 oboInOwl:hasDbXref "GARD:6061"^^xsd:string, "ICD10CM:H31.21"^^xsd:string, "ICD9CM:363.55"^^xsd:string, "MESH:D015794"^^xsd:string, "NCI:C34469"^^xsd:string, "OMIM:303100"^^xsd:string, "ORDO:180"^^xsd:string, "SNOMEDCT_US_2021_03_01:75241009"^^xsd:string, "UMLS_CUI:C0008525"^^xsd:string ; oboInOwl:hasExactSynonym "progressive Choroidal Atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9821"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "choroideremia"^^xsd:string ; rdfs:subClassOf obo:DOID_1417 ; skos:exactMatch "MESH:D015794"^^xsd:string . obo:DOID_9822 oboInOwl:hasDbXref "ICD9CM:363.53"^^xsd:string, "OMIM:613105"^^xsd:string, "SNOMEDCT_US_2021_03_01:193468002"^^xsd:string, "UMLS_CUI:C0339427"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal dystrophy, central areolar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9822"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "partial central choroid dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9794 . obo:DOID_9823 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9823"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Partial recent retinal detachment with retinal dialysis"^^xsd:string ; owl:deprecated true . obo:DOID_9824 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9824"^^xsd:string ; a owl:Class ; rdfs:label "obsolete total or subtotal old retinal detachment"^^xsd:string ; owl:deprecated true . obo:DOID_9827 oboInOwl:hasDbXref "ICD10CM:Q74.0"^^xsd:string, "ICD9CM:755.53"^^xsd:string, "MESH:C562408"^^xsd:string, "OMIM:179300"^^xsd:string, "SNOMEDCT_US_2021_03_01:33313004"^^xsd:string, "UMLS_CUI:C0158761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9827"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "radioulnar synostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_9828 obo:IAO_0000115 "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6679"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P96.1"^^xsd:string, "ICD9CM:779.5"^^xsd:string, "MESH:D009357"^^xsd:string, "NCI:C35808"^^xsd:string, "NCI:C87101"^^xsd:string, "SNOMEDCT_US_2021_03_01:414819007"^^xsd:string, "UMLS_CUI:C0027609"^^xsd:string, "UMLS_CUI:C1332133"^^xsd:string ; oboInOwl:hasExactSynonym "Drug withdrawal syndrome in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9828"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal abstinence syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060001 . obo:DOID_9829 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9829"^^xsd:string ; a owl:Class ; rdfs:label "obsolete drug abstinence syndrome or symptom"^^xsd:string ; owl:deprecated true . obo:DOID_9834 oboInOwl:hasDbXref "ICD10CM:H52.0"^^xsd:string, "ICD9CM:367.0"^^xsd:string, "MESH:D006956"^^xsd:string, "SNOMEDCT_US_2021_03_01:38101003"^^xsd:string, "UMLS_CUI:C0020490"^^xsd:string ; oboInOwl:hasExactSynonym "Far-sightedness"@en, "hypermetropia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9834"^^xsd:string ; a owl:Class ; rdfs:label "hyperopia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_9835 oboInOwl:hasDbXref "EFO:0003908"^^xsd:string, "ICD10CM:H52.7"^^xsd:string, "MESH:D012030"^^xsd:string, "NCI:C87145"^^xsd:string, "SNOMEDCT_US_2021_03_01:39021009"^^xsd:string, "UMLS_CUI:C0034951"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9835"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "refractive error"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_9836 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete refraction or accommodation disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9837 oboInOwl:hasDbXref "ICD10CM:H50.2"^^xsd:string, "ICD9CM:378.31"^^xsd:string, "MESH:D013285"^^xsd:string, "NCI:C34716"^^xsd:string, "SNOMEDCT_US_2021_03_01:40608009"^^xsd:string, "UMLS_CUI:C0020575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9837"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9838 oboInOwl:hasDbXref "ICD10CM:H50.41"^^xsd:string, "ICD9CM:378.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:70486007"^^xsd:string, "UMLS_CUI:C0152209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9838"^^xsd:string ; a owl:Class ; rdfs:label "cyclotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9839 oboInOwl:hasDbXref "ICD10CM:H50.43"^^xsd:string, "ICD9CM:378.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:194112008"^^xsd:string, "UMLS_CUI:C0155336"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9839"^^xsd:string ; a owl:Class ; rdfs:label "accommodative esotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9840 . obo:DOID_984 oboInOwl:hasAlternativeId "DOID:983"^^xsd:string ; oboInOwl:hasExactSynonym "Costen's syndrome"@en, "Myofascial pain - dysfunction syndrome of TMJ"@en, "TMJ SYNDROME"@en, "TMJ-pain-dysfunction syndrome"@en, "temporomandibular dysfunction syndrome"@en, "temporomandibular joint dysfunction syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:984"^^xsd:string ; a owl:Class ; rdfs:label "obsolete temporomandibular joint disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9840 obo:IAO_0000115 "A strabismus that is characterized the eye which turns inward toward the nose."^^xsd:string ; oboInOwl:hasDbXref "GARD:8235"^^xsd:string, "ICD10CM:H50.0"^^xsd:string, "ICD9CM:378.0"^^xsd:string, "MESH:D004948"^^xsd:string, "NCI:C34596"^^xsd:string, "SNOMEDCT_US_2021_03_01:155193001"^^xsd:string, "UMLS_CUI:C0014877"^^xsd:string ; oboInOwl:hasExactSynonym "Convergence in manifest squint"@en, "Internal Strabismus"@en, "crossed eyes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9841 oboInOwl:hasDbXref "ICD9CM:378.32"^^xsd:string, "NCI:C42086"^^xsd:string, "SNOMEDCT_US_2021_03_01:29491004"^^xsd:string, "UMLS_CUI:C0152208"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9842 oboInOwl:hasDbXref "ICD9CM:363.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:59753003"^^xsd:string, "UMLS_CUI:C0154896"^^xsd:string ; oboInOwl:hasExactSynonym "Circumpapillary dystrophy of choroid, total"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9842"^^xsd:string ; a owl:Class ; rdfs:label "total circumpapillary dystrophy of choroid"^^xsd:string ; rdfs:subClassOf obo:DOID_9794 . obo:DOID_9843 oboInOwl:hasDbXref "ICD10CM:H50.42"^^xsd:string, "ICD9CM:378.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:14785004"^^xsd:string, "UMLS_CUI:C0339611"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9843"^^xsd:string ; a owl:Class ; rdfs:label "monofixation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_9847 oboInOwl:hasDbXref "ICD10CM:H81.399"^^xsd:string, "ICD9CM:386.19"^^xsd:string, "SNOMEDCT_US_2021_03_01:194359006"^^xsd:string, "UMLS_CUI:C0029706"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9847"^^xsd:string ; a owl:Class ; rdfs:label "peripheral vertigo"^^xsd:string ; rdfs:subClassOf obo:DOID_3426 . obo:DOID_9848 oboInOwl:hasDbXref "ICD10CM:H81.0"^^xsd:string, "MESH:D018159"^^xsd:string, "SNOMEDCT_US_2021_03_01:194346003"^^xsd:string, "UMLS_CUI:C0206586"^^xsd:string ; oboInOwl:hasExactSynonym "labyrinthine hydrops"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9848"^^xsd:string ; a owl:Class ; rdfs:label "endolymphatic hydrops"^^xsd:string ; rdfs:subClassOf obo:DOID_9847 . obo:DOID_9849 obo:IAO_0000115 "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:10340"^^xsd:string, "ICD10CM:H81.0"^^xsd:string, "ICD9CM:386.0"^^xsd:string, "MESH:D008575"^^xsd:string, "OMIM:156000"^^xsd:string, "SNOMEDCT_US_2021_03_01:194346003"^^xsd:string, "UMLS_CUI:C0025281"^^xsd:string ; oboInOwl:hasExactSynonym "Meniere disease"@en, "Mnire's vertigo"@en, "Otogenic vertigo"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9849"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Meniere's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9848 . obo:DOID_985 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:985"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_9854 oboInOwl:hasDbXref "ICD10CM:G24.4"^^xsd:string, "ICD9CM:333.82"^^xsd:string, "MESH:D020820"^^xsd:string, "SNOMEDCT_US_2021_03_01:267689009"^^xsd:string, "UMLS_CUI:C0152115"^^xsd:string ; oboInOwl:hasExactSynonym "Oro-facial dyskinesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9854"^^xsd:string ; a owl:Class ; rdfs:label "lingual-facial-buccal dyskinesia"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_9855 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9855"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic interstitial keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_9856 obo:IAO_0000115 "A syphilis that results_in a multisystem infection in the fetus via the placenta."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A50"^^xsd:string, "ICD9CM:090"^^xsd:string, "MESH:D013590"^^xsd:string, "NCI:C84649"^^xsd:string, "SNOMEDCT_US_2021_03_01:154380005"^^xsd:string, "UMLS_CUI:C0039131"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9856"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "congenital syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_4166, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_9857 obo:IAO_0000115 "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.30"^^xsd:string, "ICD9CM:370.50"^^xsd:string, "SNOMEDCT_US_2021_03_01:1763009"^^xsd:string, "UMLS_CUI:C0155088"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9857"^^xsd:string ; a owl:Class ; rdfs:label "interstitial keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9858 oboInOwl:hasDbXref "ICD10CM:H16.3"^^xsd:string, "ICD9CM:370.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:193783008"^^xsd:string, "UMLS_CUI:C0155087"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9858"^^xsd:string ; a owl:Class ; rdfs:label "deep keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_986 obo:IAO_0000115 "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004192"^^xsd:string, "GARD:5782"^^xsd:string, "ICD10CM:L63"^^xsd:string, "ICD9CM:704.01"^^xsd:string, "MESH:D000506"^^xsd:string, "OMIM:104000"^^xsd:string, "OMIM:610753"^^xsd:string, "SNOMEDCT_US_2021_03_01:201131001"^^xsd:string, "UMLS_CUI:C0002171"^^xsd:string ; oboInOwl:hasExactSynonym "Circumscribed alopecia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:986"^^xsd:string ; a owl:Class ; rdfs:label "alopecia areata"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] ; skos:exactMatch "MESH:D000506"^^xsd:string . obo:DOID_9861 obo:IAO_0000115 "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9862"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A19"^^xsd:string, "ICD9CM:018"^^xsd:string, "MESH:D014391"^^xsd:string, "NCI:C35086"^^xsd:string, "SNOMEDCT_US_2021_03_01:154291001"^^xsd:string, "UMLS_CUI:C0041321"^^xsd:string ; oboInOwl:hasExactSynonym "Disseminated tuberculosis"@en, "Tuberculosis miliaris disseminata"@en, "acute miliary tuberculosis"@en, "generalized tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "miliary tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598 . obo:DOID_9866 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9866"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lactation disorder"^^xsd:string ; owl:deprecated true . obo:DOID_9867 oboInOwl:hasDbXref "ICD10CM:H35.38"^^xsd:string, "ICD9CM:362.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:193389005"^^xsd:string, "UMLS_CUI:C0271086"^^xsd:string ; oboInOwl:hasExactSynonym "Toxic maculopathy of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9867"^^xsd:string ; a owl:Class ; rdfs:label "toxic maculopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_9868 oboInOwl:hasDbXref "ICD9CM:271.3"^^xsd:string, "NCI:C34731"^^xsd:string, "UMLS_CUI:C0021830"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9868"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal disaccharidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2978, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_9869 oboInOwl:hasDbXref "ICD10CM:E74.12"^^xsd:string, "ICD9CM:271.2"^^xsd:string, "MESH:D005633"^^xsd:string, "NCI:C84720"^^xsd:string, "OMIM:229600"^^xsd:string, "SNOMEDCT_US_2021_03_01:20290005"^^xsd:string, "UMLS_CUI:C0016751"^^xsd:string ; oboInOwl:hasExactSynonym "Fructosaemia"@en, "Fructose-1,6-bisphosphate aldolase B deficiency"@en, "Fructosemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9869"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary fructose intolerance syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_987 obo:IAO_0000115 "A hypotrichosis that is characterized by a loss of hair from the head or body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L65.9"^^xsd:string, "ICD9CM:704.0"^^xsd:string, "MESH:D000505"^^xsd:string, "NCI:C50575"^^xsd:string, "OMIM:PS203655"^^xsd:string, "SNOMEDCT_US_2021_03_01:270504008"^^xsd:string, "UMLS_CUI:C0002170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:987"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alopecia"^^xsd:string ; rdfs:subClassOf obo:DOID_4535 ; skos:exactMatch "MESH:D000505"^^xsd:string . obo:DOID_9870 obo:IAO_0000115 "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues."^^xsd:string ; oboInOwl:hasDbXref "GARD:2424"^^xsd:string, "ICD10CM:E74.21"^^xsd:string, "ICD9CM:271.1"^^xsd:string, "MESH:D005693"^^xsd:string, "NCI:C84723"^^xsd:string, "SNOMEDCT_US_2021_03_01:38177000"^^xsd:string, "UMLS_CUI:C0016952"^^xsd:string ; oboInOwl:hasExactSynonym "Galactosaemia"@en, "Galactose intolerance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9870"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "galactosemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_9877 oboInOwl:hasDbXref "ICD10CM:N34.0"^^xsd:string, "ICD9CM:597.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:197899005"^^xsd:string, "UMLS_CUI:C0156278"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9877"^^xsd:string ; a owl:Class ; rdfs:label "urethral gland abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_9878 oboInOwl:hasAlternativeId "DOID:13418"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum late vomiting of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9878"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Excessive vomiting starting after 22 completed weeks of gestation"^^xsd:string ; owl:deprecated true . obo:DOID_988 obo:IAO_0000115 "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008945"^^xsd:string, "NCI:C50655"^^xsd:string, "OMIM:157700"^^xsd:string, "OMIM:607829"^^xsd:string, "OMIM:610840"^^xsd:string, "SNOMEDCT_US_2021_03_01:8074002"^^xsd:string, "UMLS_CUI:C0026267"^^xsd:string ; oboInOwl:hasExactSynonym "Barlow's syndrome"@en, "floppy mitral valve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mitral leaflet syndrome"@en, "myxomatous mitral valve prolapse"@en, "systolic click-murmur syndrome"@en ; oboInOwl:id "DOID:988"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "mitral valve prolapse"^^xsd:string ; rdfs:subClassOf obo:DOID_61 . obo:DOID_9880 obo:IAO_0000115 "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:093.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:111823001"^^xsd:string, "UMLS_CUI:C0029751"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9880"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "cardiovascular syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_8200, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002617 ] . obo:DOID_9883 obo:IAO_0000115 "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21."^^xsd:string ; oboInOwl:hasDbXref "GARD:5900"^^xsd:string, "OMIM:300376"^^xsd:string, "ORDO:98895"^^xsd:string, "SNOMEDCT_US_2021_03_01:111501005"^^xsd:string, "UMLS_CUI:C0699741"^^xsd:string ; oboInOwl:hasExactSynonym "Benign pseudohypertrophic muscular dystrophy"@en, "benign congenital myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9883"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Becker muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_9884 obo:IAO_0000115 "A myopathy is characterized by progressive skeletal muscle weakness degeneration."^^xsd:string ; oboInOwl:hasDbXref "GARD:7922"^^xsd:string, "ICD10CM:G71.0"^^xsd:string, "MESH:D009136"^^xsd:string, "NCI:C84910"^^xsd:string, "OMIM:158800"^^xsd:string, "OMIM:159050"^^xsd:string, "OMIM:309930"^^xsd:string, "OMIM:309950"^^xsd:string, "OMIM:310000"^^xsd:string, "OMIM:310095"^^xsd:string, "OMIM:600416"^^xsd:string, "SNOMEDCT_US_2021_03_01:155095006"^^xsd:string, "UMLS_CUI:C0026850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9884"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_9888 oboInOwl:hasDbXref "ICD10CM:H50.05"^^xsd:string, "ICD9CM:378.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:194080005"^^xsd:string, "UMLS_CUI:C0152205"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9888"^^xsd:string ; a owl:Class ; rdfs:label "alternating esotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9840 . obo:DOID_9889 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9889"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alternating esotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_9890 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9890"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent alternating esotropia"^^xsd:string ; owl:deprecated true . obo:DOID_9891 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9891"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alternating esotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_9892 oboInOwl:hasDbXref "ICD10CM:I77.4"^^xsd:string, "ICD9CM:447.4"^^xsd:string, "MESH:D000074742"^^xsd:string, "SNOMEDCT_US_2021_03_01:9250002"^^xsd:string, "UMLS_CUI:C1861783"^^xsd:string ; oboInOwl:hasExactSynonym "Celiac artery compression syndrome"@en, "Harjola-Marable syndrome"@en, "Marable's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9892"^^xsd:string ; a owl:Class ; rdfs:label "median arcuate ligament syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0015215 ] ; skos:exactMatch "MESH:D000074742"^^xsd:string . obo:DOID_9893 oboInOwl:hasDbXref "ICD10CM:K05.4"^^xsd:string, "ICD9CM:523.5"^^xsd:string, "MESH:D010520"^^xsd:string, "UMLS_CUI:C0600298"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9893"^^xsd:string ; a owl:Class ; rdfs:label "periodontosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_9898 oboInOwl:hasAlternativeId "DOID:10635"^^xsd:string, "DOID:10636"^^xsd:string, "DOID:10637"^^xsd:string, "DOID:10638"^^xsd:string, "DOID:10639"^^xsd:string, "DOID:10640"^^xsd:string, "DOID:10641"^^xsd:string, "DOID:9897"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M12.20"^^xsd:string, "ICD9CM:719.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:34671005"^^xsd:string, "UMLS_CUI:C0158168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9898"^^xsd:string ; a owl:Class ; rdfs:label "villonodular synovitis"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_9899 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9899"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with tumors or cysts"^^xsd:string ; owl:deprecated true . obo:DOID_990 obo:IAO_0000115 "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:6164"^^xsd:string, "ICD10CM:Q24.6"^^xsd:string, "ICD9CM:746.86"^^xsd:string, "MESH:C535758"^^xsd:string, "OMIM:234700"^^xsd:string, "SNOMEDCT_US_2021_03_01:156924006"^^xsd:string, "UMLS_CUI:C0149530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:990"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital heart block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_9900 oboInOwl:hasExactSynonym "Psychogenic paranoid psychosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9900"^^xsd:string ; a owl:Class ; rdfs:label "obsolete protracted reactive paranoid psychosis"^^xsd:string ; owl:deprecated true . obo:DOID_9903 obo:IAO_0000115 "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H00.1"^^xsd:string, "ICD9CM:373.2"^^xsd:string, "MESH:D017043"^^xsd:string, "NCI:C26717"^^xsd:string, "SNOMEDCT_US_2021_03_01:155172004"^^xsd:string, "UMLS_CUI:C0007933"^^xsd:string ; oboInOwl:hasExactSynonym "Chalazion"@en, "meibomian gland lipogranuloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meibomian cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_9423 . obo:DOID_9905 oboInOwl:hasDbXref "ICD10CM:L65.2"^^xsd:string, "MESH:D000507"^^xsd:string, "NCI:C82859"^^xsd:string, "SNOMEDCT_US_2021_03_01:201150001"^^xsd:string, "UMLS_CUI:C0002173"^^xsd:string ; oboInOwl:hasExactSynonym "Alopecia mucinosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9905"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "follicular mucinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9098 . obo:DOID_9908 oboInOwl:hasDbXref "ICD10CM:H00.02"^^xsd:string, "ICD9CM:373.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:397514009"^^xsd:string, "UMLS_CUI:C0085690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9908"^^xsd:string ; a owl:Class ; rdfs:label "internal hordeolum"^^xsd:string ; rdfs:subClassOf obo:DOID_9909 . obo:DOID_9909 obo:IAO_0000115 "Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H00.01"^^xsd:string, "MESH:D006726"^^xsd:string, "NCI:C118722"^^xsd:string, "SNOMEDCT_US_2021_03_01:74612003"^^xsd:string, "UMLS_CUI:C0019917"^^xsd:string ; oboInOwl:hasExactSynonym "Boil of eyelid"@en, "Furuncle of eyelid"@en, "Stye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9909"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hordeolum"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_9910 obo:IAO_0000115 "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.01"^^xsd:string, "ICD9CM:370.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:193761009"^^xsd:string, "UMLS_CUI:C0155069"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9910"^^xsd:string ; a owl:Class ; rdfs:label "central corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_9911 oboInOwl:hasDbXref "ICD10CM:N43.1"^^xsd:string, "ICD9CM:603.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:11666007"^^xsd:string, "UMLS_CUI:C0156300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9911"^^xsd:string ; a owl:Class ; rdfs:label "infected hydrocele"^^xsd:string ; rdfs:subClassOf obo:DOID_9912 . obo:DOID_9912 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9912"^^xsd:string ; a owl:Class ; rdfs:label "hydrocele"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_9913 oboInOwl:hasExactSynonym "metastatic malignant tumor to the Axilla"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9913"^^xsd:string ; a owl:Class ; rdfs:label "obsolete axillary metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_9915 oboInOwl:hasExactSynonym "Ca ribs/sternum/clavicle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9915"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of ribs, sternum and clavicle"^^xsd:string ; owl:deprecated true . obo:DOID_9916 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9916"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the chest wall"^^xsd:string ; owl:deprecated true . obo:DOID_9919 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of thoracic esophagus"^^xsd:string ; owl:deprecated true . obo:DOID_992 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum."^^xsd:string ; oboInOwl:hasDbXref "GARD:8254"^^xsd:string, "ICD10CM:A98.1"^^xsd:string, "ICD9CM:065.1"^^xsd:string, "MESH:D006481"^^xsd:string, "SNOMEDCT_US_2021_03_01:48113006"^^xsd:string, "UMLS_CUI:C0019103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:992"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Omsk hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_12542 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34619 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6944 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_9923 obo:IAO_0000115 "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F82"^^xsd:string, "ICD9CM:315.4"^^xsd:string, "MESH:D019957"^^xsd:string, "NCI:C92561"^^xsd:string, "SNOMEDCT_US_2021_03_01:27544004"^^xsd:string, "UMLS_CUI:C0011757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "developmental coordination disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_9925 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9925"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperostosis frontalis interna"^^xsd:string ; owl:deprecated true . obo:DOID_9929 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9929"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_993 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:993"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Flavivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9930 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9930"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Neisseriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_9931 obo:IAO_0000115 "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12613"^^xsd:string ; oboInOwl:hasDbXref "GARD:9449"^^xsd:string, "MESH:D014884"^^xsd:string, "NCI:C85225"^^xsd:string, "SNOMEDCT_US_2021_03_01:267484005"^^xsd:string, "UMLS_CUI:C0043068"^^xsd:string ; oboInOwl:hasExactSynonym "Meningococcal hemorrhagic adrenalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9931"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Waterhouse-Friderichsen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ] . obo:DOID_9935 obo:IAO_0000115 "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04.4"^^xsd:string, "ICD9CM:375.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:193990009"^^xsd:string, "UMLS_CUI:C0155239"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9935"^^xsd:string ; a owl:Class ; rdfs:label "chronic inflammation of lacrimal passage"^^xsd:string ; rdfs:subClassOf obo:DOID_1400, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9936 oboInOwl:hasDbXref "ICD10CM:H04.42"^^xsd:string, "ICD9CM:375.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:26479009"^^xsd:string, "UMLS_CUI:C0155240"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9936"^^xsd:string ; a owl:Class ; rdfs:label "chronic canaliculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9935 . obo:DOID_9937 oboInOwl:hasDbXref "ICD10CM:H04.41"^^xsd:string, "ICD9CM:375.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:193990009"^^xsd:string, "UMLS_CUI:C0149506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9937"^^xsd:string ; a owl:Class ; rdfs:label "chronic dacryocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9938 . obo:DOID_9938 obo:IAO_0000115 "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04.30"^^xsd:string, "ICD9CM:375.30"^^xsd:string, "MESH:D003607"^^xsd:string, "NCI:C34521"^^xsd:string, "SNOMEDCT_US_2021_03_01:267738004"^^xsd:string, "UMLS_CUI:C0010930"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9938"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dacryocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6970 . obo:DOID_9939 oboInOwl:hasDbXref "ICD9CM:375.43"^^xsd:string, "NCI:C98968"^^xsd:string, "SNOMEDCT_US_2021_03_01:42758002"^^xsd:string, "UMLS_CUI:C0155241"^^xsd:string ; oboInOwl:hasExactSynonym "lacrimal mucocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9939"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dacryocystocele"^^xsd:string ; rdfs:subClassOf obo:DOID_9935 . obo:DOID_9940 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9940"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_9942 oboInOwl:hasDbXref "NCI:C35346"^^xsd:string, "SNOMEDCT_US_2021_03_01:76616003"^^xsd:string, "UMLS_CUI:C0272394"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9942"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymph node disease"^^xsd:string ; rdfs:subClassOf obo:DOID_75 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] ) ] . obo:DOID_9943 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9943"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic episcleritis"^^xsd:string ; owl:deprecated true . obo:DOID_9945 oboInOwl:hasDbXref "ICD10CM:H05.24"^^xsd:string, "ICD9CM:376.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:194015008"^^xsd:string, "UMLS_CUI:C0155267"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9945"^^xsd:string ; a owl:Class ; rdfs:label "constant exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_9946 obo:IAO_0000115 "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:1654001"^^xsd:string, "UMLS_CUI:C0339578"^^xsd:string ; oboInOwl:hasExactSynonym "Corticosteroid-induced glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9946"^^xsd:string ; a owl:Class ; rdfs:label "steroid-induced glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_9948 oboInOwl:hasDbXref "ICD9CM:365.32"^^xsd:string, "SNOMEDCT_US_2021_03_01:193549003"^^xsd:string, "UMLS_CUI:C0339580"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9948"^^xsd:string ; a owl:Class ; rdfs:label "residual stage corticosteroid-induced glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9946 . obo:DOID_9952 obo:IAO_0000115 "A acute leukemia that is characterized by over production of lymphoblasts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5600"^^xsd:string ; oboInOwl:hasDbXref "EFO:0000220"^^xsd:string, "GARD:522"^^xsd:string, "ICD10CM:C91.00"^^xsd:string, "ICD9CM:204.0"^^xsd:string, "NCI:C3167"^^xsd:string, "NCI:C7055"^^xsd:string, "OMIM:247640"^^xsd:string, "OMIM:613065"^^xsd:string, "ORDO:513"^^xsd:string, "SNOMEDCT_US_2021_03_01:128822004"^^xsd:string, "UMLS_CUI:C0023449"^^xsd:string, "UMLS_CUI:C1335469"^^xsd:string ; oboInOwl:hasExactSynonym "ALL"^^xsd:string, "acute lymphoblastic leukaemia"@en, "acute lymphoblastic leukemia"@en, "acute lymphocytic leukaemia"@en, "precursor lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9952"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "acute lymphoblastic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_12603 . obo:DOID_9953 obo:IAO_0000115 "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C95.0"^^xsd:string, "MESH:D015456"^^xsd:string, "NCI:C4673"^^xsd:string, "SNOMEDCT_US_2021_03_01:128818009"^^xsd:string, "UMLS_CUI:C0023464"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9953"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed phenotype acute leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_12603, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000084 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ] ) ] . obo:DOID_9954 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:277574007"^^xsd:string, "UMLS_CUI:C0023483"^^xsd:string ; oboInOwl:hasExactSynonym "Null cell acute lymphoblastic leukaemia"@en, "Null cell acute lymphoblastic leukemia"@en, "null-cell leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9954"^^xsd:string ; a owl:Class ; rdfs:label "null-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9952 . obo:DOID_9955 obo:IAO_0000115 "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart."^^xsd:string ; oboInOwl:hasDbXref "GARD:6739"^^xsd:string, "ICD10CM:Q23.4"^^xsd:string, "ICD9CM:746.7"^^xsd:string, "MESH:D018636"^^xsd:string, "NCI:C98894"^^xsd:string, "OMIM:241550"^^xsd:string, "OMIM:614435"^^xsd:string, "ORDO:2248"^^xsd:string, "SNOMEDCT_US_2021_03_01:62067003"^^xsd:string, "UMLS_CUI:C0152101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9955"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypoplastic left heart syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_9957 obo:IAO_0000115 "A connective tissue disease characterized by inflammation located_in the periosteum of the bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10894"^^xsd:string, "DOID:14496"^^xsd:string, "DOID:9956"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010522"^^xsd:string, "SNOMEDCT_US_2021_03_01:41910004"^^xsd:string, "UMLS_CUI:C0031111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9957"^^xsd:string ; a owl:Class ; rdfs:label "periostitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_9958 obo:IAO_0000115 "A uterine disease that is characterized by the presence of blood in the uterine cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N85.7"^^xsd:string, "ICD9CM:621.4"^^xsd:string, "MESH:D006409"^^xsd:string, "SNOMEDCT_US_2021_03_01:38280009"^^xsd:string, "UMLS_CUI:C0018948"^^xsd:string ; oboInOwl:hasExactSynonym "Hematometra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9958"^^xsd:string ; a owl:Class ; rdfs:label "hemometra"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_9965 obo:IAO_0000115 "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13334"^^xsd:string, "DOID:13339"^^xsd:string, "DOID:13344"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B58"^^xsd:string, "ICD9CM:130"^^xsd:string, "MESH:D014123"^^xsd:string, "NCI:C3418"^^xsd:string, "SNOMEDCT_US_2021_03_01:266225001"^^xsd:string, "UMLS_CUI:C0040558"^^xsd:string ; oboInOwl:hasExactSynonym "disseminated toxoplasmosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9965"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "toxoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5811 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_9969 obo:IAO_0000115 "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E67.1"^^xsd:string, "ICD9CM:278.3"^^xsd:string, "NCI:C26963"^^xsd:string, "OMIM:115300"^^xsd:string, "SNOMEDCT_US_2021_03_01:35487009"^^xsd:string, "UMLS_CUI:C0154271"^^xsd:string ; oboInOwl:hasExactSynonym "hypercarotinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9969"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "carotenemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_997 obo:IAO_0000115 "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N85.5"^^xsd:string, "ICD9CM:665.2"^^xsd:string, "MESH:D019687"^^xsd:string, "SNOMEDCT_US_2021_03_01:156233003"^^xsd:string, "UMLS_CUI:C0162482"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:997"^^xsd:string ; a owl:Class ; rdfs:label "uterine inversion"^^xsd:string ; rdfs:subClassOf obo:DOID_345 ; skos:exactMatch "MESH:D019687"^^xsd:string . obo:DOID_9970 obo:IAO_0000115 "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001073"^^xsd:string, "ICD10CM:E66.9"^^xsd:string, "ICD9CM:278.00"^^xsd:string, "MESH:D009765"^^xsd:string, "NCI:C159658"^^xsd:string, "OMIM:601665"^^xsd:string, "SNOMEDCT_US_2021_03_01:5476005"^^xsd:string, "UMLS_CUI:C0028754"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9970"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obesity"^^xsd:string ; rdfs:subClassOf obo:DOID_654 . obo:DOID_9971 obo:IAO_0000115 "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E67.3"^^xsd:string, "ICD9CM:278.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:190969000"^^xsd:string, "UMLS_CUI:C1442839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9971"^^xsd:string ; a owl:Class ; rdfs:label "hypervitaminosis D"^^xsd:string ; rdfs:subClassOf obo:DOID_654, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ] . obo:DOID_9972 obo:IAO_0000115 "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E67.0"^^xsd:string, "ICD9CM:278.2"^^xsd:string, "MESH:D006986"^^xsd:string, "SNOMEDCT_US_2021_03_01:64559002"^^xsd:string, "UMLS_CUI:C0020579"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9972"^^xsd:string ; a owl:Class ; rdfs:label "hypervitaminosis A"^^xsd:string ; rdfs:subClassOf obo:DOID_654, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] . obo:DOID_9973 obo:IAO_0000115 "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35458"^^xsd:string, "SNOMEDCT_US_2021_03_01:255338002"^^xsd:string, "UMLS_CUI:C0439857"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9973"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "substance dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_303 . obo:DOID_9974 obo:IAO_0000115 "A substance dependence that involves the continued use of drugs despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:304.60"^^xsd:string, "SNOMEDCT_US_2021_03_01:191860009"^^xsd:string, "UMLS_CUI:C0029792"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9974"^^xsd:string ; a owl:Class ; rdfs:label "drug dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9973 . obo:DOID_9975 obo:IAO_0000115 "A drug dependence that is a psychological dependency on the regular use of cocaine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F14.2"^^xsd:string, "ICD9CM:304.2"^^xsd:string, "MESH:D019970"^^xsd:string, "NCI:C34492"^^xsd:string, "SNOMEDCT_US_2021_03_01:286934009"^^xsd:string, "UMLS_CUI:C0600427"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9975"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cocaine dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9974 . obo:DOID_9976 obo:IAO_0000115 "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006556"^^xsd:string, "NCI:C34694"^^xsd:string, "SNOMEDCT_US_2021_03_01:191817000"^^xsd:string, "UMLS_CUI:C0019337"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heroin dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_2559 . obo:DOID_9977 obo:IAO_0000115 "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F16.2"^^xsd:string, "ICD9CM:304.5"^^xsd:string, "NCI:C34657"^^xsd:string, "SNOMEDCT_US_2021_03_01:191847003"^^xsd:string, "UMLS_CUI:C0018528"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9977"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hallucinogen dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9974 . obo:DOID_9978 oboInOwl:hasDbXref "ICD10CM:N73.3"^^xsd:string, "ICD9CM:614.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:85051008"^^xsd:string, "UMLS_CUI:C0269032"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9978"^^xsd:string ; a owl:Class ; rdfs:label "acute female pelvic peritonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1003 . obo:DOID_998 obo:IAO_0000115 "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration."^^xsd:string ; oboInOwl:hasDbXref "GARD:6345"^^xsd:string, "ICD9CM:710.5"^^xsd:string, "MESH:D016603"^^xsd:string, "SNOMEDCT_US_2021_03_01:95416007"^^xsd:string, "UMLS_CUI:C0085179"^^xsd:string ; oboInOwl:hasExactSynonym "Eosinophilia myalgia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:998"^^xsd:string ; a owl:Class ; rdfs:label "eosinophilia-myalgia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_999 . obo:DOID_9986 obo:IAO_0000115 "An orbital cancer that has _material_basis_in some lymphocyte."^^xsd:string ; oboInOwl:hasDbXref "GARD:9719"^^xsd:string, "MESH:C537131"^^xsd:string, "NCI:C6244"^^xsd:string, "SNOMEDCT_US_2021_03_01:13048006"^^xsd:string, "UMLS_CUI:C0271333"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9986"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbit lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_4143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_9987 obo:IAO_0000115 "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6095"^^xsd:string, "SNOMEDCT_US_2021_03_01:699354006"^^xsd:string, "UMLS_CUI:C1335131"^^xsd:string ; oboInOwl:hasExactSynonym "orbital sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9987"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbit sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_4143, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_9988 obo:IAO_0000115 "A tertiary syphilis that results in infection located in brain or located in spinal cord."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A52.3"^^xsd:string, "ICD9CM:094"^^xsd:string, "MESH:D009494"^^xsd:string, "NCI:C84935"^^xsd:string, "SNOMEDCT_US_2021_03_01:154384001"^^xsd:string, "UMLS_CUI:C0027927"^^xsd:string ; oboInOwl:hasExactSynonym "late neurosyphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9988"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "tertiary neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_8200, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8200 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_9989 oboInOwl:hasExactSynonym "metastatic tumor to the orbit"@en, "secondary malignant neoplasm of orbit (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9989"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to the orbit"^^xsd:string ; owl:deprecated true . obo:DOID_999 obo:IAO_0000115 "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:2804"^^xsd:string, "ICD10CM:D72.1"^^xsd:string, "ICD9CM:288.3"^^xsd:string, "MESH:D004802"^^xsd:string, "ORDO:168956"^^xsd:string, "SNOMEDCT_US_2021_03_01:418928000"^^xsd:string, "UMLS_CUI:C0014457"^^xsd:string ; oboInOwl:hasExactSynonym "Eosinophilic leukocytosis"@en, "eosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:999"^^xsd:string ; a owl:Class ; rdfs:label "hypereosinophilic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9500 . obo:DOID_9993 obo:IAO_0000115 "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E16.2"^^xsd:string, "ICD9CM:251.2"^^xsd:string, "MESH:D007003"^^xsd:string, "NCI:C3126"^^xsd:string, "SNOMEDCT_US_2021_03_01:154691006"^^xsd:string, "UMLS_CUI:C0020615"^^xsd:string ; oboInOwl:hasExactSynonym "Hypoglycaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9993"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoglycemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4194, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011015 ] . obo:DOID_9995 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9995"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endocrine and metabolic disturbances specific to the fetus and newborn"^^xsd:string ; owl:deprecated true . obo:DOID_9997 obo:IAO_0000115 "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11697"^^xsd:string, "DOID:11980"^^xsd:string ; oboInOwl:hasDbXref "GARD:220"^^xsd:string, "ICD10CM:O90.3"^^xsd:string, "ICD9CM:674.5"^^xsd:string, "NCI:C171602"^^xsd:string, "SNOMEDCT_US_2021_03_01:16253001"^^xsd:string, "UMLS_CUI:C0877208"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum peripartum cardiomyopathy"@en, "postpartum peripartum cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:9997"^^xsd:string ; a owl:Class ; rdfs:label "peripartum cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:IAO_0000115 a owl:AnnotationProperty . obo:IAO_0000119 obo:IAO_0000115 "Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007."^^xsd:string ; a owl:AnnotationProperty ; rdfs:isDefinedBy ; rdfs:label "definition source"^^xsd:string . obo:IAO_0000231 obo:IAO_0000115 "Has obsolescence reason."^^xsd:string ; rdfs:label "has_obsolescence_reason"^^xsd:string . obo:IAO_0000700 obo:IAO_0000115 "Has ontology root term."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_ontology_root_term"^^xsd:string . obo:IDO_0000664 a owl:ObjectProperty ; rdfs:label "has material basis in"^^xsd:string . obo:IAO_0000115 "Relation defining child to partent inheritance type."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; a owl:ObjectProperty ; rdfs:label "is_a"^^xsd:string . obo:RO_0001000 obo:IAO_0000115 "Type of tissue or cell/the source of the material."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "RO:0001000"^^xsd:string ; a owl:ObjectProperty ; rdfs:label "derives_from"^^xsd:string . obo:RO_0002220 obo:IAO_0000115 "A spatial quality inhering in a bearer by virtue of the bearer's being located near in space in relation to another entity."^^xsd:string ; a owl:ObjectProperty ; rdfs:label "adjacent_to"@en ; rdfs:subPropertyOf owl:topObjectProperty . obo:RO_0002452 obo:IAO_0000115 "A relation that holds between a disease or an organism and a symptom. Symptom(s) associated with a disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "RO:0002452"^^xsd:string ; a owl:ObjectProperty ; rdfs:label "has_symptom"^^xsd:string . doid:DO_AGR_slim a owl:AnnotationProperty ; rdfs:comment "DO_AGR_slim"^^xsd:string ; rdfs:label "DO_AGR_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_FlyBase_slim a owl:AnnotationProperty ; rdfs:comment "DO_FlyBase_slim"^^xsd:string ; rdfs:label "DO_FlyBase_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_GXD_slim a owl:AnnotationProperty ; rdfs:comment "DO_GXD_slim"^^xsd:string ; rdfs:label "DO_GXD_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_IEDB_slim a owl:AnnotationProperty ; rdfs:comment "DO_IEDB_slim"^^xsd:string ; rdfs:label "DO_IEDB_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_MGI_slim a owl:AnnotationProperty ; rdfs:comment "DO_MGI_slim"^^xsd:string ; rdfs:label "DO_MGI_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_RAD_slim a owl:AnnotationProperty ; rdfs:comment "DO_RAD_slim"^^xsd:string ; rdfs:label "DO_RAD_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_cancer_slim a owl:AnnotationProperty ; rdfs:comment "DO_cancer_slim"^^xsd:string ; rdfs:label "DO_cancer_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:DO_rare_slim a owl:AnnotationProperty ; rdfs:comment "DO_rare_slim"^^xsd:string ; rdfs:label "DO_rare_slim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:GOLD a owl:AnnotationProperty ; rdfs:comment "GOLD"^^xsd:string ; rdfs:label "GOLD"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:NCIthesaurus a owl:AnnotationProperty ; rdfs:comment "NCIthesaurus"^^xsd:string ; rdfs:label "NCIthesaurus"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:TopNodes_DOcancerslim a owl:AnnotationProperty ; rdfs:comment "TopNodes_DOcancerslim"^^xsd:string ; rdfs:label "TopNodes_DOcancerslim"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:gram-negative_bacterial_infectious_disease a owl:AnnotationProperty ; rdfs:comment "gram-negative_bacterial_infectious_disease"^^xsd:string ; rdfs:label "gram-negative_bacterial_infectious_disease"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:gram-positive_bacterial_infectious_disease a owl:AnnotationProperty ; rdfs:comment "gram-positive_bacterial_infectious_disease"^^xsd:string ; rdfs:label "gram-positive_bacterial_infectious_disease"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:sexually_transmitted_infectious_disease a owl:AnnotationProperty ; rdfs:comment "sexually_transmitted_infectious_disease"^^xsd:string ; rdfs:label "sexually_transmitted_infectious_disease"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:tick-borne_infectious_disease a owl:AnnotationProperty ; rdfs:comment "tick-borne_infectious_disease"^^xsd:string ; rdfs:label "tick-borne_infectious_disease"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . doid:zoonotic_infectious_disease a owl:AnnotationProperty ; rdfs:comment "zoonotic_infectious_disease"^^xsd:string ; rdfs:label "zoonotic_infectious_disease"^^xsd:string ; rdfs:subPropertyOf oboInOwl:SubsetProperty . obo:IAO_0000700 obo:DOID_4 ; dc:description "The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts."^^xsd:string ; dc:title "Human Disease Ontology"^^xsd:string ; terms:license ; oboInOwl:date "17:08:2021 18:50"^^xsd:string ; oboInOwl:default-namespace "disease_ontology"^^xsd:string ; oboInOwl:hasOBOFormatVersion "1.2"^^xsd:string ; oboInOwl:saved-by "lschriml"^^xsd:string ; a owl:Ontology ; rdfs:comment "The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/)."^^xsd:string ; owl:imports ; owl:versionIRI . dc:date a owl:AnnotationProperty ; rdfs:label "dc:date"^^xsd:string . dc:description obo:IAO_0000115 "Description."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "description"^^xsd:string . dc:title obo:IAO_0000115 "Title."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "title"^^xsd:string . dc:type obo:IAO_0000115 "The dc:type."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "dc:type"^^xsd:string . terms:license obo:IAO_0000115 "License."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "license"^^xsd:string . oboInOwl:SubsetProperty obo:IAO_0000115 "Subset property, name of subet."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "subset_property"^^xsd:string . oboInOwl:auto-generated-by a owl:AnnotationProperty ; rdfs:label "auto-generated-by"^^xsd:string . oboInOwl:created_by obo:IAO_0000115 "Author of the class."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "created_by"^^xsd:string . oboInOwl:creation_date obo:IAO_0000115 "Date class was created."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "creation_date"^^xsd:string . oboInOwl:date obo:IAO_0000115 "Date."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "date"^^xsd:string . oboInOwl:default-namespace obo:IAO_0000115 "Default namespace."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "default-namespace"^^xsd:string . oboInOwl:hasAlternativeId obo:IAO_0000115 "ID of merged class."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_alternative_id"^^xsd:string . oboInOwl:hasBroadSynonym obo:IAO_0000115 "Broad synonym."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_broad_synonym"^^xsd:string . oboInOwl:hasDbXref obo:IAO_0000115 "Reference database or publication source."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "database_cross_reference"^^xsd:string . oboInOwl:hasExactSynonym obo:IAO_0000115 "Exact synonym."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_exact_synonym"^^xsd:string . oboInOwl:hasNarrowSynonym obo:IAO_0000115 "Narrow synonym."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_narrow_synonym"^^xsd:string . oboInOwl:hasOBOFormatVersion obo:IAO_0000115 "Has OBO format version."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_obo_format_version"^^xsd:string . oboInOwl:hasOBONamespace obo:IAO_0000115 "Name space of the ontology."^^xsd:string ; a owl:AnnotationProperty ; rdfs:comment "disease_ontology"^^xsd:string ; rdfs:label "has_obo_namespace"^^xsd:string . oboInOwl:hasRelatedSynonym obo:IAO_0000115 "Has related synonym."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has_related_synonym"^^xsd:string . oboInOwl:id obo:IAO_0000115 "An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "id"^^xsd:string . oboInOwl:inSubset obo:IAO_0000115 "In subset."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "in_subset"^^xsd:string . oboInOwl:saved-by obo:IAO_0000115 "Saved by."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "saved-by"^^xsd:string . rdfs:comment obo:IAO_0000115 "Comment."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "comment"^^xsd:string . rdfs:isDefinedBy obo:IAO_0000115 "Is defined by."^^xsd:string ; rdfs:label "rdfs:isDefinedBy"^^xsd:string . rdfs:label obo:IAO_0000115 "A human readable name for this class."^^xsd:string ; a owl:AnnotationProperty . rdfs:seeAlso obo:IAO_0000115 "See also."^^xsd:string ; rdfs:label "rdfs:seeAlso"^^xsd:string . owl:backwardCompatibleWith obo:IAO_0000115 "Backward compatible with."^^xsd:string ; rdfs:label "owl:backwardCompatibleWith"^^xsd:string . owl:deprecated obo:IAO_0000115 "OWL deprecated."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "owl:deprecated"^^xsd:string . owl:incompatibleWith obo:IAO_0000115 "Incompatible with."^^xsd:string ; rdfs:label "owl:incompatibleWith"^^xsd:string . owl:maxQualifiedCardinality obo:IAO_0000115 "Max qualified cardinality."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "owl:maxQualifiedCardinality"^^xsd:string . owl:minQualifiedCardinality obo:IAO_0000115 "Min qualified cardinality."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "owl:minQualifiedCardinality"^^xsd:string . owl:priorVersion obo:IAO_0000115 "Prior version."^^xsd:string ; rdfs:label "owl:priorVersion"^^xsd:string . owl:qualifiedCardinality obo:IAO_0000115 "Qualified cardinality."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "owl:qualifiedCardinality"^^xsd:string . owl:versionInfo obo:IAO_0000115 "Version info."^^xsd:string ; rdfs:label "owl:versionInfo"^^xsd:string . skos:broadMatch obo:IAO_0000115 "A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes)."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has broader match"^^xsd:string . skos:closeMatch obo:IAO_0000115 "A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has close match"^^xsd:string . skos:exactMatch obo:IAO_0000115 "A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has exact match"^^xsd:string . skos:narrowMatch obo:IAO_0000115 "A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has narrower match"^^xsd:string . skos:relatedMatch obo:IAO_0000115 "A skos concept mapping used to state an associative mapping link between two concepts."^^xsd:string ; a owl:AnnotationProperty ; rdfs:label "has related match"^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/iao.owl" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:IAO_0000119 ; owl:annotatedTarget "Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.org/dc/elements/1.1/date"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:date ; owl:annotatedTarget "Date."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14722918/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/1605226/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112151 ; owl:annotatedTarget "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22444671/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112152 ; owl:annotatedTarget "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32128616/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112153 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29408806/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112154 ; owl:annotatedTarget "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in CARD8 on chromosome 19q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29420262/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112155 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in INAVA on chromosome 1q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16783379/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22706301/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112156 ; owl:annotatedTarget "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12160730/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112157 ; owl:annotatedTarget "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10767341/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/2168777/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28491977/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112158 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32294086/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112159 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31972369/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112160 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in SCD5 on chromosome 4q21.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32721402/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112161 ; owl:annotatedTarget "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31175426/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112162 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in CLDN9 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30811583/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112163 ; owl:annotatedTarget "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32619401/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32681648/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112164 ; owl:annotatedTarget "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in DNAH8 on chromosome 6p21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29860631/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112165 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in PDE1C on chromosome 7p14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31231791/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112166 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in TRRAP on chromosome 7q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30872814/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31397523/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31432506/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112167 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in PLS1 on chromosome 3q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31273342/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112168 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in ABCC1 on chromosome 16p13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28289718/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112169 ; owl:annotatedTarget "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in MRAS on chromosome 3q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31130282/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31130285/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112170 ; owl:annotatedTarget "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in RRAS2 on chromosome 11p15.2."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18157129/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/4765201/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK5200/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112171 ; owl:annotatedTarget "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20630065/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112172 ; owl:annotatedTarget "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9845520/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112173 ; owl:annotatedTarget "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in GGCX on chromosome 2p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14765194/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112174 ; owl:annotatedTarget "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oropouche_fever"^^xsd:string, "url:http://www.cdc.gov/EID/content/13/6/912.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050521 ; owl:annotatedTarget "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32051257/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112175 ; owl:annotatedTarget "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32017041/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32673564/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112176 ; owl:annotatedTarget "An azoospermia characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32819397/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112177 ; owl:annotatedTarget "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16691591/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112178 ; owl:annotatedTarget "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/469663/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112179 ; owl:annotatedTarget "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19304569/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6107814/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112180 ; owl:annotatedTarget "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16826533/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20949531/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112181 ; owl:annotatedTarget "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in WNT7A on chromosome 3p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24737826/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/7661930/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112182 ; owl:annotatedTarget "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15863666/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112183 ; owl:annotatedTarget "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18042646/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112184 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9171822/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112185 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1401057/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112186 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus"^^xsd:string, "url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050522 ; owl:annotatedTarget "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17244789/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112187 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18434651/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112188 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12110737/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112189 ; owl:annotatedTarget "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32707087/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112190 ; owl:annotatedTarget "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/16283889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112191 ; owl:annotatedTarget "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14872406/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112192 ; owl:annotatedTarget "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16283889/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29769720/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112193 ; owl:annotatedTarget "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18553552/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25439729/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112194 ; owl:annotatedTarget "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in CKAP2L on chromosome 2q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15316962/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8723097/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112195 ; owl:annotatedTarget "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31406622/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8434618/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112196 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30358852/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112197 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10482874/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112198 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19277648/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22152677/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112199 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26669664/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112200 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33053334/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112201 ; owl:annotatedTarget "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28276062/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31926847/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112202 ; owl:annotatedTarget "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29630738/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112203 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28364549/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112204 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30343943/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112205 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in CACNA1E on chromosome 1q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30256902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112206 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in PHACTR1 on chromosome 6p24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30575854/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112207 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30323019/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112208 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in NEUROD2 on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21060839"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040031 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger diclofenac."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30595371/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112209 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27864268/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112210 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29915213/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112211 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31031012/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112212 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31148362/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112213 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29422393/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29961870/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112214 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29961870/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31056671/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112215 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in GABRA5 on chromosome 15q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31256876/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112216 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30237576/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31688942/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112217 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31820119/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112218 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma"^^xsd:string, "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050523 ; owl:annotatedTarget "A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32001716/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112219 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32427860/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112220 ; owl:annotatedTarget "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32330417/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112221 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31538237/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112222 ; owl:annotatedTarget "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32282878/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112223 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21549340/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22887726/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112224 ; owl:annotatedTarget "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7869202/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112225 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24462372/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112226 ; owl:annotatedTarget "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in NR2F1 on chromosome 5q15."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed-ncbi-nlm-nih-gov/31386652/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24860126/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112227 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24507697/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30471716/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112228 ; owl:annotatedTarget "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050524 ; owl:annotatedTarget "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32097630/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112229 ; owl:annotatedTarget "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in CEP85L on chromosome 6q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23472759/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25925986/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112230 ; owl:annotatedTarget "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25560765/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112231 ; owl:annotatedTarget "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17218254/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30744660/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112232 ; owl:annotatedTarget "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27773428/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112233 ; owl:annotatedTarget "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9588537/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112234 ; owl:annotatedTarget "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21529751/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21529752/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112235 ; owl:annotatedTarget "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25521378/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25521379/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112236 ; owl:annotatedTarget "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11754098/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/12668601/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112237 ; owl:annotatedTarget "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11891829/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/12379852/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112238 ; owl:annotatedTarget "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050526 ; owl:annotatedTarget "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9132485/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9489699/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112239 ; owl:annotatedTarget "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29198720/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112240 ; owl:annotatedTarget "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112241 ; owl:annotatedTarget "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112242 ; owl:annotatedTarget "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in TUBB on chromosome 6p21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112243 ; owl:annotatedTarget "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18439547/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112244 ; owl:annotatedTarget "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12764198/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112245 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in CD2AP on chromosome 6p12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23893049/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112246 ; owl:annotatedTarget "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in SUGCT on chromosome 7p14.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27479907/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29021403/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK536784/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112247 ; owl:annotatedTarget "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in CDK13 on chromosome 7p14.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/11158067/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8550739/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112248 ; owl:annotatedTarget "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25045128/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6507471/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112249 ; owl:annotatedTarget "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050528 ; owl:annotatedTarget "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10636167/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112250 ; owl:annotatedTarget "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/18264100/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3385529/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112251 ; owl:annotatedTarget "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/5476481/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/659603/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8896573/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112252 ; owl:annotatedTarget "A glutathione synthetase deficiency characterized by hemolitic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18463379/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112253 ; owl:annotatedTarget "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/16648851/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112254 ; owl:annotatedTarget "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/3384945/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112255 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTRR on chromosome 5p15.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/3384945/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8968737/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112256 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17334708/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112257 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12594532/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3139931/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112258 ; owl:annotatedTarget "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/7719343/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112259 ; owl:annotatedTarget "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10714363/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/11041448/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112260 ; owl:annotatedTarget "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11041448/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112261 ; owl:annotatedTarget "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15356046/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112262 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in SUR1 on chromosome 11p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21979934/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112263 ; owl:annotatedTarget "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19026396/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6876115/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112264 ; owl:annotatedTarget "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19033659/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112265 ; owl:annotatedTarget "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31472902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112266 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29058690/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112267 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33523862/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112268 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in NOS1AP on chromosome 1q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33508233/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112269 ; owl:annotatedTarget "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33508233/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112270 ; owl:annotatedTarget "An azoospermia characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32791035/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112271 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP58 on chromosome 10q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30042186/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112272 ; owl:annotatedTarget "An azoospermia characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in XRCC2 on chromosome 7q36.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32161152/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112273 ; owl:annotatedTarget "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP91 on chromosome 3q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33472045/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112274 ; owl:annotatedTarget "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in CFAP47 on chromosome Xp21.1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050529 ; owl:annotatedTarget "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29668857/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112275 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27068059/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28357411/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112276 ; owl:annotatedTarget "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of GNAO1 on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31781092/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/33471124/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112277 ; owl:annotatedTarget "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32845237/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112278 ; owl:annotatedTarget "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in HSF2BP on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33626338/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112279 ; owl:annotatedTarget "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in ACTL9 on chromosome 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://emedicine.medscape.com/article/1260836-overview"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/16080123/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112280 ; owl:annotatedTarget "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26183434/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6430256/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9592900/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112281 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16080123/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/1978986/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112282 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30046013/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112283 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3213464/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112284 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1353665/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3213464/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112285 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/414988/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112286 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17515304/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112287 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30804514/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112288 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8298734/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112289 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32533184/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/33668384/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112290 ; owl:annotatedTarget "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14755466/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112291 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/3612708/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112292 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19994087/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112293 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9557884/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112294 ; owl:annotatedTarget "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16752352/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112295 ; owl:annotatedTarget "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/3368247/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112296 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2343127/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29100092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112297 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24706940/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112298 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21910225/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26167768/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112299 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in CFAP410 on chromosome 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15326626/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24387990/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112300 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1870931/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9637426/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112301 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12457408/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112302 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29122926/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112303 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050530 ; owl:annotatedTarget "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24786642/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112304 ; owl:annotatedTarget "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12503112/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112305 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29702528/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112306 ; owl:annotatedTarget "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22825317/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/5936868/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112307 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23738509/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30086862/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112308 ; owl:annotatedTarget "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23738509/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112309 ; owl:annotatedTarget "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of MKRN3 chromosome 15q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18272894/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112310 ; owl:annotatedTarget "A central precocious puberty that has_material_basis_in heterozygous mutation in KISS1R on chromosome 19p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://n.neurology.org/content/85/8/658"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_070355 ; owl:annotatedTarget "A motor neuron disease that has material_basis_in some inheritance and affects muscle, bone, and the nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intestine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_100 ; owl:annotatedTarget "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/003291.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10003 ; owl:annotatedTarget "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bronchiolitis"^^xsd:string, "url:http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10007 ; owl:annotatedTarget "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK544282/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10011 ; owl:annotatedTarget "A thyroid gland cancer that has_material_basis_in lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string, "url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15965261"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10016 ; owl:annotatedTarget "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2457043"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040032 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger carbapenems."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1245/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/"^^xsd:string, "url:http://www.omim.org/entry/610444"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050534 ; owl:annotatedTarget "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25509899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10017 ; owl:annotatedTarget "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7511354"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1002 ; owl:annotatedTarget "An endometrial disease that is characterized by inflammation of the endometrium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25485917/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10020 ; owl:annotatedTarget "A duodenum cancer that is located_in the ampulla of Vater."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Duodenal_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10021 ; owl:annotatedTarget "A small intestine cancer that is located_in the beginning section of the small intestine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10022 ; owl:annotatedTarget "A biliary tract benign neoplasm that is located_in the ampulla of Vater."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Migraine"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10024 ; owl:annotatedTarget "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10027 ; owl:annotatedTarget "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050535 ; owl:annotatedTarget "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25992748"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1003 ; owl:annotatedTarget "A female reproductive system disease that is characterized by an infection of the female reproductive organs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us"^^xsd:string, "url:https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10030 ; owl:annotatedTarget "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pneumatosis"^^xsd:string, "url:https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10031 ; owl:annotatedTarget "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung."^^xsd:string . [] oboInOwl:hasDbXref "url:https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10032 ; owl:annotatedTarget "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cycloplegia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10033 ; owl:annotatedTarget "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/269000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050536 ; owl:annotatedTarget "A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aao.org/bcscsnippetdetail.aspx?id=0554ca9e-b088-4bfe-91ab-2fc77bb0ea67"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20582770"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10034 ; owl:annotatedTarget "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10035 ; owl:annotatedTarget "A tertiary neurosyphilis that results_in mild meningitis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Late_congenital_syphilis"^^xsd:string, "url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10039 ; owl:annotatedTarget "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10040 ; owl:annotatedTarget "A skin melanoma that arises from the upper or lower eyelid."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10041 ; owl:annotatedTarget "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27984232/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10044 ; owl:annotatedTarget "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050537 ; owl:annotatedTarget "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nodular_melanoma"^^xsd:string, "url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10047 ; owl:annotatedTarget "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=321367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10049 ; owl:annotatedTarget "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25100707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1005 ; owl:annotatedTarget "A uterine disease that is located_in the endometrium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://dermnetnz.org/topics/amelanotic-melanoma/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10054 ; owl:annotatedTarget "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://archotol.ama-assn.org/cgi/content/summary/40/4/261"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10066 ; owl:annotatedTarget "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10069 ; owl:annotatedTarget "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20737370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10070 ; owl:annotatedTarget "A laryngeal benign neoplasm that derives_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050538 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK562327/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10071 ; owl:annotatedTarget "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000724.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10073 ; owl:annotatedTarget "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hymenolepiasis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10074 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25098539"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050539 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diphyllobothrium"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10075 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cysticercosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10079 ; owl:annotatedTarget "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050540 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sparganosis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10080 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected."^^xsd:string . [] oboInOwl:hasDbXref "url:https://link.springer.com/article/10.1007/s10072-017-3109-0"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10081 ; owl:annotatedTarget "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/gastric-leiomyoma?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10087 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10095 ; owl:annotatedTarget "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050541 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/African_trypanosomiasis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs259/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10112 ; owl:annotatedTarget "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trypanosomiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10113 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10114 ; owl:annotatedTarget "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10116 ; owl:annotatedTarget "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10122 ; owl:annotatedTarget "An eyelid disease that is characterized by dark eyelids."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/skinpigmentationdisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10123 ; owl:annotatedTarget "A skin disease that is characterized by discoloration of the skin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050542 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10124 ; owl:annotatedTarget "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Corneal_hydrops"^^xsd:string, "url:https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10125 ; owl:annotatedTarget "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Keratoconus"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=keratoconus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10126 ; owl:annotatedTarget "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8584085/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10127 ; owl:annotatedTarget "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10128 ; owl:annotatedTarget "A vein disease that is characterized by impaired flow of blood through the veins."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/15723-vaginismus"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10131 ; owl:annotatedTarget "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16775371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050543 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Psychosexual_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10132 ; owl:annotatedTarget "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/articles/eye201417"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK431094/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10138 ; owl:annotatedTarget "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29498987/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10140 ; owl:annotatedTarget "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10149 ; owl:annotatedTarget "A bone cancer that is manifested in the long bones of the lower limb."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10150 ; owl:annotatedTarget "A malignant neoplasm that is manifested in the lower limb."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypermethioninemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050544 ; owl:annotatedTarget "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10151 ; owl:annotatedTarget "A bone cancer that is located in the short bones of lower limbs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582065/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10152 ; owl:annotatedTarget "An ileum cancer originating from Meckel's diverticulum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ileum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10153 ; owl:annotatedTarget "A small intestine cancer that is located_in the ileum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Situs_ambiguus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050545 ; owl:annotatedTarget "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Small_intestine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10154 ; owl:annotatedTarget "An intestinal cancer that is located_in the small intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intestine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10155 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the intestine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Avascular_necrosis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10159 ; owl:annotatedTarget "An ischemic bone disease that results_in necrosis located_in bone."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10183 ; owl:annotatedTarget "A lipoma that is located within the lumen of a bronchus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10184 ; owl:annotatedTarget "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/oesophageal-lipoma?lang=us"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10187 ; owl:annotatedTarget "A lipoma located in the esophagus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23600336"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10188 ; owl:annotatedTarget "A skin benign neoplasm that derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteomyelitis"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx"^^xsd:string, "url:http://www.mayoclinic.com/health/osteomyelitis/DS00759"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1019 ; owl:annotatedTarget "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10190 ; owl:annotatedTarget "A lipoma located in the liver."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10192 ; owl:annotatedTarget "A lipoma that is characterized by floret giant cells with overlapping nuclei."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26857660/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10193 ; owl:annotatedTarget "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10194 ; owl:annotatedTarget "A lipoma that is located in the kidney."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29222220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10195 ; owl:annotatedTarget "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10199 ; owl:annotatedTarget "A breast benign neoplasm that is composed of lipocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23919840"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10200 ; owl:annotatedTarget "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adrenal_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050546 ; owl:annotatedTarget "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10201 ; owl:annotatedTarget "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Axilla"^^xsd:string, "url:http://en.wikipedia.org/wiki/Lipoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10205 ; owl:annotatedTarget "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10206 ; owl:annotatedTarget "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string, "url:https://www.omim.org/entry/155240"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050547 ; owl:annotatedTarget "A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11103506/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10207 ; owl:annotatedTarget "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10208 ; owl:annotatedTarget "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10209 ; owl:annotatedTarget "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26304920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1022 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21532862"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040033 ; owl:annotatedTarget "A beta-lactam allergy that has_allergic_trigger piperacillin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/616488?search=616488&highlight=616488"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050548 ; owl:annotatedTarget "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatomyositis"^^xsd:string, "url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10223 ; owl:annotatedTarget "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction."^^xsd:string . [] oboInOwl:hasDbXref "MESH:C538250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_10223 ; owl:annotatedTarget "Amyopathic dermatomyositis"^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Borderline_leprosy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1023 ; owl:annotatedTarget "A leprosy that results in small numerous red irregularly shaped plaques."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16924162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10233 ; owl:annotatedTarget "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10237 ; owl:annotatedTarget "A malignant neoplasm that is manifested in the pelvic region."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leprosy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1024 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11283697"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10241 ; owl:annotatedTarget "A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ehrlichiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10242 ; owl:annotatedTarget "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleurisy"^^xsd:string, "url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10247 ; owl:annotatedTarget "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tuberculoid_leprosy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1025 ; owl:annotatedTarget "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Noonan_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050549 ; owl:annotatedTarget "A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15606630"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10250 ; owl:annotatedTarget "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pubmed/13361586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10263 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10264 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conduction_system_of_the_heart"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10273 ; owl:annotatedTarget "A cardiovascular system disease that involves the heart's electrical conduction system."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/970904-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10277 ; owl:annotatedTarget "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf"^^xsd:string, "url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21129723"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050553 ; owl:annotatedTarget "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=445079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10283 ; owl:annotatedTarget "A male reproductive organ cancer that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10286 ; owl:annotatedTarget "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23877521"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10287 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parotitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10301 ; owl:annotatedTarget "A parotid disease characterized by the inflammation of one or both parotid glands."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.org/viralzone/all_by_species/88.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10304 ; owl:annotatedTarget "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10305 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/home/sec06/ch095/ch095h.html"^^xsd:string, "url:http://www.merckmanuals.com/professional/sec14/ch193/ch193d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10307 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050554 ; owl:annotatedTarget "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10309 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Viral_meningitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10310 ; owl:annotatedTarget "A meningitis that has_material_basis_in a viral infection."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/5046780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10311 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/966678-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10312 ; owl:annotatedTarget "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10314 ; owl:annotatedTarget "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumoconiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10316 ; owl:annotatedTarget "An interstitial lung disease that is caused by the inhalation of dust."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050556 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Asbestosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10320 ; owl:annotatedTarget "A pneumoconiosis caused by inhalation and retention of asbestos fibers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Berylliosis"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10322 ; owl:annotatedTarget "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Silicosis"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10325 ; owl:annotatedTarget "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Caplan%27s_syndrome"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10326 ; owl:annotatedTarget "A pneumoconiosis that results_in humans that also have rheumatoid arthritis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10337 ; owl:annotatedTarget "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14223874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10349 ; owl:annotatedTarget "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1035 ; owl:annotatedTarget "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Breast_cyst"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10350 ; owl:annotatedTarget "A breast benign neoplasm that is characterized by a fluid-filled sac."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibrosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10352 ; owl:annotatedTarget "A breast benign neoplasm that has_material_basis in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10353 ; owl:annotatedTarget "A non-proliferative fibrocystic change of the breast that contains scar tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3511705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10354 ; owl:annotatedTarget "A breast benign neoplasm that has_material_basis in fibrous tissue and is characterized by the development of cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1036 ; owl:annotatedTarget "A leukemia that develops slowly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10368 ; owl:annotatedTarget "An epididymis cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=616067"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1037 ; owl:annotatedTarget "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Yaws"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs316/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10371 ; owl:annotatedTarget "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Amblyopia"^^xsd:string, "url:https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10376 ; owl:annotatedTarget "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/"^^xsd:string, "url:https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050557 ; owl:annotatedTarget "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pneumonic_plague"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10398 ; owl:annotatedTarget "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pathogenic_bacteria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_104 ; owl:annotatedTarget "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=346545"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1040 ; owl:annotatedTarget "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm"^^xsd:string, "url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10426 ; owl:annotatedTarget "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10435 ; owl:annotatedTarget "A suppurative otitis media with sudden onset and a short course."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Mooren%27s_Ulcer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10439 ; owl:annotatedTarget "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Fungal_Keratitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10440 ; owl:annotatedTarget "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, apergillus, fusarium, and rhizopus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10441 ; owl:annotatedTarget "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16693254"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10444 ; owl:annotatedTarget "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aao.org/eyenet/article/corneal-perforations"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10445 ; owl:annotatedTarget "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tonsillitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10456 ; owl:annotatedTarget "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Legionellosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10457 ; owl:annotatedTarget "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Legionellosis"^^xsd:string, "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10458 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10459 ; owl:annotatedTarget "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus."^^xsd:string . [] dc:type obo:ECO_0007641, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis"^^xsd:string, "url:http://www.merriam-webster.com/medical/nasopharyngitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10460 ; owl:annotatedTarget "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10472 ; owl:annotatedTarget "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050558 ; owl:annotatedTarget "A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10481 ; owl:annotatedTarget "A muscular disease that is located_in the diaphragm."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/"^^xsd:string, "url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm"^^xsd:string, "url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10487 ; owl:annotatedTarget "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dressler%27s_syndrome"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10507 ; owl:annotatedTarget "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8460135"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10508 ; owl:annotatedTarget "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10510 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec19/ch219/ch219c.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10516 ; owl:annotatedTarget "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otitis_externa"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10518 ; owl:annotatedTarget "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10519 ; owl:annotatedTarget "A otomycosis which is persistent and long-lasting or recurrent."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10520 ; owl:annotatedTarget "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10525 ; owl:annotatedTarget "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple \"heads\" or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10526 ; owl:annotatedTarget "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10527 ; owl:annotatedTarget "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10531 ; owl:annotatedTarget "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Streptococcus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10532 ; owl:annotatedTarget "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10533 ; owl:annotatedTarget "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Stomach"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10534 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17667569"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040034 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger rocuronium."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10535 ; owl:annotatedTarget "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10538 ; owl:annotatedTarget "A stomach cancer that is located_in the gastric fundus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050559 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coxsackievirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10545 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10550 ; owl:annotatedTarget "A otosalpingitis with a sudden onset and a short course."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10551 ; owl:annotatedTarget "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Encephalitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10554 ; owl:annotatedTarget "A central nervous system disease that involves encephalitis which occurs along with meningitis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22537582"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8164943"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10556 ; owl:annotatedTarget "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/lowe-syndrome"^^xsd:string, "url:https://www.omim.org/entry/309000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1056 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Yaws"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10564 ; owl:annotatedTarget "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050560 ; owl:annotatedTarget "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.who.int/neglected_diseases/diseases/yaws/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10567 ; owl:annotatedTarget "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/mediacentre/factsheets/fs316/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10568 ; owl:annotatedTarget "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteomalacia"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx"^^xsd:string, "url:http://www.mayoclinic.com/health/osteomalacia/DS00935"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/000376.htm"^^xsd:string, "url:http://www.wheelessonline.com/ortho/osteomalacia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10573 ; owl:annotatedTarget "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leukodystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10579 ; owl:annotatedTarget "A cerebral degeneration characterized by dysfunction of the white matter of the brain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10581 ; owl:annotatedTarget "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10584 ; owl:annotatedTarget "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10588 ; owl:annotatedTarget "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU"^^xsd:string, "url:https://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1059 ; owl:annotatedTarget "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills."^^xsd:string . [] dc:type obo:ECO_0007639 ; oboInOwl:hasDbXref "url:https://www.britannica.com/science/mild-preeclampsia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10590 ; owl:annotatedTarget "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pre-eclampsia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/preeclampsia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10591 ; owl:annotatedTarget "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.genome.gov/11009201"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10595 ; owl:annotatedTarget "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17426219"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_106 ; owl:annotatedTarget "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1060 ; owl:annotatedTarget "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050561 ; owl:annotatedTarget "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10600 ; owl:annotatedTarget "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/lactose-intolerance/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10604 ; owl:annotatedTarget "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/short-bowel-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10605 ; owl:annotatedTarget "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Blind_loop_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20572300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10606 ; owl:annotatedTarget "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/west-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24268986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050562 ; owl:annotatedTarget "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/"^^xsd:string, "url:http://en.wikipedia.org/wiki/Coeliac_disease"^^xsd:string, "url:http://www.celiac.org/"^^xsd:string, "url:http://www.mayoclinic.com/health/celiac-disease/DS00319"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10608 ; owl:annotatedTarget "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rickets"^^xsd:string, "url:http://www.mayoclinic.com/health/rickets/DS00813"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/000344.htm"^^xsd:string, "url:https://en.wikipedia.org/wiki/Rickets#Types"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26365554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10609 ; owl:annotatedTarget "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2017/0601/p717.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10612 ; owl:annotatedTarget "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10615 ; owl:annotatedTarget "An acute cervicitis that is caused by gonorrhea."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string, "url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050563 ; owl:annotatedTarget "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23606387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10616 ; owl:annotatedTarget "A cervicitis that is characterized by onset within the past 1 - 3 days."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10619 ; owl:annotatedTarget "A lymphatic system cancer that is located_in the lymph node."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fanconi_syndrome"^^xsd:string, "url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1062 ; owl:annotatedTarget "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Microphthalmia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10629 ; owl:annotatedTarget "An eye disease where one or both eyeballs are abnormally small."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wolfram_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10632 ; owl:annotatedTarget "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/cystinosis"^^xsd:string, "url:https://en.wikipedia.org/wiki/Cystinosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12110740"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1064 ; owl:annotatedTarget "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10646 ; owl:annotatedTarget "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease"^^xsd:string, "url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease"^^xsd:string, "url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10652 ; owl:annotatedTarget "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10660 ; owl:annotatedTarget "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1067 ; owl:annotatedTarget "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050564 ; owl:annotatedTarget "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Juvenile_open_angle_glaucoma"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1068 ; owl:annotatedTarget "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Separation_anxiety_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10685 ; owl:annotatedTarget "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Galactocele"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10686 ; owl:annotatedTarget "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Breast_hypertrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10688 ; owl:annotatedTarget "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25940456"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10690 ; owl:annotatedTarget "A breast disease characterized by painful infection of the breast tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10691 ; owl:annotatedTarget "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10699 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1070 ; owl:annotatedTarget "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050565 ; owl:annotatedTarget "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Giardiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10718 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10731 ; owl:annotatedTarget "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renal_failure"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1074 ; owl:annotatedTarget "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26140828"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10744 ; owl:annotatedTarget "A uterine adnexa cancer that is located_in the broad ligament."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otitis_media"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10754 ; owl:annotatedTarget "A otitis which involves inflammation of the middle ear."^^xsd:string . [] dc:type obo:ECO_0007640, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/petrositis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10755 ; owl:annotatedTarget "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypertension"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24352797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10763 ; owl:annotatedTarget "An artery disease characterized by chronic elevated blood pressure in the arteries."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050566 ; owl:annotatedTarget "A nonsyndromic deafness characterized by an X-linked inheritance mode."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spirurida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1077 ; owl:annotatedTarget "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bubonic_plague"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10773 ; owl:annotatedTarget "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27574633"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10779 ; owl:annotatedTarget "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chromadoria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1078 ; owl:annotatedTarget "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10780 ; owl:annotatedTarget "A polycythemia that_has_material_basis in factors intrinsic to red cell precursors."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10784 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26316242"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10787 ; owl:annotatedTarget "An ovarian dysfunction that is the loss of normal ovarian function before age 40."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jstor.org/stable/pdfplus/3277411.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1079 ; owl:annotatedTarget "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10790 ; owl:annotatedTarget "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10791 ; owl:annotatedTarget "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10792 ; owl:annotatedTarget "A maxillary sinusitis which lasts for 12 weeks or more."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10793 ; owl:annotatedTarget "A sphenoid sinusitis which lasts for 12 weeks or more."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10794 ; owl:annotatedTarget "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Filariasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1080 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mansonelliasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1081 ; owl:annotatedTarget "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nasal_cavity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10811 ; owl:annotatedTarget "A respiratory system cancer that is located_in the nasal cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10816 ; owl:annotatedTarget "A duodenum cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Dirofilariasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1082 ; owl:annotatedTarget "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10824 ; owl:annotatedTarget "A hypertension that is characterized by rapid onset of extremely high blood pressure."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Essential_hypertension"^^xsd:string, "url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10825 ; owl:annotatedTarget "A hypertension with no known cause. It is the most common type of hypertension."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/EasternEquineEncephalitis/index.html"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string, "url:http://www.ncagr.gov/vet/FactSheets/EEE.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10841 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13007862"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10842 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2434548"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040035 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger sulfasalazine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10843 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10844 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10845 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050567 ; owl:annotatedTarget "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trisomy-18"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1085 ; owl:annotatedTarget "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10852 ; owl:annotatedTarget "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10854 ; owl:annotatedTarget "A mouth disease located_in the salivary gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Macular_degeneration"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10871 ; owl:annotatedTarget "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Spina_bifida#Meningocele"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1088 ; owl:annotatedTarget "A spina bifida that is characterized by herniation of the meninges between the vertebrae."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050568 ; owl:annotatedTarget "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10881 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10882 ; owl:annotatedTarget "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Seckel_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050569 ; owl:annotatedTarget "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpangina"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10883 ; owl:annotatedTarget "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10887 ; owl:annotatedTarget "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypospadias"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=hypospadias"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10892 ; owl:annotatedTarget "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000074.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10902 ; owl:annotatedTarget "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Microcephaly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10907 ; owl:annotatedTarget "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050570 ; owl:annotatedTarget "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hydrocephalus"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=hydrocephalus"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10908 ; owl:annotatedTarget "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/toothdisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1091 ; owl:annotatedTarget "A mouth disease located_in the teeth."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10910 ; owl:annotatedTarget "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Echovirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10911 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amnesia"^^xsd:string, "url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10914 ; owl:annotatedTarget "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10915 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transsexualism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10919 ; owl:annotatedTarget "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10921 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sickle_cell_disease"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/sickle-cell-disease"^^xsd:string, "url:https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10923 ; owl:annotatedTarget "A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Borderline_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10930 ; owl:annotatedTarget "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dependent_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10931 ; owl:annotatedTarget "A personality disorder that is characterized by a pervasive psychological dependence on other people."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#default-namespace"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:default-namespace ; owl:annotatedTarget "Default namespace."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050571 ; owl:annotatedTarget "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10932 ; owl:annotatedTarget "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10933 ; owl:annotatedTarget "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10934 ; owl:annotatedTarget "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10935 ; owl:annotatedTarget "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10936 ; owl:annotatedTarget "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Impulse_control_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10937 ; owl:annotatedTarget "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10938 ; owl:annotatedTarget "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10939 ; owl:annotatedTarget "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1094 ; owl:annotatedTarget "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/tonguedisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10944 ; owl:annotatedTarget "A mouth disease located_in the tongue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nephritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10952 ; owl:annotatedTarget "A kidney disease that is characterized by an inflammation of the kidneys."^^xsd:string . [] oboInOwl:hasDbXref "url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050572 ; owl:annotatedTarget "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Strongyloidiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10955 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/216845-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10957 ; owl:annotatedTarget "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/14662995"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10958 ; owl:annotatedTarget "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs125/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10959 ; owl:annotatedTarget "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050573 ; owl:annotatedTarget "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10965 ; owl:annotatedTarget "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10967 ; owl:annotatedTarget "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10968 ; owl:annotatedTarget "A spastic cerebral palsy that affects only one limb."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hemiparesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10969 ; owl:annotatedTarget "A central nervous system disease that is characterized by the complete paralysis of half of the body."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty rdfs:comment ; owl:annotatedSource obo:DOID_1097 ; owl:annotatedTarget "Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://cerebralpalsygroup.com/cerebral-palsy/spastic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10970 ; owl:annotatedTarget "A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Oophoritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10974 ; owl:annotatedTarget "An ovarian disease that is characterized by inflammation of the ovary."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10978 ; owl:annotatedTarget "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10979 ; owl:annotatedTarget "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10980 ; owl:annotatedTarget "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alport_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10983 ; owl:annotatedTarget "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alpha_Thalassemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1099 ; owl:annotatedTarget "Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050574 ; owl:annotatedTarget "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10992 ; owl:annotatedTarget "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10993 ; owl:annotatedTarget "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_10997 ; owl:annotatedTarget "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Lens_(anatomy)"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_110 ; owl:annotatedTarget "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ovariandisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1100 ; owl:annotatedTarget "A female reproductive system disease that is located_in the ovary."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11037 ; owl:annotatedTarget "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Depersonalization_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11038 ; owl:annotatedTarget "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Felty%27s_syndrome"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11042 ; owl:annotatedTarget "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27206687/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11049 ; owl:annotatedTarget "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050575 ; owl:annotatedTarget "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bladder_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11054 ; owl:annotatedTarget "An urinary system cancer that results_in malignant growth located_in the urinary bladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pasteurellosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11055 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Placenta_previa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11060 ; owl:annotatedTarget "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Esophageal_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1107 ; owl:annotatedTarget "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050576 ; owl:annotatedTarget "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11076 ; owl:annotatedTarget "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11077 ; owl:annotatedTarget "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leech"^^xsd:string, "url:http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11079 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11080 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040036 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger tubocurarine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Perinatal_asphyxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11088 ; owl:annotatedTarget "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/12631900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11092 ; owl:annotatedTarget "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000254.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11093 ; owl:annotatedTarget "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://sti.bmj.com/cgi/reprint/4/4/290.pdf"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11097 ; owl:annotatedTarget "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sensenbrenner_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20817137/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050577 ; owl:annotatedTarget "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Q_fever"^^xsd:string, "url:http://www.cdc.gov/qfever/symptoms/index.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15021054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11100 ; owl:annotatedTarget "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trench_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11101 ; owl:annotatedTarget "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia/org/wiki/Bartonellosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11102 ; owl:annotatedTarget "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11103 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.iovs.org/content/41/2/513.full.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050578 ; owl:annotatedTarget "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11104 ; owl:annotatedTarget "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/136880"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11105 ; owl:annotatedTarget "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string, "url:http://en.wikipedia.org/wiki/Tourette%27s_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11119 ; owl:annotatedTarget "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11123 ; owl:annotatedTarget "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1658495"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1114 ; owl:annotatedTarget "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants"^^xsd:string, "url:https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11148 ; owl:annotatedTarget "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Aqueous_misdirection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11149 ; owl:annotatedTarget "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/Sarcoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45562"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1115 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Miliaria"^^xsd:string, "url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11153 ; owl:annotatedTarget "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypohidrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11155 ; owl:annotatedTarget "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypohidrosis"^^xsd:string, "url:https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11156 ; owl:annotatedTarget "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613507"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050579 ; owl:annotatedTarget "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pertussis"^^xsd:string, "url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1116 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26781405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11161 ; owl:annotatedTarget "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Respiratory_failure"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11162 ; owl:annotatedTarget "A lung disease characterized by inadequate gas exchange by the respiratory system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wart"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11165 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28964706/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11166 ; owl:annotatedTarget "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/781735-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11167 ; owl:annotatedTarget "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Milroy%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050580 ; owl:annotatedTarget "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11168 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/781735-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11169 ; owl:annotatedTarget "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/781735-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11170 ; owl:annotatedTarget "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/781735-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11171 ; owl:annotatedTarget "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/781735-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11172 ; owl:annotatedTarget "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11179 ; owl:annotatedTarget "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11180 ; owl:annotatedTarget "A otitis media which involves transudation of fluid in the middle ear without pus formation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11181 ; owl:annotatedTarget "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11182 ; owl:annotatedTarget "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/934264"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11186 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://bjo.bmj.com/content/55/5/312.full.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9400798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11190 ; owl:annotatedTarget "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Syndactyly"^^xsd:string, "url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm"^^xsd:string, "url:http://www.wheelessonline.com/ortho/syndactyly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11193 ; owl:annotatedTarget "A synostosis that results_in the fusion of two or more digits."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11195 ; owl:annotatedTarget "An upper respiratory tract disease which involves inflammation of both larynx and pharynx."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/1998/0215/p735.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11197 ; owl:annotatedTarget "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge."^^xsd:string . [] dc:type obo:ECO_0007643, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11198 ; owl:annotatedTarget "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypoparathyroidism"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11199 ; owl:annotatedTarget "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/T_cell_deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18755723"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11200 ; owl:annotatedTarget "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parathyroid_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11201 ; owl:annotatedTarget "An endocrine system disease that is located_in the parathyroid gland."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11202 ; owl:annotatedTarget "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11204 ; owl:annotatedTarget "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opioid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11206 ; owl:annotatedTarget "A substance abuse that involves the recurring use of opioid drugs despite negative consequences."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1135/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11211 ; owl:annotatedTarget "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1135/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11212 ; owl:annotatedTarget "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brachydactyly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050581 ; owl:annotatedTarget "A dysostosis characterized by short fingers and toes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/1998/0215/p735.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11213 ; owl:annotatedTarget "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material basis in Hemophilius Aegypticus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ajo.com/article/S0002-9394(21)90838-9/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11219 ; owl:annotatedTarget "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31437386"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050584 ; owl:annotatedTarget "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11227 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11231 ; owl:annotatedTarget "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11232 ; owl:annotatedTarget "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11233 ; owl:annotatedTarget "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Tenonitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11234 ; owl:annotatedTarget "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11235 ; owl:annotatedTarget "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vermiform_appendix"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11239 ; owl:annotatedTarget "A intestinal cancer that is located_in the appendix."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn"^^xsd:string, "url:https://medlineplus.gov/ency/article/007320.htm"^^xsd:string, "url:https://www.cdc.gov/ncbddd/vitamink/facts.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11249 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epidemic_typhus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11254 ; owl:annotatedTarget "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Typhus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11256 ; owl:annotatedTarget "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Social_phobia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11257 ; owl:annotatedTarget "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050585 ; owl:annotatedTarget "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cat_scratch_disease"^^xsd:string, "url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11258 ; owl:annotatedTarget "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cytomegalovirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11259 ; owl:annotatedTarget "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rabies"^^xsd:string, "url:http://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11260 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Trichotillomania"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050587 ; owl:annotatedTarget "An impulse control disorder that involves the uncontrollable plucking of ones hair."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Psittacosis"^^xsd:string, "url:http://www.nyc.gov/html/doh/html/cd/cdpsit.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11262 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chlamydia_infection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11263 ; owl:annotatedTarget "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trachoma"^^xsd:string, "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm"^^xsd:string, "url:http://www.who.int/blindness/causes/priority/en/index2.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11265 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm"^^xsd:string, "url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11266 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1991925"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040037 ; owl:annotatedTarget "A beta-lactam allergy that has_allergic_trigger aztreonam."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613155"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050588 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm"^^xsd:string, "url:http://www.journals.uchicago.edu/doi/pdf/10.1086/313502"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10428629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11285 ; owl:annotatedTarget "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11289 ; owl:annotatedTarget "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arteriovenous_malformation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11294 ; owl:annotatedTarget "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050589 ; owl:annotatedTarget "An intestinal disease characterized by inflammation located in all parts of digestive tract."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Swimmer%27s_itch"^^xsd:string, "url:https://www.cdc.gov/parasites/swimmersitch/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11302 ; owl:annotatedTarget "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1945308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11314 ; owl:annotatedTarget "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/eid/content/13/11/1647.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11315 ; owl:annotatedTarget "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11320 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schizophreniform_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11328 ; owl:annotatedTarget "A psychotic disorder that involves schizophrenia symptoms over time period of one month."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ainhum"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11329 ; owl:annotatedTarget "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sarcoidosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=sarcoidosis"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11335 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhinoscleroma"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11336 ; owl:annotatedTarget "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fusobacterium_necrophorum"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11337 ; owl:annotatedTarget "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tetanus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11338 ; owl:annotatedTarget "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17133096"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050590 ; owl:annotatedTarget "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections."^^xsd:string . [] dc:type obo:ECO_0007640, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11339 ; owl:annotatedTarget "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11340 ; owl:annotatedTarget "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fungal_infection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11341 ; owl:annotatedTarget "A lung disease that is a mycosis caused by fungal growth in the lungs."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11343 ; owl:annotatedTarget "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypodontia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050591 ; owl:annotatedTarget "A tooth disease characterized by failure to develop on or more missing teeth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pappataci_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11360 ; owl:annotatedTarget "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Megacolon"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11372 ; owl:annotatedTarget "A colonic disease that is characterized by an abnormal dilation of the colon."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050592 ; owl:annotatedTarget "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11379 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Expressive_language_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11385 ; owl:annotatedTarget "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11387 ; owl:annotatedTarget "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Subdural_empyema"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11389 ; owl:annotatedTarget "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11394 ; owl:annotatedTarget "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11357010/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11396 ; owl:annotatedTarget "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_114 ; owl:annotatedTarget "A cardiovascular system disease that involves the heart."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf"^^xsd:string, "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11404 ; owl:annotatedTarget "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diphtheria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11405 ; owl:annotatedTarget "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050593 ; owl:annotatedTarget "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11418 ; owl:annotatedTarget "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11424 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endosalpingiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11427 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17689125"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050594 ; owl:annotatedTarget "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11428 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11429 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11430 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11431 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11432 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000874.htm"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11450 ; owl:annotatedTarget "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/brain_compression"^^xsd:string, "url:https://en.wikipedia.org/wiki/Brain_herniation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11457 ; owl:annotatedTarget "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteoporosis"^^xsd:string, "url:http://www.mayoclinic.com/health/osteoporosis/DS00128"^^xsd:string, "url:http://www.niams.nih.gov/Health_Info/Bone/default.asp"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11476 ; owl:annotatedTarget "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polydactyly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1148 ; owl:annotatedTarget "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemopericardium"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11482 ; owl:annotatedTarget "A pericardial effusion that results from blood in the pericardial sac."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nyctalopia"^^xsd:string, "url:https://en.wikipedia.org/wiki/Vitamin_A_deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25804276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11491 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiac_tamponade"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_115 ; owl:annotatedTarget "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11506 ; owl:annotatedTarget "A otitis media which involves inflammation of the middle ear with infected effusion containing pus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Taeniasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050596 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rumination_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11507 ; owl:annotatedTarget "An eating disorder that is characterized by effortless regurgitation of most meals following consumption."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string, "url:http://en.wikipedia.org/wiki/Hypertensive_heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11516 ; owl:annotatedTarget "A heart disease that is caused by high blood pressure."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch178/ch178g.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11523 ; owl:annotatedTarget "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adie_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11549 ; owl:annotatedTarget "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11554 ; owl:annotatedTarget "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fuchs%27_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11555 ; owl:annotatedTarget "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11557 ; owl:annotatedTarget "A acute transudative otitis media with thin, watery and sterile effusion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11558 ; owl:annotatedTarget "A acute serous otitis media caused by an allergen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondrocalcinosis"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx"^^xsd:string, "url:http://www.mayoclinic.com/health/pseudogout/DS00717"^^xsd:string, "url:http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm"^^xsd:string, "url:http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1156 ; owl:annotatedTarget "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Retinal_vasculitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11563 ; owl:annotatedTarget "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11569 ; owl:annotatedTarget "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21877182"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11572 ; owl:annotatedTarget "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11573 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000607.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11574 ; owl:annotatedTarget "A bacterial meningitis that has_material_basis_in streptococcal bacteria."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11577 ; owl:annotatedTarget "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2012/0401/p716.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28260521"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11603 ; owl:annotatedTarget "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string, "url:http://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11607 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fungal_meningitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11608 ; owl:annotatedTarget "A meningitis that has_material_basis_in a fungal infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28791858"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20591140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11612 ; owl:annotatedTarget "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/pelvic_muscle_wasting"^^xsd:string, "url:https://urogyn.coloradowomenshealth.com/patients/library/pelvic-disorders-sexual-dysfunction"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11629 ; owl:annotatedTarget "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cicatricial_pemphigoid"^^xsd:string, "url:http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11656 ; owl:annotatedTarget "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm"^^xsd:string, "url:http://en.wikipedia.org/wiki/Palindromic_rheumatism"^^xsd:string, "url:http://www.palindromicrheumatism.org/"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1166 ; owl:annotatedTarget "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/190900"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2788922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11661 ; owl:annotatedTarget "A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vitiligo"^^xsd:string, "url:https://www.aafp.org/afp/1998/0601/p2695.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11668 ; owl:annotatedTarget "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11678 ; owl:annotatedTarget "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Onchocerciasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11680 ; owl:annotatedTarget "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11695 ; owl:annotatedTarget "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ep.bmjjournals.com/cgi/reprint/91/1/ep1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11699 ; owl:annotatedTarget "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23668298"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040038 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schistosomiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050597 ; owl:annotatedTarget "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heart_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_117 ; owl:annotatedTarget "A cardiovascular cancer located_in the heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11701 ; owl:annotatedTarget "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11702 ; owl:annotatedTarget "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11712 ; owl:annotatedTarget "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Diabetic_angiopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11713 ; owl:annotatedTarget "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26824237/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11714 ; owl:annotatedTarget "A diabetes mellitus that manifests during pregnancy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26280340/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11716 ; owl:annotatedTarget "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11717 ; owl:annotatedTarget "A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Antidepressant"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11718 ; owl:annotatedTarget "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/distal-myopathy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11720 ; owl:annotatedTarget "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myotonic_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string, "url:http://omim.org/entry/160900"^^xsd:string, "url:http://www.genome.gov/25521207"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1165/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11722 ; owl:annotatedTarget "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy"^^xsd:string, "url:http://omim.org/entry/300377"^^xsd:string, "url:http://www.genome.gov/19518854"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11723 ; owl:annotatedTarget "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050598 ; owl:annotatedTarget "A tuberculosis that occurs at body sites other than the lung."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1408/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11724 ; owl:annotatedTarget "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome"^^xsd:string, "url:http://www.omim.org/entry/122470"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11725 ; owl:annotatedTarget "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11726 ; owl:annotatedTarget "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050599 ; owl:annotatedTarget "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/lyme/transmission/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11729 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string, "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec19/ch279/ch279l.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11741 ; owl:annotatedTarget "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.3"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11746 ; owl:annotatedTarget "A uterine adnexa cancer that is located_in the parametrium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6043913"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11747 ; owl:annotatedTarget "A uterine cancer that is located_in the adnexa."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.20"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11748 ; owl:annotatedTarget "A uterine adnexa cancer that is located_in the round ligament."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pertussis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11750 ; owl:annotatedTarget "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30787536"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3390063"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11754 ; owl:annotatedTarget "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11758 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/ABCD_syndrome"^^xsd:string, "url:http://omim.org/entry/600501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050600 ; owl:annotatedTarget "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11685087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1176 ; owl:annotatedTarget "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/K%C3%B6hler_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11760 ; owl:annotatedTarget "An osteochondrosis that results_in death and collapse located_in navicular bone of foot."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11776 ; owl:annotatedTarget "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Astigmatism_%28eye%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11782 ; owl:annotatedTarget "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11797 ; owl:annotatedTarget "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pericardial_effusion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_118 ; owl:annotatedTarget "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11801 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050601 ; owl:annotatedTarget "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11812 ; owl:annotatedTarget "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ureter_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11819 ; owl:annotatedTarget "A urinary system cancer that is located_in the ureter."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK470565/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11823 ; owl:annotatedTarget "An acute kidney failure that is characterized by severe renal vasoconstriction."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/triple-a-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050602 ; owl:annotatedTarget "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23130232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11824 ; owl:annotatedTarget "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myopia"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=myopia"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11830 ; owl:annotatedTarget "A refractive error characterized by the inability to see farther objects clearly."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Club_foot"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17610748"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11836 ; owl:annotatedTarget "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11838 ; owl:annotatedTarget "A sarcoma and malignant neoplasm of penis that is located_in the penis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nephrotic_syndrome"^^xsd:string, "url:https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1184 ; owl:annotatedTarget "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/leprosy/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11851 ; owl:annotatedTarget "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000780.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1188 ; owl:annotatedTarget "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acheiropodia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050603 ; owl:annotatedTarget "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23894911"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11887 ; owl:annotatedTarget "An ureteral benign neoplasm that derives_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22647686"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11889 ; owl:annotatedTarget "A female breast cancer that is located_in the nipple and areola."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amoebozoa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11892 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16780468"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11893 ; owl:annotatedTarget "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/acanthamoeba/disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11896 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=523460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_119 ; owl:annotatedTarget "A female reproductive system cancer that is located_in the vagina."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/996092-overview"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/8126521"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11902 ; owl:annotatedTarget "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/labium_majus_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11905 ; owl:annotatedTarget "A vulva cancer that is located_in the labium majus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050604 ; owl:annotatedTarget "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tinea_cruris"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11917 ; owl:annotatedTarget "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peripheral_nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1192 ; owl:annotatedTarget "A nervous system cancer that is located in the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11920 ; owl:annotatedTarget "A respiratory system cancer that is located_in the trachea."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050605 ; owl:annotatedTarget "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9"^^xsd:string, "url:http://en.wikipedia.org/wiki/Head_and_neck_cancer"^^xsd:string, "url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=257519"^^xsd:string, "url:http://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11934 ; owl:annotatedTarget "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11943 ; owl:annotatedTarget "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11944 ; owl:annotatedTarget "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch194/ch194j.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11945 ; owl:annotatedTarget "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1945308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11964 ; owl:annotatedTarget "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20003787"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11968 ; owl:annotatedTarget "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Synostosis"^^xsd:string, "url:http://medical-dictionary.thefreedictionary.com/synostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11971 ; owl:annotatedTarget "A dysostosis that results_in abnormal fusing of adjacent bones."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Botulism"^^xsd:string, "url:https://en.wikipedia.org/wiki/Botulism"^^xsd:string, "url:https://www.cdc.gov/botulism/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11976 ; owl:annotatedTarget "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050606 ; owl:annotatedTarget "A keratosis that has_material_basis_in mutations in the ATP2A2 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Askin%27s_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050608 ; owl:annotatedTarget "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/prader-willi-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11983 ; owl:annotatedTarget "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11984 ; owl:annotatedTarget "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11990 ; owl:annotatedTarget "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteopoikilosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_11991 ; owl:annotatedTarget "An osteosclerosis that results_in numerous bone islands located_in skeleton."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia"^^xsd:string, "url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_120 ; owl:annotatedTarget "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12002 ; owl:annotatedTarget "A sarcoma and malignant tumor of trachea that is located_in the trachea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26066883"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12003 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the trachea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8711735"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040040 ; owl:annotatedTarget "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Streptococcus#Group_B"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11462195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12017 ; owl:annotatedTarget "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12019 ; owl:annotatedTarget "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conn%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12028 ; owl:annotatedTarget "An adrenal adenoma characterized by the over production of aldosterone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://eyewiki.aao.org/Sympathetic_Ophthalmia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12029 ; owl:annotatedTarget "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8577/panuveitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12030 ; owl:annotatedTarget "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergy"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1205 ; owl:annotatedTarget "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cryptococcosis"^^xsd:string, "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12052 ; owl:annotatedTarget "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cryptococcosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12053 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12054 ; owl:annotatedTarget "A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm"^^xsd:string, "url:https://medlineplus.gov/ency/article/001536.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1206 ; owl:annotatedTarget "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25345287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1209 ; owl:annotatedTarget "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rat_bite_fever"^^xsd:string, "url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12096 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050610 ; owl:annotatedTarget "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vaginal_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_121 ; owl:annotatedTarget "A female reproductive system disease that is located_in the vagina."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1210 ; owl:annotatedTarget "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000639.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12115 ; owl:annotatedTarget "A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27514591/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12117 ; owl:annotatedTarget "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brown_induration"^^xsd:string, "url:http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis"^^xsd:string, "url:http://www.erj.ersjournals.com/cgi/content/full/24/1/162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12118 ; owl:annotatedTarget "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemosiderosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12119 ; owl:annotatedTarget "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12120 ; owl:annotatedTarget "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Episcleritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12124 ; owl:annotatedTarget "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pica_%28disorder%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12128 ; owl:annotatedTarget "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bulimia_nervosa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12129 ; owl:annotatedTarget "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12132 ; owl:annotatedTarget "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12133 ; owl:annotatedTarget "A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemophilia_A"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12134 ; owl:annotatedTarget "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12139 ; owl:annotatedTarget "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chagas_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12140 ; owl:annotatedTarget "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/1168529-overview"^^xsd:string, "url:http://virology-online.com/viruses/Adenoviruses3.htm"^^xsd:string, "url:http://www.cdc.gov/meningitis/about/faq.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12141 ; owl:annotatedTarget "An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12148 ; owl:annotatedTarget "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12155 ; owl:annotatedTarget "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23622323"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12157 ; owl:annotatedTarget "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fascioloides_magna"^^xsd:string, "url:http://www.michigan.gov/dnr/1,1607,7-153-10370_12150_12220-26639--,00.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1217 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050611 ; owl:annotatedTarget "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.thyroid.org/patients/patient_brochures/goiter.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12176 ; owl:annotatedTarget "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Common_variable_immunodeficiency"^^xsd:string, "url:http://www.merck.com/mmpe/sec13/ch164/ch164g.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12177 ; owl:annotatedTarget "An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaPedis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12179 ; owl:annotatedTarget "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1218 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otosclerosis"^^xsd:string, "url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12185 ; owl:annotatedTarget "An otitis interna characterized by an abnormal bone growth in the middle ear."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1219 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/dengue/fAQFacts/index.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12205 ; owl:annotatedTarget "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640, obo:ECO_0007643, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf"^^xsd:string, "url:http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs117/en/"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12206 ; owl:annotatedTarget "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1221 ; owl:annotatedTarget "A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wuchereria_bancrofti"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12210 ; owl:annotatedTarget "A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cdc.gov/parasites/lymphaticfilariasis/index.html"^^xsd:string, "url:https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12211 ; owl:annotatedTarget "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medlineplus/oligohydramnios"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12215 ; owl:annotatedTarget "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12217 ; owl:annotatedTarget "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1222 ; owl:annotatedTarget "A connective tissue disease that is located_in cartilage."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gallbladder_cancer"^^xsd:string, "url:https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050612 ; owl:annotatedTarget "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis"^^xsd:string, "url:http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12236 ; owl:annotatedTarget "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Beta_thalassemia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31030806/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1426/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10395635"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12241 ; owl:annotatedTarget "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/299054-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12245 ; owl:annotatedTarget "A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions."^^xsd:string . [] dc:type obo:ECO_0007639 ; oboInOwl:hasDbXref "url:http://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12252 ; owl:annotatedTarget "An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12259 ; owl:annotatedTarget "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coloboma"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/coloboma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12270 ; owl:annotatedTarget "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aniridia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12271 ; owl:annotatedTarget "An iris disease that is characterized by a complete or partial absence of the colored part of the eye."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diphtheria"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch172/ch172c.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12275 ; owl:annotatedTarget "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs208/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12287 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paranoid_schizophrenia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1229 ; owl:annotatedTarget "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12294 ; owl:annotatedTarget "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12297 ; owl:annotatedTarget "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12302 ; owl:annotatedTarget "A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vitiligo"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12306 ; owl:annotatedTarget "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12308 ; owl:annotatedTarget "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12318 ; owl:annotatedTarget "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19272144"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12323 ; owl:annotatedTarget "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12328 ; owl:annotatedTarget "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cholangiocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050613 ; owl:annotatedTarget "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1234 ; owl:annotatedTarget "A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retroperitoneal_space"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12341 ; owl:annotatedTarget "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta"^^xsd:string, "url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051"^^xsd:string, "url:http://osteogenesisimperfecta.org/"^^xsd:string, "url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12347 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12357 ; owl:annotatedTarget "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12358 ; owl:annotatedTarget "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Graves_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12361 ; owl:annotatedTarget "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malaria"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12365 ; owl:annotatedTarget "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3349596"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040041 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger isocyanates."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Urethrocele"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12369 ; owl:annotatedTarget "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12375 ; owl:annotatedTarget "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12376 ; owl:annotatedTarget "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26022173"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12377 ; owl:annotatedTarget "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string, "url:http://en.wikipedia.org/wiki/Dysentery"^^xsd:string, "url:http://www.who.int/topics/dysentery/en/"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12384 ; owl:annotatedTarget "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12385 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14760781"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12386 ; owl:annotatedTarget "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/7178/nephrogenic-diabetes-insipidus/resources/1"^^xsd:string, "url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/nephrogenic_diabetes_insipidus.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12387 ; owl:annotatedTarget "A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12399 ; owl:annotatedTarget "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leukemia"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1240 ; owl:annotatedTarget "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Kleptomania"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12400 ; owl:annotatedTarget "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Intermittent_explosive_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12401 ; owl:annotatedTarget "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pyromania"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12402 ; owl:annotatedTarget "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12403 ; owl:annotatedTarget "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/787217-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12404 ; owl:annotatedTarget "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Globe_(human_eye)"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1242 ; owl:annotatedTarget "An eye disease that involves the globe of the eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10858385"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050614 ; owl:annotatedTarget "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13103721"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24113413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1243 ; owl:annotatedTarget "A vulva cancer that is located_in the labium minora."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aplastic_anemia"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12449 ; owl:annotatedTarget "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vulvar_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1245 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the vulva."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pancytopenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12450 ; owl:annotatedTarget "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1247 ; owl:annotatedTarget "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Capillariasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12474 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25672089"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_125 ; owl:annotatedTarget "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bell%27s_palsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12506 ; owl:annotatedTarget "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1251 ; owl:annotatedTarget "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12510 ; owl:annotatedTarget "An ischemia that is characterized by restriction in blood supply to the retina."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trichuriasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1252 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medical/bagassosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12522 ; owl:annotatedTarget "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Enoplia"^^xsd:string, "url:http://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1253 ; owl:annotatedTarget "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Von_Willebrand_disease"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12531 ; owl:annotatedTarget "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasAlternativeId"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasAlternativeId ; owl:annotatedTarget "ID of merged class."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050615 ; owl:annotatedTarget "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1254 ; owl:annotatedTarget "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/hepatitis/HAV/index.htm"^^xsd:string, "url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12549 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Strongylida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1255 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1367/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15728781"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12554 ; owl:annotatedTarget "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12556 ; owl:annotatedTarget "An acute kidney failure that is characterized by necrosis of epithelial tubule cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12559 ; owl:annotatedTarget "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12566 ; owl:annotatedTarget "A vulvar disease that is characterized by the presence of ulcers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12568 ; owl:annotatedTarget "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chagas_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12569 ; owl:annotatedTarget "A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aao.org/bcscsnippetdetail.aspx?id=985d9ea4-68cd-4743-a852-72cb8a1588bb"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12570 ; owl:annotatedTarget "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Lens_Induced_Glaucomas"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12571 ; owl:annotatedTarget "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12580 ; owl:annotatedTarget "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19243607"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12583 ; owl:annotatedTarget "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Potter_Syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Potter_sequence"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12594 ; owl:annotatedTarget "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acute_leukemia"^^xsd:string, "url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf"^^xsd:string, "url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12603 ; owl:annotatedTarget "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/13542104"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12608 ; owl:annotatedTarget "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/211587-overview"^^xsd:string, "url:http://www.scipub.org/fulltext/ajid/ajid43204-208.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12633 ; owl:annotatedTarget "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16442600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12637 ; owl:annotatedTarget "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pyloric_stenosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12638 ; owl:annotatedTarget "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Genitourinary_system"^^xsd:string, "url:http://en.wikipedia.org/wiki/Urogenital_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1265 ; owl:annotatedTarget "An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12662 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blastomycosis"^^xsd:string, "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12663 ; owl:annotatedTarget "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050619 ; owl:annotatedTarget "A respiratory system cancer that is located_in the paranasal sinuses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Corticobulbar_tract"^^xsd:string, "url:https://en.wikipedia.org/wiki/Pseudobulbar_palsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12680 ; owl:annotatedTarget "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom abnormal bulbar reflexes, and has_symptom emotional outbursts."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vestibular_neuritis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16448876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12683 ; owl:annotatedTarget "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12685 ; owl:annotatedTarget "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/locked-in-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12697 ; owl:annotatedTarget "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12698 ; owl:annotatedTarget "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050620 ; owl:annotatedTarget "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Leiomyoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_127 ; owl:annotatedTarget "A cell type benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1351/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1270 ; owl:annotatedTarget "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperprolactinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12700 ; owl:annotatedTarget "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12704 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Capillary#Pathophysiology"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1271 ; owl:annotatedTarget "A vascular disease that is located_in the capillaries."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm"^^xsd:string, "url:http://www.jstor.org/stable/pdfplus/4547765.pdf"^^xsd:string, "url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12710 ; owl:annotatedTarget "An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Black_piedra"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12711 ; owl:annotatedTarget "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12712 ; owl:annotatedTarget "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10700184"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12714 ; owl:annotatedTarget "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12716 ; owl:annotatedTarget "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14846362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12718 ; owl:annotatedTarget "A chronic salpingitis that is caused by gonorrhea."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12721 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1273 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12735 ; owl:annotatedTarget "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abominal wall."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8711735"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040042 ; owl:annotatedTarget "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12739 ; owl:annotatedTarget "A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways."^^xsd:string . [] oboInOwl:hasDbXref "url:http://expasy.org/viralzone/all_by_species/90.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1275 ; owl:annotatedTarget "A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/parasites/cyclosporiasis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12750 ; owl:annotatedTarget "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12763 ; owl:annotatedTarget "A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peritonsillar_abscess"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12765 ; owl:annotatedTarget "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009"^^xsd:string, "url:http://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12773 ; owl:annotatedTarget "A Kaposi's sarcoma that is located_in black Africans."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12779 ; owl:annotatedTarget "A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Migraine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12783 ; owl:annotatedTarget "A migraine that is characterized by migraine headaches that are not accompanied by an aura."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hallucinogen"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12797 ; owl:annotatedTarget "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Respiratory_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050621 ; owl:annotatedTarget "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12798 ; owl:annotatedTarget "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hunter_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12799 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12800 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12801 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12802 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII"^^xsd:string, "url:http://omim.org/entry/253220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12803 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Morquio_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12804 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12819 ; owl:annotatedTarget "A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8202302"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1283 ; owl:annotatedTarget "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2010/0501/p1111.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1284 ; owl:annotatedTarget "A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/996361-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12840 ; owl:annotatedTarget "An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ancylostomiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12841 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/gbs/gbs.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12842 ; owl:annotatedTarget "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autism"^^xsd:string, "url:http://www.neurodevnet.ca"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12849 ; owl:annotatedTarget "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Huntington_disease"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12858 ; owl:annotatedTarget "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chorea"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12859 ; owl:annotatedTarget "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Circulatory_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1287 ; owl:annotatedTarget "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypochondriasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12883 ; owl:annotatedTarget "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ornithosis"^^xsd:string, "url:http://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12888 ; owl:annotatedTarget "An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12889 ; owl:annotatedTarget "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Degenerative_disease"^^xsd:string, "url:http://en.wikipedia.org/wiki/Neurodegeneration"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1289 ; owl:annotatedTarget "A central nervous system disease that results in the progressive deterioration of function or structure of neurons."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12894 ; owl:annotatedTarget "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/mikulicz-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12900 ; owl:annotatedTarget "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reproductive_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050622 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in reproductive system organs."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12919 ; owl:annotatedTarget "A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatobia_hominis"^^xsd:string, "url:http://en.wikipedia.org/wiki/Hypodermyiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12926 ; owl:annotatedTarget "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chrysomya_bezziana"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12927 ; owl:annotatedTarget "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocardial_fibroelastosis"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12929 ; owl:annotatedTarget "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13733610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1293 ; owl:annotatedTarget "A vulva carcinoma that is located_in the labia minora."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12930 ; owl:annotatedTarget "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently."^^xsd:string . [] oboInOwl:hasDbXref "MESH:C536231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_12930 ; owl:annotatedTarget "Familial dilated cardiomyopathy"^^xsd:string . [] oboInOwl:hasDbXref "MESH:C536277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_12930 ; owl:annotatedTarget "Idiopathic dilation cardiomyopathy"^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/vulvar"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1294 ; owl:annotatedTarget "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia"^^xsd:string, "url:http://www.netterimages.com/image/acrocephalosyndactylia.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12960 ; owl:annotatedTarget "A synostosis that results_in craniosynostosis and syndactyly."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12965 ; owl:annotatedTarget "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/gl61tx644217n938/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12969 ; owl:annotatedTarget "A hematologic cancer located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12971 ; owl:annotatedTarget "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12978 ; owl:annotatedTarget "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Agranulocytosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12987 ; owl:annotatedTarget "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conduct_disorder"^^xsd:string, "url:http://www.nmha.org/go/conduct-disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_12995 ; owl:annotatedTarget "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/RNA_viruses"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1301 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://smj.sma.org.sg/4911/4911cr4.pdf"^^xsd:string, "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13019 ; owl:annotatedTarget "A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007643, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cryptococcosis"^^xsd:string, "url:http://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17312037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13020 ; owl:annotatedTarget "A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13021 ; owl:annotatedTarget "A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/EID/content/15/8/1301.htm"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13026 ; owl:annotatedTarget "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transient_global_amnesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13027 ; owl:annotatedTarget "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/230617-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13032 ; owl:annotatedTarget "A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13034 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30869050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13035 ; owl:annotatedTarget "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050623 ; owl:annotatedTarget "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Relapsing_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13036 ; owl:annotatedTarget "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13046 ; owl:annotatedTarget "A sphenoid sinusitis which lasts for less than 4 weeks."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ancylostoma_duodenale"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13049 ; owl:annotatedTarget "An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/AIDS_dementia_complex"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1305 ; owl:annotatedTarget "A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13050 ; owl:annotatedTarget "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/1166894-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1306 ; owl:annotatedTarget "An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13060 ; owl:annotatedTarget "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1307 ; owl:annotatedTarget "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nail_disease"^^xsd:string, "url:http://en.wikipedia.org/wiki/Onychomycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13074 ; owl:annotatedTarget "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/14616714"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13076 ; owl:annotatedTarget "An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html"^^xsd:string, "url:http://en.wikipedia.org/wiki/Cutaneous_actinomycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13077 ; owl:annotatedTarget "An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Maduromycosis"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13078 ; owl:annotatedTarget "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules."^^xsd:string . [] oboInOwl:hasDbXref "url:http://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html"^^xsd:string, "url:http://www.medterms.com/script/main/art.asp?articlekey=10924"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1308 ; owl:annotatedTarget "A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ard.bmj.com/content/57/9/540"^^xsd:string, "url:https://radiopaedia.org/articles/jaccoud-arthropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13080 ; owl:annotatedTarget "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13087 ; owl:annotatedTarget "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13098 ; owl:annotatedTarget "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Moyamoya_disease"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13099 ; owl:annotatedTarget "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13109 ; owl:annotatedTarget "A bladder benign neoplasm that derives_from smooth muscle cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/246031-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1311 ; owl:annotatedTarget "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paronychia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13117 ; owl:annotatedTarget "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25373431"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28793357"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13129 ; owl:annotatedTarget "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/AIDS_wasting_syndrome"^^xsd:string, "url:http://www.aidsinfonet.org/fact_sheets/view/519"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1313 ; owl:annotatedTarget "An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25879992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13133 ; owl:annotatedTarget "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stye"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13134 ; owl:annotatedTarget "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13137 ; owl:annotatedTarget "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.djo.org.in/articles/26/4/uveitis-classification1.html"^^xsd:string, "url:https://www.slideshare.net/Jihajie/uveitis-56740528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13140 ; owl:annotatedTarget "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13141 ; owl:annotatedTarget "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050624 ; owl:annotatedTarget "An organ system benign neoplasm located_in gastrointestinal tract organs."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000204.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13145 ; owl:annotatedTarget "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Esophageal_candidiasis"^^xsd:string, "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13146 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urinary_tract_infection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13148 ; owl:annotatedTarget "A cystitis characterized by a sudden onset or severe symptoms."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13149 ; owl:annotatedTarget "A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26113906"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13159 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the scrotum."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pertussis"^^xsd:string, "url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13164 ; owl:annotatedTarget "A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/15735246"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13165 ; owl:annotatedTarget "An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13166 ; owl:annotatedTarget "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gout"^^xsd:string, "url:http://www.mayoclinic.com/health/gout/DS00090"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13189 ; owl:annotatedTarget "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11289402"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040043 ; owl:annotatedTarget "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=387264"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1319 ; owl:annotatedTarget "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13198 ; owl:annotatedTarget "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25177608"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13222 ; owl:annotatedTarget "An uterine fibroid that is located adjacent to the lining of the uterus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Uterine_fibroid"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/uterinefibroids.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13223 ; owl:annotatedTarget "An uterine benign neoplasm derived from the smooth muscle layer of the uterus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13226 ; owl:annotatedTarget "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Haverhill_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13238 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1324 ; owl:annotatedTarget "A respiratory system cancer that is located_in the lung."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050625 ; owl:annotatedTarget "A hepatobiliary benign neoplasm located_in the biliary tract."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13241 ; owl:annotatedTarget "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bronchus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1325 ; owl:annotatedTarget "A respiratory system cancer that is located_in the bronchus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13250 ; owl:annotatedTarget "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050626 ; owl:annotatedTarget "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13251 ; owl:annotatedTarget "A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Diverticulitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13254 ; owl:annotatedTarget "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/299054-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13257 ; owl:annotatedTarget "An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medlineplus/typhoid%20fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13258 ; owl:annotatedTarget "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Porphyria#Subtypes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13268 ; owl:annotatedTarget "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13270 ; owl:annotatedTarget "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050628 ; owl:annotatedTarget "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Klebsiella_pneumonia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1555037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13272 ; owl:annotatedTarget "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13273 ; owl:annotatedTarget "A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages."^^xsd:string . [] oboInOwl:hasDbXref "url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13274 ; owl:annotatedTarget "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13275 ; owl:annotatedTarget "A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20632053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13276 ; owl:annotatedTarget "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13277 ; owl:annotatedTarget "A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13278 ; owl:annotatedTarget "A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs207/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1328 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://omim.org/entry/225750"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1475/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050629 ; owl:annotatedTarget "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://smj.sma.org.sg/5006/5006pe1.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13282 ; owl:annotatedTarget "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.textbookofbacteriology.net/e.coli_4.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13285 ; owl:annotatedTarget "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26948653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_133 ; owl:annotatedTarget "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13300 ; owl:annotatedTarget "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13305 ; owl:annotatedTarget "A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18889690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13306 ; owl:annotatedTarget "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13307 ; owl:annotatedTarget "A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.journals.uchicago.edu/doi/abs/10.1086/344176"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13308 ; owl:annotatedTarget "A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jstor.org/stable/3417440?seq=2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13309 ; owl:annotatedTarget "A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13310 ; owl:annotatedTarget "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/300600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050630 ; owl:annotatedTarget "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13317 ; owl:annotatedTarget "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bunyaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1332 ; owl:annotatedTarget "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13327 ; owl:annotatedTarget "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23479523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13328 ; owl:annotatedTarget "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1333 ; owl:annotatedTarget "A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7111119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13335 ; owl:annotatedTarget "A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh"^^xsd:string, "url:http://www.who.int/bulletin/volumes/91/7/12-111732.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13336 ; owl:annotatedTarget "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13338 ; owl:annotatedTarget "A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.org/viralzone/all_by_species/104.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1334 ; owl:annotatedTarget "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/8519364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13342 ; owl:annotatedTarget "A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13343 ; owl:annotatedTarget "A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bluetongue_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1335 ; owl:annotatedTarget "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome"^^xsd:string, "url:http://omim.org/entry/300523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050631 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13352 ; owl:annotatedTarget "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007643, obo:ECO_0007644, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome"^^xsd:string, "url:http://www.ednf.org/"^^xsd:string, "url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706"^^xsd:string, "url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23711271"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13359 ; owl:annotatedTarget "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1336 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reading_disability"^^xsd:string, "url:https://en.wikipedia.org/wiki/Learning_disability"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13365 ; owl:annotatedTarget "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stiff_person_syndrome"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13366 ; owl:annotatedTarget "A movement disease that is of unknown etiology characterized by progressive rigidity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.medigoo.com/articles/tinea-profunda/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13368 ; owl:annotatedTarget "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tinea_manuum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13369 ; owl:annotatedTarget "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Scrub_typhus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13371 ; owl:annotatedTarget "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oculocutaneous_albinism"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050632 ; owl:annotatedTarget "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13372 ; owl:annotatedTarget "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/"^^xsd:string, "url:http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13374 ; owl:annotatedTarget "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13375 ; owl:annotatedTarget "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ocular-albinism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050633 ; owl:annotatedTarget "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kawasaki_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13378 ; owl:annotatedTarget "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK5313/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1338 ; owl:annotatedTarget "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000569.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13381 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Megaloblastic_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13382 ; owl:annotatedTarget "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous"^^xsd:string, "url:http://www.springerlink.com/content/g3575hwr232l4411/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13386 ; owl:annotatedTarget "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27917514"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13389 ; owl:annotatedTarget "A vulva carcinoma that is located_in the labia majora."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia"^^xsd:string, "url:http://www.cdc.gov/ncbddd/dba/"^^xsd:string, "url:http://www.omim.org/entry/105650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1339 ; owl:annotatedTarget "A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Color_blindness"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13399 ; owl:annotatedTarget "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_134 ; owl:annotatedTarget "A vaginal cancer that has_material_basis in glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050634 ; owl:annotatedTarget "An alopecia characterized by the complete loss of hair on the scalp and body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13403 ; owl:annotatedTarget "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13404 ; owl:annotatedTarget "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13405 ; owl:annotatedTarget "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13406 ; owl:annotatedTarget "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hepatic_encephalopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13413 ; owl:annotatedTarget "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string, "url:http://en.wikipedia.org/wiki/Alexia_%28disorder%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13417 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize text."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050635 ; owl:annotatedTarget "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bejel"^^xsd:string, "url:http://www.merckmanuals.com/home/sec17/ch190/ch190d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13431 ; owl:annotatedTarget "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13444 ; owl:annotatedTarget "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13450 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13459 ; owl:annotatedTarget "A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3622432"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040044 ; owl:annotatedTarget "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Familial_renal_amyloidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050636 ; owl:annotatedTarget "An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13470 ; owl:annotatedTarget "A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13473 ; owl:annotatedTarget "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13474 ; owl:annotatedTarget "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24295833"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13477 ; owl:annotatedTarget "A balantitis characterized by white plaques or patches on genitals."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13481 ; owl:annotatedTarget "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/proteus-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK99495/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13482 ; owl:annotatedTarget "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heller%27s_syndrome"^^xsd:string, "url:http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13487 ; owl:annotatedTarget "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.glowm.com/section_view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_135 ; owl:annotatedTarget "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13501 ; owl:annotatedTarget "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13515 ; owl:annotatedTarget "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.malacards.org/card/tetanus_neonatorum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13521 ; owl:annotatedTarget "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Loiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13523 ; owl:annotatedTarget "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string, "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13526 ; owl:annotatedTarget "A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Moniliasis"^^xsd:string, "url:http://en.wikipedia.org/wiki/Otomycosis"^^xsd:string, "url:http://www.aafp.org/afp/2001/0301/p927.html"^^xsd:string, "url:http://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13527 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/213853-overview"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13528 ; owl:annotatedTarget "A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteopetrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13533 ; owl:annotatedTarget "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13534 ; owl:annotatedTarget "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050637 ; owl:annotatedTarget "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperparathyroidism"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=hyperparathyroidism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13543 ; owl:annotatedTarget "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13544 ; owl:annotatedTarget "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string, "url:https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13549 ; owl:annotatedTarget "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13550 ; owl:annotatedTarget "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22583728"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13560 ; owl:annotatedTarget "An uterine fibroid that is located adjacent to the outside of the uterus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/"^^xsd:string, "url:http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13564 ; owl:annotatedTarget "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system."^^xsd:string . [] dc:type obo:ECO_0007643, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17377359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13565 ; owl:annotatedTarget "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13574 ; owl:annotatedTarget "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK507876/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13579 ; owl:annotatedTarget "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cholestasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13580 ; owl:annotatedTarget "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Female_infertility"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13589 ; owl:annotatedTarget "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/preeclampsia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13593 ; owl:annotatedTarget "A pre-eclampsia characterized by the presence of seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12588439"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_136 ; owl:annotatedTarget "A vaginal carcinoma that has_material_basis in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.textbookofbacteriology.net/e.coli_4.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13601 ; owl:annotatedTarget "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Biliary_atresia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13608 ; owl:annotatedTarget "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1362 ; owl:annotatedTarget "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string, "url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451"^^xsd:string, "url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19372706"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050638 ; owl:annotatedTarget "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Campylobacteriosis"^^xsd:string, "url:http://www.health.state.ny.us/diseases/communicable/campylobacteriosis/fact_sheet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13622 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13623 ; owl:annotatedTarget "A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13628 ; owl:annotatedTarget "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fanconi_anemia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/fanconi-anemia"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13636 ; owl:annotatedTarget "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13641 ; owl:annotatedTarget "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.icd10data.com/ICD10CM/Codes/A00-B99/A50-A64/A54-/A54.01"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13690 ; owl:annotatedTarget "An acute cystitis that is caused by gonorrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23488469"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13691 ; owl:annotatedTarget "A dermoid cyst that is located_in the skin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_137 ; owl:annotatedTarget "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1371 ; owl:annotatedTarget "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/5818/index"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13714 ; owl:annotatedTarget "A tooth disease that is characterized by complete absence of permanent teeth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13717 ; owl:annotatedTarget "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schistosomiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13720 ; owl:annotatedTarget "A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ajtmh.org/cgi/content/full/76/5/964"^^xsd:string, "url:http://www.cdc.gov/ncidod/eid/vol12no09/06-0113.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16138195"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16138195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13722 ; owl:annotatedTarget "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/10333324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13723 ; owl:annotatedTarget "A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000355.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13724 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string, "url:https://medlineplus.gov/ency/article/000339.htm"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13725 ; owl:annotatedTarget "A thiamine deficiency disease that is characterized by being severe and chronic."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusstromalnodule.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26221551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1373 ; owl:annotatedTarget "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13734 ; owl:annotatedTarget "A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25153777"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13736 ; owl:annotatedTarget "A uterine disease that is characterized by inflammation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13743 ; owl:annotatedTarget "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13753 ; owl:annotatedTarget "An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13754 ; owl:annotatedTarget "An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/299054-overview"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16924162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13755 ; owl:annotatedTarget "An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/lice/pubic/disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13760 ; owl:annotatedTarget "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16965857"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13762 ; owl:annotatedTarget "A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dourine"^^xsd:string, "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13763 ; owl:annotatedTarget "A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19663869"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050639 ; owl:annotatedTarget "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Clonorchiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13767 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opisthorchiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13768 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Addison%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13774 ; owl:annotatedTarget "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Plantar_wart"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13775 ; owl:annotatedTarget "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16252239/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK84550/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050640 ; owl:annotatedTarget "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13777 ; owl:annotatedTarget "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chancroid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13778 ; owl:annotatedTarget "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13791 ; owl:annotatedTarget "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26060127"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13799 ; owl:annotatedTarget "A female breast cancer that is located_in the center of the breast."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23057430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_138 ; owl:annotatedTarget "A vaginal cancer that has_material_basis in squamous tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3103426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050641 ; owl:annotatedTarget "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=444987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1380 ; owl:annotatedTarget "A uterine cancer that is located_in tissues lining the uterus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13800 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypochromic_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050642 ; owl:annotatedTarget "A microcytic anemia characterized by paler than normal blood cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6691936"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040045 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger nickel atom."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13801 ; owl:annotatedTarget "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1381 ; owl:annotatedTarget "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13810 ; owl:annotatedTarget "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18856846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13811 ; owl:annotatedTarget "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26700995"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13812 ; owl:annotatedTarget "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification"^^xsd:string, "url:http://www.omim.org/entry/208000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050644 ; owl:annotatedTarget "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050645 ; owl:annotatedTarget "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13819 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string, "url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30725861"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1382 ; owl:annotatedTarget "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://nciws-p803.nci.nih.gov:9080/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13822 ; owl:annotatedTarget "A cataract resulting from hypocalcemia."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://meshb.nlm.nih.gov/record/ui?ui=D013543"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9448199"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1383 ; owl:annotatedTarget "A skin disease located_in the sweat glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arthrogryposis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050646 ; owl:annotatedTarget "A muscle tissue disease characterized by congenital joint contractures of hand and feet."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Abetalipoproteinemia"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1386 ; owl:annotatedTarget "A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.wikidata.org/wiki/Q18554619"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13861 ; owl:annotatedTarget "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13862 ; owl:annotatedTarget "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening futher optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13867 ; owl:annotatedTarget "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypolipoproteinemia"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1387 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/arts-syndrome"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK2591/"^^xsd:string, "url:http://www.omim.org/entry/301835"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301738"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050647 ; owl:annotatedTarget "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10431236/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1388 ; owl:annotatedTarget "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polyneuropathy"^^xsd:string, "url:https://www.virginiamason.org/polyneuropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1389 ; owl:annotatedTarget "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13891 ; owl:annotatedTarget "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypobetalipoproteinemia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15818469"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1390 ; owl:annotatedTarget "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13902 ; owl:annotatedTarget "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achromatopsia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1418/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382"^^xsd:string, "url:http://www.sciencedirect.com/science/article/pii/S0161642009010008"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13911 ; owl:annotatedTarget "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Somatization_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13918 ; owl:annotatedTarget "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13922 ; owl:annotatedTarget "An esophagitis characterized by inflammation involving eosinophils located_in esophagus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1393 ; owl:annotatedTarget "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23939500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13938 ; owl:annotatedTarget "A female reproductive system disease that is characterized by the absence of menstruation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050648 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schistosoma_haematobium"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1394 ; owl:annotatedTarget "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10476042"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8878478"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13945 ; owl:annotatedTarget "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment."^^xsd:string . [] dc:type obo:ECO_0007640, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1395 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13951 ; owl:annotatedTarget "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23370645"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13953 ; owl:annotatedTarget "A uterine fibroid that is characterized by the presence of intramural tearing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13955 ; owl:annotatedTarget "An uterine fibroid that is located within the myometrium."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13956 ; owl:annotatedTarget "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13957 ; owl:annotatedTarget "An uterine fibroid that is characterized by the presence of adipocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Atransferrinemia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29969719"^^xsd:string, "url:https://www.omim.org/entry/209300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050649 ; owl:annotatedTarget "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/uterine_corpus_bizarre_leiomyoma"^^xsd:string, "url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13958 ; owl:annotatedTarget "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13963 ; owl:annotatedTarget "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Morgagnian_Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13964 ; owl:annotatedTarget "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13972 ; owl:annotatedTarget "A female breast cancer that is located_in the lower-outer qudrant of the breast."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/297976-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13979 ; owl:annotatedTarget "A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1398 ; owl:annotatedTarget "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/297976-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13980 ; owl:annotatedTarget "A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia"^^xsd:string, "url:http://www.faces-cranio.org/Disord/CCD.htm"^^xsd:string, "url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/001589.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_13994 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1400 ; owl:annotatedTarget "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string, "url:http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14004 ; owl:annotatedTarget "An aortic aneurysm that is located_in the thoracic aorta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050650 ; owl:annotatedTarget "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1172954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14019 ; owl:annotatedTarget "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000551.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14026 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25956755"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14037 ; owl:annotatedTarget "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14039 ; owl:annotatedTarget "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14040 ; owl:annotatedTarget "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bipolar_I"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14042 ; owl:annotatedTarget "A bipolar disorder that is characterized by at least one manic or mixed episode."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/phaeohyphomycosis.htm"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Phaeohyphomycosis/"^^xsd:string, "url:http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14049 ; owl:annotatedTarget "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1405 ; owl:annotatedTarget "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5874817"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14059 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the paraurethral glands."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14067 ; owl:annotatedTarget "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blackwater_fever"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14068 ; owl:annotatedTarget "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14069 ; owl:annotatedTarget "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect"^^xsd:string, "url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050651 ; owl:annotatedTarget "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16448876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14081 ; owl:annotatedTarget "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epicondylitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14087 ; owl:annotatedTarget "A bone inflammation disease that results_in inflammation located_in epicondyle."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Boutonneuse_fever"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14095 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1204/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050654 ; owl:annotatedTarget "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14110 ; owl:annotatedTarget "A large intestine cancer that is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050655 ; owl:annotatedTarget "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14115 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://fcs.raredr.com"^^xsd:string, "url:https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14118 ; owl:annotatedTarget "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bacteriuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1412 ; owl:annotatedTarget "A urinary system disease which consists of the presence of bacteria in urine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26337427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14130 ; owl:annotatedTarget "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26337427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14131 ; owl:annotatedTarget "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ajog.org/article/S0002-9378(05)02620-7/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14133 ; owl:annotatedTarget "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26132932"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1414 ; owl:annotatedTarget "An ovarian disease that is characterized by irregular or absent ovulation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20727516"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050656 ; owl:annotatedTarget "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28513524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14146 ; owl:annotatedTarget "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.virtualmedicalcentre.com/diseases.asp?did=583"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14150 ; owl:annotatedTarget "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7671317"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040046 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger nickel atom."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26846287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14176 ; owl:annotatedTarget "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14179 ; owl:annotatedTarget "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14188 ; owl:annotatedTarget "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1488/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31062505"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050657 ; owl:annotatedTarget "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hypophosphatasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14213 ; owl:annotatedTarget "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14218 ; owl:annotatedTarget "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renal_tubular_acidosis"^^xsd:string, "url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14219 ; owl:annotatedTarget "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Metabolic_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14221 ; owl:annotatedTarget "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ochronosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14223 ; owl:annotatedTarget "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14225 ; owl:annotatedTarget "A frontal sinusitis which lasts for less than 4 weeks."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Azoospermia"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=azoospermia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14227 ; owl:annotatedTarget "A male infertility disease characterized by the absence of any measurable level of sperm in semen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Oligospermia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14228 ; owl:annotatedTarget "A male fertility issue defined as a low sperm concentration in the ejaculate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Scleritis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14230 ; owl:annotatedTarget "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/tularemia/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14239 ; owl:annotatedTarget "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14243 ; owl:annotatedTarget "A perichondritis of auricle which is persistent and long-lasting."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14247 ; owl:annotatedTarget "A suppurative otitis media which is persistent and long-lasting."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050658 ; owl:annotatedTarget "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14248 ; owl:annotatedTarget "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Down_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/down-syndrome"^^xsd:string, "url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx"^^xsd:string, "url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14250 ; owl:annotatedTarget "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease"^^xsd:string, "url:http://www.mayoclinic.com/health/adult-stills-disease/DS00792"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm"^^xsd:string, "url:http://www.stillsdisease.org/"^^xsd:string, "url:http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14256 ; owl:annotatedTarget "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK169615/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050659 ; owl:annotatedTarget "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1426 ; owl:annotatedTarget "A urinary system disease that is located_in the ureter."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fragile_X_syndrome"^^xsd:string, "url:http://omim.org/entry/300624"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14261 ; owl:annotatedTarget "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oral_candidiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14262 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK32534/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14264 ; owl:annotatedTarget "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/pulmonary_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14265 ; owl:annotatedTarget "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14275 ; owl:annotatedTarget "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Scleritis"^^xsd:string, "url:https://www.aao.org/eye-health/diseases/what-is-scleritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14287 ; owl:annotatedTarget "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ebstein_anomaly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14289 ; owl:annotatedTarget "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14291 ; owl:annotatedTarget "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1449423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14292 ; owl:annotatedTarget "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching."^^xsd:string . [] dc:type obo:ECO_0007643, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://erj.ersjournals.com/cgi/reprint/10/4/942"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14305 ; owl:annotatedTarget "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14311 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050660 ; owl:annotatedTarget "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14319 ; owl:annotatedTarget "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Visual_impairment"^^xsd:string, "url:https://nei.nih.gov/eyedata/blind"^^xsd:string, "url:https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1432 ; owl:annotatedTarget "An eye disease characterized by a lack or loss of vision."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14320 ; owl:annotatedTarget "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050661 ; owl:annotatedTarget "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807"^^xsd:string, "url:https://rarediseases.org/rare-diseases/marfan-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14323 ; owl:annotatedTarget "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14324 ; owl:annotatedTarget "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15105024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14325 ; owl:annotatedTarget "A malaria that involves infection with more than one species of Plasmodium at the same time."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Avian_malaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14326 ; owl:annotatedTarget "A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parkinson%27s_disease"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26474316/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14330 ; owl:annotatedTarget "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.icd10data.com/ICD10CM/Codes/E00-E89/E20-E35/E28-/E28.0"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14336 ; owl:annotatedTarget "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pseudomonas_aeruginosa"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14338 ; owl:annotatedTarget "A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14360 ; owl:annotatedTarget "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24859690"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25545482"^^xsd:string, "url:https://www.omim.org/entry/611809"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050662 ; owl:annotatedTarget "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carnitine_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14365 ; owl:annotatedTarget "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14374 ; owl:annotatedTarget "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parietal_lobe"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14384 ; owl:annotatedTarget "A cerebrum cancer that is located_in the parietal lobe."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thrombophlebitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14392 ; owl:annotatedTarget "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050663 ; owl:annotatedTarget "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysentery"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14397 ; owl:annotatedTarget "A dysentery that involves protozoan infection."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease"^^xsd:string, "url:http://omim.org/entry/109150"^^xsd:string, "url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1440 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK22234/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1441 ; owl:annotatedTarget "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14415 ; owl:annotatedTarget "An osteochondrosis that results_in death and fracture located_in hip joint."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dracunculiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14418 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14419 ; owl:annotatedTarget "A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasBroadSynonym ; owl:annotatedTarget "Broad synonym."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050664 ; owl:annotatedTarget "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14422 ; owl:annotatedTarget "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neurodegeneration"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1443 ; owl:annotatedTarget "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.textbookofbacteriology.net/e.coli_4.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14433 ; owl:annotatedTarget "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.textbookofbacteriology.net/e.coli_4.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14434 ; owl:annotatedTarget "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14435 ; owl:annotatedTarget "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cholinergic_urticaria"^^xsd:string, "url:http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14443 ; owl:annotatedTarget "A physical urticaria induced by sweating."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aao.org/eye-health/diseases/what-is-scleritis"^^xsd:string, "url:https://www.medilexicon.com/dictionary/46799"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14444 ; owl:annotatedTarget "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14445 ; owl:annotatedTarget "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gonadal_dysgenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14447 ; owl:annotatedTarget "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14448 ; owl:annotatedTarget "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14449 ; owl:annotatedTarget "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14450 ; owl:annotatedTarget "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf"^^xsd:string, "url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14453 ; owl:annotatedTarget "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome"^^xsd:string, "url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf"^^xsd:string, "url:http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050665 ; owl:annotatedTarget "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bmj.com/cgi/reprint/1/5644/612.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14456 ; owl:annotatedTarget "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/10790142"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14457 ; owl:annotatedTarget "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14464 ; owl:annotatedTarget "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm"^^xsd:string, "url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string, "url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050666 ; owl:annotatedTarget "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false"^^xsd:string, "url:http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/10742726"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14472 ; owl:annotatedTarget "A viral infectious disease that results in infection located in lung, has_material_basis_in Sin Nombre virus, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal orthohantavirus, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenovirus_infection"^^xsd:string, "url:http://virology-online.com/viruses/Adenoviruses3.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14473 ; owl:annotatedTarget "An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.cdc.gov/RSV/"^^xsd:string, "url:http://www.merck.com/mmhe/sec23/ch273/ch273i.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14474 ; owl:annotatedTarget "A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14475 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/SARS"^^xsd:string, "url:http://www.doh.gov.ph/sars/may16.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14476 ; owl:annotatedTarget "A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000664.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14477 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050667 ; owl:annotatedTarget "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14482 ; owl:annotatedTarget "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nyhealth.gov/diseases/communicable/sporotrichosis/fact_sheet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14484 ; owl:annotatedTarget "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/fabry-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14499 ; owl:annotatedTarget "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome"^^xsd:string, "url:https://www.omim.org/entry/270200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14501 ; owl:annotatedTarget "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Niemann-Pick_disease"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14504 ; owl:annotatedTarget "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14512 ; owl:annotatedTarget "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/WAGR_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14515 ; owl:annotatedTarget "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14520 ; owl:annotatedTarget "An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10863169"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14523 ; owl:annotatedTarget "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Reye_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2680560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14525 ; owl:annotatedTarget "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050668 ; owl:annotatedTarget "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14544 ; owl:annotatedTarget "A rete testis neoplasm that derives_from epithelial cells of glandular origin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html"^^xsd:string, "url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050669 ; owl:annotatedTarget "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14545 ; owl:annotatedTarget "A male reproductive organ cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6643876"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040047 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger trimellitic anhydride."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25748513"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14547 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the sphenoid sinus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Geographic_tongue"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1455 ; owl:annotatedTarget "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pulmonary_hypertension"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14557 ; owl:annotatedTarget "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14566 ; owl:annotatedTarget "A disease that is characterized by abnormally rapid cell division."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/hypothyroidism.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1459 ; owl:annotatedTarget "A thyroid gland disease which involves an underproduction of thyroid hormone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cholesterol_embolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1461 ; owl:annotatedTarget "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://children.webmd.com/acrodysostosis"^^xsd:string, "url:http://en.wikipedia.org/wiki/Acrodysostosis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/001248.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14669 ; owl:annotatedTarget "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1467 ; owl:annotatedTarget "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string, "url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050670 ; owl:annotatedTarget "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11152141"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14670 ; owl:annotatedTarget "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23423984"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14671 ; owl:annotatedTarget "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/VACTERL_association"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/vacterl-association"^^xsd:string, "url:http://www.cincinnatichildrens.org/health/v/vacterl/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14679 ; owl:annotatedTarget "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1468 ; owl:annotatedTarget "An otitis interna which involves inflammation of the labyrinths."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/russell-silver-syndrome"^^xsd:string, "url:https://rarediseases.org/rare-diseases/russell-silver-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14681 ; owl:annotatedTarget "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24703317"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25002350"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050671 ; owl:annotatedTarget "A breast cancer that develops from breast tissue in females."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Axenfeld_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14686 ; owl:annotatedTarget "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diastrophic_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK22219/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14687 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14694 ; owl:annotatedTarget "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Galactokinase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14695 ; owl:annotatedTarget "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK23758/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14699 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Major_depressive_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1470 ; owl:annotatedTarget "An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Propionic_acidemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14701 ; owl:annotatedTarget "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/263442"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14702 ; owl:annotatedTarget "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pfeiffer_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome"^^xsd:string, "url:http://www.faces-cranio.org/Disord/Pfeiffer.htm"^^xsd:string, "url:http://www.healthline.com/galecontent/pfeiffer-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14705 ; owl:annotatedTarget "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/FG_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/fg-syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14711 ; owl:annotatedTarget "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Centronuclear_myopathy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14717 ; owl:annotatedTarget "A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050672 ; owl:annotatedTarget "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14720 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14723 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3236353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14725 ; owl:annotatedTarget "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/weaver-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30793471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14731 ; owl:annotatedTarget "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/hereditary-angioedema/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14735 ; owl:annotatedTarget "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy"^^xsd:string, "url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050673 ; owl:annotatedTarget "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/304110"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14737 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aggressive_periodontitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1474 ; owl:annotatedTarget "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14743 ; owl:annotatedTarget "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/partington-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23622180"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14744 ; owl:annotatedTarget "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_gigantism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14748 ; owl:annotatedTarget "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14749 ; owl:annotatedTarget "An organic acidemia that involves an accumulation of methylmalonic acid in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Lymphangioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1475 ; owl:annotatedTarget "A benign vascular tumor that is composed of dilated lymphatic channels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Isovaleric_acidemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14753 ; owl:annotatedTarget "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Argininosuccinic_aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14755 ; owl:annotatedTarget "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21637106/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14756 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14757 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14759 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14761 ; owl:annotatedTarget "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14762 ; owl:annotatedTarget "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12543708"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050674 ; owl:annotatedTarget "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Larsen_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/larsen-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14764 ; owl:annotatedTarget "Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Renal_agenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14766 ; owl:annotatedTarget "A renal disease that is characterized by the failure of one or both kidneys to develop."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://children.webmd.com/saethre-chotzen-syndrome"^^xsd:string, "url:http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome"^^xsd:string, "url:http://www.faces-cranio.org/Disord/Saethre.htm"^^xsd:string, "url:http://www.healthline.com/galecontent/saethre-chotzen-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14768 ; owl:annotatedTarget "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11207361"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14773 ; owl:annotatedTarget "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14775 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11175783"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14778 ; owl:annotatedTarget "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14780 ; owl:annotatedTarget "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/opca/opca.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14784 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1971141/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14789 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14791 ; owl:annotatedTarget "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1112/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14793 ; owl:annotatedTarget "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050675 ; owl:annotatedTarget "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dubowitz_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14796 ; owl:annotatedTarget "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blount%27s_disease"^^xsd:string, "url:http://www.columbiaortho.org/children/blountsdisease.html"^^xsd:string, "url:http://www.e-radiography.net/radpath/b/blountsdisease.htm"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm"^^xsd:string, "url:http://www.wheelessonline.com/ortho/blounts_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_14798 ; owl:annotatedTarget "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1483 ; owl:annotatedTarget "A periodontal disease that is located_in the gums."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cystic_fibrosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cystic-fibrosis"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/cf/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1485 ; owl:annotatedTarget "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Category:Diseases_of_the_eye_and_adnexa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1492 ; owl:annotatedTarget "A sensory system disease that is located_in the eye or the adnexa of the eye."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050676 ; owl:annotatedTarget "A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/mediacentre/factsheets/fs377/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1495 ; owl:annotatedTarget "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1496 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050677 ; owl:annotatedTarget "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what"^^xsd:string, "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1498 ; owl:annotatedTarget "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reproductive_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_15 ; owl:annotatedTarget "A disease of anatomical entity that is located_in reproductive system organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mental_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_150 ; owl:annotatedTarget "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Candidiasis"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1508 ; owl:annotatedTarget "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1509 ; owl:annotatedTarget "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/personalitydisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1510 ; owl:annotatedTarget "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gonorrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1512 ; owl:annotatedTarget "A chronic cervicitis that is caused by gonorrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27243142"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1513 ; owl:annotatedTarget "A cervicitis that is present for weeks or more."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cecum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1517 ; owl:annotatedTarget "An intestinal benign neoplasm that is located_in the cecum."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blau_syndrome"^^xsd:string, "url:http://www.omim.org/entry/186580?search=186580&highlight=186580"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050678 ; owl:annotatedTarget "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cecum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1518 ; owl:annotatedTarget "An intestinal disease located_in the cecum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1519 ; owl:annotatedTarget "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1520 ; owl:annotatedTarget "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cecum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1521 ; owl:annotatedTarget "A large intestine cancer that is located_in the cecum."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/303700"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050679 ; owl:annotatedTarget "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Panniculitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1526 ; owl:annotatedTarget "A skin disease that is characterized by inflammation of subcutaneous adipose tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibroepithelial_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_153 ; owl:annotatedTarget "A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050680 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleural_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1532 ; owl:annotatedTarget "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040048 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger phthalic anhydride."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1"^^xsd:string, "url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050681 ; owl:annotatedTarget "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18412118"^^xsd:string, "url:https://www.omim.org/entry/601536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050682 ; owl:annotatedTarget "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_154 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parathyroid_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1540 ; owl:annotatedTarget "An endocrine gland cancer located_in the parathyroid glands located in the neck."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11176989"^^xsd:string, "url:https://www.omim.org/entry/607475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050683 ; owl:annotatedTarget "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Head_and_neck_cancer"^^xsd:string, "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null"^^xsd:string, "url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1542 ; owl:annotatedTarget "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26841242/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1554 ; owl:annotatedTarget "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urticaria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1555 ; owl:annotatedTarget "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Arthus_reaction"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1556 ; owl:annotatedTarget "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Type_III_hypersensitivity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1557 ; owl:annotatedTarget "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Angioedema"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK430889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1558 ; owl:annotatedTarget "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cognitive_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1561 ; owl:annotatedTarget "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1562 ; owl:annotatedTarget "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1563 ; owl:annotatedTarget "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mycoses"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1564 ; owl:annotatedTarget "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=46422"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_157 ; owl:annotatedTarget "A carcinoma that derives_from the cells that line an organ."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19463982"^^xsd:string, "url:https://www.omim.org/entry/211180"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050684 ; owl:annotatedTarget "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alcohol_abuse"^^xsd:string, "url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1574 ; owl:annotatedTarget "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1575 ; owl:annotatedTarget "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/File:Respiratory_system_complete_en.svg"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1579 ; owl:annotatedTarget "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Small_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050685 ; owl:annotatedTarget "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf"^^xsd:string, "url:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607"^^xsd:string, "url:http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1583 ; owl:annotatedTarget "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acute_chest_syndrome"^^xsd:string, "url:http://www.rcjournal.com/contents/03.04/03.04.0263.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1584 ; owl:annotatedTarget "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Rheumatic_fever"^^xsd:string, "url:https://medlineplus.gov/ency/article/003940.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1586 ; owl:annotatedTarget "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thrombocytopenia"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=thrombocytopenia"^^xsd:string, "url:http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1588 ; owl:annotatedTarget "A blood platelet disease that is characterized by low a platelet count in the blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://cancerguide.org/basic.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050686 ; owl:annotatedTarget "A cancer that is classified based on the organ it starts in."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endogenous_depression"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1595 ; owl:annotatedTarget "A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_16 ; owl:annotatedTarget "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypoglycemia"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1607 ; owl:annotatedTarget "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom aberrant behavior, has_symptom seizure, and has_symptom coma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Keratosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_161 ; owl:annotatedTarget "A skin disease characterized_by growth of keratin on the skin or mucous membranes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Mammary"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/breast"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/breastcancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1612 ; owl:annotatedTarget "A thoracic cancer that originates in the mammary gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24131976"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1614 ; owl:annotatedTarget "A breast cancer that occurs in males."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25284865/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26236527/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1616 ; owl:annotatedTarget "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit)."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1618 ; owl:annotatedTarget "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/cancer"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_162 ; owl:annotatedTarget "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1623 ; owl:annotatedTarget "A breast benign neoplasm that has_material_basis in smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/949710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1625 ; owl:annotatedTarget "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Intraductal_papilloma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1626 ; owl:annotatedTarget "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22336153"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1628 ; owl:annotatedTarget "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1629 ; owl:annotatedTarget "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Phyllodes_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1631 ; owl:annotatedTarget "A breast benign neoplasm that has_material_basis in epithelial and stromal tissue and derives_from periductal stromal cells of the breast."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.archivesofpathology.org/doi/full/10.1043/1543-2165-133.6.893?code=coap-site#_i8"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1634 ; owl:annotatedTarget "A breast benign neoplasm that is characterized by papillary proliferations within multiple terminal duct-lobular units or in the distal branches (terminal ducts) of the duct system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancerguide.org/basic.html"^^xsd:string, "url:http://en.wikipedia.org/wiki/Cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050687 ; owl:annotatedTarget "A cancer that is classified by the type of cell from which it is derived."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23488550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1637 ; owl:annotatedTarget "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1638 ; owl:annotatedTarget "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bone_Tuberculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1639 ; owl:annotatedTarget "An extrapulmonary tuberculosis that results in formation of lesions located in bone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23627458"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1641 ; owl:annotatedTarget "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ajronline.org/cgi/content/full/180/3/799"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1642 ; owl:annotatedTarget "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1647 ; owl:annotatedTarget "A female breast cancer that is located_in the upper-inner quadrant of the breast."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1649 ; owl:annotatedTarget "A female breast cancer that is located_in the lower-inner quadrant of the breast."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Tail_of_Spence"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24004816,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1650 ; owl:annotatedTarget "A female breast cancer that is located_in the breast tissue extending into the axilla."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ventricular_septal_defect"^^xsd:string, "url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1657 ; owl:annotatedTarget "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tentorium_cerebelli"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1659 ; owl:annotatedTarget "A brain cancer that is located in the supratentorial region."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pinealoblastoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28327927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1664 ; owl:annotatedTarget "A pineal gland neoplasm located_in the brain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/childCNSembryonal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1665 ; owl:annotatedTarget "An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29961427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1672 ; owl:annotatedTarget "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pneumothorax"^^xsd:string, "url:https://medlineplus.gov/ency/article/000087.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1673 ; owl:annotatedTarget "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Interstitial_cystitis"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1678 ; owl:annotatedTarget "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1679 ; owl:annotatedTarget "A bladder disease that is characterized by inflammation of the bladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string, "url:https://www.aao.org/eye-health/diseases/what-is-glaucoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1686 ; owl:annotatedTarget "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function."^^xsd:string . [] oboInOwl:hasDbXref "url:https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1687 ; owl:annotatedTarget "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoinmmune diseases."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuroendocrine_cell"^^xsd:string, "url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_169 ; owl:annotatedTarget "An endocrine gland cancer that has_material_basis_in neuroendocrine cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/HP_0008064"^^xsd:string, "url:http://www.dermnetnz.org/topics/ichthyosis/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ichthyosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1420/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1697 ; owl:annotatedTarget "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_17 ; owl:annotatedTarget "A disease of anatomical entity that occurs in the muscular and/or skeletal system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_170 ; owl:annotatedTarget "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anal_canal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050688 ; owl:annotatedTarget "A large intestine cancer that is located_in the terminal part of the large intestine."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7904/disease"^^xsd:string, "url:https://www.omim.org/entry/308100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1700 ; owl:annotatedTarget "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism"^^xsd:string, "url:http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1701 ; owl:annotatedTarget "A lipid metabolism disorder that involves defects in steroid metabolism."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1702 ; owl:annotatedTarget "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1712 ; owl:annotatedTarget "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peritoneal_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1725 ; owl:annotatedTarget "An organ system cancer that is located in the peritoneum."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17236141"^^xsd:string, "url:https://www.omim.org/entry/610713"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050689 ; owl:annotatedTarget "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm"^^xsd:string, "url:http://www.jstor.org/stable/pdfplus/4547765.pdf"^^xsd:string, "url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1730 ; owl:annotatedTarget "A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/niosh/hi97146.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1731 ; owl:annotatedTarget "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040049 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger maleic anhydride."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10968486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050690 ; owl:annotatedTarget "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1733 ; owl:annotatedTarget "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1734 ; owl:annotatedTarget "A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1738 ; owl:annotatedTarget "A small intestine benign neoplasm that is located_in the small intestine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19883851"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27584160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1748 ; owl:annotatedTarget "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1749 ; owl:annotatedTarget "A carcinoma that derives_from squamous epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vascular"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_175 ; owl:annotatedTarget "A cardiovascular cancer that is located_in blood vessels."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=269467"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1752 ; owl:annotatedTarget "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK55063/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050691 ; owl:annotatedTarget "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mitral_valve_stenosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1754 ; owl:annotatedTarget "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1758 ; owl:annotatedTarget "An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16940867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1759 ; owl:annotatedTarget "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=44005"^^xsd:string, "url:http://www.healthcentral.com/heart-disease/h/cardiovascular-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_176 ; owl:annotatedTarget "An organ system cancer that located_in the heart and blood vessels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cheilitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1762 ; owl:annotatedTarget "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Factitious_disorder"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1766 ; owl:annotatedTarget "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conversion_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1768 ; owl:annotatedTarget "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vascular_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_178 ; owl:annotatedTarget "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thyroid_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1781 ; owl:annotatedTarget "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pituitary_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1785 ; owl:annotatedTarget "An endocrine gland cancer located_in the pituitary gland located at the base of the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pericarditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1787 ; owl:annotatedTarget "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1788 ; owl:annotatedTarget "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/Mesothelioma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44323"^^xsd:string, "url:http://www.merriam-webster.com/medlineplus/mesothelioma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1790 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1791 ; owl:annotatedTarget "A carcinoma that is located_in the inside of the abdomen."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/brody-myopathy"^^xsd:string, "url:https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050692 ; owl:annotatedTarget "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pancreatic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1793 ; owl:annotatedTarget "An endocrine gland cancer located_in the pancreas."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1795 ; owl:annotatedTarget "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:http://radioncology.com/en/articles/5126.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1796 ; owl:annotatedTarget "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1798 ; owl:annotatedTarget "An islet cell tumor that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Islets_of_Langerhans"^^xsd:string, "url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1799 ; owl:annotatedTarget "A pancreatic cancer that is located_in the pancreatic islet cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_18 ; owl:annotatedTarget "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ossifying_fibroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_180 ; owl:annotatedTarget "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050693 ; owl:annotatedTarget "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1800 ; owl:annotatedTarget "A carcinoma that derives_from neuroendocrine cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1804 ; owl:annotatedTarget "A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v="^^xsd:string, "url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1805 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1806 ; owl:annotatedTarget "A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Calcinosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_182 ; owl:annotatedTarget "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1825 ; owl:annotatedTarget "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false"^^xsd:string, "url:http://www.merriam-webster.com/medlineplus/epilepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1826 ; owl:annotatedTarget "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epilepsy"^^xsd:string, "url:http://en.wikipedia.org/wiki/Generalized_epilepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1827 ; owl:annotatedTarget "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21110228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050694 ; owl:annotatedTarget "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000320.htm"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1837 ; owl:annotatedTarget "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/bone"^^xsd:string, "url:http://www.wrongdiagnosis.com/b/bone_cancer/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_184 ; owl:annotatedTarget "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Strongylida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1845 ; owl:annotatedTarget "A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cannabis_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1849 ; owl:annotatedTarget "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000215.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1852 ; owl:annotatedTarget "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17075563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050695 ; owl:annotatedTarget "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10364528"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11381256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1856 ; owl:annotatedTarget "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1858 ; owl:annotatedTarget "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.buzzle.com/articles/jaw-cancer-symptoms.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1862 ; owl:annotatedTarget "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Atrial_septal_defect"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1882 ; owl:annotatedTarget "A heart septal defect located_in in the septum that separates the two atria of the heart."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string, "url:http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050696 ; owl:annotatedTarget "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/hepatitis/HCV/index.htm"^^xsd:string, "url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string, "url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1883 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/HEPATITIS/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1884 ; owl:annotatedTarget "A hepatitis that involves viral infection causing inflammation of the liver."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Flaviviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1886 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.academy.org.uk/lectures/barnard3.htm"^^xsd:string, "url:http://www.nature.com/eye/journal/v18/n11/full/6701575a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1891 ; owl:annotatedTarget "A cranial nerve disease that is located_in the optic nerve."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chorioamnionitis"^^xsd:string, "url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050697 ; owl:annotatedTarget "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Allergic_contact_dermatitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1895 ; owl:annotatedTarget "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21816677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1901 ; owl:annotatedTarget "A vaginal cancer that has_material_basis in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Funisitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050698 ; owl:annotatedTarget "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Melanoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22123420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1909 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30814243"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1910 ; owl:annotatedTarget "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string, "url:http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string, "url:http://www.cincinnatichildrens.org/health/y/yolk-sac/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1911 ; owl:annotatedTarget "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_192 ; owl:annotatedTarget "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperuricemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1920 ; owl:annotatedTarget "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/klinefelter-syndrome"^^xsd:string, "url:https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1921 ; owl:annotatedTarget "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1923 ; owl:annotatedTarget "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypogonadism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1924 ; owl:annotatedTarget "A gonadal disease that is characterized by diminished functional activity of the gonads."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1925 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gaucher%27s_disease"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1926 ; owl:annotatedTarget "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sphingolipidoses"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28857617"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1927 ; owl:annotatedTarget "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dent%27s_disease"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/dent-disease"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050699 ; owl:annotatedTarget "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/williams-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1249/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1928 ; owl:annotatedTarget "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1929 ; owl:annotatedTarget "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_193 ; owl:annotatedTarget "An organ system cancer that is manifested in the reproductive organs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050700 ; owl:annotatedTarget "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25480986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1930 ; owl:annotatedTarget "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050701 ; owl:annotatedTarget "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040050 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22182677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050702 ; owl:annotatedTarget "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Angelman_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1932 ; owl:annotatedTarget "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050703 ; owl:annotatedTarget "An electroclinical syndrome with onset in infancy occurring between birth and one year of age."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1933 ; owl:annotatedTarget "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysostosis"^^xsd:string, "url:http://medical-dictionary.thefreedictionary.com/dysostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1934 ; owl:annotatedTarget "A bone development disease that results in defective ossification of located in bone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome"^^xsd:string, "url:http://en.wikipedia.org/wiki/Ciliopathy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1935 ; owl:annotatedTarget "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trichomoniasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1947 ; owl:annotatedTarget "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cholecystitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1949 ; owl:annotatedTarget "A cholangitis that is characterized by an inflammation that is located in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21415195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1962 ; owl:annotatedTarget "A female reproductive system disease that is located_in the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=45687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1963 ; owl:annotatedTarget "A fallopian tube cancer that is located_in the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050704 ; owl:annotatedTarget "An electroclinical syndrome with onset in childhood between one and 12 years of age."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1964 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20191300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1965 ; owl:annotatedTarget "A fallopian tube cancer that dervies_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1967 ; owl:annotatedTarget "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_palsy"^^xsd:string, "url:http://www.brainandspinalcord.org/cerebral-palsy/index.html"^^xsd:string, "url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1969 ; owl:annotatedTarget "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1970 ; owl:annotatedTarget "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24557435"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1973 ; owl:annotatedTarget "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1974 ; owl:annotatedTarget "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24736228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1975 ; owl:annotatedTarget "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1982 ; owl:annotatedTarget "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mononegavirales"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1983 ; owl:annotatedTarget "A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=529764"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1993 ; owl:annotatedTarget "A colorectal cancer that is located_in the rectum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23712252"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1995 ; owl:annotatedTarget "A sarcoma and malignant tumor of rectum that is located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1996 ; owl:annotatedTarget "A rectum cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_1999 ; owl:annotatedTarget "A otosalpingitis which is persistent and long-lasting."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2000 ; owl:annotatedTarget "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2001 ; owl:annotatedTarget "A nervous system benign neoplasm that is characterized as a nerve tissue tumor."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ats.ctsnetjournals.org/cgi/content/full/82/5/1900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2005 ; owl:annotatedTarget "A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Connective_tissue"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_201 ; owl:annotatedTarget "A musculoskeletal system cancer that is located_in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nezelof_syndrome"^^xsd:string, "url:https://meshb.nlm.nih.gov/record/ui?ui=C536288"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2012 ; owl:annotatedTarget "A T cell deficiency that results from the disfunction or underdevelopment of the thymus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string ; a owl:Axiom ; rdfs:comment "JA:Epilepsy_Genetics_Kiel"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050705 ; owl:annotatedTarget "An electroclinical syndrome with onset in adolescence and adulthood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.agcf.org.au/gestational-trophoblastic-diseases"^^xsd:string, "url:https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26156670,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2021 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the placenta."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2024 ; owl:annotatedTarget "A gestational choriocarcinoma that is located_in the placenta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gestational_choriocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2025 ; owl:annotatedTarget "A choriocarcicoma that develops in the presence of a preceding gestational event."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Exostosis"^^xsd:string, "url:http://medical-dictionary.thefreedictionary.com/exostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_203 ; owl:annotatedTarget "A hyperostosis that involves formation of new bone on the surface of preexisting bone."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2030 ; owl:annotatedTarget "A cognitive disorder that involves an excessive, irrational dread of everyday situations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050706 ; owl:annotatedTarget "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Communication_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2033 ; owl:annotatedTarget "A specific developmental disorder that involves specific developmental disorders of speech and language."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebral_softening"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2034 ; owl:annotatedTarget "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Enthesopathy"^^xsd:string, "url:https://www.orthomedctr.com/enthesopathy.php"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_204 ; owl:annotatedTarget "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepatitis_B#Transmission"^^xsd:string, "url:http://www.cdc.gov/hepatitis/HBV/index.htm"^^xsd:string, "url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2043 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24099057"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050708 ; owl:annotatedTarget "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/hepatitis/HDV/index.htm"^^xsd:string, "url:http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2047 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2048 ; owl:annotatedTarget "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_205 ; owl:annotatedTarget "A bone remodeling disease that results in an abnormal growth of located in bone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2050 ; owl:annotatedTarget "A maxillary sinusitis which lasts for less than 4 weeks."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string, "url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2051 ; owl:annotatedTarget "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2055 ; owl:annotatedTarget "An anxiety disorder which results from a traumatic experience that results in psychological trauma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ohtahara_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050709 ; owl:annotatedTarget "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2058 ; owl:annotatedTarget "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vulvar_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2059 ; owl:annotatedTarget "A female reproductive system disease that is located_in the vulva."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html"^^xsd:string, "url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses"^^xsd:string, "url:http://www.mheresearchfoundation.org/"^^xsd:string, "url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_206 ; owl:annotatedTarget "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2060 ; owl:annotatedTarget "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Syringoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2064 ; owl:annotatedTarget "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2066 ; owl:annotatedTarget "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24342664"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2072 ; owl:annotatedTarget "A vulva cancer that has_material_basis in squamous tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14714720"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2075 ; owl:annotatedTarget "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24342664"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2076 ; owl:annotatedTarget "A vulva cancer that has_material_basis in glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2080 ; owl:annotatedTarget "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Constipation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19647687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2089 ; owl:annotatedTarget "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2093 ; owl:annotatedTarget "A vulva cancer that has_material_basis in melanocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25816393"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2096 ; owl:annotatedTarget "A vulva cancer that has_material_basis in connective tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26971063"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2097 ; owl:annotatedTarget "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2098 ; owl:annotatedTarget "A vulva carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Calcaneal_spur"^^xsd:string, "url:http://www.medterms.com/script/main/art.asp?articlekey=7094"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_210 ; owl:annotatedTarget "An exostosis that results_in an abnormal growth located_in calcaneus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2101 ; owl:annotatedTarget "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/myotonia-congenita/"^^xsd:string, "url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2106 ; owl:annotatedTarget "A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres."^^xsd:string . [] oboInOwl:hasDbXref "ls:IEDB"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2108 ; owl:annotatedTarget "An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2112 ; owl:annotatedTarget "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coccidiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2113 ; owl:annotatedTarget "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf"^^xsd:string, "url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2115 ; owl:annotatedTarget "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/6457/disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2120 ; owl:annotatedTarget "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ectodermal_dysplasia"^^xsd:string, "url:https://medlineplus.gov/ency/article/001469.htm"^^xsd:string, "url:https://www.omim.org/entry/305100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2121 ; owl:annotatedTarget "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2122 ; owl:annotatedTarget "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tularemia/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2123 ; owl:annotatedTarget "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Germinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2127 ; owl:annotatedTarget "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2129 ; owl:annotatedTarget "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12170093"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2132 ; owl:annotatedTarget "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12170093"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2133 ; owl:annotatedTarget "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4008795"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040051 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2142 ; owl:annotatedTarget "An urethral benign neoplasm that derives_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8764743"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2143 ; owl:annotatedTarget "An ovarian cancer that derives_from mesothelial tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23627408"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2145 ; owl:annotatedTarget "An ovarian cancer that is characterized by cystic structure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21740740"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2146 ; owl:annotatedTarget "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2148 ; owl:annotatedTarget "An urogenital tuberculosis that results_in inflammtion located_in ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urogenital_tuberculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2149 ; owl:annotatedTarget "An extrapulmonary tuberculosis that is located_in urogenital system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23905454"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2150 ; owl:annotatedTarget "An ovarian cancer that arises_from lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/0046817791902054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2151 ; owl:annotatedTarget "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ovarian_cancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2152 ; owl:annotatedTarget "An ovarian cancer that is derives_from ovarian surface epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18260155"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2153 ; owl:annotatedTarget "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wilms%27_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2154 ; owl:annotatedTarget "A kidney cancer that affects the kidneys and typically located_in children."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency"^^xsd:string, "url:http://omim.org/entry/210200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050710 ; owl:annotatedTarget "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2156 ; owl:annotatedTarget "An ovarian cancer that originates in the germ (egg) cells of the ovary."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nidcr.nih.gov/health-info/tooth-decay"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_216 ; owl:annotatedTarget "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21524046"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2170 ; owl:annotatedTarget "A vaginal disease that is characterized by inflammation of the vagina."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eye"^^xsd:string, "url:http://en.wikipedia.org/wiki/Eye_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2174 ; owl:annotatedTarget "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amelogenesis_imperfecta"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2187 ; owl:annotatedTarget "A dental enamel hypoplasia characterized by abnormal enamel formation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aceruloplasminemia"^^xsd:string, "url:http://omim.org/entry/604290?search=604290&highlight=604290"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050711 ; owl:annotatedTarget "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=44237"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_219 ; owl:annotatedTarget "A colorectal cancer that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_221 ; owl:annotatedTarget "A perichondritis of auricle with a sudden onset and a short course."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://omim.org/entry/613225"^^xsd:string, "url:http://omim.org/entry/613235"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2211 ; owl:annotatedTarget "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://omim.org/entry/227500"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2215 ; owl:annotatedTarget "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10706630"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8481514"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8703016"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9616133"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2217 ; owl:annotatedTarget "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2218 ; owl:annotatedTarget "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency"^^xsd:string, "url:http://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050712 ; owl:annotatedTarget "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16463284"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2014236"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9160670"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2219 ; owl:annotatedTarget "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_222 ; owl:annotatedTarget "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/factor-x-deficiency/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2222 ; owl:annotatedTarget "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/604377"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050713 ; owl:annotatedTarget "A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2224 ; owl:annotatedTarget "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bloodjournal.org/content/114/5/937.long"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/myeloproliferative"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2226 ; owl:annotatedTarget "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thrombocytosis"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2228 ; owl:annotatedTarget "A blood platelet disease that is characterized by the presence of high platelet counts in the blood."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency"^^xsd:string, "url:https://www.omim.org/entry/612416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2229 ; owl:annotatedTarget "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050715 ; owl:annotatedTarget "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/234000"^^xsd:string, "url:https://rarediseases.org/rare-diseases/factor-xii-deficiency/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2231 ; owl:annotatedTarget "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epilepsy"^^xsd:string, "url:http://en.wikipedia.org/wiki/Focal_epilepsy"^^xsd:string, "url:http://www.aafp.org/afp/2001/0701/p91.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2234 ; owl:annotatedTarget "An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/prothrombin-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30306070"^^xsd:string, "url:https://www.omim.org/entry/613679"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2235 ; owl:annotatedTarget "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2236 ; owl:annotatedTarget "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Transient_ischemic_attack"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_224 ; owl:annotatedTarget "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18385497"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050716 ; owl:annotatedTarget "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondylosis"^^xsd:string, "url:http://www.mayoclinic.com/health/cervical-spondylosis/DS00697"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm"^^xsd:string, "url:http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means"^^xsd:string, "url:http://www.spineuniverse.com/conditions/spondylosis/spondylosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2247 ; owl:annotatedTarget "An bone structure disease that involves degeneration between vertebra located_in vertebral column."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_225 ; owl:annotatedTarget "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasDbXref" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasDbXref ; owl:annotatedTarget "Reference database or publication source."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21910240"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050717 ; owl:annotatedTarget "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2253 ; owl:annotatedTarget "A uterine disease that is located_in the cervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteochondrodysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2256 ; owl:annotatedTarget "A bone development disease that results_in defective development of cartilage or bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ankylosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_227 ; owl:annotatedTarget "Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2271 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050718 ; owl:annotatedTarget "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2272 ; owl:annotatedTarget "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26001874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2273 ; owl:annotatedTarget "A female reproductive system disease that is characterized by inflammation of the vagina and vulva."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pharyngitis"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2275 ; owl:annotatedTarget "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nature.com/subjects/gonadal-disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2277 ; owl:annotatedTarget "An endocrine system disease that is located_in the gonads."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2280 ; owl:annotatedTarget "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.09d&code=C112190&ns=ncit&type=properties&key=null&b=1&n=0&vse=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2282 ; owl:annotatedTarget "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Female_reproductive_system"^^xsd:string, "url:http://en.wikipedia.org/wiki/Reproductive_system_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_229 ; owl:annotatedTarget "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/B_vitamins"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19732866"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050719 ; owl:annotatedTarget "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leptospirosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2297 ; owl:annotatedTarget "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primary_lateral_sclerosis"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_230 ; owl:annotatedTarget "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondylolysis"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx"^^xsd:string, "url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053"^^xsd:string, "url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2300 ; owl:annotatedTarget "A bone structure disease that involves a defect located_in lumbar vertebral column."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2303 ; owl:annotatedTarget "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Motor_neuron_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_231 ; owl:annotatedTarget "A neurodegenerative disease that is located_in the motor neurones."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nocardiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2312 ; owl:annotatedTarget "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis"^^xsd:string, "url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2314 ; owl:annotatedTarget "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brain_ischemia"^^xsd:string, "url:https://www.columbianeurosurgery.org/conditions/cerebral-ischemia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2316 ; owl:annotatedTarget "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand."^^xsd:string . [] oboInOwl:hasDbXref "url:https://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2320 ; owl:annotatedTarget "A lung disease that is characterized by narrowing of pulmonary airways."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/215241-overview"^^xsd:string, "url:http://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html#"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2324 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050720 ; owl:annotatedTarget "An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2326 ; owl:annotatedTarget "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2327 ; owl:annotatedTarget "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15021249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050721 ; owl:annotatedTarget "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2328 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm"^^xsd:string, "url:http://www.cdc.gov/rotavirus/about_rotavirus.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2329 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Metastatic_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2334 ; owl:annotatedTarget "A carcinoma that is able to grow at sites distant from the primary site of origin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2338 ; owl:annotatedTarget "A jaw cancer and mandibular disease that affects your lower jawbone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Crouzon_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/crouzon-syndrome"^^xsd:string, "url:http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm"^^xsd:string, "url:http://www.faces-cranio.org/Disord/Crouzon.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2339 ; owl:annotatedTarget "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366"^^xsd:string, "url:http://www.omim.org/entry/601815"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050722 ; owl:annotatedTarget "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_234 ; owl:annotatedTarget "A colon carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Craniosynostosis"^^xsd:string, "url:http://www.chw.org/display/router.asp?DocID=22502"^^xsd:string, "url:http://www.mayoclinic.com/health/craniosynostosis/DS00959"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2340 ; owl:annotatedTarget "A synostosis that results_in premature fusion located_in skull."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blood_protein"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2345 ; owl:annotatedTarget "An inherited metabolic disorder that involves plasma protein metabolism malfunction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arteriosclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2349 ; owl:annotatedTarget "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/"^^xsd:string, "url:http://www.omim.org/entry/610992?search=610992&highlight=610992"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050723 ; owl:annotatedTarget "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_235 ; owl:annotatedTarget "An intestinal benign neoplasm that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hemochromatosis"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2352 ; owl:annotatedTarget "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myelophthisic_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2354 ; owl:annotatedTarget "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anemia"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2355 ; owl:annotatedTarget "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Post-thrombotic_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21239797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2364 ; owl:annotatedTarget "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6296214"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040052 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/PSPH"^^xsd:string, "url:http://www.omim.org/entry/614023"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050724 ; owl:annotatedTarget "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2365 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm"^^xsd:string, "url:http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2366 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gangliosidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2368 ; owl:annotatedTarget "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_elliptocytosis"^^xsd:string, "url:http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2373 ; owl:annotatedTarget "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_sclerosis"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/multiple-sclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2377 ; owl:annotatedTarget "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2378 ; owl:annotatedTarget "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2381 ; owl:annotatedTarget "A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Kernicterus"^^xsd:string, "url:https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2382 ; owl:annotatedTarget "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neonatal_jaundice"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2383 ; owl:annotatedTarget "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2384 ; owl:annotatedTarget "A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1)."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=445074"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2394 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://scialert.net/fulltext/?doi=ijcr.2008.110.126"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2401 ; owl:annotatedTarget "A vulva cancer that is located_in the clitoris."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2409 ; owl:annotatedTarget "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18"^^xsd:string, "url:https://radiopaedia.org/articles/gangliocytoma"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2426 ; owl:annotatedTarget "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glomus_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2431 ; owl:annotatedTarget "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22169549"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2441 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the frontal sinus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acromegaly"^^xsd:string, "url:http://www.acromegaly.org/"^^xsd:string, "url:http://www.mayoclinic.com/health/acromegaly/DS00478"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm"^^xsd:string, "url:http://www.umm.edu/endocrin/acromegaly.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2449 ; owl:annotatedTarget "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thrombophilia"^^xsd:string, "url:https://www.nhs.uk/conditions/thrombophilia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2452 ; owl:annotatedTarget "A blood coagulation disease that is characterized by an increased tendency to form clots."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://dro.hs.columbia.edu/angbleph.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2455 ; owl:annotatedTarget "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conjunctivitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2456 ; owl:annotatedTarget "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2468 ; owl:annotatedTarget "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2473 ; owl:annotatedTarget "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2476 ; owl:annotatedTarget "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26643594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2479 ; owl:annotatedTarget "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26026331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_248 ; owl:annotatedTarget "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2491 ; owl:annotatedTarget "A neuropathy that involves damage to nerves of the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Angiodysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2494 ; owl:annotatedTarget "A vascular disease that is characterized as a small vascular malformation of the gut."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2503 ; owl:annotatedTarget "A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2508 ; owl:annotatedTarget "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2510 ; owl:annotatedTarget "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19533801"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8658145"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9931336"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2512 ; owl:annotatedTarget "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II"^^xsd:string, "url:http://www.omim.org/entry/276600?search=276600&highlight=276600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050725 ; owl:annotatedTarget "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2513 ; owl:annotatedTarget "A skin carcinoma affecting basal cells."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459134/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22611692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_252 ; owl:annotatedTarget "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/prostatecancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Prostate_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2526 ; owl:annotatedTarget "A prostate carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nephrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2527 ; owl:annotatedTarget "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://health.google.com/health/ref/Primary+myelofibrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2528 ; owl:annotatedTarget "A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050726 ; owl:annotatedTarget "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blood_cancer"^^xsd:string, "url:http://www.cancer.gov/dictionary/?CdrID=45708"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2531 ; owl:annotatedTarget "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2538 ; owl:annotatedTarget "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.webmd.com/epilepsy/extratemporal-cortical-resection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2544 ; owl:annotatedTarget "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2548 ; owl:annotatedTarget "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemangioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_255 ; owl:annotatedTarget "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26711694/"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2556 ; owl:annotatedTarget "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2557 ; owl:annotatedTarget "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia"^^xsd:string, "url:http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050727 ; owl:annotatedTarget "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opiate_dependency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2559 ; owl:annotatedTarget "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opioid_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2560 ; owl:annotatedTarget "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular"^^xsd:string, "url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy"^^xsd:string, "url:http://www.omim.org/entry/217800?search=217800&highlight=217800"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11017086"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17093400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2565 ; owl:annotatedTarget "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23584805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2568 ; owl:annotatedTarget "A cervix disease that is characterized by inflammation of the cervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2571 ; owl:annotatedTarget "A histiocytosis that is characterized by clonal proliferation of Langerhans cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Barbiturate_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2575 ; owl:annotatedTarget "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050728 ; owl:annotatedTarget "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15679822"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2580 ; owl:annotatedTarget "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22229330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2581 ; owl:annotatedTarget "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2583 ; owl:annotatedTarget "A B cell deficiency that is caused by a reduction in all types of gamma globulins."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19066979"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2590 ; owl:annotatedTarget "A nephrotic syndrome that has_material_basis_in genetic mutations."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050729 ; owl:annotatedTarget "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Larynx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2596 ; owl:annotatedTarget "A respiratory system cancer that is located_in the larynx."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050730 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pancreatic_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_26 ; owl:annotatedTarget "An endocrine system disease that is located_in the pancreas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2600 ; owl:annotatedTarget "A larynx cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/B12_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050731 ; owl:annotatedTarget "A vitamin metabolic disorder that results from low blood levels of vitamin B12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2602 ; owl:annotatedTarget "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenomyoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2609 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8566016"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040053 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger cobalt atom."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb"^^xsd:string, "url:https://www.omim.org/entry/236270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050732 ; owl:annotatedTarget "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf"^^xsd:string, "url:https://www.omim.org/entry/250940"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050733 ; owl:annotatedTarget "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medlineplus/papilloma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2615 ; owl:annotatedTarget "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14515653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2616 ; owl:annotatedTarget "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemangiopericytoma"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_262 ; owl:annotatedTarget "A kidney cancer which is manifested in the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autonomic_nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2621 ; owl:annotatedTarget "A peripheral nervous system neoplasm that is located_in the autonomic nervous system."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/261000?search=261000&highlight=261000"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14695536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050734 ; owl:annotatedTarget "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kidney_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_263 ; owl:annotatedTarget "A urinary system cancer that is located_in the kidney."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2632 ; owl:annotatedTarget "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cystadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2634 ; owl:annotatedTarget "An adenoma that forms a cyst."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brenner_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2636 ; owl:annotatedTarget "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2639 ; owl:annotatedTarget "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemangiopericytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_264 ; owl:annotatedTarget "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26374222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2640 ; owl:annotatedTarget "An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12440821"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2641 ; owl:annotatedTarget "A monodermal teratoma that has_material_basis in germ cells that are highly specialized and is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2645 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in mesothelium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK536947/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2649 ; owl:annotatedTarget "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://radiology.rsna.org/content/235/1/106.full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_265 ; owl:annotatedTarget "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2656 ; owl:annotatedTarget "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Dermoid_cyst"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2658 ; owl:annotatedTarget "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23905455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2660 ; owl:annotatedTarget "A benign teratoma that is characterized by the presence of cysts or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/myoepithelioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2661 ; owl:annotatedTarget "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2671 ; owl:annotatedTarget "A carcinoma that derives_from transitional epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27831959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2673 ; owl:annotatedTarget "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9669345"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2678 ; owl:annotatedTarget "A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30093472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_268 ; owl:annotatedTarget "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant"^^xsd:string, "url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050735 ; owl:annotatedTarget "A monogenic disease that has_material_basis_in muations in genes on the X chromosome."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/mesh/68000232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2683 ; owl:annotatedTarget "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21146736"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2687 ; owl:annotatedTarget "A sarcoma that is located_in the skin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Lymphangiosarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9796078"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2689 ; owl:annotatedTarget "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29789793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2691 ; owl:annotatedTarget "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Leydig_cell_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2696 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cancersupportivecare.com/liver.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_270 ; owl:annotatedTarget "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2700 ; owl:annotatedTarget "An adenofibroma that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Synovitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2703 ; owl:annotatedTarget "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2708 ; owl:annotatedTarget "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2710 ; owl:annotatedTarget "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/bloom-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Bloom_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10823897"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9482582"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2717 ; owl:annotatedTarget "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hemopneumothorax"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2718 ; owl:annotatedTarget "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21055687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_272 ; owl:annotatedTarget "A vascular disease that is located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acrodermatitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2722 ; owl:annotatedTarget "A dermatitis that selectively affects the hands and feet."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatitis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/eczema.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2723 ; owl:annotatedTarget "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2729 ; owl:annotatedTarget "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/epidermolysis-bullosa/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2730 ; owl:annotatedTarget "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2017/0601/p717.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2731 ; owl:annotatedTarget "A bullous skin disease that is characterized by fluid filled blisters."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21378985"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21378989"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9714016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2736 ; owl:annotatedTarget "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2738 ; owl:annotatedTarget "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2739 ; owl:annotatedTarget "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2741 ; owl:annotatedTarget "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string, "url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050736 ; owl:annotatedTarget "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2742 ; owl:annotatedTarget "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Narcissistic_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2745 ; owl:annotatedTarget "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism"^^xsd:string, "url:http://en.wikipedia.org/wiki/Glycogen_storage_disease"^^xsd:string, "url:http://www.slideshare.net/anjupaed/glcogen-storage-disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2747 ; owl:annotatedTarget "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I"^^xsd:string, "url:http://en.wikipedia.org/wiki/Von_Gierke%27s_disease"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1312/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2749 ; owl:annotatedTarget "A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2752 ; owl:annotatedTarget "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2754 ; owl:annotatedTarget "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://hivinsite.ucsf.edu/InSite?page=md-agl-mac"^^xsd:string, "url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/mycobacteriumavium_t.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2755 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2762 ; owl:annotatedTarget "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2763 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the ethmoid sinus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2766 ; owl:annotatedTarget "An ethmoid sinus cancer that derives from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2768 ; owl:annotatedTarget "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.tsa-usa.org/Medical/definitions.html"^^xsd:string, "url:https://www.cdc.gov/ncbddd/tourette/diagnosis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2769 ; owl:annotatedTarget "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2772 ; owl:annotatedTarget "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation."^^xsd:string . [] oboInOwl:hasDbXref "url:http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2775 ; owl:annotatedTarget "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30844202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2776 ; owl:annotatedTarget "A bone cancer that is located_in almost exclusively in the long bones."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2784 ; owl:annotatedTarget "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://omim.org/entry/220200"^^xsd:string, "url:https://en.wikipedia.org/wiki/Dandy-Walker_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/dandy-walker-malformation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2785 ; owl:annotatedTarget "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebellum"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15377747"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2786 ; owl:annotatedTarget "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ciliate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2788 ; owl:annotatedTarget "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Protozoan"^^xsd:string, "url:http://en.wikipedia.org/wiki/Protozoan_infection"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2789 ; owl:annotatedTarget "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050737 ; owl:annotatedTarget "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Necator_americanus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2790 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hookworm"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2791 ; owl:annotatedTarget "A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2797 ; owl:annotatedTarget "A pneumonia located_in the lung parenchyma of unknown cause."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2799 ; owl:annotatedTarget "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_28 ; owl:annotatedTarget "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2800 ; owl:annotatedTarget "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2801 ; owl:annotatedTarget "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7444839"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040054 ; owl:annotatedTarget "An allergic asthma that has_allergic_trigger cobalt atom."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2810 ; owl:annotatedTarget "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://medind.nic.in/iav/t03/i2/iavt03i2p72.pdf"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Hyphomycetes_%28hyaline%29/Geotrichum/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2832 ; owl:annotatedTarget "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK430901/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK7223/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2841 ; owl:annotatedTarget "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Long_QT_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2843 ; owl:annotatedTarget "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bruxism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2846 ; owl:annotatedTarget "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hairy_cell_leukemia"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30723113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_285 ; owl:annotatedTarget "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hyperthyroxinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2855 ; owl:annotatedTarget "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2862 ; owl:annotatedTarget "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2870 ; owl:annotatedTarget "An endometrial carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050738 ; owl:annotatedTarget "A monogenic disease that has_material_basis_in muations on the Y chromosome."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/endometrial"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2871 ; owl:annotatedTarget "A endometrial cancer that is located_in the tissue lining the uterus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2876 ; owl:annotatedTarget "A laryngeal carcinoma that has_material_basis_in squamous cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S1726490109701893"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2877 ; owl:annotatedTarget "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_288 ; owl:annotatedTarget "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2880 ; owl:annotatedTarget "A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://health.ccm.net/faq/1032-adenoma-of-the-prostate-definition"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24649766"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2883 ; owl:annotatedTarget "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2887 ; owl:annotatedTarget "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/?title=Endometriosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20574791"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_289 ; owl:annotatedTarget "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2891 ; owl:annotatedTarget "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14675699"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2892 ; owl:annotatedTarget "A cervix carcinoma that is located_in the exocervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cervical_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2893 ; owl:annotatedTarget "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabditida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2906 ; owl:annotatedTarget "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Goldenhar_syndrome"^^xsd:string, "url:http://www.faces-cranio.org/Disord/Golden.htm"^^xsd:string, "url:http://www.healthline.com/galecontent/goldenhar-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2907 ; owl:annotatedTarget "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1532/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2908 ; owl:annotatedTarget "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nhs.uk/conditions/acute-pancreatitis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2913 ; owl:annotatedTarget "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string, "url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050739 ; owl:annotatedTarget "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Immune_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2914 ; owl:annotatedTarget "A disease of anatomical entity that is located_in the immune system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Type_IV_hypersensitivity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2916 ; owl:annotatedTarget "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cryoglobulinemia"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2917 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paraproteinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2918 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glomerulonephritis"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2921 ; owl:annotatedTarget "A nephritis that causes inflammation of the glomeruli located_in kidney."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome"^^xsd:string, "url:http://omim.org/entry/149000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2926 ; owl:annotatedTarget "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Newcastle_disease"^^xsd:string, "url:http://www.daff.gov.au/animal-plant-health/pests-diseases-weeds/animal/newcastle"^^xsd:string, "url:http://www.inspection.gc.ca/english/sci/bio/anima/disemala/newcaste.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2929 ; owl:annotatedTarget "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.ch/viralzone/all_by_species/84.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2930 ; owl:annotatedTarget "A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/600096"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050740 ; owl:annotatedTarget "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aleutian_Disease"^^xsd:string, "url:http://www.cdc.gov/eid/content/15/12/2040.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2934 ; owl:annotatedTarget "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25129365"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2935 ; owl:annotatedTarget "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parvoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2936 ; owl:annotatedTarget "A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2937 ; owl:annotatedTarget "A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/diseases/ebv.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2938 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpesviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2939 ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bronchiolitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2942 ; owl:annotatedTarget "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Poxviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2943 ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Alcohol_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050741 ; owl:annotatedTarget "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2945 ; owl:annotatedTarget "A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coronavirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2946 ; owl:annotatedTarget "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2947 ; owl:annotatedTarget "A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coronaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2948 ; owl:annotatedTarget "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nidovirales"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2949 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=444991"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_295 ; owl:annotatedTarget "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Orbivirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2950 ; owl:annotatedTarget "A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nicotine_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050742 ; owl:annotatedTarget "A substance dependence that is characterized by a physical dependence on nicotine."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2957 ; owl:annotatedTarget "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2959 ; owl:annotatedTarget "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=393800"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44062"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21919697"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050743 ; owl:annotatedTarget "A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2960 ; owl:annotatedTarget "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2961 ; owl:annotatedTarget "A monogenic disease that results from a reduced functionality of DNA repair."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cockayne_syndrome"^^xsd:string, "url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2962 ; owl:annotatedTarget "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2973 ; owl:annotatedTarget "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27815184"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2977 ; owl:annotatedTarget "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2978 ; owl:annotatedTarget "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050744 ; owl:annotatedTarget "A non-Hodgkin lymphoma involving aberrant T-cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_298 ; owl:annotatedTarget "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/IgA_nephropathy"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2986 ; owl:annotatedTarget "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2987 ; owl:annotatedTarget "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2988 ; owl:annotatedTarget "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28487884"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050745 ; owl:annotatedTarget "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_299 ; owl:annotatedTarget "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050746 ; owl:annotatedTarget "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2994 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2997 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050747 ; owl:annotatedTarget "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=445090"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2998 ; owl:annotatedTarget "A male reproductive system cancer that is located_in the testicles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Granulosa_cell_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_2999 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3 ; owl:annotatedTarget "A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometrioid_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3001 ; owl:annotatedTarget "A female reproductive organ cancer that is characterized by a resemblance to endometrium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25097477"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040055 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger palladium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26976990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3002 ; owl:annotatedTarget "An ovarian cancer that has_material_basis in nuroendocrine cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nipple_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3003 ; owl:annotatedTarget "A breast benign neoplasm that is located_in the nipple."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3004 ; owl:annotatedTarget "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/breastductal"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45085"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3007 ; owl:annotatedTarget "A breast carcinoma that derives_from the lining of milk ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25343550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3008 ; owl:annotatedTarget "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3009 ; owl:annotatedTarget "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3010 ; owl:annotatedTarget "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3011 ; owl:annotatedTarget "A breast cancer that is believed to arises_from Schwann cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3012 ; owl:annotatedTarget "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23025963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3013 ; owl:annotatedTarget "A breast benign neoplasm that is located_in the breast ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S2214330016300256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3016 ; owl:annotatedTarget "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3017 ; owl:annotatedTarget "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://allpsych.com/disorders/substance/substanceabuse.html"^^xsd:string, "url:http://en.wikipedia.org/wiki/Substance_abuse"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_302 ; owl:annotatedTarget "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://radiology.rsna.org/content/232/2/554.full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3025 ; owl:annotatedTarget "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.psychologytoday.com/us/conditions/substance-related-disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_303 ; owl:annotatedTarget "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm"^^xsd:string, "url:http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3030 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3039 ; owl:annotatedTarget "A cecum carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3042 ; owl:annotatedTarget "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=562554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050748 ; owl:annotatedTarget "A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3044 ; owl:annotatedTarget "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098720/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8150635"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3047 ; owl:annotatedTarget "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/"^^xsd:string, "url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3049 ; owl:annotatedTarget "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_305 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050749 ; owl:annotatedTarget "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3052 ; owl:annotatedTarget "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paratyphoid_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3055 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paramyxoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3056 ; owl:annotatedTarget "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme"^^xsd:string, "url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3068 ; owl:annotatedTarget "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Astrocytoma"^^xsd:string, "url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3069 ; owl:annotatedTarget "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malignant_glioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3070 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gliosarcoma"^^xsd:string, "url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3071 ; owl:annotatedTarget "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050750 ; owl:annotatedTarget "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glioblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3073 ; owl:annotatedTarget "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Giant-cell_glioblastoma"^^xsd:string, "url:http://neuro-oncology.oxfordjournals.org/content/11/6/833.full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3074 ; owl:annotatedTarget "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma"^^xsd:string, "url:http://www.abta.org/brain-tumor-information/types-of-tumors/astrocytoma.html"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45591"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3078 ; owl:annotatedTarget "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050751 ; owl:annotatedTarget "A T-cell lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3082 ; owl:annotatedTarget "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28513453/"^^xsd:string, "url:https://www.nhlbi.nih.gov/health-topics/copd"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3083 ; owl:annotatedTarget "An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cdc.gov/HAI/organisms/acinetobacter.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3091 ; owl:annotatedTarget "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/608627"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050752 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nervous_system_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3093 ; owl:annotatedTarget "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3095 ; owl:annotatedTarget "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3103 ; owl:annotatedTarget "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nematode"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3106 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Toxascaris_leonina"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3107 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18367882"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3108 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3109 ; owl:annotatedTarget "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.sciencedirect.com/science/article/pii/S1741940905000841"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3110 ; owl:annotatedTarget "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cystadenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3111 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Papillary_adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3112 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:http://breastcancer.about.com/od/types/p/papillary_ca.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3113 ; owl:annotatedTarget "A carcinoma that is derives_from epithelial cells with finger like projections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ukpmc.ac.uk/abstract/MED/16025006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3114 ; owl:annotatedTarget "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebellar_ataxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050753 ; owl:annotatedTarget "A hereditary ataxia that is characterized by ataxia originating in the cerebellum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepatobiliary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3117 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm located_in the hepatobiliary system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3118 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the liver and/or biliary tract."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050754 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3119 ; owl:annotatedTarget "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1154/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050755 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gallbladder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3121 ; owl:annotatedTarget "A biliary tract cancer that is located_in the gallbladder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3125 ; owl:annotatedTarget "A syndrome that is characterized by tumors in at least two endocrine glands."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3127 ; owl:annotatedTarget "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3132 ; owl:annotatedTarget "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Porphyria"^^xsd:string, "url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3133 ; owl:annotatedTarget "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30128796"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3140 ; owl:annotatedTarget "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mucinosis"^^xsd:string, "url:https://www.dermnetnz.org/topics/cutaneous-mucinoses/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3141 ; owl:annotatedTarget "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cutis_laxa"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cutis-laxa"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3144 ; owl:annotatedTarget "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/617347"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3145 ; owl:annotatedTarget "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipid_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3146 ; owl:annotatedTarget "An inherited metabolic disorder that involves the creation and degradation of lipids."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome"^^xsd:string, "url:http://omim.org/entry/304700"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1216/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050757 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3151 ; owl:annotatedTarget "A skin carcinoma that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3156 ; owl:annotatedTarget "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3162 ; owl:annotatedTarget "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=44506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3163 ; owl:annotatedTarget "A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Metabolic_acidosis"^^xsd:string, "url:https://medlineplus.gov/ency/article/000335.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050758 ; owl:annotatedTarget "An acquired metabolic disease that characterized by excessive production of acid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3168 ; owl:annotatedTarget "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Papilloma"^^xsd:string, "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3173 ; owl:annotatedTarget "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1466/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050759 ; owl:annotatedTarget "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3185 ; owl:annotatedTarget "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46257"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3187 ; owl:annotatedTarget "A brain glioma that has_material_basis_in oligodendrocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1108802"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040056 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger chromium atom."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nemaline_myopathy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3191 ; owl:annotatedTarget "A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Schwannoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty rdfs:comment ; owl:annotatedSource obo:DOID_3192 ; owl:annotatedTarget "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3193 ; owl:annotatedTarget "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2400975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3196 ; owl:annotatedTarget "A neurilemmoma with a predominantly cellular growth but no Verocay bodies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3197 ; owl:annotatedTarget "A neurilemmoma that is located_in the 12th cranial nerve."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3200 ; owl:annotatedTarget "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3209 ; owl:annotatedTarget "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050760 ; owl:annotatedTarget "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis"^^xsd:string, "url:http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_321 ; owl:annotatedTarget "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15627202"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2773936"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3476455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3210 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3211 ; owl:annotatedTarget "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17071802"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3213 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf"^^xsd:string, "url:http://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3215 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Myelitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_322 ; owl:annotatedTarget "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050762 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/219285-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_323 ; owl:annotatedTarget "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3234 ; owl:annotatedTarget "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.nejm.org/doi/full/10.1056/NEJM200103013440908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3240 ; owl:annotatedTarget "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipid_pneumonia"^^xsd:string, "url:http://www.ima.org.il/imaj/ar06jan-8.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3241 ; owl:annotatedTarget "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3246 ; owl:annotatedTarget "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3247 ; owl:annotatedTarget "A skeletal muscle cancer that arise from skeletal muscle progenitors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3251 ; owl:annotatedTarget "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26776454"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29468476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3252 ; owl:annotatedTarget "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3254 ; owl:annotatedTarget "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16896922"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22753090"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24415890"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050763 ; owl:annotatedTarget "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3258 ; owl:annotatedTarget "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma"^^xsd:string, "url:https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3259 ; owl:annotatedTarget "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ischemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_326 ; owl:annotatedTarget "A vascular disease that is characterized by a restriction in blood supply to tissues."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3261 ; owl:annotatedTarget "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3262 ; owl:annotatedTarget "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12955764"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15485525"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1717985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3263 ; owl:annotatedTarget "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/subacute.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3264 ; owl:annotatedTarget "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10398235"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050764 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chronic_granulomatous_disease"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstractare-diseases/byID/682/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3265 ; owl:annotatedTarget "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22476372"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3267 ; owl:annotatedTarget "An ovarian cystadenoma that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27244785"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3269 ; owl:annotatedTarget "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neuroacanthocytosis"^^xsd:string, "url:https://rarediseases.org/rare-diseases/neuroacanthocytosis/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1387/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050765 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/proliferative_type_fibrocystic_change_of_breast"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3274 ; owl:annotatedTarget "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/Thymoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Thymoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3275 ; owl:annotatedTarget "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thymus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3277 ; owl:annotatedTarget "An immune system cancer located_in the thymus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3284 ; owl:annotatedTarget "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3292 ; owl:annotatedTarget "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3293 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9382101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050766 ; owl:annotatedTarget "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3295 ; owl:annotatedTarget "A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg"^^xsd:string, "url:http://www.virologyj.com/content/6/1/151"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3296 ; owl:annotatedTarget "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3297 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vaccinia"^^xsd:string, "url:http://www.bt.cdc.gov/agent/smallpox/vaccination/live-virus.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3298 ; owl:annotatedTarget "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasExactSynonym ; owl:annotatedTarget "Exact synonym."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Frontonasal_dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050767 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gonadoblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3301 ; owl:annotatedTarget "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chordoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3302 ; owl:annotatedTarget "A notochordal cancer that derives_from cellular remnants of the notochord."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Notochord"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3303 ; owl:annotatedTarget "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germinoma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Germinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3304 ; owl:annotatedTarget "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3305 ; owl:annotatedTarget "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3306 ; owl:annotatedTarget "A germ cell cancer that occurs in many forms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Teratoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3307 ; owl:annotatedTarget "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/604273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050768 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3308 ; owl:annotatedTarget "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3309 ; owl:annotatedTarget "A dermatitis that is characterized by chronic itching or scaling."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3902/n-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050769 ; owl:annotatedTarget "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Central_nervous_system_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_331 ; owl:annotatedTarget "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Atopic_dermatitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3310 ; owl:annotatedTarget "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3312 ; owl:annotatedTarget "A mood disorder that involves alternating periods of mania and depression."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Angiomyolipoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9503504"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3314 ; owl:annotatedTarget "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3315 ; owl:annotatedTarget "A cell type benign neoplasm that is composed of lipocytes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31610670/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3319 ; owl:annotatedTarget "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_332 ; owl:annotatedTarget "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3321 ; owl:annotatedTarget "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/polycystic-liver-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050770 ; owl:annotatedTarget "A liver disease that is characterized by the presence of multiple cysts located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3322 ; owl:annotatedTarget "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/sandhoff-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3323 ; owl:annotatedTarget "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3324 ; owl:annotatedTarget "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367"^^xsd:string, "url:https://www.omim.org/entry/171300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050771 ; owl:annotatedTarget "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3331 ; owl:annotatedTarget "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Haemonchus_contortus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3332 ; owl:annotatedTarget "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_334 ; owl:annotatedTarget "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/001252.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3341 ; owl:annotatedTarget "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3342 ; owl:annotatedTarget "A bone disease that results_in inflammation of the located_in bone."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sialidosis"^^xsd:string, "url:https://en.wikipedia.org/wiki/Glycoproteinosis"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3343 ; owl:annotatedTarget "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Xanthoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3345 ; owl:annotatedTarget "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050772 ; owl:annotatedTarget "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteosarcoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=45395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3347 ; owl:annotatedTarget "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mesenchymal_cell"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK9549/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3350 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/"^^xsd:string, "url:https://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3354 ; owl:annotatedTarget "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3355 ; owl:annotatedTarget "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25097477"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040057 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger benzoic acid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Paraganglioma"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050773 ; owl:annotatedTarget "A pheochromocytoma that arises in extraadrenal sympathetic ganglia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3368 ; owl:annotatedTarget "A peripheral primitive neuroectodermal tumor that is located_in bone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=383924"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3369 ; owl:annotatedTarget "A connective tissue cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3371 ; owl:annotatedTarget "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Schwannoma"^^xsd:string, "url:https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_338 ; owl:annotatedTarget "A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050774 ; owl:annotatedTarget "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Liposarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3382 ; owl:annotatedTarget "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.rho.org/html/glossary.html"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3385 ; owl:annotatedTarget "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3388 ; owl:annotatedTarget "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3389 ; owl:annotatedTarget "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3390 ; owl:annotatedTarget "A keratosis characterized by abnormal thickening of the palms and the soles."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050775 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coronary_heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3393 ; owl:annotatedTarget "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Histiocytosis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3405 ; owl:annotatedTarget "A lymphatic system disease that is characterized by an excessive number of histiocytes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peripheral_vascular_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_341 ; owl:annotatedTarget "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infectious_canine_hepatitis"^^xsd:string, "url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3412 ; owl:annotatedTarget "A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alpha-mannosidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3413 ; owl:annotatedTarget "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7011032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050776 ; owl:annotatedTarget "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3418 ; owl:annotatedTarget "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inclusion_body_myositis"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3429 ; owl:annotatedTarget "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3431 ; owl:annotatedTarget "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3436 ; owl:annotatedTarget "A acute laryngitis which is caused by viral infection."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Joubert_syndrome"^^xsd:string, "url:http://omim.org/entry/213300?search=joubert&highlight=joubert"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050777 ; owl:annotatedTarget "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3437 ; owl:annotatedTarget "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3443 ; owl:annotatedTarget "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3447 ; owl:annotatedTarget "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Meckel_syndrome"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050778 ; owl:annotatedTarget "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3449 ; owl:annotatedTarget "A penile cancer that is located_in the skin or tissues of the penis."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/dictionary/uterus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_345 ; owl:annotatedTarget "A female reproductive system disease that is located_in the uterus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3450 ; owl:annotatedTarget "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/skin"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3451 ; owl:annotatedTarget "A skin cancer that is located_in tissues of the skin and develops from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://meshb.nlm.nih.gov/record/ui?ui=D020520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3454 ; owl:annotatedTarget "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cervical_ectropion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3456 ; owl:annotatedTarget "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.breastcancer.org/symptoms/types/ilc"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25849106"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3457 ; owl:annotatedTarget "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15843405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050779 ; owl:annotatedTarget "A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.virtualmedicalcentre.com/diseases.asp?did=696"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3458 ; owl:annotatedTarget "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3459 ; owl:annotatedTarget "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3463 ; owl:annotatedTarget "A thoracic disease that is located_in the breast."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3479 ; owl:annotatedTarget "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Blepharochalasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_348 ; owl:annotatedTarget "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1327/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1523/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050780 ; owl:annotatedTarget "A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3480 ; owl:annotatedTarget "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3481 ; owl:annotatedTarget "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29628173"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3482 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oxyurida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3485 ; owl:annotatedTarget "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cellulitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3488 ; owl:annotatedTarget "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ogden_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21700266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050781 ; owl:annotatedTarget "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3490 ; owl:annotatedTarget "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/turner-syndrome"^^xsd:string, "url:https://rarediseases.org/rare-diseases/turner-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3491 ; owl:annotatedTarget "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3492 ; owl:annotatedTarget "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3493 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/"^^xsd:string, "url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28949124"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050782 ; owl:annotatedTarget "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3495 ; owl:annotatedTarget "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Pancreatic_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3498 ; owl:annotatedTarget "A pancreatic adenocarcinoma that derives_from pancreatic duct cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string, "url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050783 ; owl:annotatedTarget "A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3500 ; owl:annotatedTarget "A gallbladder carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3502 ; owl:annotatedTarget "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3503 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3507 ; owl:annotatedTarget "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string, "url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050784 ; owl:annotatedTarget "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3521 ; owl:annotatedTarget "A sarcoma that affects children and is located_in the soft tissues of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Lateral_medullary_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3522 ; owl:annotatedTarget "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brainstem"^^xsd:string, "url:https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3523 ; owl:annotatedTarget "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebral_infarction"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3526 ; owl:annotatedTarget "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string, "url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050785 ; owl:annotatedTarget "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/central-core-disease/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23553484/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3529 ; owl:annotatedTarget "A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3532 ; owl:annotatedTarget "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Morbillivirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3533 ; owl:annotatedTarget "A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19267391"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19469843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3534 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19469843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3535 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8400900"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040058 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Choroid_plexus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3540 ; owl:annotatedTarget "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ventricular_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3541 ; owl:annotatedTarget "A cerebrum cancer that is located_in the cerebral ventricles."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/3026/disease/resources/1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19175065"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050786 ; owl:annotatedTarget "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24745684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_355 ; owl:annotatedTarget "A sarcoma that has_material_basis in mast cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44256"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14567019"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3559 ; owl:annotatedTarget "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Meningioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3565 ; owl:annotatedTarget "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3568 ; owl:annotatedTarget "A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Liver"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3571 ; owl:annotatedTarget "A hepatobiliary system cancer that is located_in the liver."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sertoli_cell_tumour"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3577 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21879333"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3578 ; owl:annotatedTarget "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pancreatic_cancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Pancreatic_duct"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3587 ; owl:annotatedTarget "A pancreatic carcinoma located_in the pancreatic duct."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome"^^xsd:string, "url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1469/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050787 ; owl:annotatedTarget "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Choriocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3594 ; owl:annotatedTarget "A placenta cancer that has_material_basis_in trophoblastic cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14614893"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3596 ; owl:annotatedTarget "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Toxic_encephalopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3602 ; owl:annotatedTarget "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wisegeek.com/what-is-a-mucinous-cystadenocarcinoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3603 ; owl:annotatedTarget "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3604 ; owl:annotatedTarget "An ovarian cystadenocarcinoma that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/ovarian_cystadenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3605 ; owl:annotatedTarget "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24487473"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3606 ; owl:annotatedTarget "An ovary adenocarcinoma that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3608 ; owl:annotatedTarget "An appendix carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3609 ; owl:annotatedTarget "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21890095"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_361 ; owl:annotatedTarget "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/mucincabr/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24305754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3610 ; owl:annotatedTarget "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26194704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3614 ; owl:annotatedTarget "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.spandidos-publications.com/10.3892/ol.2014.2737"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3615 ; owl:annotatedTarget "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Angiolipoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3616 ; owl:annotatedTarget "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050788 ; owl:annotatedTarget "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Central_nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3620 ; owl:annotatedTarget "A nervous system cancer that is located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3627 ; owl:annotatedTarget "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=445094"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_363 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the uterus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Beta-mannosidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3633 ; owl:annotatedTarget "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3635 ; owl:annotatedTarget "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome"^^xsd:string, "url:http://omim.org/entry/186570?search=186570&highlight=186570"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22326510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050789 ; owl:annotatedTarget "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3640 ; owl:annotatedTarget "A teratoma that is located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3649 ; owl:annotatedTarget "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_365 ; owl:annotatedTarget "A urinary system disease that is located_in the bladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lactic_acidosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3650 ; owl:annotatedTarget "A metabolic acidosis characterized by buildup of lactate."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://omim.org/entry/266150"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3651 ; owl:annotatedTarget "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leigh%27s_disease"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/leigh-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3652 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sialuria"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1164/"^^xsd:string, "url:http://www.omim.org/entry/269921"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3659 ; owl:annotatedTarget "A lysosomal storage disease characterized by increased sialic acid in the urine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3660 ; owl:annotatedTarget "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mastocytoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=410729"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3664 ; owl:annotatedTarget "A hematologic cancer that has_material_basis_in mast cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://vir.sgmjournals.org/cgi/content/full/91/6/1418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3667 ; owl:annotatedTarget "A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Picornaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3668 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/228900?search=228900&highlight=228900"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16222676"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050790 ; owl:annotatedTarget "A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Olfactory_nerve"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_367 ; owl:annotatedTarget "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3672 ; owl:annotatedTarget "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.childrenshospital.org/az/Site1526/mainpageS1526P0.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3674 ; owl:annotatedTarget "A embryonal cancer that is located in the kidney."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2336294/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3677 ; owl:annotatedTarget "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebrum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_368 ; owl:annotatedTarget "A supratentorial cancer that is located_in the cerebrum."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3687 ; owl:annotatedTarget "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3691 ; owl:annotatedTarget "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3692 ; owl:annotatedTarget "An anal canal cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3696 ; owl:annotatedTarget "A acute transudative otitis media which involves bloody effusion."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3697 ; owl:annotatedTarget "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3699 ; owl:annotatedTarget "A uterine ligament adenocarcinoma that produces mucin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome"^^xsd:string, "url:http://omim.org/entry/261550?search=261550&highlight=261550"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20352001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050791 ; owl:annotatedTarget "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Skin_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_37 ; owl:annotatedTarget "An integumentary system disease that is located_in skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26699941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3700 ; owl:annotatedTarget "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24199926"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3701 ; owl:annotatedTarget "A cervical adenocarcinoma that derives_from mucin producing epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3702 ; owl:annotatedTarget "A cervix carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11145249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3703 ; owl:annotatedTarget "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3704 ; owl:annotatedTarget "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb4/bb4-chap3.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3705 ; owl:annotatedTarget "A fallopian tube benign neoplasm that produces mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15462465"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040059 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger potassium dichromate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3706 ; owl:annotatedTarget "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22569105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3707 ; owl:annotatedTarget "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3709 ; owl:annotatedTarget "A rectal adenocarcinoma that produces mucin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3711 ; owl:annotatedTarget "A bladder carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3713 ; owl:annotatedTarget "An ovarian carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3715 ; owl:annotatedTarget "A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3717 ; owl:annotatedTarget "A stomach carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arterivirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3718 ; owl:annotatedTarget "A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3728 ; owl:annotatedTarget "A acute sanguinous otitis media caused by an allergen."^^xsd:string . [] oboInOwl:hasDbXref "url:http://expasy.org/viralzone/all_by_species/87.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3729 ; owl:annotatedTarget "A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person."^^xsd:string . [] oboInOwl:hasDbXref "url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3730 ; owl:annotatedTarget "A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm"^^xsd:string, "url:http://www.jstor.org/stable/pdfplus/1349519.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3732 ; owl:annotatedTarget "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/East_Coast_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3733 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Verrucous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3737 ; owl:annotatedTarget "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/219110-overview"^^xsd:string, "url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3739 ; owl:annotatedTarget "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/topics/nutrition_disorders/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_374 ; owl:annotatedTarget "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3740 ; owl:annotatedTarget "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/bladder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3742 ; owl:annotatedTarget "A carcinoma of bladder that is manifested in squamous cells of the bladder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18214065"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3743 ; owl:annotatedTarget "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=752829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3744 ; owl:annotatedTarget "A cervix carcinoma that has_material_basis_in squamous cells of the cervix."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/esophageal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3748 ; owl:annotatedTarget "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3750 ; owl:annotatedTarget "A cancer of urethra that shows squamous cell differentiation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3753 ; owl:annotatedTarget "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations"^^xsd:string, "url:http://omim.org/entry/600195?search=600195&highlight=600195"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301733"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050792 ; owl:annotatedTarget "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Antithrombin_III_deficiency"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3755 ; owl:annotatedTarget "A thrombophilia that is characterized by the tendency to form clots in the veins."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3756 ; owl:annotatedTarget "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26846578"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3762 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3764 ; owl:annotatedTarget "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27773511"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3766 ; owl:annotatedTarget "A vaginal discharge that is characterized by a whitish or yellow color."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23889917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3767 ; owl:annotatedTarget "A vaginal disease that is characterized by the presence of discharge."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3770 ; owl:annotatedTarget "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Short_QT_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome"^^xsd:string, "url:http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050793 ; owl:annotatedTarget "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anovulation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3781 ; owl:annotatedTarget "An ovarian disease that is characterized by the absence of ovulation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3783 ; owl:annotatedTarget "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleural_empyema"^^xsd:string, "url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3798 ; owl:annotatedTarget "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050794 ; owl:annotatedTarget "A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Feline_panleukopenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3799 ; owl:annotatedTarget "A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3800 ; owl:annotatedTarget "A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3803 ; owl:annotatedTarget "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arthropathy"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_381 ; owl:annotatedTarget "A bone disease that is located_in the joint."^^xsd:string . [] oboInOwl:hasDbXref "url:https://aapos.org/glossary/cranial-nerve-palsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3817 ; owl:annotatedTarget "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Photodermatitis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19834430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3818 ; owl:annotatedTarget "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16805148"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3819 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cone_dystrophy"^^xsd:string, "url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1418/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050795 ; owl:annotatedTarget "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3827 ; owl:annotatedTarget "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24010395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3829 ; owl:annotatedTarget "A pituitary gland benign neoplasm that derives_from glandular epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia"^^xsd:string, "url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3856 ; owl:annotatedTarget "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Large_cell"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3857 ; owl:annotatedTarget "A medulloblastoma that is characterized by cells that are larger than would be normally expected."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thrombophlebitis"^^xsd:string, "url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3875 ; owl:annotatedTarget "A phlebitis that results from a blood clot in the vessel."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/200450"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/456/disease/resources/1"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050796 ; owl:annotatedTarget "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/lynch-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3883 ; owl:annotatedTarget "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Placental_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3891 ; owl:annotatedTarget "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Insulinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3892 ; owl:annotatedTarget "A pancreatic cystadenoma that is characterized by the overproduction of insulin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hidradenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3896 ; owl:annotatedTarget "A sweat gland benign neoplasm that is located_in an apical sweat gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vulvitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3901 ; owl:annotatedTarget "A vulvar disease that is characterized by inflammation of the vulva."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pseudorabies"^^xsd:string, "url:http://www.plospathogens.org/article/info:doi%2F10.1371%2Fjournal.ppat.1000640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3902 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/264470"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11815777"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17458872"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18536048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050797 ; owl:annotatedTarget "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3904 ; owl:annotatedTarget "A bronchus cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://merck.com/mmpe/sec05/ch062/ch062b.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3905 ; owl:annotatedTarget "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/lungsquamouscell"^^xsd:string, "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=46595"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3907 ; owl:annotatedTarget "A non-small cell lung carcinoma that has_material_basis_in the squamous cell."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3908 ; owl:annotatedTarget "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17603797"^^xsd:string, "url:https://www.omim.org/entry/300352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050798 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3910 ; owl:annotatedTarget "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12714972"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16838330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3911 ; owl:annotatedTarget "A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050799 ; owl:annotatedTarget "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3930 ; owl:annotatedTarget "An inner ear disease which involves inflammation of the inner ear."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arenaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3944 ; owl:annotatedTarget "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/adrenocortical"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3948 ; owl:annotatedTarget "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3950 ; owl:annotatedTarget "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17603797"^^xsd:string, "url:https://www.omim.org/entry/300352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050800 ; owl:annotatedTarget "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3953 ; owl:annotatedTarget "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/androgenetic-alopecia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050801 ; owl:annotatedTarget "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3959 ; owl:annotatedTarget "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_396 ; owl:annotatedTarget "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3962 ; owl:annotatedTarget "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050802 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3963 ; owl:annotatedTarget "A thyroid gland cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/thyroid"^^xsd:string, "url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21455196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3969 ; owl:annotatedTarget "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer abd arises from the follicular cells of the thyroid gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8995091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_397 ; owl:annotatedTarget "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium."^^xsd:string . [] oboInOwl:hasDbXref "OMIM:115210"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_397 ; owl:annotatedTarget "Familial restrictive cardiomyopathy"^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string, "url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050803 ; owl:annotatedTarget "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3973 ; owl:annotatedTarget "A thyroid gland carcinoma that has_material_basis_in parafollicular cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string, "url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3978 ; owl:annotatedTarget "A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3981 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3982 ; owl:annotatedTarget "A cranio-facial dystonia that is accompanied by blepharospasm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3983 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3984 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jvdi.org/cgi/reprint/1/2/195.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3985 ; owl:annotatedTarget "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050804 ; owl:annotatedTarget "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/home/sec17/ch193/ch193a.html"^^xsd:string, "url:http://www.uphs.upenn.edu/bugdrug/antibiotic_manual/atstbdx99.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_399 ; owl:annotatedTarget "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3996 ; owl:annotatedTarget "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3998 ; owl:annotatedTarget "A Bartholin's gland carcinoma that derives_from transitional epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bartholin%27s_gland"^^xsd:string, "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_3999 ; owl:annotatedTarget "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050805 ; owl:annotatedTarget "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4 ; owl:annotatedTarget "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4000 ; owl:annotatedTarget "An ovarian epithelial cancer that derives_from epithelial transitional cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/ovarian"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4001 ; owl:annotatedTarget "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4005 ; owl:annotatedTarget "An endometrial carcinoma that derives_from transitional epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050806 ; owl:annotatedTarget "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=46629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4006 ; owl:annotatedTarget "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4007 ; owl:annotatedTarget "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb4/bb4-chap3.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4008 ; owl:annotatedTarget "A fallopian tube carcinoma that derives_from epithelial transitional cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_401 ; owl:annotatedTarget "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6506393"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4011 ; owl:annotatedTarget "A prostate carcinoma that derives_from transitional epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.healthline.com/health/papillary-urothelial-carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4012 ; owl:annotatedTarget "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://cancer.emedtv.com/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4013 ; owl:annotatedTarget "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.sciencedirect.com/science/article/pii/S0090429505013439"^^xsd:string, "url:http://www.tua.org.tw/magazine/FileM/dw2008331112526_10734.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4014 ; owl:annotatedTarget "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4015 ; owl:annotatedTarget "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050807 ; owl:annotatedTarget "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16900894"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_402 ; owl:annotatedTarget "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23969704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4022 ; owl:annotatedTarget "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.online-medical-dictionary.org/Scirrhous+Adenocarcinoma.asp?q=Scirrhous+Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4024 ; owl:annotatedTarget "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dermnetnz.org/vascular/angioma-serpiginosa.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4028 ; owl:annotatedTarget "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gastritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4029 ; owl:annotatedTarget "A stomach disease that is an inflammation of the lining of the stomach."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050809 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_403 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the mouth."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/gastritis/"^^xsd:string, "url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4033 ; owl:annotatedTarget "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4034 ; owl:annotatedTarget "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jcp.bmjjournals.com/content/54/10/774.full"^^xsd:string, "url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4036 ; owl:annotatedTarget "A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Biotin_deficiency"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050810 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://smj.sma.org.sg/5006/5006pe1.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12864956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_404 ; owl:annotatedTarget "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Muscle"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4045 ; owl:annotatedTarget "A musculoskeletal system cancer that is located_in muscle."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4047 ; owl:annotatedTarget "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=655;epage=656;aulast=Moorthy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4049 ; owl:annotatedTarget "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S1556086415305220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4050 ; owl:annotatedTarget "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4053 ; owl:annotatedTarget "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&"^^xsd:string, "url:http://omim.org/entry/201710"^^xsd:string, "url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050811 ; owl:annotatedTarget "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/prostate-sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4054 ; owl:annotatedTarget "A prostate cancer that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string, "url:http://gut.bmj.com/content/35/6/854"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4057 ; owl:annotatedTarget "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19194282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4058 ; owl:annotatedTarget "A sarcoma that is located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9553806"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4059 ; owl:annotatedTarget "An ovary sarcoma that arises from skeletal muscle progenitors."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4060 ; owl:annotatedTarget "A breast sarcoma that arises from skeletal muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21470524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4061 ; owl:annotatedTarget "A testis sarcoma that arises from mesenchymal cells and is located_in the testis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://jamanetwork.com/journals/jama/fullarticle/462919"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4062 ; owl:annotatedTarget "A sarcoma and malignant neoplasm of testis that is located_in the testis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sarcoma_botryoides"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4064 ; owl:annotatedTarget "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4066 ; owl:annotatedTarget "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4067 ; owl:annotatedTarget "A sarcoma and malignant neoplasm of anus that is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/612847"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050812 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_407 ; owl:annotatedTarget "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4074 ; owl:annotatedTarget "A pancreatic carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4078 ; owl:annotatedTarget "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heart_valve_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4079 ; owl:annotatedTarget "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4080 ; owl:annotatedTarget "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4085 ; owl:annotatedTarget "A germ cell and embryonal cancer that derives_from trophoblastic tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.org/viralzone/all_by_species/127.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4088 ; owl:annotatedTarget "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/143095?search=143095&highlight=143095"^^xsd:string, "url:http://www.informatics.jax.org/disease/143095"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/"^^xsd:string, "url:http://www.uniprot.org/diseases/DI-01753"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050813 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4090 ; owl:annotatedTarget "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Caliciviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4091 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4092 ; owl:annotatedTarget "A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rinderpest"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4104 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4105 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tick"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4109 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ectoparasitic_infestation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4110 ; owl:annotatedTarget "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://dx.doi.org/10.1016/j.ygyno.2006.12.029"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4111 ; owl:annotatedTarget "A cervical carcinosarcoma that is located_in the cervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18357808"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4112 ; owl:annotatedTarget "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4113 ; owl:annotatedTarget "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Uterine_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4114 ; owl:annotatedTarget "A uterine corpus cancer that has_material_basis_in more than one type of cell."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12360039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4115 ; owl:annotatedTarget "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4117 ; owl:annotatedTarget "A vaginal carcinosarcoma derives_from the glands that line the uterus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/West_Nile_virus"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4121 ; owl:annotatedTarget "A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417"^^xsd:string, "url:http://www.sciencedirect.com/science/article/pii/S1769721213002449"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21129728"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050814 ; owl:annotatedTarget "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nail_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4123 ; owl:annotatedTarget "An integumentary system disease that is located_in nail."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_413 ; owl:annotatedTarget "A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Erythrasma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30020724"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4131 ; owl:annotatedTarget "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Accessory_visual_structures"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050815 ; owl:annotatedTarget "An eye and adnexa disease that is located_in the adnexa of the eye."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Biliary_dyskinesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4140 ; owl:annotatedTarget "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayfieldclinic.com/pe-meni.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4141 ; owl:annotatedTarget "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK13668/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4143 ; owl:annotatedTarget "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urofacial_syndrome"^^xsd:string, "url:http://omim.org/entry/236730"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050816 ; owl:annotatedTarget "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4151 ; owl:annotatedTarget "A chordoma that is located_in the skull base."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4152 ; owl:annotatedTarget "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4153 ; owl:annotatedTarget "A chordoma that derives_from the spine."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4156 ; owl:annotatedTarget "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4157 ; owl:annotatedTarget "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stargardt_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050817 ; owl:annotatedTarget "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/skincancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4159 ; owl:annotatedTarget "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6886755"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4164 ; owl:annotatedTarget "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/275350"^^xsd:string, "url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050818 ; owl:annotatedTarget "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Syphilis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4166 ; owl:annotatedTarget "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autoimmune_disease"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_417 ; owl:annotatedTarget "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17236193"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050819 ; owl:annotatedTarget "A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/systemic-scleroderma"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_418 ; owl:annotatedTarget "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4186 ; owl:annotatedTarget "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Echolalia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4188 ; owl:annotatedTarget "A speech disorder that involves the automatic repetition of vocalizations made by another person."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mutism"^^xsd:string, "url:http://en.wikipedia.org/wiki/Speech_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4189 ; owl:annotatedTarget "A speech disorder that involves a complete inability to speak."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_419 ; owl:annotatedTarget "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Atrioventricular_block"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050820 ; owl:annotatedTarget "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000687.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4196 ; owl:annotatedTarget "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18328202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_420 ; owl:annotatedTarget "A hair disease characterized by hair growth that is abnormal in quantity or location."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brainstem_glioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4202 ; owl:annotatedTarget "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/First-degree_atrioventricular_block"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050821 ; owl:annotatedTarget "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4206 ; owl:annotatedTarget "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4207 ; owl:annotatedTarget "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050822 ; owl:annotatedTarget "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hair_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_421 ; owl:annotatedTarget "An integumentary system disease that is located_in hair."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4217 ; owl:annotatedTarget "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050823 ; owl:annotatedTarget "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pyoderma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Pyogenic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4223 ; owl:annotatedTarget "A dermatitis that is characterized by a pyogenic infection causing the formation of pus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4224 ; owl:annotatedTarget "A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4226 ; owl:annotatedTarget "An endometrial stromal tumor that has_material_basis in connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21652246"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4227 ; owl:annotatedTarget "A uterine corpus sarcoma that has_material_basis in the connective tissue of the uterine lining."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_423 ; owl:annotatedTarget "A muscular disease in which the muscle fibers do not function resulting in muscular weakness."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasNarrowSynonym ; owl:annotatedTarget "Narrow synonym."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4232 ; owl:annotatedTarget "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4233 ; owl:annotatedTarget "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4235 ; owl:annotatedTarget "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor"^^xsd:string, "url:http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English"^^xsd:string, "url:http://www.cancer.gov/dictionary/?CdrID=44003"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4236 ; owl:annotatedTarget "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4239 ; owl:annotatedTarget "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_424 ; owl:annotatedTarget "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4242 ; owl:annotatedTarget "A kidney cancer that is located in the kidney's connective tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome"^^xsd:string, "url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvrd/prions/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4249 ; owl:annotatedTarget "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4251 ; owl:annotatedTarget "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alexander_disease"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm"^^xsd:string, "url:http://www.omim.org/entry/203450"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4252 ; owl:annotatedTarget "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Melorheostosis"^^xsd:string, "url:http://www.melorheostosis.com/"^^xsd:string, "url:http://www.orthopaedia.com/display/Main/Melorheostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4253 ; owl:annotatedTarget "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteosclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4254 ; owl:annotatedTarget "A bone remodeling disease that results_in abnormal elevated bone density or mass."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4257 ; owl:annotatedTarget "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351"^^xsd:string, "url:http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4258 ; owl:annotatedTarget "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4265 ; owl:annotatedTarget "A leiomyoma that is located_in the blood vessels."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Akinetic_mutism"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14642361"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4267 ; owl:annotatedTarget "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jvdi.org/cgi/reprint/5/4/649.pdf"^^xsd:string, "url:http://www.petplace.com/dogs/encephalitozoonosis/page1.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4270 ; owl:annotatedTarget "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4271 ; owl:annotatedTarget "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4273 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pestivirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4274 ; owl:annotatedTarget "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4277 ; owl:annotatedTarget "A basal cell carcinoma that is located_in the penis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2235986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4279 ; owl:annotatedTarget "A variant of basal cell carcinoma characterized by follicular differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sinoatrial_node"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050824 ; owl:annotatedTarget "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4280 ; owl:annotatedTarget "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4281 ; owl:annotatedTarget "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4282 ; owl:annotatedTarget "A basal cell carcinoma characterized by brown or black pigmentation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4283 ; owl:annotatedTarget "A basal cell carcinoma that is located_in the anal margin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4284 ; owl:annotatedTarget "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4288 ; owl:annotatedTarget "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4289 ; owl:annotatedTarget "A basal cell carcinoma characterized by solid tumor nodules."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://fertilitypedia.org/edu/diagnoses/gynatresia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22717415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_429 ; owl:annotatedTarget "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Scimitar_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31536209"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4297 ; owl:annotatedTarget "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22935972"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4301 ; owl:annotatedTarget "A vulva carcinoma that has_material_basis in basal cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4305 ; owl:annotatedTarget "A benign giant cell tumor that results_in the presence of multinucleated giant cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Radiculopathy"^^xsd:string, "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4306 ; owl:annotatedTarget "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Radiculopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4307 ; owl:annotatedTarget "A radiculopathy that is present in more than one nerve."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polyradiculoneuropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4308 ; owl:annotatedTarget "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMicm1204895"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4313 ; owl:annotatedTarget "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4318 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4320 ; owl:annotatedTarget "A choriocarcicoma that develops in the absence of a preceding gestational event."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4325 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Filoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4326 ; owl:annotatedTarget "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocardium"^^xsd:string, "url:http://people.upei.ca/lmiller/2009_CV_Endocardial_Pathology/ENDOCARDIUM-2009.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050825 ; owl:annotatedTarget "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4327 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30189984/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4331 ; owl:annotatedTarget "A mouth disease that is characterized by long-lasting burning sensations of the mouth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Paraovarian_cyst"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4333 ; owl:annotatedTarget "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11169173"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040060 ; owl:annotatedTarget "A photoallergic dermatitis that has_allergic_trigger ketoprofen."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4336 ; owl:annotatedTarget "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4337 ; owl:annotatedTarget "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/cervicalcancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Cervical_cancer"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=444973"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4362 ; owl:annotatedTarget "A female reproductive organ cancer that is located_in the cervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15845569"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4364 ; owl:annotatedTarget "A breast cancer that arises_from melanocytes."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/218030"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4367 ; owl:annotatedTarget "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050826 ; owl:annotatedTarget "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-Sheet"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_437 ; owl:annotatedTarget "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/schnitzler-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4371 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30879430/"^^xsd:string, "url:https://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4374 ; owl:annotatedTarget "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Milk_hypersensitivity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4376 ; owl:annotatedTarget "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergy#Foods"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4377 ; owl:annotatedTarget "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergy#Foods"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4378 ; owl:annotatedTarget "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Tree_nut_allergy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4379 ; owl:annotatedTarget "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21619947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_438 ; owl:annotatedTarget "An autoimmune disease affecting the nervous system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31146616/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4384 ; owl:annotatedTarget "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.sciencedirect.com/science/article/pii/S0090825803003299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4385 ; owl:annotatedTarget "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuromuscular_junction_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_439 ; owl:annotatedTarget "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Henipavirus"^^xsd:string, "url:http://www.expasy.org/viralzone/all_by_species/85.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4393 ; owl:annotatedTarget "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050827 ; owl:annotatedTarget "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_440 ; owl:annotatedTarget "A neuropathy that affect the nerves that control the voluntary muscles."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4411 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Astroviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4412 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25046205"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4413 ; owl:annotatedTarget "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sea-blue_histiocytosis"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4423 ; owl:annotatedTarget "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dyslexia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4428 ; owl:annotatedTarget "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25233069"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4439 ; owl:annotatedTarget "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46577"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4440 ; owl:annotatedTarget "A germinoma that has_material_basis_in cells that make sperm and eggs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4441 ; owl:annotatedTarget "A germ cell cancer that derives_from cells that give rise to egg cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2479947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4442 ; owl:annotatedTarget "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4448 ; owl:annotatedTarget "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=661352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4450 ; owl:annotatedTarget "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4451 ; owl:annotatedTarget "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products)."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Primary_aldosteronism"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_446 ; owl:annotatedTarget "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Collecting_duct_carcinoma"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26684811"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4464 ; owl:annotatedTarget "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/kidneypapillary"^^xsd:string, "url:http://www.omim.org/entry/605074"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4465 ; owl:annotatedTarget "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45063"^^xsd:string, "url:https://cancergenome.nih.gov/cancersselected/kidneyclearcell"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4467 ; owl:annotatedTarget "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope."^^xsd:string . [] oboInOwl:hasDbXref "MESH:C538445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_4467 ; owl:annotatedTarget "Clear-cell metastatic renal cell carcinoma"^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Artery#Pathology"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050828 ; owl:annotatedTarget "A vascular disease that is located_in an artery."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4468 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4471 ; owl:annotatedTarget "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achondroplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/achondroplasia"^^xsd:string, "url:http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4480 ; owl:annotatedTarget "An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Allergic_rhinitis"^^xsd:string, "url:http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4481 ; owl:annotatedTarget "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4483 ; owl:annotatedTarget "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gulf_War_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4491 ; owl:annotatedTarget "A syndrome affecting returning military veterans and civilian workers of the Gulf War."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4492 ; owl:annotatedTarget "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4493 ; owl:annotatedTarget "A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myotonic_dystrophy"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string, "url:http://www.genome.gov/25521207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_450 ; owl:annotatedTarget "A muscular dystrophy that is characterized by progressive muscle wasting and weakness."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4501 ; owl:annotatedTarget "A syndrome that is characterized by malformations of the face, oral cavity, and digits."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4504 ; owl:annotatedTarget "A central nervous system sarcoma that is located_in the inner lining of blood vessels."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4505 ; owl:annotatedTarget "An angiosarcoma that affects children."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://icvts.ctsnetjournals.org/cgi/content/full/6/6/832"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4510 ; owl:annotatedTarget "An angiosarcoma that is located_in the aorta."^^xsd:string . [] oboInOwl:hasDbXref "url:http://breastcancer.about.com/od/types/p/angiosarcoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4511 ; owl:annotatedTarget "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15861270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4513 ; owl:annotatedTarget "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/thyroid.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4514 ; owl:annotatedTarget "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4515 ; owl:annotatedTarget "A thyroid gland cancer that is located_in the supporting cells of the thyroid."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4517 ; owl:annotatedTarget "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleomorphic_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_452 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that is a located_in the salivary glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22986788"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4520 ; owl:annotatedTarget "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17619891"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4521 ; owl:annotatedTarget "A cervical cancer that derives_from the fibrous connective tissue of the endometrium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4524 ; owl:annotatedTarget "An angiosarcoma and sarcoma of prostate that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4525 ; owl:annotatedTarget "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24520828"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4527 ; owl:annotatedTarget "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4531 ; owl:annotatedTarget "A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4534 ; owl:annotatedTarget "A syndrome that affects growth, cranial development, hair growth and dental development."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypotrichosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4535 ; owl:annotatedTarget "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgraphia"^^xsd:string, "url:http://www.ncld.org/ld-basics/ld-aamp-language/written-expression/dysgraphia"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4540 ; owl:annotatedTarget "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pericardium"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050829 ; owl:annotatedTarget "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nominal_aphasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4541 ; owl:annotatedTarget "An agnosia that involves a severe problem with recalling words or names."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amnesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4543 ; owl:annotatedTarget "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection."^^xsd:string . [] oboInOwl:hasDbXref "url:http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4547 ; owl:annotatedTarget "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16084955"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4549 ; owl:annotatedTarget "A chondrosarcoma that is located_in exclusively soft tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm"^^xsd:string, "url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050830 ; owl:annotatedTarget "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4552 ; owl:annotatedTarget "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4555 ; owl:annotatedTarget "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis in neuroendocrine cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Leukoedema"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4557 ; owl:annotatedTarget "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascariasis"^^xsd:string, "url:http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_456 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9653909"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4560 ; owl:annotatedTarget "An endometritis that is present for weeks or more and does not have an identifiable causative organism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1326899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4561 ; owl:annotatedTarget "An endometritis that is characterized by the presence of granulomas in the uterus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies"^^xsd:string, "url:http://www.jbc.org/content/277/19/17367"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050831 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascaridida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_457 ; owl:annotatedTarget "A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2312995"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040061 ; owl:annotatedTarget "A respiratory allergy that has_allergic_trigger remazole black-GR."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism"^^xsd:string, "url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050832 ; owl:annotatedTarget "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=527370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4606 ; owl:annotatedTarget "A biliary tract cancer that is located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Biliary_tract_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4607 ; owl:annotatedTarget "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Orotic_aciduria"^^xsd:string, "url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9"^^xsd:string, "url:http://www.omim.org/entry/258900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050833 ; owl:annotatedTarget "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4610 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that is located_in the intestine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4616 ; owl:annotatedTarget "A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4618 ; owl:annotatedTarget "A jaw cancer that effects the maxilla or upper jaw."^^xsd:string . [] oboInOwl:hasDbXref "DO:lh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_462 ; owl:annotatedTarget "A cancer that affects an anatomical entity."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Holoprosencephaly"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1530/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4621 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ollier_disease"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4624 ; owl:annotatedTarget "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm"^^xsd:string, "url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4629 ; owl:annotatedTarget "A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4644 ; owl:annotatedTarget "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/CHARGE_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/charge-syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050834 ; owl:annotatedTarget "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10391573"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4647 ; owl:annotatedTarget "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retinoblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4650 ; owl:annotatedTarget "A retinoblastoma that develops in both eyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retinoblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4651 ; owl:annotatedTarget "A retinoblastoma that effects only one eye."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28620731"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4653 ; owl:annotatedTarget "A retinoblastoma that is located_in the eye and has not spread to other parts of the body."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4656 ; owl:annotatedTarget "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050835 ; owl:annotatedTarget "A dystonia that affects most or all of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity"^^xsd:string, "url:http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4661 ; owl:annotatedTarget "A syndrome that is an adverse physical reaction to low levels of many common chemicals."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thalamus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4662 ; owl:annotatedTarget "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string, "url:http://www.mayoclinic.com/health/kyphosis/DS00681"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4667 ; owl:annotatedTarget "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string, "url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html"^^xsd:string, "url:http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp"^^xsd:string, "url:http://www.wheelessonline.com/ortho/congenital_kyphosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4668 ; owl:annotatedTarget "A kyphosis that results_in abnormal formation located_in body of vertebra."^^xsd:string . [] oboInOwl:hasDbXref "MESH:C538001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_0050835 ; owl:annotatedTarget "Dystonia 12"^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1429/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4674 ; owl:annotatedTarget "A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4677 ; owl:annotatedTarget "A corneal disease that is characterized by inflammation of the cornea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4679 ; owl:annotatedTarget "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4680 ; owl:annotatedTarget "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4687 ; owl:annotatedTarget "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11154721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4691 ; owl:annotatedTarget "A mediastinal cancer that has_material_basis_in neural cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endophthalmitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis"^^xsd:string, "url:https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4692 ; owl:annotatedTarget "A globe disease that is characterized by inflammation of the inside of the eye."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tentorium_cerebelli"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/mesh/68015192"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4706 ; owl:annotatedTarget "A brain cancer that is located_in the infratentorial region."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://tcrc.acor.org/egc.html"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4717 ; owl:annotatedTarget "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4719 ; owl:annotatedTarget "A malignant giant cell tumor that is composed_of multinucleated giant cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak"^^xsd:string, "url:https://en.wikipedia.org/wiki/Intracranial_pressure"^^xsd:string, "url:https://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4723 ; owl:annotatedTarget "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebral_edema"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4724 ; owl:annotatedTarget "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4730 ; owl:annotatedTarget "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/atrophic_rhinitis"^^xsd:string, "url:http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4731 ; owl:annotatedTarget "A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://allpsych.com/disorders/somatoform/index.html"^^xsd:string, "url:http://en.wikipedia.org/wiki/Somatoform_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4737 ; owl:annotatedTarget "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4739 ; owl:annotatedTarget "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4743 ; owl:annotatedTarget "A mixed germ cell cancer that is located_in the testis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Placenta_accreta"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4744 ; owl:annotatedTarget "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050836 ; owl:annotatedTarget "A dystonia that is localized to a specific part of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dictyocaulus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4754 ; owl:annotatedTarget "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.10e&code=C6358&ns=ncit&type=relationship&key=null&b=1&n=0&vse=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4757 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor that is located_in the testis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22434703"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_476 ; owl:annotatedTarget "A breast benign neoplasm that is characterized by a collection of excess blood vessels."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4760 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050837 ; owl:annotatedTarget "A dystonia that involves two or more unrelated body parts."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=446557"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4765 ; owl:annotatedTarget "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4766 ; owl:annotatedTarget "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30480950"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4769 ; owl:annotatedTarget "A pulmonary blastoma that derives_from the lung or pleural cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mesoblastic_nephroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4772 ; owl:annotatedTarget "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4773 ; owl:annotatedTarget "A kidney cancer that is characterized by the presence of fibroblastic cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission"^^xsd:string, "url:http://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4775 ; owl:annotatedTarget "A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4780 ; owl:annotatedTarget "A Goodpasture syndrome that is characterized by damage to only kidney capillaries."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4795 ; owl:annotatedTarget "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050838 ; owl:annotatedTarget "A dystonia that affects two or more adjacent parts of the body."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_48 ; owl:annotatedTarget "A reproductive system disease that affects male reproductive organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Movement_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_480 ; owl:annotatedTarget "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4804 ; owl:annotatedTarget "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Swine_vesicular_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4807 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.idph.state.il.us/public/hb/hbentero.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4808 ; owl:annotatedTarget "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4809 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis"^^xsd:string, "url:http://rarediseasesnetwork.epi.usf.edu/stair/ctx/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1409/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4810 ; owl:annotatedTarget "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anismus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050839 ; owl:annotatedTarget "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brainstem_glioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4813 ; owl:annotatedTarget "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/001437.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4817 ; owl:annotatedTarget "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4829 ; owl:annotatedTarget "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spasmodic_torticollis"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1155/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050840 ; owl:annotatedTarget "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4830 ; owl:annotatedTarget "A squamous cell carcinoma that contains squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gorham%27s_disease"^^xsd:string, "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4837 ; owl:annotatedTarget "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.diagnosticpathology.org/content/3/1/7"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4838 ; owl:annotatedTarget "A carcinoma that derives_from myoepithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30945015/"^^xsd:string, "url:https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4845 ; owl:annotatedTarget "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dystonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050841 ; owl:annotatedTarget "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pilocytic_astrocytoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4851 ; owl:annotatedTarget "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4852 ; owl:annotatedTarget "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4857 ; owl:annotatedTarget "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oculogyric_crisis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050842 ; owl:annotatedTarget "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Astrocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4860 ; owl:annotatedTarget "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ictvdb.org/ICTVdB/00.073.0.02.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4864 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Togaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4865 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses."^^xsd:string . [] oboInOwl:hasDbXref "url:https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4866 ; owl:annotatedTarget "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26090035"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28348909"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4867 ; owl:annotatedTarget "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://nci.nih.gov/dictionary/?CdrID=46623"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4876 ; owl:annotatedTarget "A tracheal cancer that effects the airway that leads from the larynx to the bronchi."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oromandibular_dystonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050843 ; owl:annotatedTarget "A focal dystonia that is characterized by distortions of the mouth and tongue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4877 ; owl:annotatedTarget "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4878 ; owl:annotatedTarget "An esophageal carcinoma that derives_from epithelial cells of the salivary gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17488169"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4879 ; owl:annotatedTarget "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44997"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4880 ; owl:annotatedTarget "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/coloradotickfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4885 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/rotavirus/about/symptoms.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4887 ; owl:annotatedTarget "A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050844 ; owl:annotatedTarget "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4889 ; owl:annotatedTarget "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy"^^xsd:string, "url:http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic"^^xsd:string, "url:http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4890 ; owl:annotatedTarget "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050845 ; owl:annotatedTarget "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4892 ; owl:annotatedTarget "A middle ear carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4893 ; owl:annotatedTarget "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21139896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4894 ; owl:annotatedTarget "An ovary adenocarcinoma that arises from the rete ovarii."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2758361"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040062 ; owl:annotatedTarget "A respiratory allergy that has_allergic_trigger chloramine T."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050846 ; owl:annotatedTarget "A multifocal dystonia that involves the arm and leg on the same side of the body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2852648"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4895 ; owl:annotatedTarget "A female reporoductive organ benign neoplasm that is located_in the rete ovarii."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4896 ; owl:annotatedTarget "A bile duct carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4897 ; owl:annotatedTarget "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050847 ; owl:annotatedTarget "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4902 ; owl:annotatedTarget "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Granular_cell_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4903 ; owl:annotatedTarget "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/pancreatic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4905 ; owl:annotatedTarget "A pancreas cancer that derives_from epithelial cells located_in the pancreas."^^xsd:string . [] oboInOwl:hasDbXref "MESH:C535837"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_4905 ; owl:annotatedTarget "Pancreatic carcinoma, familial"^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050848 ; owl:annotatedTarget "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4906 ; owl:annotatedTarget "A small intestine carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Small_intestine_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4907 ; owl:annotatedTarget "A small intestine cancer that develops from epithelial cells and is located_in the small intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anal_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4908 ; owl:annotatedTarget "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4910 ; owl:annotatedTarget "An urethra cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4914 ; owl:annotatedTarget "An esophageal carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15489649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4917 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4918 ; owl:annotatedTarget "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4920 ; owl:annotatedTarget "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4922 ; owl:annotatedTarget "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4923 ; owl:annotatedTarget "A thymic carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/7652866m7198p524/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4924 ; owl:annotatedTarget "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050849 ; owl:annotatedTarget "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/219110-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4925 ; owl:annotatedTarget "A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15562552"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9498957"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4926 ; owl:annotatedTarget "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://meshb.nlm.nih.gov/record/ui?ui=D018285"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4927 ; owl:annotatedTarget "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://onlinelibrary.wiley.com/store/10.1002/dc.2161/asset/2161_ftp.pdf?v=1&t=gpju9amb&s=f4e446d3a3c1e806325be5d11994dc6fb4670edf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4929 ; owl:annotatedTarget "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4930 ; owl:annotatedTarget "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20798963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050850 ; owl:annotatedTarget "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4931 ; owl:annotatedTarget "A nasal cavity cancer that_has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4932 ; owl:annotatedTarget "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glomerulosclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050851 ; owl:annotatedTarget "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4933 ; owl:annotatedTarget "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ischemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050852 ; owl:annotatedTarget "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4938 ; owl:annotatedTarget "An ureter carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/ureter-cancer/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4939 ; owl:annotatedTarget "An ureter cancer that is located_in the ureter."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4943 ; owl:annotatedTarget "An in situ carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chronic_venous_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050853 ; owl:annotatedTarget "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Cholangiocarcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=335064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4947 ; owl:annotatedTarget "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4948 ; owl:annotatedTarget "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Postpolio_syndrome"^^xsd:string, "url:http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4952 ; owl:annotatedTarget "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string, "url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf"^^xsd:string, "url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4953 ; owl:annotatedTarget "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11687797"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11992256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050854 ; owl:annotatedTarget "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10403296"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4955 ; owl:annotatedTarget "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemangiopericytoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1985083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4958 ; owl:annotatedTarget "A hemangiopericytoma which is manifested in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4959 ; owl:annotatedTarget "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050855 ; owl:annotatedTarget "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://nci.nih.gov/dictionary/?CdrID=430857"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4960 ; owl:annotatedTarget "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4962 ; owl:annotatedTarget "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Oppositional_defiant_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050856 ; owl:annotatedTarget "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neurosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4964 ; owl:annotatedTarget "An anxiety disorder that involves discress but neither delusions nor hallucinations."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gerstmann_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4969 ; owl:annotatedTarget "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4970 ; owl:annotatedTarget "An agnosia that results in the loss of the ability to consciously recognize familiar faces."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myelofibrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4971 ; owl:annotatedTarget "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bloodjournal.org/content/114/5/937.long"^^xsd:string, "url:http://www.bloodjournal.org/content/127/20/2391"^^xsd:string, "url:http://www.bloodjournal.org/content/128/3/462"^^xsd:string, "url:https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4972 ; owl:annotatedTarget "A myeloid neoplasm that results_in the overproduction of white blood cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.sciencedirect.com/science/article/pii/073646799500066J"^^xsd:string, "url:https://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4974 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4986 ; owl:annotatedTarget "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/pancreatitis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4989 ; owl:annotatedTarget "A pancreas disease that is characterized by inflammation of the pancreas."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Essential_tremor"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/essential-tremor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4990 ; owl:annotatedTarget "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/gene/LARS2"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23541340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050857 ; owl:annotatedTarget "A syndrome that is characterized by sensorineural hearing loss and ovarian failure."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusapa.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4993 ; owl:annotatedTarget "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16990713"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4994 ; owl:annotatedTarget "A uterine benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24582628"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4995 ; owl:annotatedTarget "A cervical benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Camurati-Engelmann_disease"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1156/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328"^^xsd:string, "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4997 ; owl:annotatedTarget "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050858 ; owl:annotatedTarget "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome"^^xsd:string, "url:http://www.healthline.com/galecontent/langer-giedion-syndrome"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_4998 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thyroid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_50 ; owl:annotatedTarget "An endocrine system disease that is located_in the thyroid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Equine_infectious_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5002 ; owl:annotatedTarget "A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5003 ; owl:annotatedTarget "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3356477"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040063 ; owl:annotatedTarget "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.nejm.org/doi/full/10.1056/NEJMra1001683"^^xsd:string, "url:https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4131&ns=NCI_Thesaurus"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9396/fibrolamellar-carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5015 ; owl:annotatedTarget "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1669699"^^xsd:string, "url:https://www.sciencedirect.com/science/article/pii/B978032344941000014X"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_502 ; owl:annotatedTarget "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alphavirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5029 ; owl:annotatedTarget "A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pineal_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5032 ; owl:annotatedTarget "An endocrine gland located_in the pineal gland located in the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hemorrhagic_cystitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050859 ; owl:annotatedTarget "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Esophagus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5041 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the esophagus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Granular_cell_tumor"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24303488"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27510686"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5043 ; owl:annotatedTarget "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/melioidosis/symptoms/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5052 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Phencyclidine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5062 ; owl:annotatedTarget "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adjustment_disorder"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_507 ; owl:annotatedTarget "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5074 ; owl:annotatedTarget "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ganglioglioma"^^xsd:string, "url:http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5078 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in glial-type cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5085 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5086 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.vet.cornell.edu/fhc/brochures/fip.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5087 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=482347"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5090 ; owl:annotatedTarget "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radonc.ucsf.edu/thoracic-cancers"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5093 ; owl:annotatedTarget "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5099 ; owl:annotatedTarget "An ear cancer that is located_in the middle ear."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5102 ; owl:annotatedTarget "An ear cancer located_in the inner ear."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17036563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5112 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/malnutrition.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5113 ; owl:annotatedTarget "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5115 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050860 ; owl:annotatedTarget "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24056662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5117 ; owl:annotatedTarget "A dermoid cyst that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22902841"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5118 ; owl:annotatedTarget "A cystic teratoma that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ovarian_cyst"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5119 ; owl:annotatedTarget "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Roseolovirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5120 ; owl:annotatedTarget "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5123 ; owl:annotatedTarget "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5124 ; owl:annotatedTarget "A fallopian tube benign neoplasm that has_material_basis in smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11896229"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5125 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/central_nervous_system_leiomyoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5126 ; owl:annotatedTarget "A central nervous system benign neoplasm that derives_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5127 ; owl:annotatedTarget "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27186256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5128 ; owl:annotatedTarget "A leiomyoma that is located_in deep soft tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9187805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5134 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26941368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5136 ; owl:annotatedTarget "A lung benign neoplasm that derives_from some smooth muscle cell."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4453980"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5137 ; owl:annotatedTarget "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5138 ; owl:annotatedTarget "A leiomyoma that is multiple and diffuse."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5139 ; owl:annotatedTarget "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17059154"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5140 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5142 ; owl:annotatedTarget "A vulvar benign neoplasm that is located_in smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17201349"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5143 ; owl:annotatedTarget "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7414395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5146 ; owl:annotatedTarget "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27529047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5147 ; owl:annotatedTarget "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.biomedcentral.com/1471-244X/10/70"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5154 ; owl:annotatedTarget "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pleural_cavity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5158 ; owl:annotatedTarget "A connective tissue cancer that located_in the pleura."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Arteriolosclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5162 ; owl:annotatedTarget "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5165 ; owl:annotatedTarget "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5169 ; owl:annotatedTarget "An ovary sarcoma that arises from endometrial stromal tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24294390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5170 ; owl:annotatedTarget "A vagina sarcoma that has_material_basis in endometrial stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24294390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5171 ; owl:annotatedTarget "A vaginal cancer that has_material_basis in endometrial stroma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050861 ; owl:annotatedTarget "A colorectal carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/0002937866903917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5172 ; owl:annotatedTarget "An in situ carcinoma that is located_in the endometrium."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.cancerindex.org/geneweb/X210202.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5183 ; owl:annotatedTarget "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour."^^xsd:string . [] oboInOwl:hasDbXref "url:https://health.google.com/health/ref/Wilms+tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5184 ; owl:annotatedTarget "A nephroblastoma that recurs over time."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5185 ; owl:annotatedTarget "A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10620450"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5190 ; owl:annotatedTarget "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13222203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5196 ; owl:annotatedTarget "A fallopian tube benign neoplasm that derives_from mesothelium."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_520 ; owl:annotatedTarget "An artery disease that is characterized by degeneration of the cells composing the aortic wall."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency"^^xsd:string, "url:http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5204 ; owl:annotatedTarget "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16284801"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050862 ; owl:annotatedTarget "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5207 ; owl:annotatedTarget "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25640097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5208 ; owl:annotatedTarget "A struma ovarii that is cancerous."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25640097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5209 ; owl:annotatedTarget "An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5212 ; owl:annotatedTarget "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5213 ; owl:annotatedTarget "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bovine_ephemeral_fever"^^xsd:string, "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5215 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jnnp.bmj.com/content/80/8/831.long"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_524 ; owl:annotatedTarget "A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050863 ; owl:annotatedTarget "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_525 ; owl:annotatedTarget "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nature.com/articles/modpathol2017113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5251 ; owl:annotatedTarget "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.archivesofpathology.org/doi/pdf/10.1043/1543-2165%282006%29130%5B1448%3AGOSTSR%5D2.0.CO%3B2"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5253 ; owl:annotatedTarget "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050864 ; owl:annotatedTarget "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10761660"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5254 ; owl:annotatedTarget "A leiomyosarcoma that is located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3232754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5258 ; owl:annotatedTarget "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm."^^xsd:string . [] oboInOwl:hasDbXref "url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5259 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of colon that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/HIV"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_526 ; owl:annotatedTarget "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050865 ; owl:annotatedTarget "A head and neck squamous cell carcinoma that is located_in the tongue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www3.interscience.wiley.com/journal/76043/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5260 ; owl:annotatedTarget "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5262 ; owl:annotatedTarget "A sarcoma and malignant neoplasm of heart that is located_in the heart."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22873115"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5263 ; owl:annotatedTarget "An ovary sarcoma that arises from smooth muscle progenitors."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28288693"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5264 ; owl:annotatedTarget "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5265 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of lung that is located_in the lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/t57853114066u8n8/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5267 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of the anus that is located_in the anus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26866354"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5268 ; owl:annotatedTarget "A leiomyosarcoma that is characterized by abundant myxoid stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11380545"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040064 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger (-)-carvone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5271 ; owl:annotatedTarget "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/smallintestine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5272 ; owl:annotatedTarget "A sarcoma and malignant tumor of small intestine that is located_in the small intestine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2278917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5275 ; owl:annotatedTarget "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www3.interscience.wiley.com/journal/112677325/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5282 ; owl:annotatedTarget "A prostate sarcoma that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25909129"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5283 ; owl:annotatedTarget "A vagina sarcoma that has_material_basis in smooth muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5285 ; owl:annotatedTarget "A breast sarcoma that arises from smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26010680"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5286 ; owl:annotatedTarget "A vulvar sarcoma that has_material_basis in smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.sage-hindawi.com/journals/pri/2010/652398.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5287 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5288 ; owl:annotatedTarget "A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5289 ; owl:annotatedTarget "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_529 ; owl:annotatedTarget "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ejcts.ctsnetjournals.org/cgi/content/full/21/5/943"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5292 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050866 ; owl:annotatedTarget "An oral cavity cancer that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=44498"^^xsd:string, "url:http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5293 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5295 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the intestine."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5296 ; owl:annotatedTarget "A leiomyosarcoma and sarcoma of liver that is located_in the liver."^^xsd:string . [] oboInOwl:hasDbXref "url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5297 ; owl:annotatedTarget "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24817975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5299 ; owl:annotatedTarget "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3425626"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7195649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050867 ; owl:annotatedTarget "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pituitary_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_53 ; owl:annotatedTarget "An endocrine system disease that is located_in the pituitary gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_530 ; owl:annotatedTarget "An adnexa disease that is located_in the eyelid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.hindawi.com/journals/criog/2015/183243/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5301 ; owl:annotatedTarget "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26699941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5302 ; owl:annotatedTarget "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23849091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5303 ; owl:annotatedTarget "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25398420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5304 ; owl:annotatedTarget "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5306 ; owl:annotatedTarget "A clear cell adenocarcinoma that is located_in the bladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25685552"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5307 ; owl:annotatedTarget "A clear cell adenocarcinoma that is located_in the urethra."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/glycogencabr/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24400866"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5310 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by predominantly clear cytoplasm due to glycogen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7060986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5313 ; owl:annotatedTarget "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5314 ; owl:annotatedTarget "An alveolar soft part sarcoma that recurs over time."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5316 ; owl:annotatedTarget "An alveolar soft part sarcoma that has not spread to other parts of the body."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5317 ; owl:annotatedTarget "An alveolar soft part sarcoma that has spread to other parts of the body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10202679"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5324 ; owl:annotatedTarget "A fallopian tube cancer that derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/roberts-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20101700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5325 ; owl:annotatedTarget "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amnesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5340 ; owl:annotatedTarget "An amnestic disorder that involves the impaired or lost ability to memorize new things."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5342 ; owl:annotatedTarget "An endodermal sinus tumor that occurs in children."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5348 ; owl:annotatedTarget "An endodermal sinus tumor that occurs in adults."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sleep_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_535 ; owl:annotatedTarget "A disease of mental health that involves disruption of sleep patterns."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5350 ; owl:annotatedTarget "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24576031"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5351 ; owl:annotatedTarget "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/subjects/colonic-diseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5353 ; owl:annotatedTarget "A intestinal disease located in the colon."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Heck%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5362 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8913727"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5363 ; owl:annotatedTarget "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5368 ; owl:annotatedTarget "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5369 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jaoa.org/cgi/content/abstract/91/6/606"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5370 ; owl:annotatedTarget "A hemangiopericytoma that is manifested in the breast."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5381 ; owl:annotatedTarget "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasOBOFormatVersion ; owl:annotatedTarget "Has OBO format version."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18152506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5382 ; owl:annotatedTarget "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5384 ; owl:annotatedTarget "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25002356"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5385 ; owl:annotatedTarget "An adenoma that has_material_basis_in more than one cell type."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5386 ; owl:annotatedTarget "A lung benign neoplasm that derives_from glandular epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25741045"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5387 ; owl:annotatedTarget "A sensory organ benign neoplasm that is located_in the middle ear."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5390 ; owl:annotatedTarget "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5396 ; owl:annotatedTarget "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hepatocellular_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050868 ; owl:annotatedTarget "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wiktionary.org/wiki/lipoadenoma"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5398 ; owl:annotatedTarget "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5399 ; owl:annotatedTarget "A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Strabismus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_540 ; owl:annotatedTarget "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5401 ; owl:annotatedTarget "An adenoma that derives_from epithelial cells which have clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050869 ; owl:annotatedTarget "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5402 ; owl:annotatedTarget "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15559952"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5403 ; owl:annotatedTarget "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone"^^xsd:string, "url:http://orthoinfo.aaos.org/topic.cfm?topic=A00076"^^xsd:string, "url:http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5408 ; owl:annotatedTarget "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Small-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5409 ; owl:annotatedTarget "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schizoaffective_disorder"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5418 ; owl:annotatedTarget "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schizophrenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5419 ; owl:annotatedTarget "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5421 ; owl:annotatedTarget "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5425 ; owl:annotatedTarget "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Premature_ovarian_failure"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27861765/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5426 ; owl:annotatedTarget "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/dystonia/"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480"^^xsd:string, "url:https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_543 ; owl:annotatedTarget "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.joplink.net/prev/200803/08.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5438 ; owl:annotatedTarget "A bile duct ademona that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://pubs.sciepub.com/ajmcr/4/9/3/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29582790"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5446 ; owl:annotatedTarget "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5460 ; owl:annotatedTarget "A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/African_swine_fever"^^xsd:string, "url:http://www.oie.int/eng/maladies/fiches/a_A120.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5462 ; owl:annotatedTarget "A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27584160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5465 ; owl:annotatedTarget "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040065 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger quinidine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21988050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5468 ; owl:annotatedTarget "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26881611"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5474 ; owl:annotatedTarget "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://jcp.bmj.com/content/63/4/377.1.short"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5475 ; owl:annotatedTarget "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12410376"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5476 ; owl:annotatedTarget "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jcancer.org/v02p0094.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24721826"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5477 ; owl:annotatedTarget "An adenofibroma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050870 ; owl:annotatedTarget "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5478 ; owl:annotatedTarget "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1595599"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5479 ; owl:annotatedTarget "An adenofibroma that is characterized by finger-like projections on histology."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9631607"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5480 ; owl:annotatedTarget "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ajronline.org/cgi/content/full/182/5/1259"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5482 ; owl:annotatedTarget "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Synovial_sarcoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=44626"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5485 ; owl:annotatedTarget "A synovium cancer which develops in the synovial membrane of the joints."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5488 ; owl:annotatedTarget "A synovial sarcoma that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050871 ; owl:annotatedTarget "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:http://sarcomahelp.org/learning_center/synovial_sarcoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5489 ; owl:annotatedTarget "An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepadnaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5497 ; owl:annotatedTarget "A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Head-louse_infestation"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5501 ; owl:annotatedTarget "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pediculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5502 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15999058"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050872 ; owl:annotatedTarget "A lung large cell carcinoma that derives_from neuroendocrine cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46432"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5503 ; owl:annotatedTarget "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ependyma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5508 ; owl:annotatedTarget "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Follicular_lymphoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=428287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050873 ; owl:annotatedTarget "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_551 ; owl:annotatedTarget "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5511 ; owl:annotatedTarget "A dysgerminoma that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5513 ; owl:annotatedTarget "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5514 ; owl:annotatedTarget "A breast metaplastic carcinoma that arises from squamous epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5515 ; owl:annotatedTarget "A nasal cavity carcinoma that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Caroli_disease"^^xsd:string, "url:http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050876 ; owl:annotatedTarget "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21113875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5516 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stomach_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5517 ; owl:annotatedTarget "A stomach cancer that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5518 ; owl:annotatedTarget "A penis carcinoma that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10211528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5519 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_552 ; owl:annotatedTarget "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=597171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5520 ; owl:annotatedTarget "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5521 ; owl:annotatedTarget "A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19738459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5522 ; owl:annotatedTarget "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5524 ; owl:annotatedTarget "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anal_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5525 ; owl:annotatedTarget "An anal carcinoma that arises near the squamocolumnar junction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5526 ; owl:annotatedTarget "A middle ear carcinoma that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5527 ; owl:annotatedTarget "An ampulla of Vater carcinoma that derives_from epithelial squamous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25956212"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5528 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12724709"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5529 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the lacrimal gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23235139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5530 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the thymus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25511544"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5531 ; owl:annotatedTarget "An ovarian carcinoma that derives_from squamous epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25511544"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5532 ; owl:annotatedTarget "An ovary epithelial cancer that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24615329"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5533 ; owl:annotatedTarget "An endometrial carcinoma that has_material_basis in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050877 ; owl:annotatedTarget "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24493112"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5534 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the renal pelvis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26236536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5535 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15767732"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5537 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5538 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the external ear."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17574059"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5539 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the ureter."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22707217"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5540 ; owl:annotatedTarget "A fallopian tube carcinoma that derives_from squamous epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://lib.bioinfo.pl/meid:61888"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5546 ; owl:annotatedTarget "A bone cancer that is located_in the femur."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11834687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5547 ; owl:annotatedTarget "A choriocarcinoma that is located_in the pulmonary artery."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome"^^xsd:string, "url:http://omim.org/entry/300623"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18195136"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050879 ; owl:annotatedTarget "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5550 ; owl:annotatedTarget "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24949806"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5551 ; owl:annotatedTarget "A choriocarcinoma that is located_in the testis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=445090"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=695185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5557 ; owl:annotatedTarget "A testicular cancer that has_material_basis_in germ cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mediastinal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5559 ; owl:annotatedTarget "A thoracic cancer that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26850909"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5561 ; owl:annotatedTarget "A teratoma that is located_in the stomach or other gastric tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5563 ; owl:annotatedTarget "A teratoma that is cancerous."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14127249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5564 ; owl:annotatedTarget "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/B9780702031311000353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5565 ; owl:annotatedTarget "A benign teratoma that is present in an adult."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5566 ; owl:annotatedTarget "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/mediastinal-teratoma,"^^xsd:string, "url:https://www.sciencedirect.com/science/article/pii/S1755001709000323"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5568 ; owl:annotatedTarget "A teratoma that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_557 ; owl:annotatedTarget "A urinary system disease that is located_in the kidney."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5572 ; owl:annotatedTarget "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5573 ; owl:annotatedTarget "A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=44239"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5577 ; owl:annotatedTarget "A neuroendocrine tumor that results_in an overproduction of gastric acid."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5583 ; owl:annotatedTarget "A lung carcinoma that is located_in large undifferentiated cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome"^^xsd:string, "url:http://omim.org/entry/610443"^^xsd:string, "url:http://www.17q21.com/en/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK24676/"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19447831"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22544363"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22544367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050880 ; owl:annotatedTarget "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26815829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5587 ; owl:annotatedTarget "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/mediastinal-teratoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26766978"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5588 ; owl:annotatedTarget "A papillary adenocarcinoma that is located_in the lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28477887"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28495496"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28832985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5590 ; owl:annotatedTarget "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5592 ; owl:annotatedTarget "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11984707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5593 ; owl:annotatedTarget "A papillary adenocarcinoma that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5597 ; owl:annotatedTarget "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25163242"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5598 ; owl:annotatedTarget "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5602 ; owl:annotatedTarget "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5603 ; owl:annotatedTarget "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5604 ; owl:annotatedTarget "An acute lymphocytic leukemia occurring during adulthood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/medcabr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24065502"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5605 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/167320"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19380227"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21304887"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21892620"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050881 ; owl:annotatedTarget "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spinal_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5612 ; owl:annotatedTarget "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20368622"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050882 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eye_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5614 ; owl:annotatedTarget "An eye and adnexa disease that is located_in the eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/h9wrn7p72x26q035/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5621 ; owl:annotatedTarget "A sarcoma and hematologic cancer that derives_from follicular lymphoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040066 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger melphalan."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nature.com/articles/modpathol201082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5623 ; owl:annotatedTarget "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5624 ; owl:annotatedTarget "A bile duct carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5625 ; owl:annotatedTarget "An esophageal carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5626 ; owl:annotatedTarget "A thymic carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5627 ; owl:annotatedTarget "A gallbladder carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5628 ; owl:annotatedTarget "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5629 ; owl:annotatedTarget "A colon carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5630 ; owl:annotatedTarget "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5631 ; owl:annotatedTarget "An endometrial carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5634 ; owl:annotatedTarget "A prostate carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5636 ; owl:annotatedTarget "A cervical carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24859531"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5637 ; owl:annotatedTarget "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5641 ; owl:annotatedTarget "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5642 ; owl:annotatedTarget "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614559"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850"^^xsd:string, "url:http://www.uniprot.org/diseases/DI-03409"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22405087"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23438437"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050883 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5648 ; owl:annotatedTarget "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anaplastic_carcinoma"^^xsd:string, "url:http://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5651 ; owl:annotatedTarget "A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency"^^xsd:string, "url:http://omim.org/entry/615512"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16980388"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17424909"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23318931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050884 ; owl:annotatedTarget "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chiasmal_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5655 ; owl:annotatedTarget "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cranial_nerve_disease"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/mesh/68003389"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5656 ; owl:annotatedTarget "A neuropathy that is located_in one of the twelve cranial nerves."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25789031,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5658 ; owl:annotatedTarget "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5659 ; owl:annotatedTarget "A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5660 ; owl:annotatedTarget "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614732"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14760276"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22634751"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23719190"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24065356"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050885 ; owl:annotatedTarget "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ats.ctsnetjournals.org/cgi/content/full/78/5/1742"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5662 ; owl:annotatedTarget "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5665 ; owl:annotatedTarget "An ear cancer that is located_in the external ear."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=44330"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5670 ; owl:annotatedTarget "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Large_intestine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5672 ; owl:annotatedTarget "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24938660,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5675 ; owl:annotatedTarget "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5677 ; owl:annotatedTarget "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5679 ; owl:annotatedTarget "An eye disease that is located_in the retina."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5680 ; owl:annotatedTarget "An embryonal carcinoma that is located_in the testis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5681 ; owl:annotatedTarget "An embryonal carcinoma that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome"^^xsd:string, "url:http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1"^^xsd:string, "url:https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1247/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5683 ; owl:annotatedTarget "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/271510"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10797420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5684 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Werner_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15946710"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9288107"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5688 ; owl:annotatedTarget "A syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.mskcc.org/blog/what-s-new-liposarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26645460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5690 ; owl:annotatedTarget "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/SPG20"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/troyer-syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/gene/SPG20"^^xsd:string, "url:http://omim.org/entry/275900"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050886 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/k571r5t8637pg5p5/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5696 ; owl:annotatedTarget "A liposarcoma that is located_in the larynx."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/liposarcoma_of_the_ovary"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5697 ; owl:annotatedTarget "An ovary sarcoma that arises from fatty tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15689251"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30050631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5699 ; owl:annotatedTarget "A liposarcoma that is located_in the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aortic_insufficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_57 ; owl:annotatedTarget "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5701 ; owl:annotatedTarget "A breast sarcoma that arises from fat cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome"^^xsd:string, "url:http://www.omim.org/entry/107480"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12925729"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050887 ; owl:annotatedTarget "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25469348"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5711 ; owl:annotatedTarget "A vulvar sarcoma that has_material_basis in adipocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5713 ; owl:annotatedTarget "A liposarcoma that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/neuroblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5718 ; owl:annotatedTarget "An adrenal gland cancer that derives_from immature neuroblastic cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050888 ; owl:annotatedTarget "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5719 ; owl:annotatedTarget "An adrenal gland cancer that is located_in the adrenal medulla."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Optic_Atrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5723 ; owl:annotatedTarget "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050889 ; owl:annotatedTarget "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5724 ; owl:annotatedTarget "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2852648"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5725 ; owl:annotatedTarget "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22296276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5726 ; owl:annotatedTarget "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5727 ; owl:annotatedTarget "A uterine cancer that is located_in the ligaments that support the uterus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23815223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5728 ; owl:annotatedTarget "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5729 ; owl:annotatedTarget "A leiomyomatosis that is located within the blood vessels."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5730 ; owl:annotatedTarget "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Synucleinopathies"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050890 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Salpingitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5733 ; owl:annotatedTarget "A fallopian tube disease that is characterized by inflammation of the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_574 ; owl:annotatedTarget "A nervous system disease that affects the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas"^^xsd:string, "url:http://www.pathologyoutlines.com/topic/pancreasacinar.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5742 ; owl:annotatedTarget "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050891 ; owl:annotatedTarget "An adrenal adenoma that is a benign tumor of the adrenal cortex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5743 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Serous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5744 ; owl:annotatedTarget "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/ovarian"^^xsd:string, "url:http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5746 ; owl:annotatedTarget "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://journals.sagepub.com/doi/pdf/10.1177/1066896915622690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5747 ; owl:annotatedTarget "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/types/pheochromocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050892 ; owl:annotatedTarget "A malignant pheochromocytoma that is characterized by overproduction of adrenaline."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Uterine_serous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5750 ; owl:annotatedTarget "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5751 ; owl:annotatedTarget "A serous cystadenocarcinoma tha tis located_in the pancreas."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25370301"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5752 ; owl:annotatedTarget "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23134447"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29370498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5757 ; owl:annotatedTarget "A cervicitis that is located_in the endocervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Proteinuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_576 ; owl:annotatedTarget "A kidney disease that is characterized by the presence of excess proteins in the urine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5760 ; owl:annotatedTarget "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10535578"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5761 ; owl:annotatedTarget "A vulva carcinoma that is characterized by the presence of sebaceous secretions."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/nager-syndrome"^^xsd:string, "url:http://www.faces-cranio.org/Disord/Nager.htm"^^xsd:string, "url:http://www.nagerormillersynd.com/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5768 ; owl:annotatedTarget "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5772 ; owl:annotatedTarget "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Oral_submucous_fibrosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5773 ; owl:annotatedTarget "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_580 ; owl:annotatedTarget "A nephrolithiasis that is characterized by stones composed predominantly uric acid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26731888"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29377232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5805 ; owl:annotatedTarget "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/2166947/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/2783588/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5810 ; owl:annotatedTarget "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii"^^xsd:string, "url:https://www.omim.org/entry/209920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5812 ; owl:annotatedTarget "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/1384322/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3029074/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5813 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma"^^xsd:string, "url:http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10563426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5815 ; owl:annotatedTarget "A cerebrum cancer that affects the lymph cells and derives_from the brain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=633086"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5820 ; owl:annotatedTarget "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gray_zone_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5822 ; owl:annotatedTarget "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26380896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5826 ; owl:annotatedTarget "A breast cancer that arises_from lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25120828"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5828 ; owl:annotatedTarget "An ovary adenocarcinoma that has_material_basis_in endometrial tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://journals.sagepub.com/doi/pdf/10.1177/1066896915622690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5829 ; owl:annotatedTarget "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23722512"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5830 ; owl:annotatedTarget "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8946874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5831 ; owl:annotatedTarget "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Myocardial_infarction"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17951287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5844 ; owl:annotatedTarget "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/kidney-stones"^^xsd:string, "url:https://medlineplus.gov/kidneystones.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_585 ; owl:annotatedTarget "A kidney disease characterized by the formation of stoney concentrations in the kidneys."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bmj.com/cgi/reprint/1/4177/115.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_587 ; owl:annotatedTarget "A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eosinophilic_pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5870 ; owl:annotatedTarget "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retroperitoneal_space"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5875 ; owl:annotatedTarget "An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/514560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5895 ; owl:annotatedTarget "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6692303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5896 ; owl:annotatedTarget "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28861185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5897 ; owl:annotatedTarget "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_591 ; owl:annotatedTarget "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8950762"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5915 ; owl:annotatedTarget "An uterine corpus leiomyomatosis that is located_in the blood vessels."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23383444"^^xsd:string, "url:https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5916 ; owl:annotatedTarget "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18754301"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5917 ; owl:annotatedTarget "An uterine corpus leiomyomatosis that is located throughout the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_593 ; owl:annotatedTarget "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25366470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5936 ; owl:annotatedTarget "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_594 ; owl:annotatedTarget "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050893 ; owl:annotatedTarget "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13056223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5973 ; owl:annotatedTarget "A papillary carcinoma that is located_in the kidney pelvis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cebp.aacrjournals.org/content/18/7/2061.abstract"^^xsd:string, "url:http://emedicine.medscape.com/article/219110-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5979 ; owl:annotatedTarget "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1768219"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5983 ; owl:annotatedTarget "A kidney sarcoma that starts in the bones and that is located in the kidney."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Specific_phobia"^^xsd:string, "url:http://www.healthyplace.com/other-info/psychiatric-disorder-definitions/specific-simple-phobia/menu-id-71/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_599 ; owl:annotatedTarget "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27483712"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5997 ; owl:annotatedTarget "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5998 ; owl:annotatedTarget "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20123450"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_5999 ; owl:annotatedTarget "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change."^^xsd:string . [] oboInOwl:hasDbXref "url:http://hubpages.com/hub/list-of-animal-phobias"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_600 ; owl:annotatedTarget "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6000 ; owl:annotatedTarget "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Appendix"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15807474"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60000 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the appendix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23737196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60001 ; owl:annotatedTarget "An artery disease that is located in the lungs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26195958"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60002 ; owl:annotatedTarget "A female reproductive system disease that is located in Bartholin's gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60003 ; owl:annotatedTarget "A vulva cancer that is located in Bartholin's gland."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebral_circulation"^^xsd:string, "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60007 ; owl:annotatedTarget "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60008 ; owl:annotatedTarget "An endocrine organ benign neoplasm that is located_in some parathyroid gland."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_60009 ; owl:annotatedTarget "A benign neoplasm located in the pituitary gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6001 ; owl:annotatedTarget "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=20.02d&code=C4983&ns=ncit&type=properties&key=null&b=1&n=0&vse=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6003 ; owl:annotatedTarget "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medical/aleukemic%20leukemia"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6004 ; owl:annotatedTarget "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6017 ; owl:annotatedTarget "A mature teratoma that is located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6019 ; owl:annotatedTarget "A malignant teratoma that is located_in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24717782"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28778662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6024 ; owl:annotatedTarget "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK507905/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6025 ; owl:annotatedTarget "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16434949"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6034 ; owl:annotatedTarget "A heart sarcoma that is a soft tissue sarcoma located in the heart."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6037 ; owl:annotatedTarget "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/UvealMelanoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Uveal_melanoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6039 ; owl:annotatedTarget "A uveal cancer that has_material_basis_in uvea pigment cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6041 ; owl:annotatedTarget "A malignant choroid melanoma that is located_in the choroid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17545559/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6043 ; owl:annotatedTarget "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq"^^xsd:string, "url:http://www.ophthobook.com/chapters/infections"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6045 ; owl:annotatedTarget "A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fear_of_flying"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_605 ; owl:annotatedTarget "A specific phobia that is characterized by a fear of flying."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Esophageal_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6050 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the esophagus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23559398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6053 ; owl:annotatedTarget "A germ cell cancer that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6067 ; owl:annotatedTarget "An ovary epithelial cancer that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8649322"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9949591"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6083 ; owl:annotatedTarget "An ovarian endodermal sinus tumor that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24395845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6084 ; owl:annotatedTarget "An ovarian germ cell cancer that presents in childhood."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6088 ; owl:annotatedTarget "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050894 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6101 ; owl:annotatedTarget "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1063088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6102 ; owl:annotatedTarget "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050895 ; owl:annotatedTarget "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_612 ; owl:annotatedTarget "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation."^^xsd:string . [] oboInOwl:hasDbXref "url:http://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6122 ; owl:annotatedTarget "An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string, "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6126 ; owl:annotatedTarget "An anal canal cancer that derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Gliomatosis_cerebri"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6128 ; owl:annotatedTarget "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/bronchitis.html"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6132 ; owl:annotatedTarget "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6139 ; owl:annotatedTarget "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphopenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_614 ; owl:annotatedTarget "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6148 ; owl:annotatedTarget "An in situ carcinoma that is located_in the nasal cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Leukopenia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_615 ; owl:annotatedTarget "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050896 ; owl:annotatedTarget "A bone carcinoma that derives_from squamous epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.org/viralzone/all_by_species/91.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_616 ; owl:annotatedTarget "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6160 ; owl:annotatedTarget "A choriocarcinoma of the testis that is present during childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6162 ; owl:annotatedTarget "An embryonal testis carcinoma that occurs in children."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Retroviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_617 ; owl:annotatedTarget "A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6170 ; owl:annotatedTarget "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Carcinosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6171 ; owl:annotatedTarget "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050897 ; owl:annotatedTarget "A chondrosarcoma that is located_in bone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6179 ; owl:annotatedTarget "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6180 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6190 ; owl:annotatedTarget "A sarcoma of the rectum that results_in lesions that are located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Epithelioid_sarcoma"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6193 ; owl:annotatedTarget "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conjunctivitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6195 ; owl:annotatedTarget "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reactive_arthritis"^^xsd:string, "url:http://www.about-reactive-arthritis.com/"^^xsd:string, "url:http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6196 ; owl:annotatedTarget "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondroma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050898 ; owl:annotatedTarget "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://wjso.com/content/4/1/23"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6209 ; owl:annotatedTarget "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_621 ; owl:annotatedTarget "A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6211 ; owl:annotatedTarget "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endometrial_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6212 ; owl:annotatedTarget "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6214 ; owl:annotatedTarget "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6217 ; owl:annotatedTarget "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.ch/viralzone/all_by_species/264.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_622 ; owl:annotatedTarget "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30165903"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6229 ; owl:annotatedTarget "A mature teratoma of the ovary that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/682093"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6230 ; owl:annotatedTarget "An ovarian germ cell teratoma that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20212374"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6231 ; owl:annotatedTarget "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.tandfonline.com/doi/abs/10.1586/eog.10.80"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6232 ; owl:annotatedTarget "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.diagnosticpathology.org/content/2/1/25"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6250 ; owl:annotatedTarget "An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Complement_deficiency"^^xsd:string, "url:http://www.primaryimmune.org/publications/book_pats/e_ch01.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_626 ; owl:annotatedTarget "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6262 ; owl:annotatedTarget "A dendritic cell sarcoma cancer that effects the follicular dendritic cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6263 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli."^^xsd:string . [] dc:type obo:ECO_0007643, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency"^^xsd:string, "url:http://www.scid.net/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_627 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23297622"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6278 ; owl:annotatedTarget "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Combined_immunodeficiencies"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1"^^xsd:string, "url:https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_628 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23438624"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6284 ; owl:annotatedTarget "A heart lipoma that is located_in the epicardium and derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050899 ; owl:annotatedTarget "A brain stem cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12597248"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6293 ; owl:annotatedTarget "A central nervous system benign neoplasm that derives_from fat cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpes_simplex"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000646.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6296 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sacrum"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45297"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050900 ; owl:annotatedTarget "A spinal chordoma that is located_in the sacrum."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_630 ; owl:annotatedTarget "A disease that has_material_basis_in genetic variations in the human genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6312 ; owl:annotatedTarget "A chordoma of skull base that is located in the clivus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6313 ; owl:annotatedTarget "A chondroid chordoma and chordoma of the clivus that is located_in the clivus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28446797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6314 ; owl:annotatedTarget "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27636886"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6315 ; owl:annotatedTarget "A mature teratoma of the ovary that is predominantly solid with interspersed cysts."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7272963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6316 ; owl:annotatedTarget "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30210255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6322 ; owl:annotatedTarget "An adamantinoma of long bone that is located_in the tibia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/myositis.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Myositis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_633 ; owl:annotatedTarget "A myopathy characterized by muscle inflammation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26142911"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6331 ; owl:annotatedTarget "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27832810"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6339 ; owl:annotatedTarget "A vulva adenocarcinoma that has_material_basis in eccrine glands."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/AIDS"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_635 ; owl:annotatedTarget "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=641291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6354 ; owl:annotatedTarget "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://onlinelibrary.wiley.com/doi/10.1111/ene.12571/epdf"^^xsd:string, "url:https://en.wikipedia.org/wiki/Central_pontine_myelinolysis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_636 ; owl:annotatedTarget "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Corpus_callosum"^^xsd:string, "url:http://en.wikipedia.org/wiki/Oligodendroglioma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=46257"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050901 ; owl:annotatedTarget "A brain oligodendroglioma located_in the corpus callosum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Migraine"^^xsd:string, "url:http://www.mayoclinic.com/health/migraine-headache/DS00120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6364 ; owl:annotatedTarget "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Lentigo"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6367 ; owl:annotatedTarget "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45780"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050902 ; owl:annotatedTarget "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_639 ; owl:annotatedTarget "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S0002961041905159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6405 ; owl:annotatedTarget "An ovarian cystadenoma that is characterized by the presence of finger-like projections."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/439088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6407 ; owl:annotatedTarget "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7185762"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6408 ; owl:annotatedTarget "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10872669"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25207054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6428 ; owl:annotatedTarget """A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells."""^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46432"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050903 ; owl:annotatedTarget "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec16/ch217/ch217f.html"^^xsd:string, "url:http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/pml/pml.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_643 ; owl:annotatedTarget "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pulmonary_hypertension"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19555858"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6432 ; owl:annotatedTarget "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24179652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6448 ; owl:annotatedTarget "A vulva adenocarcinoma that has_material_basis in apocrine glands."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cowden_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cowden-syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6457 ; owl:annotatedTarget "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/14978145"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_646 ; owl:annotatedTarget "An encephalitis that involves inflammation of the brain caused by viral infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24950559"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6460 ; owl:annotatedTarget "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23297622"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6468 ; owl:annotatedTarget "A cystadenofibroma that is characterized by the presence of mucin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1996729"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6469 ; owl:annotatedTarget "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Polyomavirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_647 ; owl:annotatedTarget "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10320920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6483 ; owl:annotatedTarget "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Prion"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvrd/prions/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_649 ; owl:annotatedTarget "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/breasthemangioma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26687640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6491 ; owl:annotatedTarget "A breast hemangioma that is characterized by capillary-sized vessels."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6492 ; owl:annotatedTarget "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/myxoid-chondrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6495 ; owl:annotatedTarget "An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Myxoid_chondrosarcoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Myxoid_tumor"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10564384"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6496 ; owl:annotatedTarget "An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21616561"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040067 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050904 ; owl:annotatedTarget "A salivary gland cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_65 ; owl:annotatedTarget "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23091756"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050905 ; owl:annotatedTarget "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hemangioblastoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19787293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6501 ; owl:annotatedTarget "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6505 ; owl:annotatedTarget "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25395492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6511 ; owl:annotatedTarget "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6512 ; owl:annotatedTarget "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6514 ; owl:annotatedTarget "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9785128"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6518 ; owl:annotatedTarget "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_653 ; owl:annotatedTarget "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6536 ; owl:annotatedTarget "A mature B-cell neoplasm that is composed of plasma cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Conjunctiva"^^xsd:string, "url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050906 ; owl:annotatedTarget "A sensory organ benign neoplasm that is located in the eye conjunctiva."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Overnutrition"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_654 ; owl:annotatedTarget "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6543 ; owl:annotatedTarget "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/mesh/68008659"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_655 ; owl:annotatedTarget "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=444993"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050907 ; owl:annotatedTarget "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6692303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6554 ; owl:annotatedTarget "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050908 ; owl:annotatedTarget "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_656 ; owl:annotatedTarget "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26866354"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6567 ; owl:annotatedTarget "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45774"^^xsd:string, "url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050909 ; owl:annotatedTarget "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://coloncancer.about.com/od/glossaries/g/Adenoma.htm"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_657 ; owl:annotatedTarget "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10451260"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6579 ; owl:annotatedTarget "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/apocrinecabr/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23771415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6581 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21111455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6585 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6587 ; owl:annotatedTarget "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6612 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18603704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6613 ; owl:annotatedTarget "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6620 ; owl:annotatedTarget "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cavernous_hemangioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6621 ; owl:annotatedTarget "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23936961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6627 ; owl:annotatedTarget "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6629 ; owl:annotatedTarget "A breast carcinoma that is located_in the nipple."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasOBONamespace"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasOBONamespace ; owl:annotatedTarget "Name space of the ontology."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Choriocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6634 ; owl:annotatedTarget "A choriocarcinoma that is located in the central nervous system of an adult."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ajnr.org/content/31/10/1994"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6639 ; owl:annotatedTarget "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7074576"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6641 ; owl:annotatedTarget "A breast papillomatosis that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6652 ; owl:annotatedTarget "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6657 ; owl:annotatedTarget "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30642849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6659 ; owl:annotatedTarget "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characerized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adiposogenital_dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6676 ; owl:annotatedTarget "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21295898"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6677 ; owl:annotatedTarget "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6678 ; owl:annotatedTarget "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myositis_ossificans"^^xsd:string, "url:http://www.merriam-webster.com/medlineplus/myositis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_668 ; owl:annotatedTarget "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Capgras_delusion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6680 ; owl:annotatedTarget "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondylolisthesis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm"^^xsd:string, "url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6682 ; owl:annotatedTarget "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6683 ; owl:annotatedTarget "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achard_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6686 ; owl:annotatedTarget "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6688 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aagenaes_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6691 ; owl:annotatedTarget "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6692 ; owl:annotatedTarget "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/testicular_monophasic_choriocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6693 ; owl:annotatedTarget "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amphetamine_Abuse"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_670 ; owl:annotatedTarget "A substance abuse that involves the recurring use of amphetamines despite negative consequences."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6712 ; owl:annotatedTarget "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebrovascular_disease"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK378/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6713 ; owl:annotatedTarget "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_672 ; owl:annotatedTarget "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urethral_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6721 ; owl:annotatedTarget "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spinal_stenosis"^^xsd:string, "url:http://www.mayoclinic.com/health/spinal-stenosis/DS00515"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm"^^xsd:string, "url:http://www.spinalstenosis.org/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6725 ; owl:annotatedTarget "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrillary_astrocytoma"^^xsd:string, "url:http://www.braintumour.ca/4877/diffuse-astrocytoma-/-fibrillary-astrocytoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45602"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6726 ; owl:annotatedTarget "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050910 ; owl:annotatedTarget "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=cleftpalate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_674 ; owl:annotatedTarget "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6741 ; owl:annotatedTarget "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19813171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6752 ; owl:annotatedTarget "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chest_wall"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6758 ; owl:annotatedTarget "A thoracic cancer that is located_in the chest wall."^^xsd:string . [] oboInOwl:hasDbXref "url:http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm"^^xsd:string, "url:https://orthoinfo.aaos.org/en/diseases--conditions/primary-lymphoma-of-bone"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6759 ; owl:annotatedTarget "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=44233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050911 ; owl:annotatedTarget "An appendix cancer that has_material_basis_in neurodendocrine cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm"^^xsd:string, "url:http://www.umm.edu/ency/article/000451.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_676 ; owl:annotatedTarget "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polyembryoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6774 ; owl:annotatedTarget "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6776 ; owl:annotatedTarget "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8179072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6777 ; owl:annotatedTarget "An endometrial adenocarcinoma that is characterized by papillary differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/psp/psp.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_678 ; owl:annotatedTarget "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor"^^xsd:string, "url:https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6785 ; owl:annotatedTarget "A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8088765"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6786 ; owl:annotatedTarget "A botryoid rhabdomyosarcoma that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27870705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6787 ; owl:annotatedTarget "A vagina botryoid rhabdomyosarcoma that presents in childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15887839"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6788 ; owl:annotatedTarget "A botryoid rhabdomyosarcoma that is located_in the vagina."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8462290"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040068 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Basal_ganglia_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_679 ; owl:annotatedTarget "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia with_material_basis_in diseased components of the basal ganglia and associated neural circuits."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tauopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_680 ; owl:annotatedTarget "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=45708"^^xsd:string, "url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6801 ; owl:annotatedTarget "A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient."^^xsd:string . [] oboInOwl:hasDbXref "url:http://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6803 ; owl:annotatedTarget "A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6804 ; owl:annotatedTarget "A sarcoma of colon that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25672089"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6809 ; owl:annotatedTarget "A vaginal adenoma that resembles the colorectal tubular adenoma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6811 ; owl:annotatedTarget "A pilocytic astrocytoma that occurs during adolescence."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6812 ; owl:annotatedTarget "A pilocytic astrocytoma that occurs during childhood."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19268906"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6827 ; owl:annotatedTarget "A pancreatic carcinoma that is characterized by its papillary architecture."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9416702"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6837 ; owl:annotatedTarget "A rete ovarii benign neoplasm that derives_from glandular epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21139896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6838 ; owl:annotatedTarget "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.hindawi.com/journals/ijso/2012/501904/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6839 ; owl:annotatedTarget "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Hepatocellular_carcinoma"^^xsd:string, "url:http://www.omim.org/entry/114550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_684 ; owl:annotatedTarget "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6841 ; owl:annotatedTarget "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17955586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6847 ; owl:annotatedTarget "A botryoid rhabdomyosarcoma that is present in an adult."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2190875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6848 ; owl:annotatedTarget "A vagina botryoid rhabdomyosarcoma that presents in adulthood."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6849 ; owl:annotatedTarget "A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28236067"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6857 ; owl:annotatedTarget "A mature teratoma that is located_in the pineal region."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Liver_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_686 ; owl:annotatedTarget "A liver cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6865 ; owl:annotatedTarget "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=46217"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050912 ; owl:annotatedTarget "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Skin_tag"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6873 ; owl:annotatedTarget "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=44250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_688 ; owl:annotatedTarget "A germ cell cancer that is associated with an embryo."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6880 ; owl:annotatedTarget "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6895 ; owl:annotatedTarget "A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24643255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6898 ; owl:annotatedTarget "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6903 ; owl:annotatedTarget "A lymphoma by site that is manifested in immune system cells called lymphocytes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.aidsinfonet.org/fact_sheets/view/509"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6905 ; owl:annotatedTarget "A herpes zoster that is complicated_by AIDS."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28656356"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6906 ; owl:annotatedTarget "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29737052"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6938 ; owl:annotatedTarget "An intraocular retinoblastoma that effects children."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Meningioma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15886506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6939 ; owl:annotatedTarget "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11109167"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6943 ; owl:annotatedTarget "An inverted follicular keratosis that is located_in the vulva."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2067992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6948 ; owl:annotatedTarget "A malignant teratoma that has_material_basis_in gastric tissue."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://neurolex.org/wiki/Category:Combat_Disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6950 ; owl:annotatedTarget "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress."^^xsd:string . [] oboInOwl:hasDbXref "url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6954 ; owl:annotatedTarget "An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6958 ; owl:annotatedTarget "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22369423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6961 ; owl:annotatedTarget "A Bartholin's gland carcinoma that derives_from squamous epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16845316"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_6969 ; owl:annotatedTarget "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_699 ; owl:annotatedTarget "A myopathy that is characterized by mitochondrial dysfunction."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7 ; owl:annotatedTarget "A disease that manifests in a defined anatomical structure."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mitochondrial_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_700 ; owl:annotatedTarget "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cushing%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7004 ; owl:annotatedTarget "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dentin_dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_701 ; owl:annotatedTarget "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24772358"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7013 ; owl:annotatedTarget "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26665243"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7016 ; owl:annotatedTarget "A synovium neoplasm that is located_in the tendon sheath."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050913 ; owl:annotatedTarget "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24760498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7031 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the glottis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19144165"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7032 ; owl:annotatedTarget "A clear cell adenocarcinoma that is located_in the bile duct."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7033 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3983017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7037 ; owl:annotatedTarget "An immature teratoma of overy that presents in childhood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30695899"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31393622"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7046 ; owl:annotatedTarget "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hindawi.com/journals/jsc/2011/951250/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7048 ; owl:annotatedTarget "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7061 ; owl:annotatedTarget "A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/B-cell_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_707 ; owl:annotatedTarget "A non-Hodgkin lymphoma that has_material_basis_in B cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23772254"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7071 ; owl:annotatedTarget "A dermoid cyst that is located_in the spinal cord."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7076 ; owl:annotatedTarget "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27038684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7079 ; owl:annotatedTarget "A cystic teratoma that is present in an adult."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.medilexicon.com/medicaldictionary.php?t=49026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_710 ; owl:annotatedTarget "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hairy_cell_leukemia"^^xsd:string, "url:http://www.medterms.com/script/main/art.asp?articlekey=5274"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_711 ; owl:annotatedTarget "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=45708"^^xsd:string, "url:http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_712 ; owl:annotatedTarget "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28466074"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29552345"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7138 ; owl:annotatedTarget "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24615329"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7139 ; owl:annotatedTarget "An small cell carcinoma that has_material_basis in small cells and located_in the endometrium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7140 ; owl:annotatedTarget "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma"^^xsd:string, "url:http://www.wrongdiagnosis.com/l/langerhans_cell_sarcoma/intro.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7146 ; owl:annotatedTarget "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ankylosing_spondylitis"^^xsd:string, "url:http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm"^^xsd:string, "url:http://www.spondylitis.org/about/as.aspx"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7147 ; owl:annotatedTarget "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rheumatoid_arthritis"^^xsd:string, "url:http://www.arthritis.org/disease-center.php?disease_id=31"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7148 ; owl:annotatedTarget "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7152 ; owl:annotatedTarget "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma"^^xsd:string, "url:https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma"^^xsd:string, "url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7154 ; owl:annotatedTarget "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_716 ; owl:annotatedTarget "A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7177 ; owl:annotatedTarget "An anal canal cancer that derives_from epithelial squamous cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_718 ; owl:annotatedTarget "An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Autoimmune_thyroiditis"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7188 ; owl:annotatedTarget "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/ovarian_endometrioid_cystadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7191 ; owl:annotatedTarget "An ovarian cystadenoma that is characterized by the presence of endometrial tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://codes.iarc.fr/code/3630"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7202 ; owl:annotatedTarget "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15974814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7221 ; owl:annotatedTarget "A papillary carcioma that is located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7223 ; owl:annotatedTarget "A breast fibroadenoma that is larger than 5 cm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq"^^xsd:string, "url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7231 ; owl:annotatedTarget "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17997317"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7233 ; owl:annotatedTarget "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK448105/", "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7234 ; owl:annotatedTarget "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas."^^xsd:string . [] oboInOwl:hasDbXref "url:http://jco.ascopubs.org/cgi/content/short/28/16/e250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7238 ; owl:annotatedTarget "An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/uterine_corpus_apoplectic_leiomyoma"^^xsd:string, "url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7241 ; owl:annotatedTarget "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25490906"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7242 ; owl:annotatedTarget "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7263 ; owl:annotatedTarget "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Episcleritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_728 ; owl:annotatedTarget "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cancernetwork.com/cancer-management/uterine-corpus-tumors"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7281 ; owl:annotatedTarget "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17008874"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040069 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterussecretory.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7289 ; owl:annotatedTarget "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/mucin_rich_endometrial_endometrioid_adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7293 ; owl:annotatedTarget "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7305 ; owl:annotatedTarget "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_731 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/urethraldisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_732 ; owl:annotatedTarget "A urinary system disease that is located_in the urethra."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7320 ; owl:annotatedTarget "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050914 ; owl:annotatedTarget "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7328 ; owl:annotatedTarget "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/53763553187824h3/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7332 ; owl:annotatedTarget "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_734 ; owl:annotatedTarget "An urinary tract cancer that derives_from the tissues of the urethra."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7340 ; owl:annotatedTarget "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hyperthecosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7347 ; owl:annotatedTarget "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16032717"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7363 ; owl:annotatedTarget "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.malecare.com/new_page_91.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7371 ; owl:annotatedTarget "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7379 ; owl:annotatedTarget "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11107057"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7388 ; owl:annotatedTarget "A leiomyosarcoma that is located_in the pulmonary vein."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22214627"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7389 ; owl:annotatedTarget "A leiomyosarcoma that is located_in the pulmonary artery."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7390 ; owl:annotatedTarget "A leiomyosarcoma that is located_in the superior vena cava."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hematopathology"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1741/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_74 ; owl:annotatedTarget "A disease of anatomical entity that has_material_basis_in hematopoietic cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3277755"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9042920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7400 ; owl:annotatedTarget "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24719870"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7408 ; owl:annotatedTarget "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7409 ; owl:annotatedTarget "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/514560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7411 ; owl:annotatedTarget "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7426 ; owl:annotatedTarget "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7427 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Germinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7429 ; owl:annotatedTarget "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatographic_urticaria"^^xsd:string, "url:http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_743 ; owl:annotatedTarget "A physical urticaria induced by stroking of the skin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7430 ; owl:annotatedTarget "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7436 ; owl:annotatedTarget "An endometrial adenocarcinoma that has_material_basis in mesenchymal elements."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusPEComa.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24698426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7437 ; owl:annotatedTarget "A perivascular epithelioid cell tumor that is located_in the uterus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22747504"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7438 ; owl:annotatedTarget "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7442 ; owl:annotatedTarget "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19893140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_745 ; owl:annotatedTarget "A male reproductive organ benign neoplasm that is located_in the epididymis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7457 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7459 ; owl:annotatedTarget "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25822766"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7460 ; owl:annotatedTarget "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7461 ; owl:annotatedTarget "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8624463"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7465 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7474 ; owl:annotatedTarget "A pleural cancer that has_material_basis_in mesothelium cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Diverticulitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7475 ; owl:annotatedTarget "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11688467"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31651557"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7483 ; owl:annotatedTarget "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7488 ; owl:annotatedTarget "A female urethral cancer located_in the posterior urethra."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease"^^xsd:string, "url:http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7489 ; owl:annotatedTarget "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050915 ; owl:annotatedTarget "An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ependyma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7497 ; owl:annotatedTarget "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.aids.org/topics/human-papillomavirus-hpv/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7498 ; owl:annotatedTarget "A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphatic_disease"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_75 ; owl:annotatedTarget "An immune system disease that is located_in the lymphatic system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20690568"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7503 ; owl:annotatedTarget "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23640929"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7511 ; owl:annotatedTarget "A breast papillomatosis that is located within the ducts."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7516 ; owl:annotatedTarget "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2067992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7519 ; owl:annotatedTarget "A cervix carcinoma that is located_in the endocervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23533258"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7520 ; owl:annotatedTarget "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string, "url:http://oralcancerfoundation.org/facts/rare/mc/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050916 ; owl:annotatedTarget "A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1709559"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7521 ; owl:annotatedTarget "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7522 ; owl:annotatedTarget "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.health.mil/Reference-Center/Publications/2016/06/01/Gonorrhea-Final,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7527 ; owl:annotatedTarget "An acute endometritis that is caused by gonorrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://librepathology.org/wiki/Endometritis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23537790"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7528 ; owl:annotatedTarget "An endometritis that is characterized by onset within the past 1 - 3 days."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7531 ; owl:annotatedTarget "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7537 ; owl:annotatedTarget "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25862065"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7538 ; owl:annotatedTarget "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25835417"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7539 ; owl:annotatedTarget "A breast adenoma that occurs during pregnancy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_754 ; owl:annotatedTarget "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17936522"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7540 ; owl:annotatedTarget "A breast adenoma that is characterized by apocine differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7541 ; owl:annotatedTarget "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7551 ; owl:annotatedTarget "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/1167145-overview"^^xsd:string, "url:http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7555 ; owl:annotatedTarget "A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7565 ; owl:annotatedTarget "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.archivesofpathology.org/doi/full/10.1043/1543-2165-134.5.781?code=coap-site"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7567 ; owl:annotatedTarget "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7575 ; owl:annotatedTarget "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7578 ; owl:annotatedTarget "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7591 ; owl:annotatedTarget "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28217683"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7598 ; owl:annotatedTarget "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040070 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger co-trimoxazole."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stomach_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_76 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Parathyroid_adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7608 ; owl:annotatedTarget "A parathyroid gland benign neoplam that is located_in the parathyroid."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merriam-webster.com/dictionary/sarcomatosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7615 ; owl:annotatedTarget "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cowper_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7632 ; owl:annotatedTarget "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45327"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050917 ; owl:annotatedTarget "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23896708"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7650 ; owl:annotatedTarget "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7651 ; owl:annotatedTarget "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7664 ; owl:annotatedTarget "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20090265"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7665 ; owl:annotatedTarget "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/retinoblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_768 ; owl:annotatedTarget "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/types/neuroblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_769 ; owl:annotatedTarget "An autonomic nervous system neoplasm that derives_from immature nerve cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7693 ; owl:annotatedTarget "An aortic aneurysm that is located_in the abdominal aorta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_77 ; owl:annotatedTarget "A disease of anatomical entity that is located_in the gastrointestinal tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Candidiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7702 ; owl:annotatedTarget "An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18813124"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7704 ; owl:annotatedTarget "A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/173272-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7706 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/retinal_cancer.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_771 ; owl:annotatedTarget "A malignant neoplasm that derives_from the retina."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7712 ; owl:annotatedTarget "An adult sarcoma of soft tissue that derives_form the soft tissues of the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28276060"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28842445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7725 ; owl:annotatedTarget "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type."^^xsd:string . [] oboInOwl:hasDbXref "url:http://jco.ascopubs.org/content/25/29/4550.full.pdf+html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7739 ; owl:annotatedTarget "A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7747 ; owl:annotatedTarget "An extraocular retinoblastoma that effects children."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050918 ; owl:annotatedTarget "A vaginal cancer that has_material_basis_in epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ependyma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7750 ; owl:annotatedTarget "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7756 ; owl:annotatedTarget "A childhood leukemia that occurs during the neonatal period."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7757 ; owl:annotatedTarget "A leukemia that occurs in children."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://radiographics.rsna.org/content/15/3/653.abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7762 ; owl:annotatedTarget "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Delusional_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_778 ; owl:annotatedTarget "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Osteosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7787 ; owl:annotatedTarget "A breast sarcoma that arises from bone."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx"^^xsd:string, "url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7793 ; owl:annotatedTarget "A uterine Corpus sarcoma that has recurred after it has been treated."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Placenta_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_780 ; owl:annotatedTarget "A uterine disease that is located_in the placenta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050919 ; owl:annotatedTarget "A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/articles/eye2016275"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7808 ; owl:annotatedTarget "An uveal melanoma characterized by the presence of tumor cell necrosis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7810 ; owl:annotatedTarget "An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17033423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7812 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/173151-overview"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000667.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7814 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jco.ascopubs.org/cgi/content/full/20/2/521"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7827 ; owl:annotatedTarget "An osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK499861/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_783 ; owl:annotatedTarget "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/13678741"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7833 ; owl:annotatedTarget "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7834 ; owl:annotatedTarget "A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK499861/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_784 ; owl:annotatedTarget "A kidney failure that is characterized by the gradual loss of kidney function."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7841 ; owl:annotatedTarget "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7843 ; owl:annotatedTarget "A breast carcinoma that is manifested in the female breast."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7848 ; owl:annotatedTarget "A histiocytic and dendritic cell cancer that effect dendritic cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7849 ; owl:annotatedTarget "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050920 ; owl:annotatedTarget "A tonsil cancer that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23590013"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7878 ; owl:annotatedTarget "An atypical polypoid adenomyoma that is located_in the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7880 ; owl:annotatedTarget "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mite"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7894 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25674251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7910 ; owl:annotatedTarget "A squamous cell carcinoma that is located_in the maxillary sinus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7945 ; owl:annotatedTarget "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7953 ; owl:annotatedTarget "A nipple carcinoma that is located_in the nipple duct."^^xsd:string . [] oboInOwl:hasDbXref "url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7956 ; owl:annotatedTarget "An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7961 ; owl:annotatedTarget "A cervial squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7962 ; owl:annotatedTarget "An endometrial disease that is caused by tamoxifen exposure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10770427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7983 ; owl:annotatedTarget "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25650849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7984 ; owl:annotatedTarget "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/varicoseveins.html"^^xsd:string, "url:https://www.nhlbi.nih.gov/health/health-topics/topics/vv/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_799 ; owl:annotatedTarget "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050921 ; owl:annotatedTarget "A pharynx cancer that has_material_basis_in squamous cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22394559"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7997 ; owl:annotatedTarget "A thyroid gland disease that is characterized by excess thyroid hormone."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_7998 ; owl:annotatedTarget "A thyroid gland disease that involves an over production of thyroid hormone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22367299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8013 ; owl:annotatedTarget "A papillary carcinoma that is located_in the penis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8022 ; owl:annotatedTarget "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20407326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8023 ; owl:annotatedTarget "A myxoid liposarcoma that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8029 ; owl:annotatedTarget "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8036 ; owl:annotatedTarget "An ovarian embryonal carcinoma that occurs in childhood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8055 ; owl:annotatedTarget "A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1709559"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8068 ; owl:annotatedTarget "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040071 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger sodium aurothiomalate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050922 ; owl:annotatedTarget "A gastrointestinal system cancer that has_material_basis_in epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8084 ; owl:annotatedTarget "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cocaine_Abuse"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_809 ; owl:annotatedTarget "A substance abuse that involves the recurring use of cocaine despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12685182"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8094 ; owl:annotatedTarget "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_810 ; owl:annotatedTarget "A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23202776"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8104 ; owl:annotatedTarget "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/thyroidsettle.html"^^xsd:string, "url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19417583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2050369"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050923 ; owl:annotatedTarget "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25690482"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25833179"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_811 ; owl:annotatedTarget "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neuroinflammation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8117 ; owl:annotatedTarget "A central nervous system disease that is characterized by neuron inflammation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22953284"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8118 ; owl:annotatedTarget "A mature teratoma that has_material_basis in gastric tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=46139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050924 ; owl:annotatedTarget "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/osteochondrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8125 ; owl:annotatedTarget "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Septic_arthritis"^^xsd:string, "url:http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm"^^xsd:string, "url:http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_813 ; owl:annotatedTarget "An arthritis that involves infection by a pathogen located_in joint."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29658333"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8130 ; owl:annotatedTarget "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050925 ; owl:annotatedTarget "A small intestine cancer that has_material_basis_in cells of the neuroendocrine system."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://omim.org/entry/609536"^^xsd:string, "url:https://ghr.nlm.nih.gov/gene/C5"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8158 ; owl:annotatedTarget "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8160 ; owl:annotatedTarget "A desmoplastic small round-cell tumor that primarily is located_in the abdomen."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8161 ; owl:annotatedTarget "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/cervixadenomyoma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23805464"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8177 ; owl:annotatedTarget "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8685218"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8178 ; owl:annotatedTarget "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23805464"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8179 ; owl:annotatedTarget "A cervical adenomyoma that is aumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24219747"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8186 ; owl:annotatedTarget "A gestational choriocarcinoma that is located_in the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/gestational-choriocarcinoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16114202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8187 ; owl:annotatedTarget "A gestational choriocarcinoma that is located_in the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16720931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8188 ; owl:annotatedTarget "A choriocarcinoma that is located_in the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_819 ; owl:annotatedTarget "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nature.com/articles/s41433-018-0161-9"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25037086"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_82 ; owl:annotatedTarget "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myocarditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_820 ; owl:annotatedTarget "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8200 ; owl:annotatedTarget "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26549083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8211 ; owl:annotatedTarget "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/intraductal-papilloma-of-breast"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21310798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8224 ; owl:annotatedTarget "A breast duct papilloma that is located_in a major duct."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20407326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8227 ; owl:annotatedTarget "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8252 ; owl:annotatedTarget "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28087922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_827 ; owl:annotatedTarget "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8272 ; owl:annotatedTarget "A female urethral cancer located_in the anterior urethra."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11900581"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8275 ; owl:annotatedTarget "An embryonal testis carcinoma that is located within a tubule."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8283 ; owl:annotatedTarget "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8295 ; owl:annotatedTarget "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cataract"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10414631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_83 ; owl:annotatedTarget "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25755804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8302 ; owl:annotatedTarget "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8304 ; owl:annotatedTarget "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called \"amianthoid\" fibers."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8307 ; owl:annotatedTarget "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8310 ; owl:annotatedTarget "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050926 ; owl:annotatedTarget "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ear"^^xsd:string, "url:http://www.buzzle.com/articles/ear-cancer.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_833 ; owl:annotatedTarget "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.sciencedirect.com/science/article/pii/S1875957211000349"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8336 ; owl:annotatedTarget "A choriocarcinoma of the ovary that is present during childhood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/"^^xsd:string, "url:http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8337 ; owl:annotatedTarget "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.malacards.org/card/villoglandular_variant_cervical_mucinous_adenocarcinoma"^^xsd:string, "url:http://www.pathologyoutlines.com/topic/uterusvilloglandular.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8338 ; owl:annotatedTarget "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8339 ; owl:annotatedTarget "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14681654"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8352 ; owl:annotatedTarget "A vascular cancer that is located_in the aorta."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613779"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8354 ; owl:annotatedTarget "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14749637"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15318016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8361 ; owl:annotatedTarget "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteoarthritis"^^xsd:string, "url:http://www.mayoclinic.com/health/osteoarthritis/DS00019"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8398 ; owl:annotatedTarget "An arthritis that has_material_basis_in worn out cartilage located_in joint."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trombiculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8399 ; owl:annotatedTarget "A mite infestation that involves rash caused by Leptotrombidium deliense."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Osteochondritis_dissecans"^^xsd:string, "url:http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_84 ; owl:annotatedTarget "An ischemic bone disease that results_in necrosis located_in epiphysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_840 ; owl:annotatedTarget "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17021300"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17579156"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8408 ; owl:annotatedTarget "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8409 ; owl:annotatedTarget "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch051/ch051b.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_841 ; owl:annotatedTarget "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23771415"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25374127"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8428 ; owl:annotatedTarget "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera"^^xsd:string, "url:https://www.nhlbi.nih.gov/health-topics/polycythemia-vera"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8432 ; owl:annotatedTarget "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32638230/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK546609/"^^xsd:string, "url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8438 ; owl:annotatedTarget "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brachial_plexus_injury"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8443 ; owl:annotatedTarget "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20549505"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8445 ; owl:annotatedTarget "An intestinal obstruction characterized by abnormal rotation of the intestines."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_845 ; owl:annotatedTarget "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK470460/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8454 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK470579/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8455 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8456 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16207585"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8457 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aicardi_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/aicardi-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8461 ; owl:annotatedTarget "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation)"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8466 ; owl:annotatedTarget "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec17/ch198/ch198d.html"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/2003/fs211/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8469 ; owl:annotatedTarget "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050927 ; owl:annotatedTarget "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Melanoma"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15166669"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050928 ; owl:annotatedTarget "An ovarian cancer that has_material_basis_in melanoctyes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Actinomycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8478 ; owl:annotatedTarget "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arthritis"^^xsd:string, "url:http://www.arthritis.org/"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm"^^xsd:string, "url:https://www.cdc.gov/arthritis/index.htm"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_848 ; owl:annotatedTarget "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://nt.ars-grin.gov/fungaldatabases/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2735559"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8484 ; owl:annotatedTarget "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8485 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Polyhydramnios"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8488 ; owl:annotatedTarget "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29119259"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_849 ; owl:annotatedTarget "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nyctalopia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8499 ; owl:annotatedTarget "A retinal disease that is characterized by difficulty or the inability to see in relatively low light."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_850 ; owl:annotatedTarget "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17986299"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040072 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger parthenolide."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050929 ; owl:annotatedTarget "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dermatitis_herpetiformis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8502 ; owl:annotatedTarget "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Impetigo_herpetiformis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8503 ; owl:annotatedTarget "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8504 ; owl:annotatedTarget "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/bullous-pemphigoid/"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8506 ; owl:annotatedTarget "A pemphigoid that is characterized by large blisters."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12887119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_851 ; owl:annotatedTarget "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cor_pulmonale"^^xsd:string, "url:http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8515 ; owl:annotatedTarget "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050930 ; owl:annotatedTarget "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Barbiturate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8519 ; owl:annotatedTarget "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Monocytic_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8527 ; owl:annotatedTarget "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8529 ; owl:annotatedTarget "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/polymyalgiarheumatica.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_853 ; owl:annotatedTarget "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypopharynx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8533 ; owl:annotatedTarget "A pharynx cancer that is located_in the hypopharynx."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Parotid_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050931 ; owl:annotatedTarget "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/783223-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8535 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpes_zoster"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8536 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Connective_tissue_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_854 ; owl:annotatedTarget "A connective tissue disease that characterized by connective tissue disease that has_material_basis in inheritable defects in collagen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8544 ; owl:annotatedTarget "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Malignant_hyperthermia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8545 ; owl:annotatedTarget "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine)."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46755"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8552 ; owl:annotatedTarget "A myeloid leukemia that is characterized by over production of white blood cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050932 ; owl:annotatedTarget "A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=446523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8557 ; owl:annotatedTarget "A pharynx cancer that is located_in the oropharynx."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_856 ; owl:annotatedTarget "A multiple carboxylase deficiency that involves a deficiency in biotinidase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Serous_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050933 ; owl:annotatedTarget "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050934 ; owl:annotatedTarget "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpes_simplex"^^xsd:string, "url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8566 ; owl:annotatedTarget "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22835602"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8567 ; owl:annotatedTarget "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string, "url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15390353"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9262064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050935 ; owl:annotatedTarget "An extracranial neuroblastoma that has_material_basis_in immature nerve cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infectious_mononucleosis"^^xsd:string, "url:http://www.cdc.gov/ncidod/diseases/ebv.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8568 ; owl:annotatedTarget "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_857 ; owl:annotatedTarget "An amino acid metabolic disorder that involves failures of carboxylation enzymes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "MESH:D003093"^^xsd:string, "url:http://en.wikipedia.org/wiki/Ulcerative_colitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8577 ; owl:annotatedTarget "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8584 ; owl:annotatedTarget "A mature B-cell neoplasm of B-cells found in the germinal center."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_859 ; owl:annotatedTarget "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050936 ; owl:annotatedTarget "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8596 ; owl:annotatedTarget "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpetic_whitlow"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8607 ; owl:annotatedTarget "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string, "url:http://en.wiktionary.org/wiki/retroperitoneal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050937 ; owl:annotatedTarget "A retroperitoneal cancer that has_material_basis_in immature nerve cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Oral_cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8618 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the oral cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypersomnia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8619 ; owl:annotatedTarget "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Measles"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8622 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.jmedicalcasereports.com/content/3/1/7813"^^xsd:string, "url:http://www.merckmanuals.com/home/sec06/ch096/ch096e.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8625 ; owl:annotatedTarget "A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/breastlobular"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=426416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050938 ; owl:annotatedTarget "A breast carcinoma that derives_from breast lobules (milk glands)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_863 ; owl:annotatedTarget "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:hasRelatedSynonym ; owl:annotatedTarget "Has related synonym."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050939 ; owl:annotatedTarget "A uterine corpus cancer that is derives_from the inner lining of the uterus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf"^^xsd:string, "url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8632 ; owl:annotatedTarget "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25046199"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8634 ; owl:annotatedTarget "An in situ carcinoma that is located_in the prostate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Phlebitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_864 ; owl:annotatedTarget "A vein disease that is characterized by inflammation of a vein."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vasculitis"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/vas/"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/vasculitis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_865 ; owl:annotatedTarget "A vascular disease that is characterized by inflammation of the blood vessels."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/chickenpox.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8659 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vein#Venous_diseases"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_866 ; owl:annotatedTarget "A vascular disease that is located_in a vein."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8661 ; owl:annotatedTarget "An oral cavity carcinoma in situ that is located_in the lip."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8662 ; owl:annotatedTarget "A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1503726"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_867 ; owl:annotatedTarget "A cholesteatoma located_in paranasal sinus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Eating_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8670 ; owl:annotatedTarget "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lymphosarcoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8675 ; owl:annotatedTarget "A sarcoma that has_material_basis in lymphatic tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8687 ; owl:annotatedTarget "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anorexia_nervosa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8689 ; owl:annotatedTarget "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cholesteatoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26223725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_869 ; owl:annotatedTarget "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myeloid_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8692 ; owl:annotatedTarget "A leukemia that is located_in myeloid tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_870 ; owl:annotatedTarget "A nervous system disease that is located_in nerves or nerve cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12207781"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050940 ; owl:annotatedTarget "An endocervical carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] oboInOwl:hasDbXref "url:http://kidshealth.org/parent/infections/std/herpes.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8703 ; owl:annotatedTarget "A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/std/herpes/stdfact-herpes.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8704 ; owl:annotatedTarget "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8717 ; owl:annotatedTarget "Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8718 ; owl:annotatedTarget "A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8719 ; owl:annotatedTarget "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/vascular-dementia/DS00934"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8725 ; owl:annotatedTarget "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8729 ; owl:annotatedTarget "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17273843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050941 ; owl:annotatedTarget "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_873 ; owl:annotatedTarget "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8731 ; owl:annotatedTarget "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/csr/disease/smallpox/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8736 ; owl:annotatedTarget "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bacterial_pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_874 ; owl:annotatedTarget "A pneumonia involving inflammation of the lungs caused by bacteria."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8741 ; owl:annotatedTarget "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bmj.com/cgi/reprint/1/4608/741.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8752 ; owl:annotatedTarget "A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3128591"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040073 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger disodium cromoglycate."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22448145"^^xsd:string, "url:https://www.omim.org/entry/611390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050942 ; owl:annotatedTarget "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26228843/"^^xsd:string, "url:https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8761 ; owl:annotatedTarget "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8762 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001355.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8765 ; owl:annotatedTarget "A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Orf_%28disease%29"^^xsd:string, "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8771 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chron%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8778 ; owl:annotatedTarget "An intestinal disease that involves inflammation located_in intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rubella"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8781 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8785 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26431342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8791 ; owl:annotatedTarget "An in situ carcinoma that is located_in the breast."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20970105"^^xsd:string, "url:https://www.omim.org/entry/613672"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050943 ; owl:annotatedTarget "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8792 ; owl:annotatedTarget "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8800 ; owl:annotatedTarget "An in situ carcinoma that is located_in the lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8802 ; owl:annotatedTarget "An in situ carcinoma that is located_in the trachea."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8812 ; owl:annotatedTarget "A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_882 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22022284"^^xsd:string, "url:https://www.omim.org/entry/614487"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050944 ; owl:annotatedTarget "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/622667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8826 ; owl:annotatedTarget "An intestine carcinoma in situ that is located_in the colon."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Helminth"^^xsd:string, "url:http://en.wikipedia.org/wiki/Helminthiasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_883 ; owl:annotatedTarget "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8839 ; owl:annotatedTarget "An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_884 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sublingual_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8849 ; owl:annotatedTarget "A salivary gland cancer that is located_in the sublingual gland."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_885 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6821680"^^xsd:string, "url:https://www.omim.org/entry/108650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050945 ; owl:annotatedTarget "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=446528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8850 ; owl:annotatedTarget "An oral cavity cancer that is located_in the salivary gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29366725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8857 ; owl:annotatedTarget "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8864 ; owl:annotatedTarget "A monocytic leukemia where the majority of monocytic cells are promonocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24384335"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26344561"^^xsd:string, "url:https://www.omim.org/entry/270550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050946 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Molluscum_contagiosum"^^xsd:string, "url:http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8867 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neuromyelitis_optica"^^xsd:string, "url:http://rarediseases.org/rare-diseases/neuromyelitis-optica/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8869 ; owl:annotatedTarget "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trematoda"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_887 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8126803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8872 ; owl:annotatedTarget "An in situ carcinoma that is located_in the penis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8876 ; owl:annotatedTarget "A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_888 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/241530?search=241530&highlight=241530"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050947 ; owl:annotatedTarget "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8892 ; owl:annotatedTarget "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/psoriasis/index.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8893 ; owl:annotatedTarget "A skin disease that is characterized by patches of thick red skin and silvery scales."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8906 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://pn.bmj.com/content/15/3/164.long"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_891 ; owl:annotatedTarget "A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8912 ; owl:annotatedTarget "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8913 ; owl:annotatedTarget "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source."^^xsd:string . [] oboInOwl:hasDbXref "url:http://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8915 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Leukoplakia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8920 ; owl:annotatedTarget "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/melanoma"^^xsd:string, "url:http://en.wikipedia.org/wiki/Melanoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45135"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8923 ; owl:annotatedTarget "A skin cancer that has_material_basis_in melanocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/193100?search=193100&highlight=193100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26365554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050948 ; owl:annotatedTarget "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/immune-thrombocytopenia/"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8924 ; owl:annotatedTarget "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Learning_disability"^^xsd:string, "url:http://www.ldonline.org/ldbasics/whatisld"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8927 ; owl:annotatedTarget "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf"^^xsd:string, "url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8932 ; owl:annotatedTarget "An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Plantar_fibromatosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8936 ; owl:annotatedTarget "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cradle_cap"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8941 ; owl:annotatedTarget "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string, "url:https://www.omim.org/entry/122200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8943 ; owl:annotatedTarget "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sideroblastic_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8955 ; owl:annotatedTarget "An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8956 ; owl:annotatedTarget "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_896 ; owl:annotatedTarget "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8962 ; owl:annotatedTarget "A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/241520?search=241520&highlight=241520"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050949 ; owl:annotatedTarget "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8970 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_898 ; owl:annotatedTarget "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Narcolepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8986 ; owl:annotatedTarget "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8991 ; owl:annotatedTarget "An uterus carcinoma in situ that is located_in the uterine cervix."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polycythemia_vera"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_8997 ; owl:annotatedTarget "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Degenerative_disc_disease"^^xsd:string, "url:http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_90 ; owl:annotatedTarget "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome"^^xsd:string, "url:http://omim.org/entry/272120"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9007 ; owl:annotatedTarget "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050950 ; owl:annotatedTarget "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Psoriatic_arthropathy"^^xsd:string, "url:http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/psoriatic-arthritis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9008 ; owl:annotatedTarget "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://onlinelibrary.wiley.com/doi/pdf/10.1002/hed.2890070107"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9011 ; owl:annotatedTarget "An in situ carcinoma that is located_in the larynx."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1138"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050951 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancercenter.com/intestinal-cancer/symptoms/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9024 ; owl:annotatedTarget "An in situ carcinoma that is located_in the intestine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parotid_gland"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9036 ; owl:annotatedTarget "A salivary gland cancer that is located_in the parotid gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9043 ; owl:annotatedTarget "A cervix disease that is characterized by the presence of a hyperkeratotic lesion."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Zellweger_Syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_905 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24384335"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26344561"^^xsd:string, "url:https://www.omim.org/entry/270550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050952 ; owl:annotatedTarget "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Herpes_simplex"^^xsd:string, "url:http://en.wikipedia.org/wiki/Mollaret%27s_meningitis"^^xsd:string, "url:http://www.springerlink.com/content/u62658410432568k/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9051 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9053 ; owl:annotatedTarget "An in situ carcinoma that is located_in the bladder."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001052.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9059 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peroxisomal_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_906 ; owl:annotatedTarget "An inherited metabolic disorder that involves peroxisome malfunction."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9060 ; owl:annotatedTarget "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ritter%27s_disease"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9063 ; owl:annotatedTarget "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050953 ; owl:annotatedTarget "A hereditary ataxia that is characterized by X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9065 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9074 ; owl:annotatedTarget "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9087 ; owl:annotatedTarget "An in situ carcinoma that is located_in the anus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9091 ; owl:annotatedTarget "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7902023"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040074 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger formaldehyde."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050954 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6988210"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9095 ; owl:annotatedTarget "An in situ carcinoma that is located_in the esophagus."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18837699"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9098 ; owl:annotatedTarget "A skin disease that is located_in the sebaceous gland."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050955 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25423715"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9108 ; owl:annotatedTarget "An in situ carcinoma that is located_in the uterus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9111 ; owl:annotatedTarget "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050956 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Granuloma_inguinale"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9113 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://erj.ersjournals.com/content/21/5/886.full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9114 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9115 ; owl:annotatedTarget "A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia"^^xsd:string, "url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia"^^xsd:string, "url:http://www.cancer.gov/dictionary?cdrid=44363"^^xsd:string, "url:https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9119 ; owl:annotatedTarget "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Amyloidosis"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/33100054/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/33787033/"^^xsd:string, "url:https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9120 ; owl:annotatedTarget "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9123 ; owl:annotatedTarget "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050957 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_913 ; owl:annotatedTarget "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1657755"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9132 ; owl:annotatedTarget "An in situ carcinoma that is located_in the liver."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050958 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9138 ; owl:annotatedTarget "An in situ carcinoma that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9141 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Visceral_leishmaniasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9146 ; owl:annotatedTarget "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050959 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9153 ; owl:annotatedTarget "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bmj.com/cgi/content/full/329/7470/842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9155 ; owl:annotatedTarget "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1175/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050960 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gas_gangrene"^^xsd:string, "url:http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9159 ; owl:annotatedTarget "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9164 ; owl:annotatedTarget "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050961 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9169 ; owl:annotatedTarget "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/622667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9174 ; owl:annotatedTarget "An in situ carcinoma that is located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050962 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9180 ; owl:annotatedTarget "An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amoebiasis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9181 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pemphigus"^^xsd:string, "url:https://medlineplus.gov/pemphigus.html"^^xsd:string, "url:https://rarediseases.org/rare-diseases/pemphigus/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9182 ; owl:annotatedTarget "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causeing lesions and blisters that are easily ruptured."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/1194268-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9195 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050963 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Speech_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_92 ; owl:annotatedTarget "A communication disorder that involves difficulty with the act of speech production."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lichen_planus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9201 ; owl:annotatedTarget "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9207 ; owl:annotatedTarget "A sleep disorder that involves involuntary limb movement during sleep."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7525/index"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9210 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29302927/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9212 ; owl:annotatedTarget "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050964 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg"^^xsd:string, "url:http://en.wikipedia.org/wiki/Iridocyclitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9214 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9217 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Central_sleep_apnea"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9220 ; owl:annotatedTarget "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_rubella"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9228 ; owl:annotatedTarget "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://jamanetwork.com/journals/jamadermatology/fullarticle/654498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9230 ; owl:annotatedTarget "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050965 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4417875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9234 ; owl:annotatedTarget "An in situ carcinoma that is located_in the kidney."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Erythromelalgia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/erythromelalgia"^^xsd:string, "url:https://rarediseases.org/rare-diseases/erythromelalgia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9240 ; owl:annotatedTarget "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9245 ; owl:annotatedTarget "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9246 ; owl:annotatedTarget "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome"^^xsd:string, "url:http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9249 ; owl:annotatedTarget "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615768"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050966 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acrocallosal_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9250 ; owl:annotatedTarget "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9252 ; owl:annotatedTarget "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids."^^xsd:string . [] dc:type obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9254 ; owl:annotatedTarget "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Frontotemporal_dementia"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21121521"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9255 ; owl:annotatedTarget "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=444983"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9256 ; owl:annotatedTarget "A large intestine cancer that is located_in the colon and/or located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Waardenburg_syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9258 ; owl:annotatedTarget "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050967 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9261 ; owl:annotatedTarget "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Homocystinuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9263 ; owl:annotatedTarget "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Histidine#Metabolism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9265 ; owl:annotatedTarget "An amino acid metabolic disorder that involves deficiency in histidine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050968 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cystinuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9266 ; owl:annotatedTarget "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Urea_cycle_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9267 ; owl:annotatedTarget "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9268 ; owl:annotatedTarget "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9269 ; owl:annotatedTarget "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures."^^xsd:string . [] oboInOwl:hasDbXref "OMIM:246900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_9269 ; owl:annotatedTarget "dihydrolipoamide dehydrogenase deficiency"^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alkaptonuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9270 ; owl:annotatedTarget "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9271 ; owl:annotatedTarget "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050969 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Citrullinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9273 ; owl:annotatedTarget "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperlysinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9274 ; owl:annotatedTarget "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tyrosinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9275 ; owl:annotatedTarget "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.medlink.com/medlinkcontent.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9278 ; owl:annotatedTarget "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hyperhomocysteinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9279 ; owl:annotatedTarget "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050970 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9280 ; owl:annotatedTarget "A urea cycle disorder that involves accumulation of ammonia in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Phenylketonuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9281 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ocular_hypertension"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9282 ; owl:annotatedTarget "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9283 ; owl:annotatedTarget "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Priapism"^^xsd:string, "url:http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9286 ; owl:annotatedTarget "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050971 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate"^^xsd:string, "url:https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9296 ; owl:annotatedTarget "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9297 ; owl:annotatedTarget "A mouth disease located_in the lip."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050972 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Language_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_93 ; owl:annotatedTarget "A communication disorder that involves the processing of linguistic information."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_930 ; owl:annotatedTarget "An adnexa disease that is located_in the eye socket."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050973 ; owl:annotatedTarget "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9305 ; owl:annotatedTarget "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen."^^xsd:string . [] dc:type obo:ECO_0007641, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15287174"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_931 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9312 ; owl:annotatedTarget "A ethmoid sinusitis which lasts for 12 weeks or more."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphangitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9317 ; owl:annotatedTarget "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cestodes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_933 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6446435"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040075 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050974 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_934 ; owl:annotatedTarget "A disease by infectious agent that results in infection, has_material_basis_in Viruses."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.who.int/diabetes/action_online/basics/en/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Diabetes_mellitus"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9686693"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9351 ; owl:annotatedTarget "A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diabetes"^^xsd:string, "url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9352 ; owl:annotatedTarget "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050975 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/braindiseases.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_936 ; owl:annotatedTarget "A central nervous system disease that is located_in the brain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.aafa.org/display.cfm?id=8&sub=17"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9360 ; owl:annotatedTarget "A chronic asthma that is triggered by factors not attributable to allergies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK526070/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11399724"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9362 ; owl:annotatedTarget "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/DNA_viruses"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_937 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Exophthalmos"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9370 ; owl:annotatedTarget "An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string, "url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html"^^xsd:string, "url:http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9373 ; owl:annotatedTarget "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050976 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis"^^xsd:string, "url:http://www.uveitissociety.org/pages/diseases/fhu.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9375 ; owl:annotatedTarget "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9392 ; owl:annotatedTarget "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions."^^xsd:string . [] dc:type obo:ECO_0007640, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9395 ; owl:annotatedTarget "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9396 ; owl:annotatedTarget "A laryngitis which lasts less than a few days."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epiglottitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9398 ; owl:annotatedTarget "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypopituitarism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9406 ; owl:annotatedTarget "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27828722"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9410 ; owl:annotatedTarget "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.aafa.org/display.cfm?id=8&sub=16"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK526018/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9415 ; owl:annotatedTarget "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Blepharitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9423 ; owl:annotatedTarget "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050977 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Brain_herniation"^^xsd:string, "url:https://en.wikipedia.org/wiki/Intracranial_pressure"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9428 ; owl:annotatedTarget "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22935300,"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9442 ; owl:annotatedTarget "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13005077"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9445 ; owl:annotatedTarget "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cholangitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9446 ; owl:annotatedTarget "A bile duct disease that is an inflammation of the bile duct."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fatty_liver"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9452 ; owl:annotatedTarget "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lipidoses"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9455 ; owl:annotatedTarget "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050978 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_946 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Uterine_cancer"^^xsd:string, "url:http://en.wikipedia.org/wiki/Uterus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9460 ; owl:annotatedTarget "A uterine cancer that is located_in the uterine corpus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050979 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/10993445"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/15763298"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9462 ; owl:annotatedTarget "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otitis_externa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9463 ; owl:annotatedTarget "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15416035"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9590287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9467 ; owl:annotatedTarget "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050980 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Meningitis#Bacterial"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9470 ; owl:annotatedTarget "A meningitis that has_material_basis_in a bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9471 ; owl:annotatedTarget "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pulmonary_embolism"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9477 ; owl:annotatedTarget "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9478 ; owl:annotatedTarget "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Meckel's_diverticulum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9487 ; owl:annotatedTarget "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9498 ; owl:annotatedTarget "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050981 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9500 ; owl:annotatedTarget "A hematopoietic system disease that is located_in white blood cells."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html"^^xsd:string, "url:http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9502 ; owl:annotatedTarget "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9503 ; owl:annotatedTarget "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9504 ; owl:annotatedTarget "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cannabis_%28drug%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9505 ; owl:annotatedTarget "A substance abuse that involves the recurring use of cannabis despite negative consequences."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9506 ; owl:annotatedTarget "A ethmoid sinusitis which lasts for less than 4 weeks."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050982 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9507 ; owl:annotatedTarget "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Plasma_cell_leukemia"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9373/index"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9513 ; owl:annotatedTarget "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/laron-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8488849"^^xsd:string ; a owl:Axiom ; rdfs:comment obo:ECO_0007636 ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9521 ; owl:annotatedTarget "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9531 ; owl:annotatedTarget "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9534 ; owl:annotatedTarget "A pneumothorax in which air enters into the pleural cavity."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemorrhagic_fever"^^xsd:string, "url:http://jama.ama-assn.org/cgi/reprint/287/18/2391"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9535 ; owl:annotatedTarget "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050983 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9537 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615945"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050984 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multiple_myeloma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=411384"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9538 ; owl:annotatedTarget "A myeloid neoplasm that is located_in the plasma cells in bone marrow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9550 ; owl:annotatedTarget "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary/?CdrID=413932"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9551 ; owl:annotatedTarget "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adrenal_gland_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9553 ; owl:annotatedTarget "An endocrine system disease that is located_in the adrenal gland."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615957"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050985 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9562 ; owl:annotatedTarget "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch047/ch047a.html"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9563 ; owl:annotatedTarget "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9577 ; owl:annotatedTarget "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9584 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050986 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in muation in the CCDC88C gene."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9585 ; owl:annotatedTarget "An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Encephalitis"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/encephalitis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9588 ; owl:annotatedTarget "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Calculus_%28medicine%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9590 ; owl:annotatedTarget "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Krukenberg_tumor"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK482284/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29113663"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29489206"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9597 ; owl:annotatedTarget "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fasciitis"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9598 ; owl:annotatedTarget "A connective tissue disease characterized by inflammation located in the fascia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22232354"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050987 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.in.gov/isdh/22420.htm"^^xsd:string, "url:https://www.malacards.org/card/staphyloenterotoxemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_96 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050988 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Vesicoureteral_reflux"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9620 ; owl:annotatedTarget "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Episodic_ataxia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/episodic-ataxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_963 ; owl:annotatedTarget "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12118250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9631 ; owl:annotatedTarget "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Stomatitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9637 ; owl:annotatedTarget "A mouth disease that is characterized by inflammation of the mouth and lips."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/160120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050989 ; owl:annotatedTarget "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf"^^xsd:string, "url:http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9640 ; owl:annotatedTarget "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Babesiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9643 ; owl:annotatedTarget "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nystagmus"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=nystagmus"^^xsd:string, "url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9649 ; owl:annotatedTarget "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK442013/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9655 ; owl:annotatedTarget "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aphthous_stomatitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9663 ; owl:annotatedTarget "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Abruptio_placentae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9667 ; owl:annotatedTarget "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/108500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050990 ; owl:annotatedTarget "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Cataract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9669 ; owl:annotatedTarget "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/9370-emphysema"^^xsd:string, "url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html"^^xsd:string, "url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9675 ; owl:annotatedTarget "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cervical_incompetence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9681 ; owl:annotatedTarget "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/606554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050991 ; owl:annotatedTarget "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Yellow_fever"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs100/en/index.html"^^xsd:string, "url:https://www.cdc.gov/yellowfever/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9682 ; owl:annotatedTarget "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27574633"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9694 ; owl:annotatedTarget "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neonatal_conjunctivitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9699 ; owl:annotatedTarget "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23055945"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9719 ; owl:annotatedTarget "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in CAPN5 on chromosome 11q13.5."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/606552"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050992 ; owl:annotatedTarget "An episodic ataxia that is characterized by vertigo and diplopia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9720 ; owl:annotatedTarget "An eye and adnexa disease that is located in the vitreous of the eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9723 ; owl:annotatedTarget "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9733 ; owl:annotatedTarget "An urogenital tuberculosis that results_in formation of granulomas located_in kidney."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9735 ; owl:annotatedTarget "A blue drum syndrome caused by an allergen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7400667"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040076 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger phthalyl group."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613855"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050993 ; owl:annotatedTarget "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9736 ; owl:annotatedTarget "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9739 ; owl:annotatedTarget "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Category:Upper_respiratory_tract_diseases"^^xsd:string, "url:http://www.who.int/topics/respiratory_tract_diseases/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_974 ; owl:annotatedTarget "A respiratory system disease which involves the upper respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/612656"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050994 ; owl:annotatedTarget "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Varicose_veins"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9742 ; owl:annotatedTarget "A varicose veins that is located_in the pelvis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diabetes"^^xsd:string, "url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9744 ; owl:annotatedTarget "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemorrhoid"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/hemorrhoids.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19725283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9746 ; owl:annotatedTarget "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9749 ; owl:annotatedTarget "A hemorrhoid that is located_in the rectum."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9765 ; owl:annotatedTarget "Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9773 ; owl:annotatedTarget "A female breast cancer that is located_in the upper-outer quadrant of the breast."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/611907"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050995 ; owl:annotatedTarget "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/ibs/"^^xsd:string, "url:http://en.wikipedia.org/wiki/Irritable_bowel_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9778 ; owl:annotatedTarget "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9784 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9786 ; owl:annotatedTarget "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616055"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050996 ; owl:annotatedTarget "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9790 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9801 ; owl:annotatedTarget "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/20013929"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9804 ; owl:annotatedTarget "A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9808 ; owl:annotatedTarget "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9809 ; owl:annotatedTarget "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28013290/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1874/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050997 ; owl:annotatedTarget "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polyarteritis_nodosa"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9810 ; owl:annotatedTarget "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9828 ; owl:annotatedTarget "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9840 ; owl:annotatedTarget "A strabismus that is characterized the eye which turns inward toward the nose."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9849 ; owl:annotatedTarget "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9856 ; owl:annotatedTarget "A syphilis that results_in a multisystem infection in the fetus via the placenta."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Interstitial_keratitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9857 ; owl:annotatedTarget "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614756"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050998 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alopecia_areata"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_986 ; owl:annotatedTarget "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Disseminated_tuberculosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9861 ; owl:annotatedTarget "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alopecia"^^xsd:string, "url:http://www.omim.org/entry/109200?search=109200&highlight=109200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_987 ; owl:annotatedTarget "A hypotrichosis that is characterized by a loss of hair from the head or body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Galactosemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9870 ; owl:annotatedTarget "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mitral_valve_prolapse"^^xsd:string, "url:http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse"^^xsd:string, "url:http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_988 ; owl:annotatedTarget "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613728"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050999 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9880 ; owl:annotatedTarget "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19461958"^^xsd:string, "url:https://www.omim.org/entry/300376"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9883 ; owl:annotatedTarget "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Muscular_dystrophy"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/md/md.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9884 ; owl:annotatedTarget "A myopathy is characterized by progressive skeletal muscle weakness degeneration."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22368629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_990 ; owl:annotatedTarget "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chalazion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9903 ; owl:annotatedTarget "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hordeolum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9909 ; owl:annotatedTarget "Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Corneal_ulcer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9910 ; owl:annotatedTarget "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm"^^xsd:string, "url:http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php"^^xsd:string, "url:http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_992 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9923 ; owl:annotatedTarget "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Flavivirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_993 ; owl:annotatedTarget "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9931 ; owl:annotatedTarget "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6856241"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9935 ; owl:annotatedTarget "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9938 ; owl:annotatedTarget "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9946 ; owl:annotatedTarget "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=46332"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9952 ; owl:annotatedTarget "A acute leukemia that is characterized by over production of lymphoblasts."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29021517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9953 ; owl:annotatedTarget "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1"^^xsd:string, "url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9955 ; owl:annotatedTarget "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Periostitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9957 ; owl:annotatedTarget "A connective tissue disease characterized by inflammation located_in the periosteum of the bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hematometra"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9958 ; owl:annotatedTarget "A uterine disease that is characterized by the presence of blood in the uterine cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Toxoplasmosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9965 ; owl:annotatedTarget "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK534878/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9969 ; owl:annotatedTarget "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Uterine_inversion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_997 ; owl:annotatedTarget "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Obesity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9970 ; owl:annotatedTarget "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9971 ; owl:annotatedTarget "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D."^^xsd:string . [] dc:type obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005"^^xsd:string, "url:https://medlineplus.gov/ency/article/000350.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9972 ; owl:annotatedTarget "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Drug_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9973 ; owl:annotatedTarget "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Drug_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9974 ; owl:annotatedTarget "A substance dependence that involves the continued use of drugs despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cocaine_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9975 ; owl:annotatedTarget "A drug dependence that is a psychological dependency on the regular use of cocaine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opioid_dependence"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9976 ; owl:annotatedTarget "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hallucinogenic_drugs"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9977 ; owl:annotatedTarget "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_998 ; owl:annotatedTarget "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Orbital_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9986 ; owl:annotatedTarget "An orbital cancer that has _material_basis_in some lymphocyte."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9987 ; owl:annotatedTarget "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis"^^xsd:string, "url:http://en.wikipedia.org/wiki/Infective_endocarditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060000 ; owl:annotatedTarget "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9988 ; owl:annotatedTarget "A tertiary syphilis that results in infection located in brain or located in spinal cord."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypereosinophilic_syndrome"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_999 ; owl:annotatedTarget "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9993 ; owl:annotatedTarget "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30575651/"^^xsd:string, "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_9997 ; owl:annotatedTarget "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:IAO_0000231 ; owl:annotatedTarget "Has obsolescence reason."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2000/01/rdf-schema#seeAlso"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource rdfs:seeAlso ; owl:annotatedTarget "See also."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#backwardCompatibleWith"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:backwardCompatibleWith ; owl:annotatedTarget "Backward compatible with."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#incompatibleWith"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:incompatibleWith ; owl:annotatedTarget "Incompatible with."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#priorVersion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:priorVersion ; owl:annotatedTarget "Prior version."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#versionInfo"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:versionInfo ; owl:annotatedTarget "Version info."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0060160 obo:DOID_0060161 obo:DOID_0111064 obo:DOID_0111065 obo:DOID_4873 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0060376 obo:DOID_0110980 obo:DOID_0110981 obo:DOID_0110982 obo:DOID_0110983 obo:DOID_0110984 obo:DOID_0110985 obo:DOID_0110986 obo:DOID_0110987 obo:DOID_0110988 obo:DOID_0110989 obo:DOID_0110990 obo:DOID_0110991 obo:DOID_0110992 obo:DOID_0110993 obo:DOID_0110994 obo:DOID_0110995 obo:DOID_0110996 obo:DOID_0110997 obo:DOID_0110998 obo:DOID_0110999 obo:DOID_0111000 obo:DOID_0111001 obo:DOID_0111002 obo:DOID_0111003 obo:DOID_0111004 ) . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Withdrawal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060001 ; owl:annotatedTarget "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060002 ; owl:annotatedTarget "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040077 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger alcuronium bromide."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060004 ; owl:annotatedTarget "An autoimmune hypersensitivity disease located_in the central nervous system."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0060534 obo:DOID_0080202 obo:DOID_3030 obo:DOID_3111 obo:DOID_3112 obo:DOID_3493 obo:DOID_4024 obo:DOID_4468 obo:DOID_4917 obo:DOID_4929 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0060691 obo:DOID_0060692 obo:DOID_0111044 obo:DOID_0111045 obo:DOID_0111046 obo:DOID_0111047 obo:DOID_0111048 obo:DOID_0111049 obo:DOID_0111050 obo:DOID_0111051 obo:DOID_0111052 obo:DOID_12259 obo:DOID_12531 obo:DOID_2211 obo:DOID_2215 obo:DOID_2216 obo:DOID_2217 obo:DOID_2219 obo:DOID_2222 obo:DOID_2236 obo:DOID_3755 obo:DOID_3756 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0110926 obo:DOID_0110927 obo:DOID_0110928 obo:DOID_0110929 obo:DOID_0110930 obo:DOID_0110931 obo:DOID_0110932 obo:DOID_0110933 obo:DOID_0110934 obo:DOID_0110935 obo:DOID_0110936 ) . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060005 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0110937 obo:DOID_0110938 obo:DOID_0110939 obo:DOID_0110940 obo:DOID_0110941 obo:DOID_0110942 obo:DOID_0110943 obo:DOID_0110944 obo:DOID_0110945 obo:DOID_0110946 ) . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/DCLRE1C"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060006 ; owl:annotatedTarget "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0110947 obo:DOID_0110948 obo:DOID_0110949 obo:DOID_0110950 obo:DOID_0110951 obo:DOID_0110952 obo:DOID_0110953 obo:DOID_0110954 obo:DOID_0110955 obo:DOID_0110956 ) . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060007 ; owl:annotatedTarget "A severe combined immunodeficiency that affects the development and function of T cells."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0110957 obo:DOID_0110958 obo:DOID_0110959 obo:DOID_0110960 obo:DOID_0110961 ) . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060008 ; owl:annotatedTarget "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111005 obo:DOID_0111006 obo:DOID_0111007 obo:DOID_0111008 obo:DOID_0111009 obo:DOID_0111010 obo:DOID_0111011 obo:DOID_0111012 obo:DOID_0111013 obo:DOID_0111014 obo:DOID_0111015 obo:DOID_0111016 obo:DOID_0111017 obo:DOID_0111018 obo:DOID_0111019 obo:DOID_0111020 obo:DOID_0111021 obo:DOID_0111022 obo:DOID_0111023 obo:DOID_0111024 obo:DOID_0111025 obo:DOID_0111026 ) . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25001848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060009 ; owl:annotatedTarget "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:IAO_0000700 ; owl:annotatedTarget "Has ontology root term."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0020000" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:id ; owl:annotatedTarget "An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111037 obo:DOID_0111038 obo:DOID_0111039 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111040 obo:DOID_0111041 obo:DOID_0111042 obo:DOID_0111043 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111066 obo:DOID_0111067 obo:DOID_0111068 obo:DOID_0111069 obo:DOID_0111070 obo:DOID_0111071 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111074 obo:DOID_0111075 obo:DOID_0111076 ) . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Omenn_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11213808"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14328107"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060010 ; owl:annotatedTarget "A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111080 obo:DOID_0111081 obo:DOID_0111082 obo:DOID_0111083 obo:DOID_0111084 obo:DOID_0111085 obo:DOID_0111086 obo:DOID_0111087 obo:DOID_0111088 obo:DOID_0111089 obo:DOID_0111090 obo:DOID_0111091 obo:DOID_0111092 obo:DOID_0111093 obo:DOID_0111094 obo:DOID_0111095 obo:DOID_0111096 obo:DOID_0111097 obo:DOID_0111098 ) . [] oboInOwl:hasDbXref "url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060011 ; owl:annotatedTarget "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060012 ; owl:annotatedTarget "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111099 obo:DOID_0111100 obo:DOID_0111101 obo:DOID_0111102 obo:DOID_0111103 obo:DOID_0111104 obo:DOID_0111105 obo:DOID_0111106 obo:DOID_0111107 obo:DOID_0111108 obo:DOID_0111109 obo:DOID_0111110 obo:DOID_0111111 ) . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111112 obo:DOID_0111113 obo:DOID_0111114 obo:DOID_0111115 obo:DOID_0111116 obo:DOID_0111117 obo:DOID_0111118 obo:DOID_0111119 obo:DOID_0111120 obo:DOID_0111121 obo:DOID_0111122 obo:DOID_0111123 obo:DOID_0111124 obo:DOID_0111125 obo:DOID_0111126 obo:DOID_0111127 ) . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060013 ; owl:annotatedTarget "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29366662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060014 ; owl:annotatedTarget "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111128 obo:DOID_0111129 obo:DOID_0111130 obo:DOID_0111131 obo:DOID_0111132 obo:DOID_0111133 obo:DOID_0111134 ) . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15661025"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060015 ; owl:annotatedTarget "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."^^xsd:string . [] a owl:AllDisjointClasses ; owl:members (obo:DOID_0111135 obo:DOID_0111136 obo:DOID_0111137 obo:DOID_0111138 ) . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15640687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060016 ; owl:annotatedTarget "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040078 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger gallamine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060017 ; owl:annotatedTarget "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060018 ; owl:annotatedTarget "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060019 ; owl:annotatedTarget "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/gene/204?"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060020 ; owl:annotatedTarget "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/606593"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/gene/3981"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060021 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30681380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060022 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11675497"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060023 ; owl:annotatedTarget "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/gene/3543?"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060024 ; owl:annotatedTarget "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/gene/973?"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060025 ; owl:annotatedTarget "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17008874"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040079 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060026 ; owl:annotatedTarget "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10583958"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060027 ; owl:annotatedTarget "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Good_syndrome"^^xsd:string, "url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102047/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060028 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060029 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060030 ; owl:annotatedTarget "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060031 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19804438"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040080 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger patent blue V."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060032 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060033 ; owl:annotatedTarget "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diseases#Disorder"^^xsd:string, "url:http://www.medilexicon.com/medicaldictionary.php?t=25959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060035 ; owl:annotatedTarget "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060036 ; owl:annotatedTarget "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Developmental_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060037 ; owl:annotatedTarget "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Specific_developmental_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060038 ; owl:annotatedTarget "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6643876"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040081 ; owl:annotatedTarget "A respiratory allergy that has_allergic_trigger acid anhydride."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060039 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.ninds.nih.gov/Disorders/All-Disorders/Pervasive-Developmental-Disorders-Information-Page"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060040 ; owl:annotatedTarget "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder"^^xsd:string, "url:http://www.neurodevnet.ca"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060041 ; owl:annotatedTarget "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://counsellingresource.com/distress/autistic/autism-atypical.html"^^xsd:string, "url:http://www.wisegeek.com/what-is-atypical-autism.htm"^^xsd:string, "url:https://kidsbrainhealth.ca"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060042 ; owl:annotatedTarget "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060043 ; owl:annotatedTarget "A disease of mental health that involves the impairment in normal sexual functioning."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Paraphilia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060044 ; owl:annotatedTarget "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Munchausen_by_proxy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060045 ; owl:annotatedTarget "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aphasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060046 ; owl:annotatedTarget "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060047 ; owl:annotatedTarget "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nosophobia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060048 ; owl:annotatedTarget "A specific phobia that involves an irrational fear of contracting a disease."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060049 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3932500"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040082 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger oxirane."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060050 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string ; a owl:Axiom ; rdfs:comment "ls:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060051 ; owl:annotatedTarget "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system."^^xsd:string . [] oboInOwl:hasDbXref "ls:IEDB"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060052 ; owl:annotatedTarget "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sensory_neuropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060053 ; owl:annotatedTarget "A neuropathy that is located_in nerves of the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Autonomic_neuropathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060054 ; owl:annotatedTarget "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#inSubset"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:inSubset ; owl:annotatedTarget "In subset."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2352260"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4384166"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060055 ; owl:annotatedTarget "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypersensitivity"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK27136/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060056 ; owl:annotatedTarget "An immune system disease that has_material_basis_in abnormal immune responses."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060057 ; owl:annotatedTarget "A food allergy to wheat that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphoma"^^xsd:string, "url:http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/lymphoma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060058 ; owl:annotatedTarget "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16831205"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040083 ; owl:annotatedTarget "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45148"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060060 ; owl:annotatedTarget "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060061 ; owl:annotatedTarget "A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21060763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060062 ; owl:annotatedTarget "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060063 ; owl:annotatedTarget "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060064 ; owl:annotatedTarget "A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060065 ; owl:annotatedTarget "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060066 ; owl:annotatedTarget "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pearson_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060067 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Marantic_endocarditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060068 ; owl:annotatedTarget "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060071 ; owl:annotatedTarget "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_neoplasm"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/benigntumors.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060072 ; owl:annotatedTarget "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lymphatic_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060073 ; owl:annotatedTarget "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26396191"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040084 ; owl:annotatedTarget "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://www.breastcancer.org/symptoms/types/dcis"^^xsd:string, "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060074 ; owl:annotatedTarget "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060075 ; owl:annotatedTarget "A breast cancer that is characterized by the presence of estrogen receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060076 ; owl:annotatedTarget "A breast cancer that is characterized by the absence of estrogen receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060077 ; owl:annotatedTarget "A breast cancer that is characterized by the presence of progesterone receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060078 ; owl:annotatedTarget "A breast cancer that is characterized by the absence of progesterone receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string, "url:https://www.sciencedirect.com/science/article/pii/S1470204511703369"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060079 ; owl:annotatedTarget "A breast cancer that is characterized by the presence of Her2 receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25682076"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060080 ; owl:annotatedTarget "A breast cancer that is characterized by the absence of Her2 receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22826413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060081 ; owl:annotatedTarget "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20421654"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040085 ; owl:annotatedTarget "A bacterial infectious disease has_material_basis_in Bacteria."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060082 ; owl:annotatedTarget "A thoracic benign neoplasm that is characterized by lack of malignancy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Immune_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060083 ; owl:annotatedTarget "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060084 ; owl:annotatedTarget "A benign neoplasm that is classified by the type of cell or tissue from which it is derived."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060085 ; owl:annotatedTarget "A benign neoplasm that is classified by the organ system from which it is arising from."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060086 ; owl:annotatedTarget "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK9556/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060087 ; owl:annotatedTarget "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bartholin%27s_gland"^^xsd:string, "url:https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060088 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the vestibular gland."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16537617"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040086 ; owl:annotatedTarget "A viral infectious disease has_material_basis_in BK polyomavirus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060089 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060090 ; owl:annotatedTarget "A nervous system benign neoplasm that is characterized by lack of malignancy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060091 ; owl:annotatedTarget "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Immune_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060092 ; owl:annotatedTarget "An organ system benign neoplasm located_in the immune system organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7693874"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040087 ; owl:annotatedTarget "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bone_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060094 ; owl:annotatedTarget "A connective tissue benign neoplasm that is located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Uterine_fibroid"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060095 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the uterus."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#saved-by"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:saved-by ; owl:annotatedTarget "Saved by."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060096 ; owl:annotatedTarget "A nervous system benign neoplasm that is located_in a sensory organ."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060097 ; owl:annotatedTarget "An organ system benign neoplam that is located_in the thoracic cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Osteoblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060098 ; owl:annotatedTarget "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12938234"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040088 ; owl:annotatedTarget "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Musculoskeletal_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060099 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in the muscular and skeletal organs."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060100 ; owl:annotatedTarget "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060101 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in glial cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cartilage_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060102 ; owl:annotatedTarget "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465"^^xsd:string, "url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060103 ; owl:annotatedTarget "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060104 ; owl:annotatedTarget "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7516573"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040089 ; owl:annotatedTarget "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Meningioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060106 ; owl:annotatedTarget "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma"^^xsd:string, "url:http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060108 ; owl:annotatedTarget "A brain cancer that has_material_basis_in glial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25220103"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060109 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the vulva."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8400047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060110 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the cervix."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.glowm.com/section_view/item/8"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060111 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12645953"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040090 ; owl:annotatedTarget "An autoimmune disease of gastrointestinal tract that is located_in the stomach."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24992780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060112 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the ovary."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.glowm.com/section_view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060114 ; owl:annotatedTarget "A female reproductive organ benign neoplasm that is located_in the vagina."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060115 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060116 ; owl:annotatedTarget "A nervous system cancer that is located in the sensory system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19940298"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040091 ; owl:annotatedTarget "An autoimmune disease of endocrine system that is located_in the pancreas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Peritoneal"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060117 ; owl:annotatedTarget "An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060118 ; owl:annotatedTarget "A disease of anatomical entity that is located_in the thoracic cavity."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pharynx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060119 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the pharynx."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060121 ; owl:annotatedTarget "An organ system benign neoplasm located_in the integumentary system organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7541736"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040092 ; owl:annotatedTarget "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060122 ; owl:annotatedTarget "An organ system cancer that is located_in the skin, hair and nails."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060123 ; owl:annotatedTarget "A musculoskeletal system benign neoplasm that is located_in connective tissue."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2000/01/rdf-schema#comment"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource rdfs:comment ; owl:annotatedTarget "Comment."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060125 ; owl:annotatedTarget "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060126 ; owl:annotatedTarget "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060127 ; owl:annotatedTarget "A heavy chain disease that results from an overproduction of gamma antibody (IgG)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060128 ; owl:annotatedTarget "A heavy chain disease that results from an overproduction of mu antibody (IgM)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060129 ; owl:annotatedTarget "A heavy chain disease that results from an overproduction of delta antibody (IgD)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060130 ; owl:annotatedTarget "An agnosia that is a loss of motion perception."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060131 ; owl:annotatedTarget "An agnosia that is a deficiency in understanding, processing, or describing emotions."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060132 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060133 ; owl:annotatedTarget "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060134 ; owl:annotatedTarget "An agnosia that is a loss of the ability to distinguish visual shapes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060135 ; owl:annotatedTarget "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060136 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060137 ; owl:annotatedTarget "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060138 ; owl:annotatedTarget "An agnosia that is a loss of the ability to orient parts of the body."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060139 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060140 ; owl:annotatedTarget "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060141 ; owl:annotatedTarget "An agnosia that is a loss of the ability to distinguish the fingers on the hand."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060142 ; owl:annotatedTarget "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060143 ; owl:annotatedTarget "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060144 ; owl:annotatedTarget "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060145 ; owl:annotatedTarget "An agnosia that is a loss of the ability to perceive and process pain."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060146 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize familiar voices."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060147 ; owl:annotatedTarget "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060148 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060149 ; owl:annotatedTarget "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060150 ; owl:annotatedTarget "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060151 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognize or identify objects by touch alone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060152 ; owl:annotatedTarget "An agnosia that is a loss of the ability to comprehend the succession and duration of events."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060153 ; owl:annotatedTarget "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060154 ; owl:annotatedTarget "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060155 ; owl:annotatedTarget "An agnosia that is a loss of the ability to visually recognize objects."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agnosia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060156 ; owl:annotatedTarget "An agnosia that is a loss of the ability to comprehending the meaning of written words."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alopecia_areata"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060157 ; owl:annotatedTarget "An alopecia areata that involves diffuse loss of hair over the whole scalp."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/mesh/68008659"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060158 ; owl:annotatedTarget "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060159 ; owl:annotatedTarget "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060160 ; owl:annotatedTarget "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kennedy_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060161 ; owl:annotatedTarget "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060162 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060163 ; owl:annotatedTarget "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pain_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060164 ; owl:annotatedTarget "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060165 ; owl:annotatedTarget "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bipolar_II"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060166 ; owl:annotatedTarget "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060167 ; owl:annotatedTarget "A mental depression that involves presentation of depressive symptoms only during a specific season of the year."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Histidinemia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/histidinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060168 ; owl:annotatedTarget "A histidine metabolism disease characterized by a deficiency of the enzyme histidase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12503648"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060169 ; owl:annotatedTarget "An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22011963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060170 ; owl:annotatedTarget "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1378852"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040093 ; owl:annotatedTarget "A lupus erythematosus caused by chronic use of certain drugs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27986418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060172 ; owl:annotatedTarget "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1403/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/timothy-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15863612"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060173 ; owl:annotatedTarget "A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060174 ; owl:annotatedTarget "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060175 ; owl:annotatedTarget "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12891648"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060176 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carnosinemia"^^xsd:string, "url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060177 ; owl:annotatedTarget "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060178 ; owl:annotatedTarget "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060179 ; owl:annotatedTarget "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Colitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060180 ; owl:annotatedTarget "An inflammatory bowel disease that involves inflammation located_in colon."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ischemic_colitis"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060181 ; owl:annotatedTarget "A colitis caused_by inadequate blood supply to the colon."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx"^^xsd:string, "url:http://en.wikipedia.org/wiki/Microscopic_colitis"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060182 ; owl:annotatedTarget "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx"^^xsd:string, "url:http://en.wikipedia.org/wiki/Collagenous_colitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060183 ; owl:annotatedTarget "A colitis characterized by a distinctive thickening of the subepithelial collagen table."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8809141"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040094 ; owl:annotatedTarget "An autoimmune disease of urogenital tract that is located_in the renal glomerulus."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx"^^xsd:string, "url:http://en.wikipedia.org/wiki/Lymphocytic_colitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060184 ; owl:annotatedTarget "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060185 ; owl:annotatedTarget "A colitis characterized by an overgrowth of Clostridium difficile bacteria."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chemical_colitis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18209577"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060186 ; owl:annotatedTarget "A colitis caused_by introduction of various chemicals."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diversion_colitis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1916483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060187 ; owl:annotatedTarget "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string, "url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15973125"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060188 ; owl:annotatedTarget "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ileitis"^^xsd:string, "url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060189 ; owl:annotatedTarget "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060190 ; owl:annotatedTarget "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string, "url:http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx"^^xsd:string, "url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12769447"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060191 ; owl:annotatedTarget "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string, "url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060192 ; owl:annotatedTarget "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10762456"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040095 ; owl:annotatedTarget "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060193 ; owl:annotatedTarget "The most common type of familial ALS that has_material_basis_in mutation in the SOD1 gene on chromosome 21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/205100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060194 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/606640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060195 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18."^^xsd:string . [] oboInOwl:hasDbXref "OMIM:606640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_0060195 ; owl:annotatedTarget "ALS3"^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/602433"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060196 ; owl:annotatedTarget "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/602099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060197 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/608030"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060198 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/608031"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060199 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/611895"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060200 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/612069"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060201 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2000/01/rdf-schema#isDefinedBy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource rdfs:isDefinedBy ; owl:annotatedTarget "Is defined by."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/612577"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060202 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/613435"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060203 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/183090"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060204 ; owl:annotatedTarget "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/613954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060205 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/300857"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060206 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/614373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060207 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9."^^xsd:string . [] oboInOwl:hasDbXref "OMIM:614373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasRelatedSynonym ; owl:annotatedSource obo:DOID_0060207 ; owl:annotatedTarget "amyotrophic lateral sclerosis 16, juvenile"^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060208 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/614808"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060209 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/615515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060210 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17097662"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040096 ; owl:annotatedTarget "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string, "url:http://omim.org/entry/615426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060211 ; owl:annotatedTarget "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/606070"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060212 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/105550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060213 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615911"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24934289"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060214 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32140322/"^^xsd:string, "url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060215 ; owl:annotatedTarget "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cogan_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060216 ; owl:annotatedTarget "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060217 ; owl:annotatedTarget "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/CREST_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060218 ; owl:annotatedTarget "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060219 ; owl:annotatedTarget "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Physical_urticaria"^^xsd:string, "url:http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060220 ; owl:annotatedTarget "An urticaria induced by external physical influences."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Maffucci_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060221 ; owl:annotatedTarget "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Scheie_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060222 ; owl:annotatedTarget "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Agraphia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21507544"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060223 ; owl:annotatedTarget "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Atrial_fibrillation"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014"^^xsd:string, "url:http://www.nhlbi.nih.gov/health/health-topics/topics/af"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060224 ; owl:annotatedTarget "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16096999"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060225 ; owl:annotatedTarget "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2986457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060226 ; owl:annotatedTarget "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23549081"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040097 ; owl:annotatedTarget "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18000904"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060227 ; owl:annotatedTarget "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms"^^xsd:string, "url:http://radiopaedia.org/articles/saccular-cerebral-aneurysm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060228 ; owl:annotatedTarget "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060229 ; owl:annotatedTarget "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060230 ; owl:annotatedTarget "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bruck_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9129737"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060231 ; owl:annotatedTarget "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22901925"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060232 ; owl:annotatedTarget "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060233 ; owl:annotatedTarget "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carpenter_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060234 ; owl:annotatedTarget "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060235 ; owl:annotatedTarget "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Xanthinuria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4369449"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060236 ; owl:annotatedTarget "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Micro_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22768674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060237 ; owl:annotatedTarget "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1633641"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060238 ; owl:annotatedTarget "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060239 ; owl:annotatedTarget "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060240 ; owl:annotatedTarget "A skin disease characterized by photosensitivity and liver spots (solar lentigines)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16552711"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040098 ; owl:annotatedTarget "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/3-M_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/3-m-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060241 ; owl:annotatedTarget "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Synpolydactyly"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18177473"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8817328"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060242 ; owl:annotatedTarget "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stuttering"^^xsd:string, "url:http://www.asha.org/public/speech/disorders/stuttering.htm"^^xsd:string, "url:http://www.merriam-webster.com/dictionary/stutter"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060243 ; owl:annotatedTarget "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Specific_language_impairment"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19646677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060244 ; owl:annotatedTarget "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/gene/SPG21"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6024251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060245 ; owl:annotatedTarget "A hereditary spastic paraplegia associated with dementia."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/MASA_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/l1-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060246 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1216821"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060247 ; owl:annotatedTarget "A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10925314"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040099 ; owl:annotatedTarget "A vasculitis with purpuric ulcers."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060248 ; owl:annotatedTarget "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string, "url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060249 ; owl:annotatedTarget "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060250 ; owl:annotatedTarget "A scoliosis with no known cause."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11836356"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060251 ; owl:annotatedTarget "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sclerocornea"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3994576"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060252 ; owl:annotatedTarget "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28179901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060253 ; owl:annotatedTarget "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Robinow_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/robinow-syndrome"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060254 ; owl:annotatedTarget "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10445096"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040100 ; owl:annotatedTarget "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9537420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060255 ; owl:annotatedTarget "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060256 ; owl:annotatedTarget "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria"^^xsd:string, "url:http://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22974014"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060257 ; owl:annotatedTarget "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22808308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060258 ; owl:annotatedTarget "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17605805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060259 ; owl:annotatedTarget "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060260 ; owl:annotatedTarget "An eye disease characterized by the drooping or falling of the upper or lower eyelid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string, "url:https://eyewiki.aao.org/Ptosis,_Congenital"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060261 ; owl:annotatedTarget "A ptosis characterized by eyelid drop present at birth."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Gallbladder_disease"^^xsd:string, "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060262 ; owl:annotatedTarget "A gastrointestinal system disease that is located_in the gallbladder."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebral_softening"^^xsd:string, "url:https://en.wikipedia.org/wiki/Porencephaly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060263 ; owl:annotatedTarget "A brain disease that is characterized by encephalomalacia and cystic brain lesions."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060264 ; owl:annotatedTarget "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/607596"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060265 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in mutation in the VRK1 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614678"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060266 ; owl:annotatedTarget "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/277470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060267 ; owl:annotatedTarget "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/612389"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060268 ; owl:annotatedTarget "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28295200"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040101 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/612390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060269 ; owl:annotatedTarget "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613811"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060270 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615851"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060271 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/608027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060272 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/225753"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060273 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/610204"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060274 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/611523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060275 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060276 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060277 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615809"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060278 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2000/01/rdf-schema#label", "url:https://www.w3.org/TR/owl-guide/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource rdfs:label ; owl:annotatedTarget "A human readable name for this class."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060279 ; owl:annotatedTarget "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2212318"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060280 ; owl:annotatedTarget "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060281 ; owl:annotatedTarget "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060282 ; owl:annotatedTarget "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060283 ; owl:annotatedTarget "A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060284 ; owl:annotatedTarget "An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060285 ; owl:annotatedTarget "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060286 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."^^xsd:string . [] oboInOwl:hasDbXref "url:https://disorders.eyes.arizona.edu/handouts/cornea-plana"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060287 ; owl:annotatedTarget "A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12210345/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060288 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28295200"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040102 ; owl:annotatedTarget "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060289 ; owl:annotatedTarget "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060290 ; owl:annotatedTarget "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia"^^xsd:string, "url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12021949"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060291 ; owl:annotatedTarget "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060292 ; owl:annotatedTarget "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/118650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060293 ; owl:annotatedTarget "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060294 ; owl:annotatedTarget "A syndrome that is characterized by profuse sweating induced by cold ambient temperature."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060295 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "OMIM:214700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060296 ; owl:annotatedTarget "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060297 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614379"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060298 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/612446"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060299 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/610102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060300 ; owl:annotatedTarget "A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28543395"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040103 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger cefotiam."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060301 ; owl:annotatedTarget "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060302 ; owl:annotatedTarget "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613825"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060303 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12372090"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060304 ; owl:annotatedTarget "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Megalocornea"^^xsd:string, "url:http://ghr.nlm.nih.gov/gene/CHRDL1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6849653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060305 ; owl:annotatedTarget "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14564153"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060306 ; owl:annotatedTarget "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21124998"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060307 ; owl:annotatedTarget "A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21124998"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060308 ; owl:annotatedTarget "A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060309 ; owl:annotatedTarget "A syndromic intellectual characterized by an X-linked inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8285973"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060310 ; owl:annotatedTarget "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy"^^xsd:string, "url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21126775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060311 ; owl:annotatedTarget "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Angular_cheilitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060312 ; owl:annotatedTarget "A cheilitis characterized by inflammation of one or both of the corners of the mouth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tracheomalacia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060313 ; owl:annotatedTarget "A tracheal disease characterized by flaccidity of the tracheal support cartilage."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060314 ; owl:annotatedTarget "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040104 ; owl:annotatedTarget "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hairy_leukoplakia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060315 ; owl:annotatedTarget "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060316 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lung_abscess"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060317 ; owl:annotatedTarget "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060318 ; owl:annotatedTarget "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cardiac_arrest"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060319 ; owl:annotatedTarget "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Inguinal_hernia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060320 ; owl:annotatedTarget "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630"^^xsd:string, "url:https://en.wikipedia.org/wiki/Umbilical_hernia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060321 ; owl:annotatedTarget "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050004 ; owl:annotatedTarget "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mastoiditis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060322 ; owl:annotatedTarget "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060323 ; owl:annotatedTarget "A breast disease characterized by a collection of pus in the breast."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dental_abscess"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060324 ; owl:annotatedTarget "A tooth disease characterized by a localized collection of pus associated with a tooth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cervical_polyp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060325 ; owl:annotatedTarget "A cervix disease characterized by a benign polyp on the surface of the cervical canal."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060326 ; owl:annotatedTarget "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Omphalocele"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060327 ; owl:annotatedTarget "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anal_fistula"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060328 ; owl:annotatedTarget "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ectopic_pregnancy"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060329 ; owl:annotatedTarget "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm"^^xsd:string, "url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050009 ; owl:annotatedTarget "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060330 ; owl:annotatedTarget "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614052"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060331 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060332 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060333 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17349054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060334 ; owl:annotatedTarget "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050010 ; owl:annotatedTarget "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sideroblastic_anemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060335 ; owl:annotatedTarget "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060336 ; owl:annotatedTarget "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21073448"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060337 ; owl:annotatedTarget "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10717216"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23021437"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060338 ; owl:annotatedTarget "An embryonal rhabdomyosarcoma located in the parameningeal region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25282101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060339 ; owl:annotatedTarget "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ciliopathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18178628"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21210154"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060340 ; owl:annotatedTarget "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17438667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060341 ; owl:annotatedTarget "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15264282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060342 ; owl:annotatedTarget "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050011 ; owl:annotatedTarget "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17566815"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22870429"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060343 ; owl:annotatedTarget "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans"^^xsd:string, "url:http://www.dermis.net/dermisroot/en/35111/diagnose.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060344 ; owl:annotatedTarget "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9407154"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060345 ; owl:annotatedTarget "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18553514"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060346 ; owl:annotatedTarget "A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26019842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060347 ; owl:annotatedTarget "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#deprecated"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:deprecated ; owl:annotatedTarget "OWL deprecated."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15645691"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24339556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060348 ; owl:annotatedTarget "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10482868"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11302131"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25124931"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5936364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060349 ; owl:annotatedTarget "A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency"^^xsd:string, "url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22700886/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8864750/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20150536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060350 ; owl:annotatedTarget "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/615157"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21278747"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060351 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chikungunya_virus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050012 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15264279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16826528"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21245904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060352 ; owl:annotatedTarget "Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25913037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060353 ; owl:annotatedTarget "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050013 ; owl:annotatedTarget "An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24619930"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25577287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060354 ; owl:annotatedTarget "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/616208"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060355 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Vici_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21965116"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23222957"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060356 ; owl:annotatedTarget "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10521380"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20920215"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3430059"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3792776"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060357 ; owl:annotatedTarget "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii"^^xsd:string, "url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12815589"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22580358"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060358 ; owl:annotatedTarget "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060359 ; owl:annotatedTarget "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16409913"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060360 ; owl:annotatedTarget "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050014 ; owl:annotatedTarget "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060361 ; owl:annotatedTarget "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060362 ; owl:annotatedTarget "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22427807"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060363 ; owl:annotatedTarget "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26123727/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060364 ; owl:annotatedTarget "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25772936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060365 ; owl:annotatedTarget "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Hennekam_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14564208"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24870712"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2624276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060366 ; owl:annotatedTarget "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628"^^xsd:string, "url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050015 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/168601"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060367 ; owl:annotatedTarget "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060368 ; owl:annotatedTarget "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060369 ; owl:annotatedTarget "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060370 ; owl:annotatedTarget "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060371 ; owl:annotatedTarget "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060372 ; owl:annotatedTarget "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060373 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060374 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23972372"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060375 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23716954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060376 ; owl:annotatedTarget "A Joubert syndrome that is characterized by orofaciodigital defect."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/608518"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060377 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060378 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060379 ; owl:annotatedTarget "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/165590"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060380 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060381 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18000902"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060382 ; owl:annotatedTarget "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060383 ; owl:annotatedTarget "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060384 ; owl:annotatedTarget "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/601829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060385 ; owl:annotatedTarget "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25999228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050025 ; owl:annotatedTarget "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/610448"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060386 ; owl:annotatedTarget "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060387 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome"^^xsd:string, "url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK23758/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060388 ; owl:annotatedTarget "A chromosomal disease that has_material_basis_in partial deletion of chromosomes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21248748"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060389 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060390 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060391 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21744488"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060392 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615656"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060393 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060394 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613406"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060395 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060396 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18651844"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060397 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20808231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060398 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20154674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060399 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19449418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060400 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1605249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060401 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19617690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060402 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10631140/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060403 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#maxQualifiedCardinality"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:maxQualifiedCardinality ; owl:annotatedTarget "Max qualified cardinality."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060404 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20598276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060405 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16691587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060406 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060407 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24243649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060408 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK542336/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060409 ; owl:annotatedTarget "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060410 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/1q211-microdeletion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060411 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736036/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060412 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18179902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060413 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19764038/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060414 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26019277/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060415 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19248183/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060416 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19760623"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060417 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22180640/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060418 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK385289/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060419 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20522426/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060420 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24203977/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060421 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18629875/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060422 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19213033/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060423 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17512813/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060424 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21802062/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060425 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060426 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17089405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060427 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK458647/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060428 ; owl:annotatedTarget "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050026 ; owl:annotatedTarget "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060429 ; owl:annotatedTarget "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/16p112-duplication"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060430 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19833603/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060431 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19136950/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060432 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/17q12-duplication"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK344340/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060433 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19502243/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060434 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/1q211-microduplication"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060435 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/22q112-duplication"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060436 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24153177/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060437 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050032 ; owl:annotatedTarget "An acquired metabolic disease that is characterized by abnormal mineral metabolism."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10842295"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060438 ; owl:annotatedTarget "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1361/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1155480"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060439 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060440 ; owl:annotatedTarget "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060441 ; owl:annotatedTarget "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060442 ; owl:annotatedTarget "A corneal dystrophy that affects the corneal stroma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060443 ; owl:annotatedTarget "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string, "url:https://www.omim.org/entry/607541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060444 ; owl:annotatedTarget "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK2690/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060445 ; owl:annotatedTarget "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16490493/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060446 ; owl:annotatedTarget "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16652336/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060447 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23288988/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26396486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060448 ; owl:annotatedTarget "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10192395/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060449 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11024418/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060450 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060451 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27096414/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060452 ; owl:annotatedTarget "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/608470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060453 ; owl:annotatedTarget "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8352693/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060454 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/602082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060455 ; owl:annotatedTarget "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23169578/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060456 ; owl:annotatedTarget "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060457 ; owl:annotatedTarget "A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20577005/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060458 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060459 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19052029/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060460 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19716111/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060461 ; owl:annotatedTarget "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region."^^xsd:string . [] a owl:Axiom ; rdfs:comment "url:http://www.w3.org/2002/07/owl#minQualifiedCardinality"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:minQualifiedCardinality ; owl:annotatedTarget "Min qualified cardinality."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19853239"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21037275"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060462 ; owl:annotatedTarget "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma"^^xsd:string, "url:https://omim.org/entry/608749"^^xsd:string, "url:https://omim.org/entry/608963"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21221870"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25685583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26378054"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26402248"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060463 ; owl:annotatedTarget "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/feingold-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Feingold_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14518066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16906565"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060464 ; owl:annotatedTarget "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/fibrochondrogenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060465 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11868160"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17385395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060466 ; owl:annotatedTarget "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060467 ; owl:annotatedTarget "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12223419"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12436037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060468 ; owl:annotatedTarget "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050035 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21239872"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9473821"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060469 ; owl:annotatedTarget "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24026681"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060470 ; owl:annotatedTarget "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17090909"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25400349"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060471 ; owl:annotatedTarget "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Kindler_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12668616"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060472 ; owl:annotatedTarget "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Kabuki_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25281733"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25972376"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26512256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060473 ; owl:annotatedTarget "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15725900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060474 ; owl:annotatedTarget "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615369"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23708187"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24207121"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060475 ; owl:annotatedTarget "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Perlman_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18780370"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22306653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060476 ; owl:annotatedTarget "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/zika/en/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Zika_fever"^^xsd:string, "url:https://www.cdc.gov/zika/about/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060478 ; owl:annotatedTarget "A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18356737"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22201042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060479 ; owl:annotatedTarget "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16567565"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060480 ; owl:annotatedTarget "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15883926"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23427148"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060481 ; owl:annotatedTarget "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18423520"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25574057"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060482 ; owl:annotatedTarget "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23423674"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24754424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060483 ; owl:annotatedTarget "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19289823"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19420365"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23471908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060484 ; owl:annotatedTarget "A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17958891"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23466526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060485 ; owl:annotatedTarget "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK47027/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/perry-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060486 ; owl:annotatedTarget "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome"^^xsd:string, "url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17436255"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26621827"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/728011"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060488 ; owl:annotatedTarget "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1376/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10653321"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060490 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15852396"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26385635"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060491 ; owl:annotatedTarget "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001"^^xsd:string, "url:https://en.wikipedia.org/wiki/Egg_allergy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060492 ; owl:annotatedTarget "An egg allergy triggered by Gallus gallus eggs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060495 ; owl:annotatedTarget "A food allergy triggered by Crustacea or Mollusca."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25006500"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28187789"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060496 ; owl:annotatedTarget "An allergic disease that is located_in the respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://acaai.org/allergies/types-allergies/pollen-allergy"^^xsd:string, "url:https://www.aafa.org/pollen-allergy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060497 ; owl:annotatedTarget "A respiratory allergy triggered by pollen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.aaaai.org/conditions-and-treatments/library/allergy-library/grass-allergies"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25685162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060498 ; owl:annotatedTarget "A pollen allergy triggered by Phleum pratense pollen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28601415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060499 ; owl:annotatedTarget "An autoimmune disease of central nervous system caused by an autoimmune response."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060500 ; owl:annotatedTarget "An allergic disease that is triggered by a drug."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27228132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060501 ; owl:annotatedTarget "An allergic disease that is triggered by a metal."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18721321"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060502 ; owl:annotatedTarget "An allergic disease that is located_in the gastrointestinal tract."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26022876"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060503 ; owl:annotatedTarget "A food allergy triggered by a plant fruit product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29130794"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060504 ; owl:annotatedTarget "A fruit allergy triggered by Malus domestica plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30611476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060505 ; owl:annotatedTarget "A fruit allergy triggered by Prunus armeniaca plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050041 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30093847"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060506 ; owl:annotatedTarget "A fruit allergy triggered by Prunus avium plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14976388"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24696647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060507 ; owl:annotatedTarget "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30099793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060508 ; owl:annotatedTarget "A fruit allergy triggered by Citrus sinensis plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060509 ; owl:annotatedTarget "A fruit allergy triggered by Cucumis melo plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30672059"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060510 ; owl:annotatedTarget "A fruit allergy triggered by Prunus persica plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060511 ; owl:annotatedTarget "A fruit allergy triggered by Prunus domestica plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12001794"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23653972"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060512 ; owl:annotatedTarget "A fruit allergy triggered by Solanum lycopersicum plant fruit food product."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060513 ; owl:annotatedTarget "A food allergy triggered by fish."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060514 ; owl:annotatedTarget "A fish allergy triggered by Gadus morhua."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.w3.org/2002/07/owl#qualifiedCardinality"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource owl:qualifiedCardinality ; owl:annotatedTarget "Qualified cardinality."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060515 ; owl:annotatedTarget "A fish allergy triggered by Salmo salar."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060516 ; owl:annotatedTarget "A fish allergy triggered by Cyprinus carpio."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060517 ; owl:annotatedTarget "A fish allergy triggered by Danio rerio."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26111497"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060518 ; owl:annotatedTarget "A fish allergy triggered by Oncorhynchus mykiss."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity"^^xsd:string, "url:https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31009700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060519 ; owl:annotatedTarget "A drug allergy triggered by a beta-lactam."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060520 ; owl:annotatedTarget "A beta-lactam allergy triggered by penicillin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31083388"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060521 ; owl:annotatedTarget "A milk allergy triggered by Bos taurus milk."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17002714"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24372684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060522 ; owl:annotatedTarget "A milk allergy triggered by Capra hircus milk."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060523 ; owl:annotatedTarget "A shellfish allergy triggered by Mollusca."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060524 ; owl:annotatedTarget "A shellfish allergy triggered by Crustacea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060525 ; owl:annotatedTarget "A crustacean allergy triggered by Farfantepenaeus aztecus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050042 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25728640"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060526 ; owl:annotatedTarget "A crustacean allergy triggered by Scylla paramamosain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060527 ; owl:annotatedTarget "A crustacean allergy triggered by Fenneropenaeus indicus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22135598"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29178679"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060528 ; owl:annotatedTarget "A crustacean allergy triggered by Penaeus monodon."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20471069"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060529 ; owl:annotatedTarget "A crustacean allergy triggered by Litopenaeus vannamei."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15591808"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060530 ; owl:annotatedTarget "A mollusc allergy triggered by snails."^^xsd:string . [] oboInOwl:hasDbXref "url:https://farrp.unl.edu/informallmollshellfish"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060531 ; owl:annotatedTarget "A snail allergy triggered by the horned turban snail."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Latex_allergy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27010091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060532 ; owl:annotatedTarget "An allergic disease that is triggered by latex."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060534 ; owl:annotatedTarget "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20137776"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21490908"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23033317"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26089203"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31169992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060535 ; owl:annotatedTarget "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/252010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060536 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23322652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060537 ; owl:annotatedTarget "A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "ORDO:49566"^^xsd:string, "url:https://en.wikipedia.org/wiki/Purpura_fulminans"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26955583"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060538 ; owl:annotatedTarget "A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/203300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060539 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/608233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060540 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060541 ; owl:annotatedTarget "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060542 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614074"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060543 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614075"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060544 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614076"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060545 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614077"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060546 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/614171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060547 ; owl:annotatedTarget "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060548 ; owl:annotatedTarget "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27196381"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060549 ; owl:annotatedTarget "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27196381"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060550 ; owl:annotatedTarget "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20734427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060551 ; owl:annotatedTarget "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15986421"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23791710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060556 ; owl:annotatedTarget "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060557 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050043 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22610851"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060558 ; owl:annotatedTarget "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9683599"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060559 ; owl:annotatedTarget "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15378541"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17701904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060560 ; owl:annotatedTarget "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060561 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060562 ; owl:annotatedTarget "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "OMIM:169100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060563 ; owl:annotatedTarget "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Spinal_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060564 ; owl:annotatedTarget "A bone disease that is located_in the spine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/3C_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060565 ; owl:annotatedTarget "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3232694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060566 ; owl:annotatedTarget "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060567 ; owl:annotatedTarget "A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/cantu-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060569 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28814447/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060570 ; owl:annotatedTarget "A tuberculosis located in the heart."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24065355"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060571 ; owl:annotatedTarget "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24916641"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060572 ; owl:annotatedTarget "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16889557"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8456432"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060573 ; owl:annotatedTarget "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20409624"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060574 ; owl:annotatedTarget "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string, "url:https://www.omim.org/entry/257920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060575 ; owl:annotatedTarget "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string, "url:https://www.omim.org/entry/265050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060576 ; owl:annotatedTarget "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21258343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060577 ; owl:annotatedTarget "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18203203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060578 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5782826"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060580 ; owl:annotatedTarget "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.org/dc/elements/1.1/description" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource dc:description ; owl:annotatedTarget "Description."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.w3.org/2009/08/skos-reference/skos.html#broadMatch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource skos:broadMatch ; owl:annotatedTarget "A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes)."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050046 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16474405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060581 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19438935"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060582 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17603483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060583 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19966803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060584 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19206169"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060585 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24939608"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25124994"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060586 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060587 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060588 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23623387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060589 ; owl:annotatedTarget "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17183314"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060590 ; owl:annotatedTarget "A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/WHIM_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10767001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060591 ; owl:annotatedTarget "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060592 ; owl:annotatedTarget "An adult acute ymphoblastic leukemia occurring in adults and that has_mateiral_basis_in B lymphocytes."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29226717"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060597 ; owl:annotatedTarget "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Nance-Horan_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2246772"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6467651"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060599 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11472338"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/156196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060601 ; owl:annotatedTarget "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11861706"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060602 ; owl:annotatedTarget "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2401610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060603 ; owl:annotatedTarget "An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ankyloglossia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18983637"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5251442"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060604 ; owl:annotatedTarget "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20363831"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060606 ; owl:annotatedTarget "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/210710"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22302400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060608 ; owl:annotatedTarget "A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/210720"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7551160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060609 ; owl:annotatedTarget "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Berdon_syndrome"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21792650"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25407000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060610 ; owl:annotatedTarget "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050047 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17167477/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060611 ; owl:annotatedTarget "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615812"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24827035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060612 ; owl:annotatedTarget "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14729838"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060613 ; owl:annotatedTarget "A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8595424"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8923944"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060614 ; owl:annotatedTarget "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16715098"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060638 ; owl:annotatedTarget "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17213273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060639 ; owl:annotatedTarget "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20528888"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060640 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19185282"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24853502"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060641 ; owl:annotatedTarget "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3307723"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8513326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060642 ; owl:annotatedTarget "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7877651"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060643 ; owl:annotatedTarget "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1342874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060644 ; owl:annotatedTarget "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11973628"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4403064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060645 ; owl:annotatedTarget "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chylothorax"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/416049"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060646 ; owl:annotatedTarget "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20961246"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060647 ; owl:annotatedTarget "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17914436"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30242500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060648 ; owl:annotatedTarget "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16767101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060649 ; owl:annotatedTarget "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18200002/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060650 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myh9-related-disorder"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21567368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060651 ; owl:annotatedTarget "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9292543"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060652 ; owl:annotatedTarget "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17701898"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060653 ; owl:annotatedTarget "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22610851"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060654 ; owl:annotatedTarget "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1420/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20643494"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060655 ; owl:annotatedTarget "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7824952"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060656 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Anencephaly"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/anencephaly"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060668 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://hmg.oxfordjournals.org/content/18/5/919.long"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060669 ; owl:annotatedTarget "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14624391"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060670 ; owl:annotatedTarget "A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050050 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15543491"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060671 ; owl:annotatedTarget "A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16862116"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16983677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060672 ; owl:annotatedTarget "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11403040"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12614756"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8162071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060673 ; owl:annotatedTarget "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1289"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17875969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060674 ; owl:annotatedTarget "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12093772"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17875969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060675 ; owl:annotatedTarget "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.w3.org/2009/08/skos-reference/skos.html#closeMatch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource skos:closeMatch ; owl:annotatedTarget "A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11401939"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060676 ; owl:annotatedTarget "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17666061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060677 ; owl:annotatedTarget "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23040497"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060678 ; owl:annotatedTarget "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22422768"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060679 ; owl:annotatedTarget "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10192392"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3947295"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060680 ; owl:annotatedTarget "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7895015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060681 ; owl:annotatedTarget "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7550350"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060682 ; owl:annotatedTarget "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9758605"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060683 ; owl:annotatedTarget "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11062464"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060684 ; owl:annotatedTarget "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16826524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060685 ; owl:annotatedTarget "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23086396"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060686 ; owl:annotatedTarget "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7193302"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060688 ; owl:annotatedTarget "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10205263"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060689 ; owl:annotatedTarget "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15520414"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20624953"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060690 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18065693"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21454453"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9834222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060691 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11196645"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20966167"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060692 ; owl:annotatedTarget "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8211186"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8503438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060693 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14556008"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8845847"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060694 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050051 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12427512"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1334371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060695 ; owl:annotatedTarget "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7881416"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8298642"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060696 ; owl:annotatedTarget "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11929858"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21391991"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060697 ; owl:annotatedTarget "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16751771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22700964"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060698 ; owl:annotatedTarget "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19809483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060699 ; owl:annotatedTarget "A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7916660"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060700 ; owl:annotatedTarget "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23802516"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060701 ; owl:annotatedTarget "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23222959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060702 ; owl:annotatedTarget "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18000976"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9042914"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060703 ; owl:annotatedTarget "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/198660"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22197273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060704 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6283885"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9771704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060705 ; owl:annotatedTarget "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17080092"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060706 ; owl:annotatedTarget "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19425169"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21109689"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060707 ; owl:annotatedTarget "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22197273"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22801960"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060708 ; owl:annotatedTarget "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11773004"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16116617"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060710 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11398099"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11773004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060711 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10094194"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20672373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060712 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21339420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060713 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10712223"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16436457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060714 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16436457"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17557927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060715 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16117785"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060716 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21439540"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060717 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21093221"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23754960"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060718 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22246504"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060719 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17273967"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18843291"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9450882"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060720 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24651605"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27388694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060728 ; owl:annotatedTarget "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050052 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11912106"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9288096"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060730 ; owl:annotatedTarget "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11840487"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12640453"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8135282"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8696331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060731 ; owl:annotatedTarget "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18452192"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4541805"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6985017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060732 ; owl:annotatedTarget "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16473856"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7545057"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9185503"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060733 ; owl:annotatedTarget "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1369/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1372711"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1717157"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060735 ; owl:annotatedTarget "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11851880"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060736 ; owl:annotatedTarget "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8012393"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8586427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060737 ; owl:annotatedTarget "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10792571"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11810295"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7550320"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7706760"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060738 ; owl:annotatedTarget "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.w3.org/2009/08/skos-reference/skos.html#exactMatch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource skos:exactMatch ; owl:annotatedTarget "A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5450271"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9020844"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060739 ; owl:annotatedTarget "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1975493"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1977311"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060740 ; owl:annotatedTarget "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20524213"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060741 ; owl:annotatedTarget "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12438653"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5686220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060742 ; owl:annotatedTarget "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12471062"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7213387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060743 ; owl:annotatedTarget "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3934300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050059 ; owl:annotatedTarget "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9398842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060744 ; owl:annotatedTarget "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10369267"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11384588"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060745 ; owl:annotatedTarget "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252232"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5448127"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060746 ; owl:annotatedTarget "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12393809"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12843316"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8882787"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060747 ; owl:annotatedTarget "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10851389"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12205652"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15079010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060748 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24021842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060749 ; owl:annotatedTarget "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17377072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060750 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26046367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060751 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21922598"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060752 ; owl:annotatedTarget "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17460155"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18332351"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060753 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25691535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060754 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12011300"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15342703"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060755 ; owl:annotatedTarget "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11179006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060756 ; owl:annotatedTarget "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21471202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060757 ; owl:annotatedTarget "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Erysipeloid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050061 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11007475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060758 ; owl:annotatedTarget "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12958596"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060759 ; owl:annotatedTarget "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12840068"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060760 ; owl:annotatedTarget "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8086739"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060761 ; owl:annotatedTarget "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15317753"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20101687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060762 ; owl:annotatedTarget "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17172462"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9326935"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060763 ; owl:annotatedTarget "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10932186"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10932187"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060764 ; owl:annotatedTarget "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25817014"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26924530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060765 ; owl:annotatedTarget "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19918918"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24716670"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060766 ; owl:annotatedTarget "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26924530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060767 ; owl:annotatedTarget "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1310/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16845274"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21844811"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6745947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060768 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10206641"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8911612"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060769 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11799476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060770 ; owl:annotatedTarget "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14638541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060771 ; owl:annotatedTarget "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17924340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060772 ; owl:annotatedTarget "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3035184"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9758630"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060773 ; owl:annotatedTarget "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22605972"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30894704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060774 ; owl:annotatedTarget "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18724368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060775 ; owl:annotatedTarget "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18572020"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23462293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060776 ; owl:annotatedTarget "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26358773"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060777 ; owl:annotatedTarget "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23114594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060778 ; owl:annotatedTarget "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16855267"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060779 ; owl:annotatedTarget "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22436048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060780 ; owl:annotatedTarget "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19185281"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060781 ; owl:annotatedTarget "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060782 ; owl:annotatedTarget "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10535733"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8737655"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060783 ; owl:annotatedTarget "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.w3.org/2009/08/skos-reference/skos.html#narrowMatch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource skos:narrowMatch ; owl:annotatedTarget "A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1424230"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5454938"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060784 ; owl:annotatedTarget "An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951681"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19151023"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060785 ; owl:annotatedTarget "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Leukodystrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK184570/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060786 ; owl:annotatedTarget "A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15192806"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18094336"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060787 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25865492"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27130255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060788 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18571143"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060789 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21092922"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24958424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060790 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24777941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060791 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26151409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060792 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951682"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17683097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060793 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12605447"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21855841"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060794 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26545878"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060795 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26307567"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27120463"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060796 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22036171"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22036172"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060797 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23582646"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060798 ; owl:annotatedTarget "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050072 ; owl:annotatedTarget "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15689435"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20425814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060799 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19377476"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23756445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060800 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032729"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9781023"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060801 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14508504"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23696453"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060802 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21744492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060803 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1357179"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060804 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1673297"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3121220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060805 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11782983"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15746149"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060806 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19165920"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21954287"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060807 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10573017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060808 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10982473"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15586325"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060809 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10521307"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17236142"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060810 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252223"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7943042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060811 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10398231"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16199551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060812 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10331611"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10797443"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060813 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1746601"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25644381"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060814 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2018061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060815 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14556245"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060816 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26571461"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060817 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10398233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060818 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10398239"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060819 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16909393"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20412111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060820 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17704778"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22957832"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060821 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10978355"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17236139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060822 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17989220"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19449417"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24721225"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060823 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17436253"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19377476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060824 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18342287"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20949524"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25044251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060825 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10677307"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25256757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060826 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10986043"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8651288"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060827 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22814392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060828 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7943044"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060829 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11073537"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060830 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/707528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060831 ; owl:annotatedTarget "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string, "url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050073 ; owl:annotatedTarget "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9207796"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060832 ; owl:annotatedTarget "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/707528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060833 ; owl:annotatedTarget "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12148598"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12897212"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060834 ; owl:annotatedTarget "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15823920"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21397065"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060835 ; owl:annotatedTarget "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19129173"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060836 ; owl:annotatedTarget "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17167404"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18554571"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19753314"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060837 ; owl:annotatedTarget "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/792373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050074 ; owl:annotatedTarget "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19864492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060838 ; owl:annotatedTarget "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15257456"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3378363"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060839 ; owl:annotatedTarget "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9545413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060840 ; owl:annotatedTarget "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23312594"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23591992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060841 ; owl:annotatedTarget "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14662654"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18783408"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060842 ; owl:annotatedTarget "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21."^^xsd:string . [] oboInOwl:hasDbXref "https://www.w3.org/2009/08/skos-reference/skos.html#relatedMatch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource skos:relatedMatch ; owl:annotatedTarget "A skos concept mapping used to state an associative mapping link between two concepts."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Keshan_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050083 ; owl:annotatedTarget "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12682341"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2540008"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8422677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060843 ; owl:annotatedTarget "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1303235"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13998843"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7627181"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060844 ; owl:annotatedTarget "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10713888"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21712857"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9590292"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060847 ; owl:annotatedTarget "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20830798/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18469813"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19752159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060848 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11719191"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20034086"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3955877"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060849 ; owl:annotatedTarget "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1860255"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/677171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060850 ; owl:annotatedTarget "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050084 ; owl:annotatedTarget "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2217197"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4577497"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060851 ; owl:annotatedTarget "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15367484"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15372515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060852 ; owl:annotatedTarget "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10615134"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20425816"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060853 ; owl:annotatedTarget "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10202170"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10404817"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8589714"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060854 ; owl:annotatedTarget "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9662404"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060855 ; owl:annotatedTarget "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14648004"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20413652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060856 ; owl:annotatedTarget "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050085 ; owl:annotatedTarget "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8696006"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9620767"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060857 ; owl:annotatedTarget "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11524703"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16385448"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18234729"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060858 ; owl:annotatedTarget "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/"^^xsd:string, "url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm"^^xsd:string, "url:http://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050086 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/salmonella/general/index.html"^^xsd:string, "url:https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060859 ; owl:annotatedTarget "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21194678"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6846395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060861 ; owl:annotatedTarget "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11285253"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9887370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060862 ; owl:annotatedTarget "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22466463"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060863 ; owl:annotatedTarget "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12724643"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26691986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060864 ; owl:annotatedTarget "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26744326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060865 ; owl:annotatedTarget "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8251014"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060866 ; owl:annotatedTarget "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16020690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050088 ; owl:annotatedTarget "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15805158"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1719811"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060867 ; owl:annotatedTarget "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11704758"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9710032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060868 ; owl:annotatedTarget "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12944416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060869 ; owl:annotatedTarget "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060870 ; owl:annotatedTarget "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11912510"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11918723"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3579358"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060871 ; owl:annotatedTarget "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15671105"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060872 ; owl:annotatedTarget "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16060904"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060873 ; owl:annotatedTarget "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10678654"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8528260"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060874 ; owl:annotatedTarget "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf"^^xsd:string, "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050089 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8013627"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060875 ; owl:annotatedTarget "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4247927"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7524919"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060877 ; owl:annotatedTarget "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10935639"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/874665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060878 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18818955"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060879 ; owl:annotatedTarget "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10390358"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16501001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060880 ; owl:annotatedTarget "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17033971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060881 ; owl:annotatedTarget "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12584272"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17671655"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060882 ; owl:annotatedTarget "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032568"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12032570"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18818955"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060883 ; owl:annotatedTarget "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21397062"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060884 ; owl:annotatedTarget "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050090 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11062458"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3298795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060885 ; owl:annotatedTarget "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19079258"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060886 ; owl:annotatedTarget "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27374772"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060887 ; owl:annotatedTarget "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6229618"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060888 ; owl:annotatedTarget "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Prune_belly_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15912376"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22077972"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060889 ; owl:annotatedTarget "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27387249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060890 ; owl:annotatedTarget "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22563501"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23211418"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26703368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060891 ; owl:annotatedTarget "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050091 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060892 ; owl:annotatedTarget "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060893 ; owl:annotatedTarget "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060894 ; owl:annotatedTarget "A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14755720"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17251522"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060895 ; owl:annotatedTarget "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26942284"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060896 ; owl:annotatedTarget "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21763483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060897 ; owl:annotatedTarget "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050092 ; owl:annotatedTarget "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23804563"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23804577"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060898 ; owl:annotatedTarget "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18570303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060900 ; owl:annotatedTarget "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10313"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10632755"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060901 ; owl:annotatedTarget "A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10973257"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15083694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060902 ; owl:annotatedTarget "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thrombosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060903 ; owl:annotatedTarget "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Legume"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060904 ; owl:annotatedTarget "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sporotrichosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050093 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16678356"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22772369"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0060911 ; owl:annotatedTarget "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070000 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070001 ; owl:annotatedTarget "A disease of cellular proliferation that results in an abnormal mass of tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27573165"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070002 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "DO:lh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:RO_0001000 ; owl:annotatedTarget "Type of tissue or cell/the source of the material."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/228723-overview"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050094 ; owl:annotatedTarget "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Blastoma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070003 ; owl:annotatedTarget "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19357394"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070004 ; owl:annotatedTarget "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26595769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070005 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21983783"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070006 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12640452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070007 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25105364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070008 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24389050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070009 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20522431"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070010 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22933543"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070011 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sporotrichosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050095 ; owl:annotatedTarget "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21131973"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070012 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21998596"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070013 ; owl:annotatedTarget "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11574891"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070014 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17507419"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070015 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA3 on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16247010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070016 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18523010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070017 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070018 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21205863"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070019 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23329068"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070020 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17785587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070021 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19461895"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070022 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25205116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070023 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25893599"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070024 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9590285"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070025 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070026 ; owl:annotatedTarget "A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2900981"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070027 ; owl:annotatedTarget "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2111584"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070028 ; owl:annotatedTarget "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10391242"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7086452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070029 ; owl:annotatedTarget "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10781099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070030 ; owl:annotatedTarget "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21981781"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070031 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18060736"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070032 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DOCK8 on chromosome 9p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19012874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070033 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9731535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070083 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9246509"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070084 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15197400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070085 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11001582"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070086 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12929083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070087 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14750073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070088 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9012828"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070089 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18677311"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070090 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20385823"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070091 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21346763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070092 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23341099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070093 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8477259"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070094 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18925668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070095 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18680187"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070096 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9345097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070097 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14722913"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070098 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23050561"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070099 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA5 on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23395477"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070100 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11704759"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070101 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of PTPN11 on chromosome 12q24.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5782826"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070102 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal recessive mutation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16474405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070103 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of KRAS on chromosome 12p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17143285"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070104 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS1 on chromosome 2p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17603483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070105 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RAF1 on chromosome 3p25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19966803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070106 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of NRAS on chromosome 1p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19206169"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070107 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of BRAF on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23791108"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070108 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RIT1 on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070109 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS2 on chromosome 14q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070110 ; owl:annotatedTarget "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of LZTR1 on chromosome 22q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13696518"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19405096"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070111 ; owl:annotatedTarget "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12369017"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13696518"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070112 ; owl:annotatedTarget "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11182931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070113 ; owl:annotatedTarget "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050097 ; owl:annotatedTarget "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17470133"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070114 ; owl:annotatedTarget "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16415886"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070115 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20512146"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070116 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16415887"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070117 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17564974"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070118 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17558409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070119 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18513680"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070120 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18371931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070121 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21462283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070122 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050098 ; owl:annotatedTarget "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2792087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070123 ; owl:annotatedTarget "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9590296"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070124 ; owl:annotatedTarget "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16418214"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070125 ; owl:annotatedTarget "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050099 ; owl:annotatedTarget "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8954020"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070126 ; owl:annotatedTarget "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15870119"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8976668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070127 ; owl:annotatedTarget "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22168587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070128 ; owl:annotatedTarget "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070129 ; owl:annotatedTarget "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9580666"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9873040"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070130 ; owl:annotatedTarget "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26320891"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070131 ; owl:annotatedTarget "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050100 ; owl:annotatedTarget "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11092761"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070132 ; owl:annotatedTarget "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16685658"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19664000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070133 ; owl:annotatedTarget "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18157129"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19401719"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070134 ; owl:annotatedTarget "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12189163"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070135 ; owl:annotatedTarget "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12618961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070136 ; owl:annotatedTarget "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19576563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070137 ; owl:annotatedTarget "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19648921"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070138 ; owl:annotatedTarget "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19836010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070139 ; owl:annotatedTarget "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070140 ; owl:annotatedTarget "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050101 ; owl:annotatedTarget "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070141 ; owl:annotatedTarget "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18348261"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070142 ; owl:annotatedTarget "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18388779"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070143 ; owl:annotatedTarget "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19401719"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070144 ; owl:annotatedTarget "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14976160"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/77656"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070145 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemangiosarcoma"^^xsd:string, "url:https://en.wikipedia.org/wiki/Angiosarcoma"^^xsd:string, "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23327728"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0001816 ; owl:annotatedTarget "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html"^^xsd:string, "url:http://www.springerlink.com/content/q856g32375864654/fulltext.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050102 ; owl:annotatedTarget "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14272277"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8696348"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070146 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820098"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070147 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12870133"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16311270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070148 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24036948"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070149 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jstor.org/stable/pdfplus/3756652.pdf"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050103 ; owl:annotatedTarget "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19838196"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24327336"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070150 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22522446"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070151 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11242114"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070152 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26005867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070153 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24459106"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070154 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050104 ; owl:annotatedTarget "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14152533"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15060842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070155 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21194679"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070156 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20920666"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070157 ; owl:annotatedTarget "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21532572"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070158 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3866836"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070159 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/191348"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070160 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21089229"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070161 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18348718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070162 ; owl:annotatedTarget "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28199965"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070163 ; owl:annotatedTarget "A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15367911"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070164 ; owl:annotatedTarget "A male infertility characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24360805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070165 ; owl:annotatedTarget "A male infertility characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28552195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070166 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17847006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070167 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23582645"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070168 ; owl:annotatedTarget "A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20887963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070169 ; owl:annotatedTarget "A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28552195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070170 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23315541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070171 ; owl:annotatedTarget "A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25899990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070172 ; owl:annotatedTarget "An azoospermia characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19344877"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070173 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26721930"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070174 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14643120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070176 ; owl:annotatedTarget "An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050105 ; owl:annotatedTarget "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28206990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070177 ; owl:annotatedTarget "An azoospermia characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22275165"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070178 ; owl:annotatedTarget "A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24431330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070179 ; owl:annotatedTarget "An azoospermia characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17047026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070180 ; owl:annotatedTarget "A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28206990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070181 ; owl:annotatedTarget "An azoospermia characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050106 ; owl:annotatedTarget "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24431330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070182 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17435757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070183 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27640305"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070184 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25970010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070185 ; owl:annotatedTarget "An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050107 ; owl:annotatedTarget "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2603934"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070186 ; owl:annotatedTarget "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19737515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070187 ; owl:annotatedTarget "A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7446525"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070188 ; owl:annotatedTarget "A male infertility characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10507722"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070189 ; owl:annotatedTarget "A Sertoli cell-only syndrome characterized by X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/138990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070190 ; owl:annotatedTarget "A chronic granulomatous disease characterized by autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050108 ; owl:annotatedTarget "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7795241"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070191 ; owl:annotatedTarget "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2770793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070192 ; owl:annotatedTarget "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2770793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070193 ; owl:annotatedTarget "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19692703"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070194 ; owl:annotatedTarget "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4039107"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070195 ; owl:annotatedTarget "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5834698"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070196 ; owl:annotatedTarget "A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Pterygium_(conjunctiva)"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0002116 ; owl:annotatedTarget "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050110 ; owl:annotatedTarget "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15322983"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7847377"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070197 ; owl:annotatedTarget "A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3942856"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070198 ; owl:annotatedTarget "A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9731526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070199 ; owl:annotatedTarget "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9673985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070200 ; owl:annotatedTarget "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20096397"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070201 ; owl:annotatedTarget "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050111 ; owl:annotatedTarget "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10587585"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/170190"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070202 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20049731"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070203 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10622252"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070204 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21345103"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070205 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24848981"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070206 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/787217-overview"^^xsd:string, "url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050112 ; owl:annotatedTarget "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3712389"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070207 ; owl:annotatedTarget "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20537300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070208 ; owl:annotatedTarget "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23410910"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070209 ; owl:annotatedTarget "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10835628"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9817924"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070210 ; owl:annotatedTarget "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18193458"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070211 ; owl:annotatedTarget "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9817924"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070212 ; owl:annotatedTarget "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050113 ; owl:annotatedTarget "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6342849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070213 ; owl:annotatedTarget "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17701893"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070214 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11489939"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070215 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11916951"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9435328"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070216 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8769351"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9571255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070217 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trichophyton"^^xsd:string, "url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050115 ; owl:annotatedTarget "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8923010"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9356020"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070218 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7005072"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7716548"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8545179"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070219 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15161766"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070220 ; owl:annotatedTarget "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15239083"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8014759"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070221 ; owl:annotatedTarget "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9806540"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070222 ; owl:annotatedTarget "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9419367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070223 ; owl:annotatedTarget "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24614073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070224 ; owl:annotatedTarget "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26888176"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070225 ; owl:annotatedTarget "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9500542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070226 ; owl:annotatedTarget "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27936482"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070227 ; owl:annotatedTarget "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15888793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070228 ; owl:annotatedTarget "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050116 ; owl:annotatedTarget "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9419367"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070229 ; owl:annotatedTarget "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23402083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070230 ; owl:annotatedTarget "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9500542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070231 ; owl:annotatedTarget "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15300568"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070232 ; owl:annotatedTarget "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22772368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070233 ; owl:annotatedTarget "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15235604"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15731757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070234 ; owl:annotatedTarget "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15731757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070235 ; owl:annotatedTarget "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23824657"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25835445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070236 ; owl:annotatedTarget "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21217753"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070237 ; owl:annotatedTarget "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19375058"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070238 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17332895"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070239 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17186472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070240 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS2 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18319072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070241 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19375058"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070242 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21540551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070243 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25658047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070244 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26084283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070245 ; owl:annotatedTarget "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8042665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070246 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10080180"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10814726"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070247 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10739764"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070248 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17761684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070249 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17761684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070250 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18179888"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070251 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK22259/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0014667 ; owl:annotatedTarget "A disease that involving errors in metabolic processes of building or degradation of molecules."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21391237"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070252 ; owl:annotatedTarget "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8127054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070253 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10788335"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070254 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10590041"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070255 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11901181"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070256 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15107842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070257 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11157507"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070258 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16537452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070259 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17220172"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070260 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19690088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070261 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19494034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070262 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22683087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070263 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20605848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070264 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23561849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070265 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26637978"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070266 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26833332"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070267 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26833330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070268 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050117 ; owl:annotatedTarget "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24784932"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070269 ; owl:annotatedTarget "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19098912"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070270 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8261515"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8574961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070271 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9354786"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070272 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9590282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070273 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8128251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070274 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8072530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070275 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12702580"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070276 ; owl:annotatedTarget "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30043326/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26005868"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070277 ; owl:annotatedTarget "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19215732"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070278 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24951542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070279 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12355089"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070280 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29036432"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070281 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22521416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070282 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24748105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070283 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23918663"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070284 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12046007"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070285 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15793586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070286 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23418308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070287 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27453578"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070288 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25259927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070289 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15793586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070290 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22983954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070291 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598275"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070292 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20890279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070293 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23178126"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070294 ; owl:annotatedTarget "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27008544"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070295 ; owl:annotatedTarget "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15806441"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28912110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070296 ; owl:annotatedTarget "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28912110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070297 ; owl:annotatedTarget "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8528240"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070298 ; owl:annotatedTarget "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11479597"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070299 ; owl:annotatedTarget "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10465113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070300 ; owl:annotatedTarget "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11565064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070301 ; owl:annotatedTarget "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28742282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070302 ; owl:annotatedTarget "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.org/dc/elements/1.1/title" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource dc:title ; owl:annotatedTarget "Title."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7670471"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7670472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070303 ; owl:annotatedTarget "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10090888"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070304 ; owl:annotatedTarget "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10090888"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11891674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070305 ; owl:annotatedTarget "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20395899"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=15365608"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=18963350"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29055751"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070306 ; owl:annotatedTarget "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070307 ; owl:annotatedTarget "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070308 ; owl:annotatedTarget "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050118 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15800200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070309 ; owl:annotatedTarget "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=20301595"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=25629145"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29471610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070310 ; owl:annotatedTarget "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity."^^xsd:string . [] dc:type obo:ECO_0007641, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23628110"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25781171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070311 ; owl:annotatedTarget "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25544610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070312 ; owl:annotatedTarget "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070313 ; owl:annotatedTarget "A nutritional deficiency disease that is characterized by low levels of thiamine."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Obstructive_uropathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24023768"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25402279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26667236"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070314 ; owl:annotatedTarget "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24932961"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28009100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070315 ; owl:annotatedTarget "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24057292"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24259409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070316 ; owl:annotatedTarget "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string, "url:https://medlineplus.gov/ency/article/000339.htm"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070317 ; owl:annotatedTarget "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050119 ; owl:annotatedTarget "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string, "url:https://medlineplus.gov/ency/article/000339.htm"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070318 ; owl:annotatedTarget "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Miliaria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070319 ; owl:annotatedTarget "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Miliaria"^^xsd:string, "url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070320 ; owl:annotatedTarget "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Miliaria"^^xsd:string, "url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070321 ; owl:annotatedTarget "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17714939"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28144610"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30254403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070322 ; owl:annotatedTarget "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx"^^xsd:string, "url:https://en.wikipedia.org/wiki/Acute_myeloid_leukemia"^^xsd:string, "url:https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070323 ; owl:annotatedTarget "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30931288"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070324 ; owl:annotatedTarget "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28324046"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28752085"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070325 ; owl:annotatedTarget "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25666674"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25834363"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070326 ; owl:annotatedTarget "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27517357"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28078671"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070327 ; owl:annotatedTarget "A skin melanoma that arises from a congenital melanocytic nevus."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25979220"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28761617"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30254403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070328 ; owl:annotatedTarget "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29344903"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29950321"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070329 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24462711"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28161430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070330 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30373120"^^xsd:string, "url:https://www.omim.org/entry/612075"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070331 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29576218"^^xsd:string, "url:https://www.omim.org/entry/617954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070332 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31166611"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31642879"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070333 ; owl:annotatedTarget "A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule."^^xsd:string . [] oboInOwl:hasDbXref "url:https://farrp.unl.edu/informallvegetables"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070334 ; owl:annotatedTarget "A food allergy triggered by a vegetable food product."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070335 ; owl:annotatedTarget "A vegetable allergy triggered by celery (Apium graveolens)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/122400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070337 ; owl:annotatedTarget "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cerebellar_hypoplasia"^^xsd:string, "url:https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070338 ; owl:annotatedTarget "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31785787/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070339 ; owl:annotatedTarget "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/215700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070340 ; owl:annotatedTarget "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/605814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070341 ; owl:annotatedTarget "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/603471?search=603471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070342 ; owl:annotatedTarget "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis"^^xsd:string, "url:http://www.mayoclinicproceedings.com/inside.asp?AID=57&UID="^^xsd:string, "url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050120 ; owl:annotatedTarget "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070343 ; owl:annotatedTarget "A neuroaxonal dystrophy that has_material_basis in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070344 ; owl:annotatedTarget "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_sypmtom inflamed eyes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29726930"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070345 ; owl:annotatedTarget "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/618571"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070346 ; owl:annotatedTarget "A syndrome that is characterized by common dysmorphic features including frontal bossing, small palebral fissures, widely spaced eyes, and has_symptom abnormal gait, hypotonia, and cataracts."^^xsd:string . [] oboInOwl:hasDbXref "url:https://omim.org/entry/614388"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30850373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070347 ; owl:annotatedTarget "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070348 ; owl:annotatedTarget "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23664120/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070349 ; owl:annotatedTarget "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28635954/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070350 ; owl:annotatedTarget "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20697106/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070351 ; owl:annotatedTarget "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30100084"^^xsd:string, "url:https://www.omim.org/entry/618170"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070352 ; owl:annotatedTarget "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/612018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070353 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30290152"^^xsd:string, "url:https://www.omim.org/entry/618415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070354 ; owl:annotatedTarget "A cataract that has_material_basis homozygous mutation in the DNMBP gene on chromosome 10q24 and is characteriaed by infantile or early-childhood cataracts and visual impairment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Phthisis_bulbi"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29771303"^^xsd:string, "url:https://www.uniprot.org/diseases/DI-05463"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070356 ; owl:annotatedTarget "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31732614"^^xsd:string, "url:https://www.omim.org/entry/301028"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0070357 ; owl:annotatedTarget "A familial nephrotic syndrome that _has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males."^^xsd:string . [] dc:type obo:ECO_0007644 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080000 ; owl:annotatedTarget "A musculoskeletal system disease that affects the muscles."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bone_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080001 ; owl:annotatedTarget "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bone_remodeling"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080005 ; owl:annotatedTarget "A bone disease that results_in formation or resorption abnormalities located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080006 ; owl:annotatedTarget "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20471069"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040001 ; owl:annotatedTarget "A crustacean allergy that has_allergic_trigger shrimp."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome"^^xsd:string, "url:http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050125 ; owl:annotatedTarget "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080007 ; owl:annotatedTarget "A bone structure disease that results_in change or damage of structure located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Avascular_necrosis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080008 ; owl:annotatedTarget "A bone disease that results_in an interruption of blood supply located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/X-linked_dominant_inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080009 ; owl:annotatedTarget "A X-linked monogenic disease that has_material_basis_in dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Human_skeleton"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080010 ; owl:annotatedTarget "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bone_resorption"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11277085"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080011 ; owl:annotatedTarget "A bone remodeling disease that results in an abnormal decrease of bone density or mass."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf"^^xsd:string, "url:http://www.cdc.gov/eid/content/15/2/306.htm"^^xsd:string, "url:http://www.springerlink.com/content/u67424r731431362/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050126 ; owl:annotatedTarget "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/X-linked_recessive_inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080012 ; owl:annotatedTarget "A X-linked monogenic disease that has_material_basis_in recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Chromosome_abnormality"^^xsd:string, "url:http://www.genome.gov/11508982#al-5"^^xsd:string, "url:http://www.rarechromo.org/html/chromosomesanddisorders.asp"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080014 ; owl:annotatedTarget "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080015 ; owl:annotatedTarget "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Spina_bifida"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/spina-bifida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080016 ; owl:annotatedTarget "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080018 ; owl:annotatedTarget "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Metaphyseal_dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080019 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia"^^xsd:string, "url:http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080020 ; owl:annotatedTarget "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia"^^xsd:string, "url:http://www.cigna.com/healthinfo/nord960.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/156500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080021 ; owl:annotatedTarget "A metaphyseal dysplasia that results_in dwarfism and bowed legs."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia"^^xsd:string, "url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/215150"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080026 ; owl:annotatedTarget "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080027 ; owl:annotatedTarget "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/sinusitis"^^xsd:string, "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050127 ; owl:annotatedTarget "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080028 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24113144"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080029 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/602111"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080030 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone"^^xsd:string, "url:http://orthoinfo.aaos.org/topic.cfm?topic=a00083"^^xsd:string, "url:http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080031 ; owl:annotatedTarget "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080032 ; owl:annotatedTarget "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia"^^xsd:string, "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia"^^xsd:string, "url:https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK154653/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080033 ; owl:annotatedTarget "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080034 ; owl:annotatedTarget "A hyperostosis of endosteal bone."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050129 ; owl:annotatedTarget "Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/269500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080036 ; owl:annotatedTarget "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Worth_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29709743"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4942110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080037 ; owl:annotatedTarget "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pycnodysostosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080038 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Axial_osteomalacia"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/109130"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080039 ; owl:annotatedTarget "An osteosclerosis that results_in coarsening located_in trabecular bone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7559718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080040 ; owl:annotatedTarget "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypochondroplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hypochondroplasia"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1477/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080041 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24078737"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080042 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achondrogenesis"^^xsd:string, "url:http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm"^^xsd:string, "url:http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf"^^xsd:string, "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080043 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hypochondrogenesis"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/hypochondrogenesis"^^xsd:string, "url:http://www.healthline.com/galecontent/hypochondrogenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080044 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/kniest-dysplasia"^^xsd:string, "url:http://www.ksginfo.org/kniest.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080045 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Stickler_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/stickler-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1302/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080046 ; owl:annotatedTarget "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pseudoachondroplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/pseudoachondroplasia"^^xsd:string, "url:http://www.healthline.com/galecontent/pseudoachondroplasia"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0"^^xsd:string, "url:http://www.wheelessonline.com/ortho/pseudoachondroplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080047 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cigna.com/healthinfo/nord1087.html"^^xsd:string, "url:http://www.questdiagnostics.com/kbase/nord/nord1087.htm"^^xsd:string, "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia"^^xsd:string, "url:http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080049 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb dwarfism."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050130 ; owl:annotatedTarget "Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/602875"^^xsd:string, "url:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080050 ; owl:annotatedTarget "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/omim/201250"^^xsd:string, "url:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080051 ; owl:annotatedTarget "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx"^^xsd:string, "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098"^^xsd:string, "url:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080052 ; owl:annotatedTarget "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy"^^xsd:string, "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770"^^xsd:string, "url:http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080053 ; owl:annotatedTarget "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1A"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080054 ; owl:annotatedTarget "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1B"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/achondrogenesis"^^xsd:string, "url:http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1516/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080055 ; owl:annotatedTarget "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Achondrogenesis_type_2"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/achondrogenesis"^^xsd:string, "url:http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080056 ; owl:annotatedTarget "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20826435"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080057 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23236289"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080058 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050131 ; owl:annotatedTarget "Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/TPP1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26224725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080059 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24369382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080060 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia"^^xsd:string, "url:https://www.omim.org/entry/606002"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080061 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22901947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080062 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21835308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080063 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26197978"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080064 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25205112"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080065 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25439728"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080066 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12601114"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080067 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26168012"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080068 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25491489"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080069 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/I-cell_disease"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/16116615/"^^xsd:string, "url:https://rarediseases.org/rare-diseases/i-cell-disease/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1828/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080070 ; owl:annotatedTarget "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080071 ; owl:annotatedTarget "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31848803/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080072 ; owl:annotatedTarget "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080073 ; owl:annotatedTarget "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Neural_tube_defect"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK555903/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080074 ; owl:annotatedTarget "A physical disorder characterized by incomplete closure of the neural tube."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616038"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080075 ; owl:annotatedTarget "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050132 ; owl:annotatedTarget "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/256520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080076 ; owl:annotatedTarget "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12324554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080077 ; owl:annotatedTarget "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31364377/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18784102"^^xsd:string, "url:https://www.nejm.org/doi/full/10.1056/NEJMoa020028"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080078 ; owl:annotatedTarget "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080079 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080080 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080081 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/anonychia-congenita"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080082 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mycoses"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050133 ; owl:annotatedTarget "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080083 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080084 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080085 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080086 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080087 ; owl:annotatedTarget "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mycoses"^^xsd:string, "url:http://jama.ama-assn.org/cgi/reprint/61/6/407"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050134 ; owl:annotatedTarget "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080089 ; owl:annotatedTarget "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17099882/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080090 ; owl:annotatedTarget "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16380616/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080091 ; owl:annotatedTarget "A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23687351"^^xsd:string, "url:https://www.omim.org/entry/601419"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080092 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/608810"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080093 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10958653"^^xsd:string, "url:https://www.omim.org/entry/609200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080094 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/609452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080095 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/609524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080096 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/612954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080097 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617114"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080098 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080099 ; owl:annotatedTarget "A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/myopathy-congenital-batten-turner-type/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080100 ; owl:annotatedTarget "A myopathy that is characterized by the lack of muscle tone or floppiness at birth."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19026398/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080101 ; owl:annotatedTarget "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080102 ; owl:annotatedTarget "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2468301"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040002 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger acetylsalicylic acid."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080103 ; owl:annotatedTarget "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080105 ; owl:annotatedTarget "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080106 ; owl:annotatedTarget "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080107 ; owl:annotatedTarget "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9098484"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080108 ; owl:annotatedTarget "A myopathy that is characterized by an increased urinary excretion of myoglobin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27259011/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23731542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080109 ; owl:annotatedTarget "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25957469"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080110 ; owl:annotatedTarget "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/124000?search=124000&highlight=124000"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080111 ; owl:annotatedTarget "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615158?search=615158&highlight=615158"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080112 ; owl:annotatedTarget "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615159?search=615159&highlight=615159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080113 ; owl:annotatedTarget "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615160?search=615160&highlight=615160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080114 ; owl:annotatedTarget "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615453?search=615453&highlight=615453"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080115 ; owl:annotatedTarget "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615824?search=615824&highlight=615824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080116 ; owl:annotatedTarget "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/615838?search=615838&highlight=615838"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080117 ; owl:annotatedTarget "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://omim.org/entry/616111?search=616111&highlight=616111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080118 ; owl:annotatedTarget "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.itg.be/evde/53_Medical_mycologyp3.htm"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050135 ; owl:annotatedTarget "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19056268"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301358"^^xsd:string, "url:https://www.omim.org/entry/603041"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080119 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2881246"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29735374"^^xsd:string, "url:https://www.omim.org/entry/609560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080120 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24423689"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30589726"^^xsd:string, "url:https://www.omim.org/entry/251880"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080121 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30103161"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30451971"^^xsd:string, "url:https://www.omim.org/entry/203700"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080122 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://dermnetnz.org/fungal/systemic-mycoses.html"^^xsd:string, "url:http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050136 ; owl:annotatedTarget "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30385167"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30395865"^^xsd:string, "url:https://www.omim.org/entry/613662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080123 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24986829"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26952923"^^xsd:string, "url:https://www.omim.org/entry/612073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080124 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29282788"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30298599"^^xsd:string, "url:https://www.omim.org/entry/256810"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080125 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18775955"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30391088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080126 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24741716"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30439532"^^xsd:string, "url:https://www.omim.org/entry/612075"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080127 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Podoconiosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050138 ; owl:annotatedTarget "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29217198"^^xsd:string, "url:https://www.omim.org/entry/245400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080128 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23313956"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.omim.org/entry/615084"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080129 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27693233"^^xsd:string, "url:https://www.omim.org/entry/617184"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080130 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26404457"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28940506"^^xsd:string, "url:https://www.omim.org/entry/615471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080131 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sengers_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28712724"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29682452"^^xsd:string, "url:https://www.omim.org/entry/212350"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080132 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Opisthorchis_felineus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050139 ; owl:annotatedTarget "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22077971"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28470589"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29441221"^^xsd:string, "url:https://www.omim.org/entry/605711"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080133 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22562699"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24334290"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29654549"^^xsd:string, "url:https://www.omim.org/entry/614299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080134 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27785568"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28671726"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28913435"^^xsd:string, "url:https://www.omim.org/entry/615330"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080135 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25539947"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29122497"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29297947"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29359243"^^xsd:string, "url:https://www.omim.org/entry/616370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080136 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080137 ; owl:annotatedTarget "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21493957"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080138 ; owl:annotatedTarget "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10441586"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22305531"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080139 ; owl:annotatedTarget "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21493957"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080140 ; owl:annotatedTarget "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diarrhea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050140 ; owl:annotatedTarget "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080141 ; owl:annotatedTarget "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21552266/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080142 ; owl:annotatedTarget "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080143 ; owl:annotatedTarget "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080144 ; owl:annotatedTarget "An acute lymphocytic leukemia occuring during childhood."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080145 ; owl:annotatedTarget "A childhood acute lymphoblastic leukemia that has_material_basis in T-cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080146 ; owl:annotatedTarget "A childhood acute lymphoblastic leukemia that has_material_basis in B-cells."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080147 ; owl:annotatedTarget "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080148 ; owl:annotatedTarget "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080149 ; owl:annotatedTarget "An acute monocytic leukemia occurring in adults."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27041067"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080150 ; owl:annotatedTarget "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050141 ; owl:annotatedTarget "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080153 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080154 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080155 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://press.endocrine.org/doi/full/10.1210/jcem.83.8.5027"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/books/NBK1431/"^^xsd:string, "url:https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27376611"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080156 ; owl:annotatedTarget "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.aao.org/eye-health/diseases/herpes-keratitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080158 ; owl:annotatedTarget "A keratitis that has_material_basis_in herpes simplex type infection."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000642.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080159 ; owl:annotatedTarget "A fungal meningitis that has_material_basis in Crypococcus fungal infection."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000665.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080160 ; owl:annotatedTarget "A retinitis that has_material_basis_in Cytomegalovirus."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000880.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080161 ; owl:annotatedTarget "A candidiasis that is characterized by Candida infection located_in the skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050143 ; owl:annotatedTarget "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1"^^xsd:string, "url:https://medlineplus.gov/ency/article/000481.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080162 ; owl:annotatedTarget "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.omim.org/entry/617099?search=617099&highlight=617099"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27523608"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27559085"^^xsd:string, "url:https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080163 ; owl:annotatedTarget "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19357394"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23489324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080164 ; owl:annotatedTarget "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080165 ; owl:annotatedTarget "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080166 ; owl:annotatedTarget "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080167 ; owl:annotatedTarget "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/001110.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080169 ; owl:annotatedTarget "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21160498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080170 ; owl:annotatedTarget "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome"^^xsd:string, "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19529061"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23243352"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24019633"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25633235"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050144 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080171 ; owl:annotatedTarget "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080172 ; owl:annotatedTarget "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22055685"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080173 ; owl:annotatedTarget "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Bladder_exstrophy"^^xsd:string, "url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21929991"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22055685"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080174 ; owl:annotatedTarget "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080175 ; owl:annotatedTarget "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.who.int/mediacentre/factsheets/fs141/en/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Meningococcal_disease"^^xsd:string, "url:https://www.cdc.gov/meningococcal/about/symptoms.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080176 ; owl:annotatedTarget "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080177 ; owl:annotatedTarget "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mucositis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080178 ; owl:annotatedTarget "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false"^^xsd:string, "url:http://en.wikipedia.org/wiki/Adenoiditis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050145 ; owl:annotatedTarget "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Haemophilus_meningitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080179 ; owl:annotatedTarget "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.who.int/bulletin/volumes/94/6/16-176990/en/"^^xsd:string, "url:https://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080180 ; owl:annotatedTarget "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24697911"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080181 ; owl:annotatedTarget "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080182 ; owl:annotatedTarget "A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/colontumormedullary.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10414504"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20811712"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080183 ; owl:annotatedTarget "A colon carcinoma that is characterized by a solid growth pattern."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20073606"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080184 ; owl:annotatedTarget "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080185 ; owl:annotatedTarget "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17616987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080186 ; owl:annotatedTarget "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Otomycosis"^^xsd:string, "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050147 ; owl:annotatedTarget "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080187 ; owl:annotatedTarget "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30367269"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31093889"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080188 ; owl:annotatedTarget "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://www.rare-cancer.org/info/hemangioendothelioma.php"^^xsd:string, "url:https://en.wikipedia.org/wiki/Hemangioma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080189 ; owl:annotatedTarget "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080190 ; owl:annotatedTarget "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1488/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22628360"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080191 ; owl:annotatedTarget "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene."^^xsd:string . [] dc:type obo:ECO_0007643 ; oboInOwl:hasDbXref "url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050148 ; owl:annotatedTarget "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22160081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080192 ; owl:annotatedTarget "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/superior-semicircular-canal-dehiscence/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10651428/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28503164"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28790965"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080193 ; owl:annotatedTarget "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28681861"^^xsd:string, "url:https://www.omim.org/entry/254940?search=254940&highlight=254940"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080194 ; owl:annotatedTarget "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms"^^xsd:string, "url:https://www.omim.org/entry/248800?search=248800&highlight=248800"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080195 ; owl:annotatedTarget "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK214367/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080196 ; owl:annotatedTarget "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28190459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080197 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10960495"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080198 ; owl:annotatedTarget "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/legionella/patient_facts.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/623097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050150 ; owl:annotatedTarget "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080199 ; owl:annotatedTarget "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080200 ; owl:annotatedTarget "A renal agenesis that is characterized by the absence of both kidneys at birth."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709"^^xsd:string, "url:https://en.wikipedia.org/wiki/Peters-plus_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/peters-plus-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1464/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25544610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080201 ; owl:annotatedTarget "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://codes.iarc.fr/code/2592"^^xsd:string, "url:https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string, "url:https://meshb.nlm.nih.gov/record/ui?ui=D003528"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080202 ; owl:annotatedTarget "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.nature.com/articles/pr2010138"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080204 ; owl:annotatedTarget "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.jci.org/articles/view/95300"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25313840"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080205 ; owl:annotatedTarget "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23862974"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080206 ; owl:annotatedTarget "A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9122509"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050151 ; owl:annotatedTarget "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26235987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080207 ; owl:annotatedTarget "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/non-alcoholic-fatty-liver-disease"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/nonalcoholic-fatty-liver-disease/symptoms-causes/syc-20354567"^^xsd:string, "url:https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash/definition-facts"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080208 ; owl:annotatedTarget "A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23553769"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25193871"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080209 ; owl:annotatedTarget "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28318892"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080210 ; owl:annotatedTarget "A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26989202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080211 ; owl:annotatedTarget "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/173900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080212 ; owl:annotatedTarget "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8651714/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080213 ; owl:annotatedTarget "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23000146/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080214 ; owl:annotatedTarget "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15215304"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21633362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080215 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Duodenal_atresia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080216 ; owl:annotatedTarget "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://omim.org/entry/278000"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080217 ; owl:annotatedTarget "A lipid storage disease characterized by lysosomal and lipase deficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080218 ; owl:annotatedTarget "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1979335/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080219 ; owl:annotatedTarget "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6301273"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6325502"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080222 ; owl:annotatedTarget "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7544663"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080223 ; owl:annotatedTarget "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080224 ; owl:annotatedTarget "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14483916"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040003 ; owl:annotatedTarget "A beta-lactam allergy that has_allergic_trigger benzylpenicillin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28469040/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080225 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26822784"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080226 ; owl:annotatedTarget "A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080227 ; owl:annotatedTarget "A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29100089/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080228 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29100089/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080230 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23033978/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080231 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28191889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080232 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28191889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080233 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Aspiration_pneumonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050152 ; owl:annotatedTarget "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27848077/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080234 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28886345/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080235 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28288114/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080236 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28669405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080237 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28119487/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080238 ; owl:annotatedTarget "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27612186"^^xsd:string, "url:https://www.omim.org/entry/617773"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080239 ; owl:annotatedTarget "An autosomal recessive non-syndromic intellectual disability that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28302723/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28584052/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080240 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26290468/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080241 ; owl:annotatedTarget "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28098945/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080242 ; owl:annotatedTarget "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27412008/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080243 ; owl:annotatedTarget "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080244 ; owl:annotatedTarget "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080245 ; owl:annotatedTarget "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080246 ; owl:annotatedTarget "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080247 ; owl:annotatedTarget "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12648223/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080248 ; owl:annotatedTarget "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25398053/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080249 ; owl:annotatedTarget "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28575652/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080250 ; owl:annotatedTarget "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27965375/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080251 ; owl:annotatedTarget "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28575651/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080252 ; owl:annotatedTarget "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050153 ; owl:annotatedTarget "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26123494/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080253 ; owl:annotatedTarget "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26518474/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080254 ; owl:annotatedTarget "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617564"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080255 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28449065/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080256 ; owl:annotatedTarget "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28369735/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080257 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mycoplasma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050154 ; owl:annotatedTarget "A bacterial pneumonia caused by the genus Mycoplasma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28575648/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080258 ; owl:annotatedTarget "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26812546"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080259 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28002403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080260 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26282398/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080261 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26881968/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080262 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27162350/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080263 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28575650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080264 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in CTNNB1 on chromosome 3p22.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28165343"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30683667"^^xsd:string, "url:https://www.omim.org/entry/617575"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080265 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25927852/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080266 ; owl:annotatedTarget "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27657680/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080267 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28013291/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080268 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29309402/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080269 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28847925/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080270 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27932480"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080271 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25961457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080272 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080273 ; owl:annotatedTarget "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28356563"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29623423"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31016283"^^xsd:string, "url:https://www.omim.org/entry/617613"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080274 ; owl:annotatedTarget "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28625504/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080275 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26595381/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080276 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27208211/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080277 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28965847/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080278 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26167768/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080279 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28686854/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080280 ; owl:annotatedTarget "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28628109/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080281 ; owl:annotatedTarget "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28777935"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080282 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32042915/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28334793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080283 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29740868/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32038177/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29069600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080284 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080285 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28886343/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080286 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29053796/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080287 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29053796/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080288 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23459408/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080289 ; owl:annotatedTarget "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29514032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080290 ; owl:annotatedTarget "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25262651"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080291 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28973684/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080292 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050155 ; owl:annotatedTarget "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28400947/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080293 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28364294/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080294 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27666822/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080295 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28931644/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080296 ; owl:annotatedTarget "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28124119/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080297 ; owl:annotatedTarget """A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12."""^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/acquired-lipodystrophy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080298 ; owl:annotatedTarget "A lipodystrophy that is characterized by complete loss of adipose tissue."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/acquired-lipodystrophy/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080299 ; owl:annotatedTarget "A lipodystrophy that is characterized by partial loss of adipose tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23287278"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080300 ; owl:annotatedTarget "A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29226095"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080301 ; owl:annotatedTarget "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26681187"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080302 ; owl:annotatedTarget "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15628896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080303 ; owl:annotatedTarget "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14602331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080304 ; owl:annotatedTarget "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080305 ; owl:annotatedTarget "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080306 ; owl:annotatedTarget "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23995273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080307 ; owl:annotatedTarget "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy"^^xsd:string, "url:https://www.omim.org/entry/617258"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080308 ; owl:annotatedTarget "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23995273"^^xsd:string, "url:https://www.omim.org/entry/613869"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080309 ; owl:annotatedTarget "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16158428"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080311 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28453519"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080312 ; owl:annotatedTarget "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24163560"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080313 ; owl:annotatedTarget "A physical disorder that is characterized by fusion of maxilla and mandible."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28125083"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9425234"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080314 ; owl:annotatedTarget "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in GUCA1A on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080315 ; owl:annotatedTarget "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21419380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080316 ; owl:annotatedTarget "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20517947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080317 ; owl:annotatedTarget "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20517947"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21419380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080318 ; owl:annotatedTarget "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes"^^xsd:string, "url:https://meshb.nlm.nih.gov/record/ui?ui=C536288"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080319 ; owl:annotatedTarget "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080320 ; owl:annotatedTarget "A central nervous system benign neoplasm the is located_in the peripheral nervous system."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Autonomic_nervous_system"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080321 ; owl:annotatedTarget "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080322 ; owl:annotatedTarget "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080323 ; owl:annotatedTarget "A squamous cell carcinoma located in the pancreas."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/191100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080324 ; owl:annotatedTarget "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28667702"^^xsd:string, "url:https://www.omim.org/entry/613254"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080325 ; owl:annotatedTarget "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080326 ; owl:annotatedTarget "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080327 ; owl:annotatedTarget "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080328 ; owl:annotatedTarget "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK52917/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080329 ; owl:annotatedTarget "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20400119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080330 ; owl:annotatedTarget "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27392078"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080331 ; owl:annotatedTarget "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080332 ; owl:annotatedTarget "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23388002"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080333 ; owl:annotatedTarget "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22275001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080334 ; owl:annotatedTarget "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/SLC25A4#conditions"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22187496"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27693233"^^xsd:string, "url:https://www.omim.org/entry/615418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080335 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26561570"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28494813"^^xsd:string, "url:https://www.omim.org/entry/616896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080336 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/TFAM#conditions"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27448789"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string, "url:https://www.omim.org/entry/617156"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080337 ; owl:annotatedTarget "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16407130"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080338 ; owl:annotatedTarget "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18184961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080339 ; owl:annotatedTarget "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16783569"^^xsd:string, "url:https://www.omim.org/entry/300209"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080342 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616860?search=616860&highlight=616860"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080343 ; owl:annotatedTarget "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050156 ; owl:annotatedTarget "A pulmonary fibrosis that is characterized by scarring of the lung."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080344 ; owl:annotatedTarget "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080345 ; owl:annotatedTarget "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080346 ; owl:annotatedTarget "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/171300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080347 ; owl:annotatedTarget "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/104300?search=104300&highlight=104300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080348 ; owl:annotatedTarget "An Alzheimer's disease that has_material_basis_in mutation in the gene encoding the amyloid precursor protein on chromosome 21q."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19641205/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24515575/"^^xsd:string, "url:https://www.omim.org/entry/612949?search=612949"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080349 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617304"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080350 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25209813"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080351 ; owl:annotatedTarget "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080352 ; owl:annotatedTarget "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080353 ; owl:annotatedTarget "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/22q13_deletion_syndrome"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1198/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29719671"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29896732"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30089781"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080354 ; owl:annotatedTarget "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080355 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the hepatobiliary system."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12521/index"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760655/"^^xsd:string, "url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080356 ; owl:annotatedTarget "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11746950"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040004 ; owl:annotatedTarget "A beta-lactam allergy that has_allergic_trigger amoxicillin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/604377"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080357 ; owl:annotatedTarget "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/615119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080358 ; owl:annotatedTarget "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/616500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080359 ; owl:annotatedTarget "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/616501?search=616501&highlight=616501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080360 ; owl:annotatedTarget "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trimethylaminuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080361 ; owl:annotatedTarget "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080362 ; owl:annotatedTarget "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22628558"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080363 ; owl:annotatedTarget "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18363065/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080364 ; owl:annotatedTarget "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Endometrial_hyperplasia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080365 ; owl:annotatedTarget "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/desmoid-tumor"^^xsd:string, "url:https://rarediseases.org/rare-diseases/desmoid-tumor/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28489620"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080366 ; owl:annotatedTarget "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007641 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia"^^xsd:string, "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080367 ; owl:annotatedTarget "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080368 ; owl:annotatedTarget "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050157 ; owl:annotatedTarget "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080369 ; owl:annotatedTarget "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080370 ; owl:annotatedTarget "A sex cord-stromal benign neoplasm that arises from the ovary."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/testissexcordgeneral.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080371 ; owl:annotatedTarget "A sex cord-stromal benign neoplasm that arises from the testis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://journals.sagepub.com/doi/full/10.1177/1066896918767557"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21164297"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080372 ; owl:annotatedTarget "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Epididymis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080373 ; owl:annotatedTarget "A male reproductive system disease that is located_in the epididymis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080374 ; owl:annotatedTarget "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288"^^xsd:string, "url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16142185"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16456642"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23001799"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050158 ; owl:annotatedTarget "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080375 ; owl:annotatedTarget "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7802/disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080376 ; owl:annotatedTarget "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder"^^xsd:string, "url:https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26627182"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080377 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10742096"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8606597"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080379 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16912710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080380 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26878725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080381 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17086182"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18065803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080382 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9529364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080383 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050159 ; owl:annotatedTarget "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21722858"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080384 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26411495"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080385 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24814193"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080386 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26878725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080387 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23274426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080388 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23434736"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23867502"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080389 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10577936"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9660941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080390 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24270420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080391 ; owl:annotatedTarget "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080392 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080393 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007640, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp"^^xsd:string, "url:http://www.nlm.nih.gov/medlineplus/ency/article/000641.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11988441"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050160 ; owl:annotatedTarget "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080394 ; owl:annotatedTarget "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7711723"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080395 ; owl:annotatedTarget "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2570526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080396 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7668251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080397 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12087515"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7820940"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080398 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10742093"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12807959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080399 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10932188"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080400 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29500247"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080401 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16909398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080402 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16990542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080403 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19249007"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080404 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19270707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080405 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21295280"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080406 ; owl:annotatedTarget "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080407 ; owl:annotatedTarget "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25954033"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080408 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1651563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080409 ; owl:annotatedTarget "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12853198"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080410 ; owl:annotatedTarget "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25938944"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080411 ; owl:annotatedTarget "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27476653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080412 ; owl:annotatedTarget "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23932106"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080413 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23252400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080414 ; owl:annotatedTarget "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24814191"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080415 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25751627"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080416 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32165008/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25558065"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27270415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080417 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27652284"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080418 ; owl:annotatedTarget "A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28007989"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080419 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29466837"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080420 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19786696"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080421 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27544470/"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11359211"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080422 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27545681/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27545674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080424 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/lower_respiratory_tract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050161 ; owl:annotatedTarget "A respiratory system disease which involves the lower respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27872899/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27164707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080425 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28422131/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26539891"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080426 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26486472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080427 ; owl:annotatedTarget "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31618474/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23934111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080428 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30351409/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24747641"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080429 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050165 ; owl:annotatedTarget "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29534297"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080430 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24623842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080431 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29394991"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080432 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27989324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080433 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27066583"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080434 ; owl:annotatedTarget "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27236917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080435 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19557857/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18469812"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080436 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25533962/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25262651"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080437 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20493457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080438 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23086397"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080439 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050166 ; owl:annotatedTarget "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15592994"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080440 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27866705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080441 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27476654"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080442 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30525121/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24399846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080443 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24272827"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28377535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080444 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050167 ; owl:annotatedTarget "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24888894/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22365152"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080445 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29656858"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080446 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27476654/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23934111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080447 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27889060"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080448 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21087195"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23526554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080449 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050168 ; owl:annotatedTarget "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23993195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080450 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25817015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080451 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25411445/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24456803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080452 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27600704/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24995870"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080453 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27476654"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080454 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19710327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080455 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30280376/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27616483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080456 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20118933"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23224214"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080457 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26224535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080458 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22690784/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20833646"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080459 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26333769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080460 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25164438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080461 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15249611"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080462 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080463 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27435091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080464 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040005 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger ceftriaxone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25839329"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080465 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15492925"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22872100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080467 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17668384/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11889467"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080468 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26138355"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080470 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25124326"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080471 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28942967"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080472 ; owl:annotatedTarget "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080473 ; owl:annotatedTarget "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21848462"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080474 ; owl:annotatedTarget "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22521418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080475 ; owl:annotatedTarget "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080476 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080477 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080478 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080479 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/"^^xsd:string ; a owl:Axiom ; rdfs:comment "sn:IEDB"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050169 ; owl:annotatedTarget "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080480 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080481 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080482 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080483 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080484 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080485 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080486 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080487 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mucolipidosis"^^xsd:string, "url:https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucolipidoses-Fact-Sheet"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080488 ; owl:annotatedTarget "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10451169"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050170 ; owl:annotatedTarget "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/404231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080489 ; owl:annotatedTarget "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mucolipidosis_type_IV"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080490 ; owl:annotatedTarget "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/116860?search=116860&highlight=116860"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080491 ; owl:annotatedTarget "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080492 ; owl:annotatedTarget "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/233300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080493 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/300510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080494 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/614324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080495 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050171 ; owl:annotatedTarget "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080496 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080497 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/618078"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080498 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/618117"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080499 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/618187"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080500 ; owl:annotatedTarget "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false"^^xsd:string, "url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf"^^xsd:string, "url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10025535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050172 ; owl:annotatedTarget "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12644936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080501 ; owl:annotatedTarget "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/230500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080502 ; owl:annotatedTarget "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29974678"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080503 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30496485"^^xsd:string, "url:https://www.omim.org/entry/616710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080504 ; owl:annotatedTarget "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20583156"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080505 ; owl:annotatedTarget "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf"^^xsd:string, "url:http://en.wikipedia.org/wiki/California_encephalitis_virus"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10025535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050173 ; owl:annotatedTarget "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22106055"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080506 ; owl:annotatedTarget "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25655089"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080507 ; owl:annotatedTarget "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22633399"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080508 ; owl:annotatedTarget "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22889856"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080509 ; owl:annotatedTarget "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080510 ; owl:annotatedTarget "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080511 ; owl:annotatedTarget "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/224690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080512 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613800"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080513 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080514 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080515 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080516 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/616835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080517 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/617063"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080518 ; owl:annotatedTarget "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/PAPA_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28236224"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28251506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080519 ; owl:annotatedTarget "A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16251947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080520 ; owl:annotatedTarget "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30362335"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080521 ; owl:annotatedTarget "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28707679"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080522 ; owl:annotatedTarget "A thyroid gland carcinoma that is composed of undifferentiated cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27680516"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28921817"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080523 ; owl:annotatedTarget "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080524 ; owl:annotatedTarget "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080525 ; owl:annotatedTarget "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.org/dc/elements/1.1/type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource dc:type ; owl:annotatedTarget "The dc:type."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/2552010"^^xsd:string, "url:https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050174 ; owl:annotatedTarget "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/211400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080526 ; owl:annotatedTarget "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613021"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080527 ; owl:annotatedTarget "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/613071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080528 ; owl:annotatedTarget "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://omim.org/entry/121900?search=121900&highlight=121900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080530 ; owl:annotatedTarget "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.mskcc.org/blog/what-s-new-liposarcoma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26645460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080531 ; owl:annotatedTarget "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/SMARCA4#conditions"^^xsd:string, "url:https://www.nature.com/articles/modpathol201761.pdf?origin=ppub"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26343384"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080532 ; owl:annotatedTarget "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex)."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10643/index"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31174229"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080533 ; owl:annotatedTarget "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27591498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080534 ; owl:annotatedTarget "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080535 ; owl:annotatedTarget "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22341972"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080536 ; owl:annotatedTarget "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27231142"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080537 ; owl:annotatedTarget "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28369379"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080538 ; owl:annotatedTarget "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/PEHO_syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28335020"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30385166"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31048081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080539 ; owl:annotatedTarget "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/galactosialidosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28603679"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080540 ; owl:annotatedTarget "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hyperprolinemia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080541 ; owl:annotatedTarget "An amno acid metabolic disorder that is characterized by the excess of proline in the blood."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080542 ; owl:annotatedTarget "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080543 ; owl:annotatedTarget "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/hyper-igm-syndrome/"^^xsd:string, "url:https://www.niaid.nih.gov/diseases-conditions/types-pidds"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080544 ; owl:annotatedTarget "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080545 ; owl:annotatedTarget "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080546 ; owl:annotatedTarget "A nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/"^^xsd:string, "url:https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080547 ; owl:annotatedTarget "A nonalcoholic fatty liver disease that is characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without any fibrosis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080548 ; owl:annotatedTarget "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17603483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080549 ; owl:annotatedTarget "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080550 ; owl:annotatedTarget "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9795/disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29747658"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080551 ; owl:annotatedTarget "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080552 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25066056"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080553 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/602579"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080554 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16007612"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080555 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080556 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23856421"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080557 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11733556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080558 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050175 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17506107"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080559 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080560 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12684507"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080561 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12872255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080562 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080563 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26453364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080564 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17273964"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080565 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23111317"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080566 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22213132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080567 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20637498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080568 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22305527"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080569 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040006 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger carbamazepine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24499211"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080570 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23109149"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080571 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23842455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080572 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050177 ; owl:annotatedTarget "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23842455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080573 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26264460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080574 ; owl:annotatedTarget "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25893793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080575 ; owl:annotatedTarget "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27213289"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080576 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22."^^xsd:string . [] oboInOwl:hasDbXref "DO:wk"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050178 ; owl:annotatedTarget "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080577 ; owl:annotatedTarget "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28977688"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080578 ; owl:annotatedTarget "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080579 ; owl:annotatedTarget "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080580 ; owl:annotatedTarget "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29390050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080581 ; owl:annotatedTarget "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30401459"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080582 ; owl:annotatedTarget "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8383698"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080583 ; owl:annotatedTarget "A Wolfram syndrome that has_material_basis_in mutation in mtDNA."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18544103"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080584 ; owl:annotatedTarget "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24056717"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080585 ; owl:annotatedTarget "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24056717"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080586 ; owl:annotatedTarget "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28726805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080587 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14660746"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080588 ; owl:annotatedTarget "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18425797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080589 ; owl:annotatedTarget "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23290072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080590 ; owl:annotatedTarget "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19864492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080591 ; owl:annotatedTarget "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25748484"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080592 ; owl:annotatedTarget "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17702008"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080593 ; owl:annotatedTarget "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19776401"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080594 ; owl:annotatedTarget "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29907690"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080595 ; owl:annotatedTarget "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28747427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080596 ; owl:annotatedTarget "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080597 ; owl:annotatedTarget "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29069077"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080598 ; owl:annotatedTarget "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cdc.gov/coronavirus/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK7782/"^^xsd:string, "url:https://www.who.int/health-topics/coronavirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080599 ; owl:annotatedTarget "A viral infectious disease that has_material_basis_in Coronavirus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cdc.gov/coronavirus/2019-ncov/about/index.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145"^^xsd:string, "url:https://www.who.int/emergencies/diseases/novel-coronavirus-2019"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080600 ; owl:annotatedTarget "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050179 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080601 ; owl:annotatedTarget "A benign neoplasm that derives_from germ cells."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13894744"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050180 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080602 ; owl:annotatedTarget "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6332689"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080603 ; owl:annotatedTarget "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15234954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080604 ; owl:annotatedTarget "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19416804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080605 ; owl:annotatedTarget "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080606 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21150893"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080607 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050181 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080608 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080609 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080610 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080611 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080612 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080613 ; owl:annotatedTarget "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6273449"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050182 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080614 ; owl:annotatedTarget "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of SLC24A5 on chromosome 15q21.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.stjude.org/disease/nephroma.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080615 ; owl:annotatedTarget "A kidney benign neoplasm that is located_in the kidney cortex."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.aafp.org/afp/20000201/letters.html"^^xsd:string, "url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050183 ; owl:annotatedTarget "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080616 ; owl:annotatedTarget "A kidney disease that is located_in the kidney cortex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html"^^xsd:string, "url:http://www.springerlink.com/content/2020124072032058/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050184 ; owl:annotatedTarget "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080617 ; owl:annotatedTarget "An immune system organ benign neoplasm that is located_in the lymph nodes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/patientinstructions/000824.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080618 ; owl:annotatedTarget "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080619 ; owl:annotatedTarget "A sensory system benign neoplasm that is located in the auditory system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080620 ; owl:annotatedTarget "An adrenal cortex disease that is characterized by insufficent production of glucocorticoids."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19500760"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080621 ; owl:annotatedTarget "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22871920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080622 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26387595"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080623 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16530715"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080624 ; owl:annotatedTarget "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007640 ; oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050185 ; owl:annotatedTarget "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17133096"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080625 ; owl:annotatedTarget "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080626 ; owl:annotatedTarget "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17451405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080627 ; owl:annotatedTarget "A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28054173"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080628 ; owl:annotatedTarget "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16922726"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080629 ; owl:annotatedTarget "An alopecia-mental retardation syndrome that has_material_basis_in linkage to chromosome 3q26.2-q26.31 locus APMR2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8815757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050186 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080630 ; owl:annotatedTarget "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20949527"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080631 ; owl:annotatedTarget "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK299312/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080632 ; owl:annotatedTarget "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29581714"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080633 ; owl:annotatedTarget "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26."^^xsd:string . [] oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Nanophthalmos"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080634 ; owl:annotatedTarget "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24702266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080635 ; owl:annotatedTarget "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080636 ; owl:annotatedTarget "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050187 ; owl:annotatedTarget "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080637 ; owl:annotatedTarget "A microphthalmia that occurs by itself."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080638 ; owl:annotatedTarget "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080639 ; owl:annotatedTarget "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080640 ; owl:annotatedTarget "A biliary tract benign neoplasm that is located_in the gallbladder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null"^^xsd:string ; a owl:Axiom ; rdfs:comment obo:ECO_0007636 ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080641 ; owl:annotatedTarget "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14464001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050188 ; owl:annotatedTarget "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23891402/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29495250"^^xsd:string, "url:https://www.cdc.gov/coronavirus/mers/index.html"^^xsd:string, "url:https://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov)"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080642 ; owl:annotatedTarget "A Coronavirus infection that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080643 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080644 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080645 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080646 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080647 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080648 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080649 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31069976"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080650 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080651 ; owl:annotatedTarget "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13436875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050189 ; owl:annotatedTarget "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16570061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080652 ; owl:annotatedTarget "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080653 ; owl:annotatedTarget "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14036165"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080654 ; owl:annotatedTarget "An urolithiasis in which the composition of the stones is predominantly urate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMoa020028"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080655 ; owl:annotatedTarget """A kidney disease that is characterized by formation of renal calcium stones or bone demineralization."""^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080656 ; owl:annotatedTarget "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9415483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080661 ; owl:annotatedTarget "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16176547"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080662 ; owl:annotatedTarget "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16176547"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080663 ; owl:annotatedTarget "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://cid.oxfordjournals.org/content/31/3/830.full"^^xsd:string, "url:http://www.medscape.com/viewarticle/414625"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15560392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050190 ; owl:annotatedTarget "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8781110"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22464254"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080664 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/warfarin-resistance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080665 ; owl:annotatedTarget "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080666 ; owl:annotatedTarget "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700538"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080667 ; owl:annotatedTarget "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29499165/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080669 ; owl:annotatedTarget "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25674793"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040007 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger abacavir."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050191 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22174841/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080670 ; owl:annotatedTarget "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18806880/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080671 ; owl:annotatedTarget "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21035103/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080672 ; owl:annotatedTarget "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22246659/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080673 ; owl:annotatedTarget "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080674 ; owl:annotatedTarget "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/vhf/nipah/index.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19141846"^^xsd:string, "url:https://www.who.int/csr/disease/nipah/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050192 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15286167/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080675 ; owl:annotatedTarget "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21671392/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080676 ; owl:annotatedTarget "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15372529/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080677 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10712439/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080678 ; owl:annotatedTarget "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8882403/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080679 ; owl:annotatedTarget "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8882403/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080680 ; owl:annotatedTarget "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050193 ; owl:annotatedTarget "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8644737/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080681 ; owl:annotatedTarget "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16088914/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080682 ; owl:annotatedTarget "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080683 ; owl:annotatedTarget "A nail disease that is characterized by underdevelopment of nails."^^xsd:string . [] oboInOwl:hasDbXref "url:https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31290035/"^^xsd:string, "url:https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080684 ; owl:annotatedTarget "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK441963/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080685 ; owl:annotatedTarget "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080686 ; owl:annotatedTarget "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18952429/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080687 ; owl:annotatedTarget "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080688 ; owl:annotatedTarget "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28553959/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080689 ; owl:annotatedTarget "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/RASopathy"^^xsd:string, "url:https://www.nature.com/articles/jhg2015114"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080690 ; owl:annotatedTarget "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10719/disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080691 ; owl:annotatedTarget "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25137548/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30329053/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080692 ; owl:annotatedTarget "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27264673/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28211982/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080693 ; owl:annotatedTarget "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20083416/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26123727"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080694 ; owl:annotatedTarget "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK373577/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080695 ; owl:annotatedTarget """A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature."""^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/winchester-syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29741626/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080696 ; owl:annotatedTarget "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15558842/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080697 ; owl:annotatedTarget "An Opitz-GBBB syndrome that has_material_basis_in mutation in the MID1 gene on Xp22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25412741/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080698 ; owl:annotatedTarget "An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31198081/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080699 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by the lack of glutathione production."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30574238"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/32200015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080700 ; owl:annotatedTarget "A physical disorder that is characterized by impairment of the development of the lower half of the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21707594/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080701 ; owl:annotatedTarget "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29582169/"^^xsd:string, "url:https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080702 ; owl:annotatedTarget "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent."^^xsd:string . [] oboInOwl:hasDbXref "url:https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29582169/"^^xsd:string, "url:https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080703 ; owl:annotatedTarget "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ascopubs.org/doi/10.1200/JCO.2012.48.5052"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080704 ; owl:annotatedTarget "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080705 ; owl:annotatedTarget "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30392813/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080706 ; owl:annotatedTarget "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29427151/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30876441/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080707 ; owl:annotatedTarget "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29427151/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080708 ; owl:annotatedTarget "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080709 ; owl:annotatedTarget "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31257346/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080710 ; owl:annotatedTarget "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html"^^xsd:string, "url:https://www.cdc.gov/mis-c/hcp/"^^xsd:string, "url:https://www.cdc.gov/mis-c/index.html"^^xsd:string, "url:https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080711 ; owl:annotatedTarget "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.genome.gov/genetics-glossary/Duplication"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080712 ; owl:annotatedTarget "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever"^^xsd:string, "url:http://www.jstor.org/stable/30129873?seq=1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050194 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080713 ; owl:annotatedTarget "A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30007465/"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080714 ; owl:annotatedTarget "A syndrome that has_material_basis_in inherited extra copies of the alpha tryptase gene and that is characterized by high blood tryptase levels."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31422819/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080715 ; owl:annotatedTarget "A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/13114/disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080716 ; owl:annotatedTarget "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22607940/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080717 ; owl:annotatedTarget "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29720219/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30338442/"^^xsd:string, "url:https://rarediseases.org/rare-diseases/gne-myopathy/"^^xsd:string, "url:https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080718 ; owl:annotatedTarget "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24193343/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080719 ; owl:annotatedTarget "A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28396750/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080720 ; owl:annotatedTarget "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080721 ; owl:annotatedTarget "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9806825/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080722 ; owl:annotatedTarget "A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23996431/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080723 ; owl:annotatedTarget "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080724 ; owl:annotatedTarget "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8340514/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080725 ; owl:annotatedTarget "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22696272/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080726 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18409203/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080727 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18409203/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080728 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080729 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16816023/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080730 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080731 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080732 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080733 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050195 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080734 ; owl:annotatedTarget """An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36."""^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080735 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080736 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080737 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23956117/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080738 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18513683/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080739 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25807885/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30422459/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080740 ; owl:annotatedTarget "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080741 ; owl:annotatedTarget "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15560034/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25374727/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080742 ; owl:annotatedTarget "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726"^^xsd:string, "url:https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/transverse-myelitis-fact-sheet"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080743 ; owl:annotatedTarget "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Antisynthetase_syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27594777/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080744 ; owl:annotatedTarget "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/12053-polymyositis"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080745 ; owl:annotatedTarget "A myositis that is characterized by muscle weakness affecting both sides of your body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17655751/"^^xsd:string, "url:https://rarediseases.org/rare-diseases/sweet-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK431050/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080746 ; owl:annotatedTarget "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30033911/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080747 ; owl:annotatedTarget "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080748 ; owl:annotatedTarget "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14501436/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28671445/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080749 ; owl:annotatedTarget "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Erythema_nodosum"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30269303/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080750 ; owl:annotatedTarget "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26142438/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080751 ; owl:annotatedTarget "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080752 ; owl:annotatedTarget "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080753 ; owl:annotatedTarget "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18984066/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080754 ; owl:annotatedTarget "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18984066/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080755 ; owl:annotatedTarget "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19326693/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080756 ; owl:annotatedTarget "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11090339/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080757 ; owl:annotatedTarget "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/SLC34A1"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26047794/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080758 ; owl:annotatedTarget "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24401050/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080759 ; owl:annotatedTarget "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24285859/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31875549/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080760 ; owl:annotatedTarget "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27466185/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080761 ; owl:annotatedTarget "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27807076/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31897643/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080762 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080763 ; owl:annotatedTarget "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20591882/"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10900/disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080764 ; owl:annotatedTarget "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29302074/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31564433/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080765 ; owl:annotatedTarget "A syndromic intellectual disability that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30528822/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080766 ; owl:annotatedTarget "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080767 ; owl:annotatedTarget "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29053735/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30043187/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30154848/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30668673/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1486/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080768 ; owl:annotatedTarget "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27912044/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080769 ; owl:annotatedTarget "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1971109/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080770 ; owl:annotatedTarget "A beta thalassemia that has material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/12480689/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19258591"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080771 ; owl:annotatedTarget "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080772 ; owl:annotatedTarget "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30706898/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31444804/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080773 ; owl:annotatedTarget "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080774 ; owl:annotatedTarget "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080775 ; owl:annotatedTarget "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26303084/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080776 ; owl:annotatedTarget "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28081478/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080777 ; owl:annotatedTarget "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040008 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger isoniazide."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19732863/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21931168/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27689697/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080778 ; owl:annotatedTarget "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080779 ; owl:annotatedTarget "A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acute_erythroid_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080780 ; owl:annotatedTarget "An acute myeloid leukemia that is characterized by a predominant immature erythroid population."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080781 ; owl:annotatedTarget "An endocrine organ benign neoplasm arising from the exocrine pancreas."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/articles/s41598-018-24540-7"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080782 ; owl:annotatedTarget "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/urinarytractinfections.html"^^xsd:string, "url:https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html"^^xsd:string, "url:https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080784 ; owl:annotatedTarget "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20206331/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080785 ; owl:annotatedTarget "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20206331/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080786 ; owl:annotatedTarget "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16353259/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080787 ; owl:annotatedTarget "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16892395/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080788 ; owl:annotatedTarget "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15340364/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080789 ; owl:annotatedTarget "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25790162/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080790 ; owl:annotatedTarget "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11013442/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080791 ; owl:annotatedTarget "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31649276/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080792 ; owl:annotatedTarget "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28867167/"^^xsd:string, "url:https://www.nature.com/articles/ng.3772"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080794 ; owl:annotatedTarget "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/leukemiabasophil.html"^^xsd:string, "url:https://en.wikipedia.org/wiki/Acute_basophilic_leukemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080795 ; owl:annotatedTarget "An acute myeloid leukemia that is characterized by primary differentiation to basophils."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26980726/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080796 ; owl:annotatedTarget "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29602763/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080797 ; owl:annotatedTarget "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26910243/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31606922/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080798 ; owl:annotatedTarget "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_mateiral_basis_in mutation in the GATA1 gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30806835/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080799 ; owl:annotatedTarget "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26908552/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080800 ; owl:annotatedTarget "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9382103/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080801 ; owl:annotatedTarget "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9382103/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080802 ; owl:annotatedTarget "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/517478/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080803 ; owl:annotatedTarget "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080804 ; owl:annotatedTarget "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080805 ; owl:annotatedTarget "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080806 ; owl:annotatedTarget "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21221996/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080807 ; owl:annotatedTarget "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080808 ; owl:annotatedTarget "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK7223/"^^xsd:string, "url:https://www.nhlbi.nih.gov/health-topics/asthma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080809 ; owl:annotatedTarget "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27554811/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080810 ; owl:annotatedTarget "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080811 ; owl:annotatedTarget "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080812 ; owl:annotatedTarget "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050196 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080813 ; owl:annotatedTarget "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080814 ; owl:annotatedTarget "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080815 ; owl:annotatedTarget "A chronic asthma that is characterized by first presentation in early childhood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080816 ; owl:annotatedTarget "A chronic asthma that is characterized by first presentation in adulthood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21281866/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080817 ; owl:annotatedTarget "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21281866/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080818 ; owl:annotatedTarget "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK526018/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080819 ; owl:annotatedTarget "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000110.htm"^^xsd:string, "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080820 ; owl:annotatedTarget "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29631730/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080821 ; owl:annotatedTarget "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11028656/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080822 ; owl:annotatedTarget "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27425166/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080823 ; owl:annotatedTarget "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080824 ; owl:annotatedTarget "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29413334/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29880151/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31190900/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080825 ; owl:annotatedTarget "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17571537/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080826 ; owl:annotatedTarget "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25205255/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080827 ; owl:annotatedTarget "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMoa2026834"^^xsd:string, "url:https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080828 ; owl:annotatedTarget "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutations in the UBA1 gene."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7905555"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050197 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx"^^xsd:string, "url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080829 ; owl:annotatedTarget "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23583981/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080830 ; owl:annotatedTarget "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24798886/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080831 ; owl:annotatedTarget "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29282327/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080832 ; owl:annotatedTarget "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia"^^xsd:string, "url:https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080833 ; owl:annotatedTarget "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24615649/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080834 ; owl:annotatedTarget "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32317443/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32734340/"^^xsd:string, "url:https://rarediseases.org/rare-diseases/torch-syndrome/"^^xsd:string, "url:https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080835 ; owl:annotatedTarget "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16787985/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080836 ; owl:annotatedTarget "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29844444/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080837 ; owl:annotatedTarget """A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21."""^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29450643/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080839 ; owl:annotatedTarget "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32219868/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080840 ; owl:annotatedTarget "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/pemphigus/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080841 ; owl:annotatedTarget "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17961033/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080842 ; owl:annotatedTarget "A meningioma that arises within the cranial cavity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26636386/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080843 ; owl:annotatedTarget "A meningioma that affects the supratentorial brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17823719/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080844 ; owl:annotatedTarget "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25759469/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080845 ; owl:annotatedTarget "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29947172/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30565440/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080846 ; owl:annotatedTarget "A diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.bmj.com/content/371/bmj.m4470"^^xsd:string, "url:https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1"^^xsd:string, "url:https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1"^^xsd:string, "url:https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1"^^xsd:string, "url:https://www.nature.com/articles/d41586-020-02796-2"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080848 ; owl:annotatedTarget "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Oculomotor_apraxia"^^xsd:string, "url:https://eyewiki.aao.org/Oculomotor_Apraxia"^^xsd:string, "url:https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080849 ; owl:annotatedTarget "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements."^^xsd:string . [] oboInOwl:hasDbXref "url:https://dermnetnz.org/topics/pemphigus-foliaceus/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080850 ; owl:annotatedTarget "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK519063/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080851 ; owl:annotatedTarget "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence."^^xsd:string . [] oboInOwl:hasDbXref "url:https://dermnetnz.org/topics/paraneoplastic-pemphigus/"^^xsd:string, "url:https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080852 ; owl:annotatedTarget "A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hindawi.com/journals/crinm/2018/6428492/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080854 ; owl:annotatedTarget "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080855 ; owl:annotatedTarget "A movement disorder that is characterized by disturbances of balance, gait and posture."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080856 ; owl:annotatedTarget "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27861765/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080857 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9497258/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080858 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16773570/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080859 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12149404/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080860 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://omim.org/entry/300510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080861 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17701902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080862 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18499083/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080863 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26523528/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080864 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24597867/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080865 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24597873/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080866 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050198 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25873734/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080867 ; owl:annotatedTarget "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26218421/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080868 ; owl:annotatedTarget "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25062452/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080869 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28175301/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080870 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29044499/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080871 ; owl:annotatedTarget "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29231814/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080872 ; owl:annotatedTarget "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30010909/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080873 ; owl:annotatedTarget "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30489636/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080874 ; owl:annotatedTarget "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/anaastroidhmutant.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080875 ; owl:annotatedTarget "An anaplastic astrocytoma carrying IDH mutations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080876 ; owl:annotatedTarget "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/cnstumorglioblastomaidhmutant.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080877 ; owl:annotatedTarget "A glioblastoma that is characterized by astrocytic differentiation, elevated mitotic activity and necrosis or vascular proliferation and that has_material_basis_in IDH1 or IDH2 gene mutations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080878 ; owl:annotatedTarget "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080879 ; owl:annotatedTarget "A high grade glioma that has_material_basis_in mutations in the genes encoding histones."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30358620/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080880 ; owl:annotatedTarget "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.futuremedicine.com/doi/10.2217/cns-2019-0009"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080881 ; owl:annotatedTarget "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/articles/s41598-020-68733-5"^^xsd:string, "url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080882 ; owl:annotatedTarget "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets/#synonyms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080883 ; owl:annotatedTarget "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27705794/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080884 ; owl:annotatedTarget "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080885 ; owl:annotatedTarget "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27705794/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080886 ; owl:annotatedTarget "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jama.ama-assn.org/cgi/content/full/284/10/1237"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050199 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26365513/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080887 ; owl:annotatedTarget "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080888 ; owl:annotatedTarget "A spinal cord ependymoma that is characterized by MYCN amplification."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26351223/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32502305/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080889 ; owl:annotatedTarget "A high grade ependymoma that is located within the posterior fossa."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27858204/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080890 ; owl:annotatedTarget "A high grade ependymoma that is located within the supratentorial brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.nature.com/articles/s41467-019-11884-5"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080891 ; owl:annotatedTarget "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080892 ; owl:annotatedTarget "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23383720/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23672984/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27901041/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32132929/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK563693/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080893 ; owl:annotatedTarget "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27259011/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080894 ; owl:annotatedTarget "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080895 ; owl:annotatedTarget "A hemangioma that is characterized by complete regression."^^xsd:string . [] oboInOwl:hasDbXref "url:http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30085941/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080896 ; owl:annotatedTarget "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29521591/"^^xsd:string, "url:https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml"^^xsd:string, "url:https://www.sciencedirect.com/science/article/pii/S221475191830183X"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080897 ; owl:annotatedTarget "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32896090/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080898 ; owl:annotatedTarget "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9013953"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040009 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger lidocaine."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389939/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty oboInOwl:hasDbXref ; owl:annotatedSource obo:DOID_0080898 ; owl:annotatedTarget "OMIM:616202"^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31355240/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080899 ; owl:annotatedTarget "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080900 ; owl:annotatedTarget "A rhabdomyosarcoma located in the oral cavity."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30287139/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080901 ; owl:annotatedTarget "A sarcomatoid transitional cell carcinoma that is located_in the bladder."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29763719/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080902 ; owl:annotatedTarget "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080903 ; owl:annotatedTarget "A central nervous system primitive neuroectodermal neoplasm that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31111274/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080904 ; owl:annotatedTarget "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29520437/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080905 ; owl:annotatedTarget "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres."^^xsd:string . [] oboInOwl:hasDbXref "url:https://link.springer.com/article/10.1007%2Fs10014-020-00370-2"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080906 ; owl:annotatedTarget "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080907 ; owl:annotatedTarget "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080908 ; owl:annotatedTarget "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.auanet.org/guidelines/prostate-cancer-castration-resistant-guideline"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080909 ; owl:annotatedTarget "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080910 ; owl:annotatedTarget "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20456449/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080911 ; owl:annotatedTarget "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11443545/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080912 ; owl:annotatedTarget "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24700531/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080913 ; owl:annotatedTarget "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23623389/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080914 ; owl:annotatedTarget "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080915 ; owl:annotatedTarget "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080916 ; owl:annotatedTarget "An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow."^^xsd:string . [] oboInOwl:hasDbXref "url:https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080917 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10489031/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080918 ; owl:annotatedTarget "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080919 ; owl:annotatedTarget "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080920 ; owl:annotatedTarget "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain."^^xsd:string . [] oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080921 ; owl:annotatedTarget "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080922 ; owl:annotatedTarget "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10690985/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9005867/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080923 ; owl:annotatedTarget "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24531968/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080924 ; owl:annotatedTarget "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1419/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080925 ; owl:annotatedTarget "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK327268/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080926 ; owl:annotatedTarget "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27262366/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080927 ; owl:annotatedTarget "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080928 ; owl:annotatedTarget "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32392555/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080929 ; owl:annotatedTarget "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19663869/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080930 ; owl:annotatedTarget "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19663869/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080931 ; owl:annotatedTarget "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25866143/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080932 ; owl:annotatedTarget "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26771835/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080933 ; owl:annotatedTarget "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells."^^xsd:string . [] oboInOwl:hasDbXref "url:https://doi.org/10.1016/j.clml.2020.06.017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080934 ; owl:annotatedTarget "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23302715/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080935 ; owl:annotatedTarget "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080936 ; owl:annotatedTarget "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080937 ; owl:annotatedTarget "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25369489/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080938 ; owl:annotatedTarget "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11161971/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080939 ; owl:annotatedTarget "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16638441/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080940 ; owl:annotatedTarget "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK430889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080941 ; owl:annotatedTarget "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK84550/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080942 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false"^^xsd:string, "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1349231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050200 ; owl:annotatedTarget "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29478779/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080943 ; owl:annotatedTarget "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26642243/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080944 ; owl:annotatedTarget "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31358993/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080945 ; owl:annotatedTarget "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27799409/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080946 ; owl:annotatedTarget "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080947 ; owl:annotatedTarget "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31585109/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080948 ; owl:annotatedTarget "A syndrome that is characterized by characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/ency/article/000323.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080949 ; owl:annotatedTarget "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30723320/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080950 ; owl:annotatedTarget "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17451405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080951 ; owl:annotatedTarget "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33355142/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080952 ; owl:annotatedTarget "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27843125/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080953 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis"^^xsd:string, "url:https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080954 ; owl:annotatedTarget "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080956 ; owl:annotatedTarget "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080957 ; owl:annotatedTarget "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29396262/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080958 ; owl:annotatedTarget "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28280076/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080959 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/3150442/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080960 ; owl:annotatedTarget "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28067412/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080962 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31250547/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080963 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080964 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14872410/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080965 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080966 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080967 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080968 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080969 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080970 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080971 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080972 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080973 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080974 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080975 ; owl:annotatedTarget "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27297971/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080976 ; owl:annotatedTarget "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30455415/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080977 ; owl:annotatedTarget "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28318499/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080978 ; owl:annotatedTarget "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27782104/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080979 ; owl:annotatedTarget "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31960134/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080980 ; owl:annotatedTarget "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29053766/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080981 ; owl:annotatedTarget "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15508018/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080982 ; owl:annotatedTarget "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21739600/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080984 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1349231"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2574903"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2902106"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050201 ; owl:annotatedTarget "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure."^^xsd:string . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/lujan-syndrome/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1676/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080985 ; owl:annotatedTarget "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27745832/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080986 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27745832/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080987 ; owl:annotatedTarget "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7738360/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080988 ; owl:annotatedTarget "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1146/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080990 ; owl:annotatedTarget "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11731287/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080991 ; owl:annotatedTarget "A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080992 ; owl:annotatedTarget "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27112680/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080994 ; owl:annotatedTarget "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction."^^xsd:string . [] oboInOwl:hasDbXref "url:https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080995 ; owl:annotatedTarget "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080996 ; owl:annotatedTarget "A diffuse kage B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080997 ; owl:annotatedTarget "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28381378/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080998 ; owl:annotatedTarget "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0080999 ; owl:annotatedTarget "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21177507/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081000 ; owl:annotatedTarget "A Cowden syndrome that has_material_ basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23246288/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081001 ; owl:annotatedTarget "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/19478873"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050202 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23246288/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081002 ; owl:annotatedTarget "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26522472/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081003 ; owl:annotatedTarget "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29475959/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081004 ; owl:annotatedTarget "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25648063/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081005 ; owl:annotatedTarget "A vegetable allergy triggered by parsley (Petroselinum)." . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10831013/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081006 ; owl:annotatedTarget "A food allergy triggered by dill (Anethum graveolens)." . [] oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081007 ; owl:annotatedTarget "A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment." . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27523599/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081008 ; owl:annotatedTarget "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21." . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Cytomegalovirus"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4300216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050203 ; owl:annotatedTarget "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24290075/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081009 ; owl:annotatedTarget "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23." . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27008867/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081010 ; owl:annotatedTarget "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22." . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27486776/" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0081011 ; owl:annotatedTarget "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21." . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090001 ; owl:annotatedTarget "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/tietz-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13985019"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8589691"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090002 ; owl:annotatedTarget "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12368912"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12838516"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090003 ; owl:annotatedTarget "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15215498"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15601861"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6807993"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090004 ; owl:annotatedTarget "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11941538"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1552548"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18647752"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090005 ; owl:annotatedTarget "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10466411"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7795640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090006 ; owl:annotatedTarget "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17893117"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090007 ; owl:annotatedTarget "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10647011"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17893117"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090008 ; owl:annotatedTarget "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21596365"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090009 ; owl:annotatedTarget "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090010 ; owl:annotatedTarget "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090011 ; owl:annotatedTarget "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11336668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090012 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1940786"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090013 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9068311"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9843216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090014 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9989796"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040010 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger mepivacaine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18978656"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20381006"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6279340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090015 ; owl:annotatedTarget "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18202658"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19898489"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25920683"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090016 ; owl:annotatedTarget "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2662909"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8696340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090017 ; owl:annotatedTarget "An syndrome characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10199409"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7156325"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090018 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11099417"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11138003"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090019 ; owl:annotatedTarget "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12668597"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7802032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090020 ; owl:annotatedTarget "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24496061"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7616545"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090021 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16711324"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17602362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050204 ; owl:annotatedTarget "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10364522"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090022 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10839977"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090023 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jcp.bmj.com/content/46/10/968.full.pdf"^^xsd:string, "url:http://www.jstor.org/stable/20396832"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16597901"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7006542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050205 ; owl:annotatedTarget "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22121204"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090024 ; owl:annotatedTarget "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7550869"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050207 ; owl:annotatedTarget "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14699611"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090025 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24."^^xsd:string . [] oboInOwl:hasDbXref "url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050208 ; owl:annotatedTarget "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18515319"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090026 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15617554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090027 ; owl:annotatedTarget "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2298915"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7719340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090028 ; owl:annotatedTarget "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17068034"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3417236"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050209 ; owl:annotatedTarget "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032915"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7252669"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090029 ; owl:annotatedTarget "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10634411"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7061486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090030 ; owl:annotatedTarget "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency"^^xsd:string, "url:https://www.omim.org/entry/261515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090031 ; owl:annotatedTarget "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/HSPG2#conditions"^^xsd:string, "url:https://www.omim.org/entry/224410"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090032 ; owl:annotatedTarget "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Myoclonic_dystonia"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090033 ; owl:annotatedTarget "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050210 ; owl:annotatedTarget "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string, "url:https://www.omim.org/entry/159900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090034 ; owl:annotatedTarget "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string, "url:https://www.omim.org/entry/607488"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090035 ; owl:annotatedTarget "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string, "url:https://www.omim.org/entry/616398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090036 ; owl:annotatedTarget "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11261511"^^xsd:string, "url:https://www.omim.org/entry/607671"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090037 ; owl:annotatedTarget "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25799108"^^xsd:string, "url:https://www.omim.org/entry/224500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090038 ; owl:annotatedTarget "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dystonia-6"^^xsd:string, "url:https://www.omim.org/entry/602629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090039 ; owl:annotatedTarget "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23596437"^^xsd:string, "url:https://www.omim.org/entry/602124"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090040 ; owl:annotatedTarget "A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29127012"^^xsd:string, "url:https://www.omim.org/entry/128101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090041 ; owl:annotatedTarget "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23596437"^^xsd:string, "url:https://www.omim.org/entry/612406"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090042 ; owl:annotatedTarget "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1508/"^^xsd:string, "url:https://www.omim.org/entry/128230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090043 ; owl:annotatedTarget "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1430/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30616884"^^xsd:string, "url:https://www.omim.org/entry/601042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090044 ; owl:annotatedTarget "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26336901"^^xsd:string, "url:https://www.omim.org/entry/612126"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090045 ; owl:annotatedTarget "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21301909"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29770609"^^xsd:string, "url:https://www.omim.org/entry/614588"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090046 ; owl:annotatedTarget "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3."^^xsd:string . [] oboInOwl:hasDbXref "url:http://purl.org/dc/terms/license" ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource terms:license ; owl:annotatedTarget "License."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20425035"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22454269"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090047 ; owl:annotatedTarget "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28283962"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29279192"^^xsd:string, "url:https://www.omim.org/entry/612067"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090048 ; owl:annotatedTarget "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28090678"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090049 ; owl:annotatedTarget "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26004199"^^xsd:string, "url:https://www.omim.org/entry/616411"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090050 ; owl:annotatedTarget "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25296916"^^xsd:string, "url:https://www.omim.org/entry/614860"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090051 ; owl:annotatedTarget "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30455893"^^xsd:string, "url:https://www.omim.org/entry/615034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090052 ; owl:annotatedTarget "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia"^^xsd:string, "url:https://www.omim.org/entry/128200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090053 ; owl:annotatedTarget "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia"^^xsd:string, "url:https://www.omim.org/entry/611031"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090054 ; owl:annotatedTarget "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28283962"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30660597"^^xsd:string, "url:https://www.omim.org/entry/615073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090055 ; owl:annotatedTarget "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism"^^xsd:string, "url:https://www.omim.org/entry/128235"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090056 ; owl:annotatedTarget "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism"^^xsd:string, "url:https://www.omim.org/entry/314250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090057 ; owl:annotatedTarget "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8916165"^^xsd:string, "url:https://www.omim.org/entry/602554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090058 ; owl:annotatedTarget "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30900587"^^xsd:string, "url:https://www.omim.org/entry/268100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090059 ; owl:annotatedTarget "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30906465"^^xsd:string, "url:https://www.omim.org/entry/226980"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090060 ; owl:annotatedTarget "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome"^^xsd:string, "url:https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090061 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11687797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090062 ; owl:annotatedTarget "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18230725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090063 ; owl:annotatedTarget "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22236196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090064 ; owl:annotatedTarget "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25385754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090065 ; owl:annotatedTarget "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4692131"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090066 ; owl:annotatedTarget "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28917830"^^xsd:string, "url:https://www.omim.org/entry/228930"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090067 ; owl:annotatedTarget "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30709364"^^xsd:string, "url:https://www.omim.org/entry/256850"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090068 ; owl:annotatedTarget "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24500646"^^xsd:string, "url:https://www.omim.org/entry/610100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090069 ; owl:annotatedTarget "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17761590"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090070 ; owl:annotatedTarget "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19079066"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090071 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19535795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090072 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22335740"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090073 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14573733"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090074 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21700882"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090075 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090076 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18559922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090077 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17235395"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9371856"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090078 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090079 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22416012"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22927827"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090080 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25192046"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090081 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/flu/swineflu/key_facts.htm"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9140195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050211 ; owl:annotatedTarget "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090082 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12627230"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20696889"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090083 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18834967"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090084 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15362570"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17235395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090085 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18596921"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090086 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17846438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050212 ; owl:annotatedTarget "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20887964"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090087 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8220432"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9271483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090088 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19079066"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090089 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090090 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1727547"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22723313"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090091 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm"^^xsd:string, "url:http://www.jstor.org/stable/pdfplus/30113106.pdf"^^xsd:string, "url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050213 ; owl:annotatedTarget "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18559922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090092 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090093 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1594017"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16882753"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090094 ; owl:annotatedTarget "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ocular-albinism"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28356565"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29531335"^^xsd:string, "url:https://www.omim.org/entry/103470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090100 ; owl:annotatedTarget "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11994495"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040011 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger phenobarbital."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/PRKAG2#conditions"^^xsd:string, "url:https://www.omim.org/entry/261740"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090101 ; owl:annotatedTarget "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27291889"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27905099"^^xsd:string, "url:https://www.omim.org/entry/613112"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090102 ; owl:annotatedTarget "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome"^^xsd:string, "url:https://www.omim.org/entry/603218"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090103 ; owl:annotatedTarget "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome"^^xsd:string, "url:https://www.omim.org/entry/606438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090104 ; owl:annotatedTarget "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hypercholesterolemia"^^xsd:string, "url:https://www.omim.org/entry/603813"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090105 ; owl:annotatedTarget "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency"^^xsd:string, "url:https://www.omim.org/entry/261640"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090106 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050214 ; owl:annotatedTarget "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string, "url:https://www.omim.org/entry/601198"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090107 ; owl:annotatedTarget "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string, "url:https://www.omim.org/entry/615361"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090108 ; owl:annotatedTarget "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27803672"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090109 ; owl:annotatedTarget "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome"^^xsd:string, "url:https://www.omim.org/entry/304790"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090110 ; owl:annotatedTarget "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/gene/SOX10#conditions"^^xsd:string, "url:https://www.omim.org/entry/609136"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090111 ; owl:annotatedTarget "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html"^^xsd:string, "url:http://www.springerlink.com/content/pg45520138llh128/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050215 ; owl:annotatedTarget "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30042649"^^xsd:string, "url:https://www.omim.org/entry/221770"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090112 ; owl:annotatedTarget "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29255463"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30122534"^^xsd:string, "url:https://www.omim.org/entry/611943"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090113 ; owl:annotatedTarget "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26077580"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26239453"^^xsd:string, "url:https://www.omim.org/entry/136900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090114 ; owl:annotatedTarget "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090115 ; owl:annotatedTarget "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29566257"^^xsd:string, "url:https://www.omim.org/entry/272460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090116 ; owl:annotatedTarget "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jstor.org/stable/pdfplus/30112755.pdf"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8501338"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050216 ; owl:annotatedTarget "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1282/"^^xsd:string, "url:https://www.omim.org/entry/249270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090117 ; owl:annotatedTarget "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29191945"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29384262"^^xsd:string, "url:https://www.omim.org/entry/604498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090118 ; owl:annotatedTarget "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29339502"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29956718"^^xsd:string, "url:https://www.omim.org/entry/106260"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090119 ; owl:annotatedTarget "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25189721"^^xsd:string, "url:https://www.omim.org/entry/162830"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090120 ; owl:annotatedTarget "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome"^^xsd:string, "url:https://www.omim.org/entry/139300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090122 ; owl:annotatedTarget "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm"^^xsd:string, "url:http://www0.nih.go.jp/JJID/61/438.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050217 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency"^^xsd:string, "url:https://www.omim.org/entry/608643"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090123 ; owl:annotatedTarget "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28317099"^^xsd:string, "url:https://www.omim.org/entry/208100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090124 ; owl:annotatedTarget "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/familial-porencephaly"^^xsd:string, "url:https://www.omim.org/entry/175780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090125 ; owl:annotatedTarget "A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24449431"^^xsd:string, "url:https://www.omim.org/entry/614901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090126 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29397575"^^xsd:string, "url:https://www.omim.org/entry/208250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090127 ; owl:annotatedTarget "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair"^^xsd:string, "url:https://www.omim.org/entry/605676"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090128 ; owl:annotatedTarget "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency"^^xsd:string, "url:https://www.omim.org/entry/255120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090129 ; owl:annotatedTarget "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27439707"^^xsd:string, "url:https://www.omim.org/entry/610042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090130 ; owl:annotatedTarget "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20829227"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090131 ; owl:annotatedTarget "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/polymicrogyria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30016746"^^xsd:string, "url:https://www.omim.org/entry/610031"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090132 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050218 ; owl:annotatedTarget "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29048727"^^xsd:string, "url:https://www.omim.org/entry/615282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090133 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29077851"^^xsd:string, "url:https://www.omim.org/entry/615411"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090134 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string, "url:https://www.omim.org/entry/615763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090135 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30936767"^^xsd:string, "url:https://www.omim.org/entry/615771"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090136 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30016746"^^xsd:string, "url:https://www.omim.org/entry/614039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090137 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string, "url:https://www.omim.org/entry/615412"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090138 ; owl:annotatedTarget "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22476103"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090139 ; owl:annotatedTarget "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29843121"^^xsd:string, "url:https://www.omim.org/entry/614662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090140 ; owl:annotatedTarget "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hepeviridae"^^xsd:string, "url:http://www.expasy.org/viralzone/all_by_species/41.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050219 ; owl:annotatedTarget "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29843121"^^xsd:string, "url:https://www.omim.org/entry/604931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090141 ; owl:annotatedTarget "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20584029"^^xsd:string, "url:https://www.omim.org/entry/219500"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090142 ; owl:annotatedTarget "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30887145"^^xsd:string, "url:https://www.omim.org/entry/601216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090143 ; owl:annotatedTarget "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome"^^xsd:string, "url:https://www.omim.org/entry/222448"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090144 ; owl:annotatedTarget "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Q_fever"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15021054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050220 ; owl:annotatedTarget "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency"^^xsd:string, "url:https://www.omim.org/entry/223360"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0090145 ; owl:annotatedTarget "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16055927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110000 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22683713"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110001 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12434311/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110002 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25597510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110003 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050221 ; owl:annotatedTarget "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11668429"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12126933"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110004 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22842230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110005 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21646875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110006 ; owl:annotatedTarget "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11536077"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9662398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110007 ; owl:annotatedTarget "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10888875"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17265047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110008 ; owl:annotatedTarget "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/IgM"^^xsd:string, "url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050222 ; owl:annotatedTarget "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26029869"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26063662"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110009 ; owl:annotatedTarget "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15800623"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110012 ; owl:annotatedTarget "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26903630"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110013 ; owl:annotatedTarget "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15761120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110017 ; owl:annotatedTarget "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15028672"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110018 ; owl:annotatedTarget "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17053108"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110019 ; owl:annotatedTarget "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17210852"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110020 ; owl:annotatedTarget "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24036952"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110021 ; owl:annotatedTarget "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14691731"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15829498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110022 ; owl:annotatedTarget "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11815350"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25893795"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110023 ; owl:annotatedTarget "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15208270"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17909628"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110024 ; owl:annotatedTarget "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23685748"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110025 ; owl:annotatedTarget "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16518403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110026 ; owl:annotatedTarget "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050225 ; owl:annotatedTarget "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24036952"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110027 ; owl:annotatedTarget "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16754848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110028 ; owl:annotatedTarget "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15921166"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18076105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110029 ; owl:annotatedTarget "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12393486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110031 ; owl:annotatedTarget "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11044206"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110032 ; owl:annotatedTarget "An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25575550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110033 ; owl:annotatedTarget "An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2349482"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110034 ; owl:annotatedTarget "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8346443"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110035 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19136949"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110036 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050227 ; owl:annotatedTarget "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9333264"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110037 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16385451"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110038 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11443525"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110039 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1303290"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7596406"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110042 ; owl:annotatedTarget "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16175510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110043 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050228 ; owl:annotatedTarget "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18761660"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110044 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1."^^xsd:string . 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[] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17564960"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110047 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17564960"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110048 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23150934"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110049 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19608551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110050 ; owl:annotatedTarget "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24336208"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25832408"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110051 ; owl:annotatedTarget "An Alzheimer's disease that is characterized by associated variants of the gene PLD3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11487571"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110052 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/217485-overview"^^xsd:string, "url:http://www.jstor.org/stable/pdfplus/30112505.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050229 ; owl:annotatedTarget "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15666299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110053 ; owl:annotatedTarget "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23632796"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23958762"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110054 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252228"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18484629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110055 ; owl:annotatedTarget "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14684688"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110056 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15235027"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23355523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110057 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Intestinal_capillariasis"^^xsd:string, "url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050230 ; owl:annotatedTarget "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta"^^xsd:string, "url:https://www.omim.org/entry/301200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110058 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1358807"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110059 ; owl:annotatedTarget "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15744043"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110060 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19853237"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110061 ; owl:annotatedTarget "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22901946"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110062 ; owl:annotatedTarget "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Capillaria_hepatica"^^xsd:string, "url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050231 ; owl:annotatedTarget "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23375655"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110063 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24305999"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24319098"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110064 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24858907"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110065 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23468644"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24196488"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110066 ; owl:annotatedTarget "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5692341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110067 ; owl:annotatedTarget "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22084127"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110068 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050232 ; owl:annotatedTarget "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25700176"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110069 ; owl:annotatedTarget "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15639475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110070 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11159936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110071 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8824801"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110072 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9344647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110073 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040012 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger phenytoin."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050233 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18313022"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110074 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10631146"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110075 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12373648"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110076 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15489853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110077 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8944027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110078 ; owl:annotatedTarget "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acanthamoeba"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050234 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11231775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110079 ; owl:annotatedTarget "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17186464"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110080 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16505173"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17105751"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110081 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alveolata"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050235 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17033975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110082 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17924338/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110083 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23136403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110084 ; owl:annotatedTarget "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20503315"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110085 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17468754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110086 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25."^^xsd:string . [] oboInOwl:hasDbXref "url:http://tolweb.org/Heterolobosea/96360"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050236 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19442771"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110087 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21258341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110088 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22019273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110089 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17935248"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21473986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110090 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24140113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110091 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Euglenozoa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050237 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21211617"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22499340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110092 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25361962"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110093 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23910462"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110094 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24183449"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110095 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26166481"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110096 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parabasalid"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050238 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22503633"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110097 ; owl:annotatedTarget "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16912508"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110098 ; owl:annotatedTarget "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11279517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110099 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 20p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11279517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110100 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11069631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110101 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 13q12-q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11069631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110102 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 5q31-q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19349984"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110103 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 11q13.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19517137"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110104 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 4q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19517137"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110105 ; owl:annotatedTarget "An atopic dermatitis associated with variation in the region 3p24."^^xsd:string . [] oboInOwl:hasDbXref "url:http://tolweb.org/Fornicata/121182"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050239 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9610535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110106 ; owl:annotatedTarget "An atrial heart septal defect type 1 associated with variation in the region 5p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12845333"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110107 ; owl:annotatedTarget "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15735645"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110108 ; owl:annotatedTarget "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17668378"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110109 ; owl:annotatedTarget "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17947298"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110110 ; owl:annotatedTarget "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18830233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110111 ; owl:annotatedTarget "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trichomonad"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050240 ; owl:annotatedTarget "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9651244"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110112 ; owl:annotatedTarget "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16287139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110113 ; owl:annotatedTarget "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20631719"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110114 ; owl:annotatedTarget "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16446975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110115 ; owl:annotatedTarget "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12353035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110116 ; owl:annotatedTarget "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050241 ; owl:annotatedTarget "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24240292/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110117 ; owl:annotatedTarget "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21763485"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110118 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23319571"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23666743"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110119 ; owl:annotatedTarget "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8944018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110120 ; owl:annotatedTarget "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8751862"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110121 ; owl:annotatedTarget "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9792859"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110122 ; owl:annotatedTarget "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20177705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110123 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16823392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110124 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15314642"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110125 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11381270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110126 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15137946"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110127 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10973238"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10973251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110128 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12567324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110129 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14520415"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16308660"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110130 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16380913"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110131 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16582908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110132 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16606853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110133 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17160889"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19797195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110134 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18327255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110135 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18327255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110136 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20671153"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110137 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20835237"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22626039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110138 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510444"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23692385"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110139 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24026985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110140 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24488770"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110141 ; owl:annotatedTarget "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9355073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110142 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9326936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110143 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9326936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110144 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11687798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110145 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15044642"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110146 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27120771"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110147 ; owl:annotatedTarget "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1677316"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21326314"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110148 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12566280"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110149 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9537424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110150 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12525712"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110151 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7693129"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110152 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10330345"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110153 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11389829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110154 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15064763"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19889647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110155 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11799477"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110156 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10071056"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110157 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10071056"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110158 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12545426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110159 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26991897"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110160 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050242 ; owl:annotatedTarget "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23562820"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25893792"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110161 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22930593"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110162 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15122254"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110163 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12690580"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110164 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10841809"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17620486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110165 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Apicomplexa"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050243 ; owl:annotatedTarget "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11166163"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110166 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12707075"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110167 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25125609"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110168 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20865121"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110169 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Coccidia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050244 ; owl:annotatedTarget "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23141294"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110170 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25439726"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110171 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23729695"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110173 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15565283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110174 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110175 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aconoidasida"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050245 ; owl:annotatedTarget "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26556829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110176 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20045102"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110177 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25818867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110178 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19290556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110179 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27040688"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110180 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26497905"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110181 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20037588"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110182 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14574644"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110183 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17572665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110184 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11743579"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110185 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7782125"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040013 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger ranitidine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050246 ; owl:annotatedTarget "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10831399"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110186 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24027061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110187 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17011878"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110188 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15024725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110189 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Stramenopiles"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050247 ; owl:annotatedTarget "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12554688"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110190 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10802647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110191 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15744041"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17564959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110192 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11157804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110193 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23749797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110194 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brugia_timori"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050249 ; owl:annotatedTarget "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15184631"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9537424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110195 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19536174"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110196 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15731758"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110197 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23777631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110198 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16429158"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110199 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10406984"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110200 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12499475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110201 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11533914"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110202 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25152455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110203 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20920668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110204 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050250 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22187985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110205 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23434117"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110206 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23297365"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110207 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1557086"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110208 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8266101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110209 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15955956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110210 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1557086"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1674639"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110211 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23217327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110212 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7143384"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110213 ; owl:annotatedTarget "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110214 ; owl:annotatedTarget "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17546029"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110215 ; owl:annotatedTarget "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16384941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110216 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23307924"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110217 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9521325"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110218 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17967977"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110219 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17224476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110220 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17224476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110221 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18464934"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110222 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19122847"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110223 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20031595"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110224 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19165230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110225 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21349352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110226 ; owl:annotatedTarget "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6694185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110227 ; owl:annotatedTarget "A cataract that has_material_basis_in mutation in the region 14q22-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7607651"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110228 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 1pter-p36.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19005574"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110229 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17893665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110230 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9497259"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110231 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15933805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110232 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 2pter-p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12091400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110233 ; owl:annotatedTarget "A cataract that has_material_basis_in mutation in the region 2p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9927684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110234 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10521291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110235 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23288985"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110236 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34."^^xsd:string . [] oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23508780/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110237 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35."@en . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21636066"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110238 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10729115"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110239 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16141006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110240 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23531866"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110241 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11739194"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110242 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Coenurosis"^^xsd:string, "url:https://www.cdc.gov/dpdx/coenurosis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050251 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26788539"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110243 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15452352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110244 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 6p12-q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22415731"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110245 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11179024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110246 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 9q13-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21436445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110247 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19126778"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110248 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Dipylidium_caninum"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050252 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9620774"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110249 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11577372"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110250 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10802646"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110251 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21731060"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110252 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9199569"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110253 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11133359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110254 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 15q21-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12089525"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110255 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11772997"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110256 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8852669"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110257 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7573044"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110258 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24549050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110259 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7704021"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110260 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 17q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15671291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110261 ; owl:annotatedTarget "A cataract that has_material_basis_in variation in the region 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25804400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110262 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11917274"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110263 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17225135"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110264 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17701905"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110265 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26867756"^^xsd:string, "url:https://www.omim.org/entry/604219"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110266 ; owl:annotatedTarget "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26200341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110267 ; owl:annotatedTarget "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15914629"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110268 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9158139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110269 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12360425"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110270 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16960806"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110271 ; owl:annotatedTarget "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050253 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15370543"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110272 ; owl:annotatedTarget "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3275904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110273 ; owl:annotatedTarget "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13810212"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110274 ; owl:annotatedTarget "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7720071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110275 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9731527"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110276 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7481775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110277 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30055862"^^xsd:string, "url:https://www.omim.org/entry/608099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110278 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7581448"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110279 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8841194"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110280 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10655062"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110281 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11822024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110282 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12145747"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110283 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20096397"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110284 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21109228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110285 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23830518"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110287 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25589244"^^xsd:string, "url:https://www.omim.org/entry/616827"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110288 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24856141"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110289 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26642364"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110290 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16909394"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110291 ; owl:annotatedTarget "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18195152"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110292 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21388311"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110293 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23768512"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110294 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23390185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110295 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17044012"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110296 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15792865"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110297 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2265088"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040014 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger corticosteroid."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17878207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110298 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11592034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110299 ; owl:annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20068593"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110303 ; owl:annotatedTarget "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23543484"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23667635"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110304 ; owl:annotatedTarget "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22334415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110305 ; owl:annotatedTarget "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24647604"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110306 ; owl:annotatedTarget "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1975517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110307 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8205619"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110308 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8205619"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110309 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7493025"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7493026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110310 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16651466"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110311 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11586962"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110312 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9241277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110313 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8673105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110314 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10462489"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110315 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8673105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110316 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10330430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110317 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12642359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110318 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11385718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110319 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11815426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110320 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16712796"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110321 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17347475"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110322 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17509612"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110323 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12705874"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110324 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20970104"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110326 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25351925"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110327 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15582318"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110328 ; owl:annotatedTarget "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11283794"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110329 ; owl:annotatedTarget "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.cdc.gov/dpdx/acanthocephaliasis/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050254 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15258582"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110330 ; owl:annotatedTarget "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19268277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110331 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10615133"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110332 ; owl:annotatedTarget "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050255 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9537410"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110333 ; owl:annotatedTarget "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2873381"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110334 ; owl:annotatedTarget "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7241530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110335 ; owl:annotatedTarget "An osteogenesis imperfecta found in a single South African family."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17277775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110336 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17055431"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110337 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26027498"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110338 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2794057"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9099837"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110339 ; owl:annotatedTarget "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2745420"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2897363"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110340 ; owl:annotatedTarget "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3722184"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6304100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110341 ; owl:annotatedTarget "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22052668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110342 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23054245"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110343 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22863190"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110344 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24079343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110345 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20188343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110346 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23499309"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110347 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20579626"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110348 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19781681"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110349 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21353196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110350 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20362275"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110351 ; owl:annotatedTarget "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21295283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110352 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9326941"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110353 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9425888"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110354 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16189710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110355 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11773002"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110356 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16199541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110357 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10508521"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110358 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24043777"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110359 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12427073"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110360 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26720455"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110361 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20227676"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110362 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25168386"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110363 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20398886"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110364 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20705278"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110365 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19878916"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110366 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11062461"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110367 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14681825"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110368 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9565049"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110369 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19956407"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110370 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20673862"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110371 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2137202"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110372 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21310491"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110373 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24670872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110374 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8394174"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110375 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10587575"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110376 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7479749"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110377 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11381043"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110378 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7493036"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110379 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21825139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110380 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9462751"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110381 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15452722"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110382 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Angiostrongyliasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050256 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1749427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110383 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18836446"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110384 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22083234"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110385 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19520207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110386 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050258 ; owl:annotatedTarget "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032732"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110387 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11875050"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110388 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25859010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110389 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10391211"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110390 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17924349"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110391 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24419317"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110392 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19074801"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110393 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10581022"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110394 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25882705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110395 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19853238"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110396 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10192380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110397 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20451172"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110398 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17564971"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110399 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9545639"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110400 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25541840"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110401 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11379879"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110402 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11468273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110403 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15090652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110404 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16938425"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110405 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14609921"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110406 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20655036"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110407 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11545739"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110408 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18806796"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110409 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24680887"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110410 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21549338"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110411 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22619378"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110412 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2300556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110413 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8673101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110414 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9697692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110415 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10690843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110416 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16740911"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110417 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7493160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110418 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23849777"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110419 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3618160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110420 ; owl:annotatedTarget "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2434548"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040015 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger sulfonamide."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1424244"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110421 ; owl:annotatedTarget "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3189470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110422 ; owl:annotatedTarget "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14662268"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110423 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19881492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110424 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10580070"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110425 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11106718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110426 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17186461"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110427 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14567970"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110428 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10486326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110429 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11788824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110430 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10430757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110431 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24777450"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110432 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15466643"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110433 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15542288"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110434 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20551992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110435 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10974018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110436 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11085912"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110437 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17646580"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110438 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12610310"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110439 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15735644"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110440 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21965549"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110441 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16228230"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110442 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7573045"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110443 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Baylisascaris"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050259 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17036286"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110444 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18006477"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110445 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11815424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110446 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19712804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110447 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21353195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110448 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12507422"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14567970"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110449 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16483541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110450 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15034580"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110451 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16247757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110452 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15998695"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110453 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11106718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110454 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17186461"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110455 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17611253"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110456 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11273725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110457 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18678517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110458 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19590045"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110459 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15070570"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110460 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29901616"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8361506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110461 ; owl:annotatedTarget "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24619944"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110462 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24741995"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110463 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24781754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110464 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24958875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110465 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11090341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110467 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9781028"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110468 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9887371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110469 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21326233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110470 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11687802"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110471 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15293785"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110472 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12136232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110473 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23122587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110474 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9139825"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110475 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11807148"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110476 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9171833"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110477 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#SubsetProperty"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:SubsetProperty ; owl:annotatedTarget "Subset property, name of subet."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10196710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110478 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9949200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110479 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11972037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110480 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14570705"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110481 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17226784"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110482 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20137778"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110483 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11101839"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110484 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11175289"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110485 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16385458"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110486 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11163249"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110487 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050260 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17851452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110488 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032315"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110489 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12833159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110490 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27259055/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12634867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110491 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affeted men that has_material_basis_in mutation in CDC14A on chromosome 1p21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12080392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110492 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18179891"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110493 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15286153"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110494 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12687499"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110495 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12890929"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110496 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19576567"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110497 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050261 ; owl:annotatedTarget "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9500541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110498 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14512974"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110499 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21255762"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110500 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482543"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110501 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18325041"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110502 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15637723"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110503 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16261342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110504 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23023331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110505 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18084694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110506 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8944017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110507 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Flatworm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050262 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16158433"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110508 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16033917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110509 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16098016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110510 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17301963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110511 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12145746"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110512 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12719379"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110513 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16650082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110514 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18953341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110515 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16596430"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110516 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25601850"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110517 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Body_cavity"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050263 ; owl:annotatedTarget "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16459341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110518 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26805784"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110519 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11850618"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110520 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23084290"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110521 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19229252"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110522 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21185009"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110523 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23348741"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110524 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19732867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110525 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20170899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110526 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11137999"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110527 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Acanthocephala"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050264 ; owl:annotatedTarget "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss"^^xsd:string, "url:https://www.omim.org/entry/613685"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110528 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20346435"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110529 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23122586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110530 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19888295"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110531 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24387994"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110532 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24039609"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110533 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23768514"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110534 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10192385"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110535 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20451170"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110536 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22981119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110537 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Tungiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050266 ; owl:annotatedTarget "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21937999"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110538 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25941349"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110539 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22678063"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110540 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9360932"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110541 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11159937"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110542 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9354784"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110543 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9590290"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110544 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10581026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110545 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9506947"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110546 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10364526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110547 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11023810"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110548 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11313754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110549 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13680526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110550 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10764236"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110551 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11468689"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110552 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15141091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110553 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10739769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110554 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18674745"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110555 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18279434"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110556 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12393799"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110557 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Myiasis"^^xsd:string, "url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050268 ; owl:annotatedTarget "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10025409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110558 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9843210"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110559 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11571554"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110560 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11559344"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110561 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19183916"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110562 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11850618"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110563 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9139825"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110564 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10471490"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110565 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12471561"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110566 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24211385"^^xsd:string, "url:https://www.omim.org/entry/608224"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110567 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12676899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110568 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17503326"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110569 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12634859"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110570 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12736868"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110571 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14627674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110572 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15015131"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110573 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21368133"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110574 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29849037"^^xsd:string, "url:https://www.omim.org/entry/600994"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110575 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19363479"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110576 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040016 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger sulfamethoxazole."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20602916"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110577 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18312703"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110578 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15958501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110579 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15490091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110580 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23936043"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110581 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19159392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110582 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19030898"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110583 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11709537"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11709538"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110584 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21722859"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110585 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24729539"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24729547"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110586 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26197441"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110587 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25077649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110588 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25816005"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110589 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26522471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110590 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8842739"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110591 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26196677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110592 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9806553"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110593 ; owl:annotatedTarget "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10577904"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110594 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25564561"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110595 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23354437"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110596 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23891469"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23891471"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110597 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21131972"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110598 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11788826"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110599 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24747639"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110600 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19200523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110601 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19200523"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110602 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26073779"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110603 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23040496"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110604 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18022865"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110605 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17360648"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110606 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24055112"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110607 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23122589"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110608 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23849778"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110609 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27486783"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110610 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24094744"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110611 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19052621"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110612 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21496787"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110613 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14985390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110614 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23872636"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110615 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18270537"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110616 ; owl:annotatedTarget "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23022101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110617 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19944400"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110618 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26387594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110619 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27486780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110620 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22581229"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110621 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18950741"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110622 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21131974"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110623 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25192045"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110624 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23261303"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110625 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22387996"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110626 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24094744"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110627 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23993197"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110628 ; owl:annotatedTarget "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21538838"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110629 ; owl:annotatedTarget "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25056293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110630 ; owl:annotatedTarget "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13942250"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110631 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16371353"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21665002"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110632 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11528383"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12192640"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15122708"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110633 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10677302"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110634 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11592034"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14652796"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110635 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24611677"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7550355"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110636 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12966029"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19067344"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110637 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1483054"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15886997"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110638 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9590299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110639 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15148145"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18551513"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110640 ; owl:annotatedTarget "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17192539"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110644 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7889573"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110645 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Trichomoniasis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050269 ; owl:annotatedTarget "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8541846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110646 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10973849"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110647 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10219239"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110648 ; owl:annotatedTarget "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17060380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110650 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17592081"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110651 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18093912"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110652 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19684871"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110653 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20560207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110654 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24076290"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110655 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23388215"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110656 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19631309"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22205389"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110657 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23404334"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110658 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25192047"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110659 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12467753"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21310273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110660 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27569547"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110661 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10195214"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15079006"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110662 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7619526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110663 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050270 ; owl:annotatedTarget "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16916845"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110664 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11435464"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110665 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascomycota"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050271 ; owl:annotatedTarget "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11782989"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110666 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110667 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16917026"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110668 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Basidiomycota"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050272 ; owl:annotatedTarget "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23404334"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24461433"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110669 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15496425"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110670 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050273 ; owl:annotatedTarget "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11172068"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12756141"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110671 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20123977"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27590285"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110672 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26626625"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110673 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050274 ; owl:annotatedTarget "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24234652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110674 ; owl:annotatedTarget "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12651869"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110675 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16870884"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22742743"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110676 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/509935"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040017 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger suprofen."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Onychomycosis"^^xsd:string, "url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050275 ; owl:annotatedTarget "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8755487"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110677 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12141316"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7531341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110678 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascomycota"^^xsd:string, "url:http://en.wikipedia.org/wiki/Mycosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050276 ; owl:annotatedTarget "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8957026"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110679 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10562302"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110680 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050277 ; owl:annotatedTarget "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8872460"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110681 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766226"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110682 ; owl:annotatedTarget "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25381298"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110683 ; owl:annotatedTarget "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050278 ; owl:annotatedTarget "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10878665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110698 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12754508"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110699 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21188418"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110700 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19122663"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110701 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16185270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110702 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050279 ; owl:annotatedTarget "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12891384"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110703 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20393562"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110704 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18297072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110705 ; owl:annotatedTarget "A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20054564"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110706 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20544222"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110707 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascomycota"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050280 ; owl:annotatedTarget "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23246290"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110708 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21412954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110709 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22592156"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110710 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11544476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110711 ; owl:annotatedTarget "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Basidiomycota"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050281 ; owl:annotatedTarget "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15234147"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7670478"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110712 ; owl:annotatedTarget "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7670478"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9020843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110713 ; owl:annotatedTarget "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22190596"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110714 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8673138"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110715 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20512159"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110716 ; owl:annotatedTarget "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascomycota"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050282 ; owl:annotatedTarget "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20967465"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110717 ; owl:annotatedTarget "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15216543"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110718 ; owl:annotatedTarget "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24239381"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110719 ; owl:annotatedTarget "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820099"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22073189"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110720 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7637805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110721 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17564970"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110722 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28."^^xsd:string . [] oboInOwl:hasDbXref "url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf"^^xsd:string, "url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050283 ; owl:annotatedTarget "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15024724"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15074367"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110723 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8014963"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8743986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110724 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16685649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110725 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18684116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110726 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23297359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110727 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ascomycota"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050284 ; owl:annotatedTarget "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9662406"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110728 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15996215"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110729 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21549341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110730 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/cln3-disease"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7553855"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110731 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22608501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110732 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15349861"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110733 ; owl:annotatedTarget "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Basidiomycota"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050285 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/11899/index"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18981035"^^xsd:string, "url:https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110734 ; owl:annotatedTarget "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "OMIM:256600"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18443314"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110735 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18799783"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110736 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16116125"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110737 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23269600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110738 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050286 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23176820"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110739 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24360804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110740 ; owl:annotatedTarget "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6363172"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110741 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7842018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110742 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9683605"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110743 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15247916"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110744 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9215667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110745 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7704030"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110746 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Microsporidia"^^xsd:string, "url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050287 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7573053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110747 ; owl:annotatedTarget "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8072542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110749 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8617492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110750 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8817351"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110751 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8650584"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110752 ; owl:annotatedTarget "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8981961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110753 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9788970"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110754 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11175794"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110755 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16699517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110756 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9313763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110757 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19073967"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110758 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19073967"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110759 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8072542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110760 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19430480"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110761 ; owl:annotatedTarget "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12355402"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110763 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17322883"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110764 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22232211"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110765 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11898127"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110766 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10877981"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110767 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18394578"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110768 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9254866"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110769 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14981520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110770 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050288 ; owl:annotatedTarget "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21330303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110771 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12112072"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110772 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8012387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110773 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14681889"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110774 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12499481"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110775 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12070243"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110776 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23746551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110777 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15455396"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110778 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23176821"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110779 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16130112"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110780 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14748803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050289 ; owl:annotatedTarget "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21487076"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110781 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16826527"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110782 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17515546"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110783 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16826525"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110784 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12210342"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110785 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19068277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110786 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19357379"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110787 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17605047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110788 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18401025"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110789 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18313024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110790 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Trichosporonosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050290 ; owl:annotatedTarget "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11685207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110791 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9302257"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110792 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18364116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110793 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040018 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger thiopental."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Mesomycetozoea"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050291 ; owl:annotatedTarget "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19061983"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110794 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23857908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110795 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19056803"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110796 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110797 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23332916"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110798 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22290197"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110799 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20613862"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110800 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23176824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110801 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK535153/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19559397"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110802 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20972249"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110803 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050292 ; owl:annotatedTarget "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110804 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22717650"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110805 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23176823"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110806 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23188110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110807 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23176821"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110808 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050293 ; owl:annotatedTarget "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23479643"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110809 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110810 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14508710"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110811 ; owl:annotatedTarget "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110812 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf"^^xsd:string, "url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050294 ; owl:annotatedTarget "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110813 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110814 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110815 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9635427"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110816 ; owl:annotatedTarget "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24388663"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110817 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/"^^xsd:string, "url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050295 ; owl:annotatedTarget "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25751282"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110818 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25609768"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110819 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110820 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27153400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110821 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26553276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110822 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Asfarviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050296 ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17160902"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110823 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26026163"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110824 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26026163"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110825 ; owl:annotatedTarget "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1265/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110826 ; owl:annotatedTarget "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1341/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9624053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110827 ; owl:annotatedTarget "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8864816"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110828 ; owl:annotatedTarget "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Adenoviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050298 ; owl:annotatedTarget "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10090882"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110829 ; owl:annotatedTarget "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10973247"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110830 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11138009"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110831 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11398101"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110832 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9002666"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110833 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Simplexvirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050299 ; owl:annotatedTarget "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12588794"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110834 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18505454"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110835 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23023331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110836 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22718019"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110837 ; owl:annotatedTarget "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9624053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110838 ; owl:annotatedTarget "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Deltavirus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050300 ; owl:annotatedTarget "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14740321"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110839 ; owl:annotatedTarget "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17171570"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110840 ; owl:annotatedTarget "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11524702"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110841 ; owl:annotatedTarget "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22279524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110842 ; owl:annotatedTarget "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2168777"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2234061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110843 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6696469"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8298653"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110844 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7849702"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110845 ; owl:annotatedTarget "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Papillomaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050301 ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3339259"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8798680"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110846 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10385124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1054497"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110847 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23623389"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8797827"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110848 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11841555"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110849 ; owl:annotatedTarget "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16947863"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110850 ; owl:annotatedTarget "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15679822"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110851 ; owl:annotatedTarget "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1405476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110852 ; owl:annotatedTarget "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22871920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110853 ; owl:annotatedTarget "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26220973"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110854 ; owl:annotatedTarget "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Varicellovirus"^^xsd:string, "url:http://www.expasy.org/viralzone/all_by_species/179.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050302 ; owl:annotatedTarget "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26749309"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110855 ; owl:annotatedTarget "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11689488"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110856 ; owl:annotatedTarget "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16252232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110857 ; owl:annotatedTarget "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9650770"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110858 ; owl:annotatedTarget "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7825585"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110859 ; owl:annotatedTarget "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27259053"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110860 ; owl:annotatedTarget "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110861 ; owl:annotatedTarget "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf"^^xsd:string, "url:http://www.expasy.org/viralzone/all_by_species/37.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050303 ; owl:annotatedTarget "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7846071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110862 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8075643"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110863 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23246293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110864 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Aniseikonia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050304 ; owl:annotatedTarget "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15781871"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110865 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27063057"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110866 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19878917"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110867 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.expasy.org/viralzone/all_by_species/28.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050305 ; owl:annotatedTarget "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20850105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110868 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22325361"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110869 ; owl:annotatedTarget "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9662400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110870 ; owl:annotatedTarget "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9662399"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110871 ; owl:annotatedTarget "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Bornaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050307 ; owl:annotatedTarget "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10369266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110872 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14581620"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110873 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11343300"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110874 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8896572"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110875 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11941477"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110876 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21802063"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110877 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9771712"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110878 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15820313"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110879 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10835638"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16323008"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110880 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7485157"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110881 ; owl:annotatedTarget "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19122664"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110882 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17068223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110883 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15937090"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18587394"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110884 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18852889"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110885 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12354785"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110886 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17804789"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110887 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17447842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110888 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11586304"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110889 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17554261"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110890 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10577918"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110891 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11385576"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110892 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14610718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110893 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8841195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110894 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17881657"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110895 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18587394"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110896 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18438406"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110897 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15479277"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040019 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger D-mannitol."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10053016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110898 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19890111"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22476154"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110899 ; owl:annotatedTarget "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8841195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110900 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19122664"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110901 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18246054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110902 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alkhurma_virus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050308 ; owl:annotatedTarget "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10747815"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110903 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11752413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110904 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18438405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110905 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17554261"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110906 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10777714"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110907 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Measles"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050309 ; owl:annotatedTarget "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18758464"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110908 ; owl:annotatedTarget "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19890111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110909 ; owl:annotatedTarget "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6361068"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110910 ; owl:annotatedTarget "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19234463"^^xsd:string, "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110912 ; owl:annotatedTarget "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1409720"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110913 ; owl:annotatedTarget "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1689104"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110914 ; owl:annotatedTarget "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Physical_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050324 ; owl:annotatedTarget "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1409720"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110915 ; owl:annotatedTarget "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2675425"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110916 ; owl:annotatedTarget "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8102379"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110917 ; owl:annotatedTarget "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8941647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110918 ; owl:annotatedTarget "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7530501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110919 ; owl:annotatedTarget "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Genetic_disorder"^^xsd:string, "url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050325 ; owl:annotatedTarget "A medical disorder that is an illness caused by abnormalities in genes or chromosomes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1558976"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110920 ; owl:annotatedTarget "A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9915955"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110921 ; owl:annotatedTarget "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10583959"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110922 ; owl:annotatedTarget "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14622600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110923 ; owl:annotatedTarget "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15703195"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110924 ; owl:annotatedTarget "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19804848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110925 ; owl:annotatedTarget "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10619715"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24095155"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7704029"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110926 ; owl:annotatedTarget "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10508519"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11333380"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110927 ; owl:annotatedTarget "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10051637"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15221447"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110928 ; owl:annotatedTarget "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050328 ; owl:annotatedTarget "A hypothyroidism that is present at birth."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24268659"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110929 ; owl:annotatedTarget "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23746549"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110930 ; owl:annotatedTarget "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25250574"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110931 ; owl:annotatedTarget "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11738357"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110932 ; owl:annotatedTarget "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders"^^xsd:string, "url:http://en.wikipedia.org/wiki/Mental_disorder"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050329 ; owl:annotatedTarget "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28017374"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110933 ; owl:annotatedTarget "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17160903"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22560515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110934 ; owl:annotatedTarget "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21109227"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110935 ; owl:annotatedTarget "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10952871"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110936 ; owl:annotatedTarget "A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3377922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110937 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11741829"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3588909"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110938 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12627228"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110939 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050331 ; owl:annotatedTarget "A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22499339"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110940 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1928091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110941 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10888887"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110942 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17632511"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110943 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11207362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110944 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17404618"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110945 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18606301"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110946 ; owl:annotatedTarget "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7951321"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110947 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1347148"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110948 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8447316"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110949 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7874167"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110950 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11810298"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110951 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12444107"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110952 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8001158"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110953 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8630502"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110954 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9462749"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110955 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10441344"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110956 ; owl:annotatedTarget "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1897529"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110957 ; owl:annotatedTarget "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10649495"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2880291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110958 ; owl:annotatedTarget "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2378352"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8413956"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110959 ; owl:annotatedTarget "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12838552"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1437405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110960 ; owl:annotatedTarget "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17919309"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110961 ; owl:annotatedTarget "A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5082920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110962 ; owl:annotatedTarget "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4009643"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110963 ; owl:annotatedTarget "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12525541"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14043746"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110964 ; owl:annotatedTarget "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14523231"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16127465"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21357617"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110965 ; owl:annotatedTarget "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7416253"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110966 ; owl:annotatedTarget "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4325377"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5663738"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110967 ; owl:annotatedTarget "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4073129"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110968 ; owl:annotatedTarget "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10700182"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9973295"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110969 ; owl:annotatedTarget "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9288091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110970 ; owl:annotatedTarget "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12649808"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110971 ; owl:annotatedTarget "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12649808"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8933344"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110972 ; owl:annotatedTarget "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050332 ; owl:annotatedTarget "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1632443"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110973 ; owl:annotatedTarget "A brachydactyly characterized by short, abducted thumbs and great toes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11897820"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110974 ; owl:annotatedTarget "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17668388"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110975 ; owl:annotatedTarget "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20015959"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20170896"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110976 ; owl:annotatedTarget "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20683927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110977 ; owl:annotatedTarget "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25758993"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110978 ; owl:annotatedTarget "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7083610"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110979 ; owl:annotatedTarget "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19668216"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110980 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19800048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110981 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21725307"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110982 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17603801"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22152675"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110983 ; owl:annotatedTarget "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22246503"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110984 ; owl:annotatedTarget "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/bradyopsia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17826834"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050335 ; owl:annotatedTarget "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22282472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110985 ; owl:annotatedTarget "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26092869"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110986 ; owl:annotatedTarget "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22883145"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110987 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20036350"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9373798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110988 ; owl:annotatedTarget "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23012439"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110989 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24360808"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110990 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24166846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110991 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26096313"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110992 ; owl:annotatedTarget "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21565611"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25118024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110993 ; owl:annotatedTarget "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26477546"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110994 ; owl:annotatedTarget "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Hypophosphatemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050336 ; owl:annotatedTarget "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26714646"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110995 ; owl:annotatedTarget "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24886560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110996 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24886560"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110997 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15322546"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110998 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15138899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0110999 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16682973"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111000 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17160906"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111001 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17558409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111002 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18674751"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111003 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18387594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111004 ; owl:annotatedTarget "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infectious_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050338 ; owl:annotatedTarget "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9390563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111005 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9199568"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111006 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16505158"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111007 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11857109"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111008 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1867279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111009 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17377520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111010 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9618177"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111011 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12659814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111012 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9466990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111013 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.microbiologyinpictures.com/introduction.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24727150"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050339 ; owl:annotatedTarget "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11053266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111014 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11868161"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111015 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12920076"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111016 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16199541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111017 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25789692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111018 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18654668"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24474277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111019 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19409519"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111020 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20805371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111021 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26865426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111022 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22929024"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111023 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040020 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger cefotaxime."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050340 ; owl:annotatedTarget "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23746546"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111024 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24791901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111025 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24945461"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25018096"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111026 ; owl:annotatedTarget "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14647275"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111027 ; owl:annotatedTarget "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11431687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111028 ; owl:annotatedTarget "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8696333"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111029 ; owl:annotatedTarget "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050342 ; owl:annotatedTarget "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10802645"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111030 ; owl:annotatedTarget "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11389486"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111031 ; owl:annotatedTarget "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12469120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111032 ; owl:annotatedTarget "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10607817"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111033 ; owl:annotatedTarget "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1170/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10205270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111034 ; owl:annotatedTarget "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10476042"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8878478"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111035 ; owl:annotatedTarget "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26063658"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111036 ; owl:annotatedTarget "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1159664"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11810299"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111037 ; owl:annotatedTarget "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17120046"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21963049"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111038 ; owl:annotatedTarget "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15024124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2380820"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111039 ; owl:annotatedTarget "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22238410"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7874115"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111040 ; owl:annotatedTarget "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25266922"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9215682"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111041 ; owl:annotatedTarget "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2303074"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7711737"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111042 ; owl:annotatedTarget "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6962066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9384616"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111043 ; owl:annotatedTarget "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17768118"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21765411"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21765412"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21765413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111044 ; owl:annotatedTarget "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2933589"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2943331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111045 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11499670"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7506948"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7686693"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111046 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6268139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111047 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25061177"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111048 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24325358"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5681484"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111049 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18988861"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20007542"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111050 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24958846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111051 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12669124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21107324"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111052 ; owl:annotatedTarget "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23434115"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111053 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19630771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3258663"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111054 ; owl:annotatedTarget "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26280575"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26769223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111055 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2052556"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8486780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111056 ; owl:annotatedTarget "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050352 ; owl:annotatedTarget "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19549989"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19552682"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111057 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8562397"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111058 ; owl:annotatedTarget "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11222377"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1730088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111059 ; owl:annotatedTarget "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18328202"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8275569"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9712536"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111060 ; owl:annotatedTarget "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20942659"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111061 ; owl:annotatedTarget "A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3399894"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111062 ; owl:annotatedTarget "A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15133511"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15590700"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16151858"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17710231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111063 ; owl:annotatedTarget "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11528396"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2801766"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111064 ; owl:annotatedTarget "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26078401"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111065 ; owl:annotatedTarget "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25168382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111066 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050353 ; owl:annotatedTarget "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27647924"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27884763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111067 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12512044"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5064535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111068 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "ORDO:79303"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12970144"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3198770"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111069 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#created_by"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:created_by ; owl:annotatedTarget "Author of the class."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9802883"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111070 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11067870"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3470305"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111071 ; owl:annotatedTarget "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15215484"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111072 ; owl:annotatedTarget "A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111073 ; owl:annotatedTarget "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10471492"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111074 ; owl:annotatedTarget "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16086176"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111075 ; owl:annotatedTarget "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19726882"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111076 ; owl:annotatedTarget "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1896471"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/728372"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7706479"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111077 ; owl:annotatedTarget "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12145747"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/196233"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8503797"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111078 ; owl:annotatedTarget "A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11226280"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16263368"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18214792"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111079 ; owl:annotatedTarget "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27500492"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111080 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26046368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111081 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12973351"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19405097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111082 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11239453"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17436244"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111083 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11001585"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111084 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22232082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111085 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9806548"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111086 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1574115"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9272737"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111087 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10615118"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111088 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12065746"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14670928"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111089 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26681308"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111090 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17452773"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111091 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21240275"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21240277"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111092 ; owl:annotatedTarget "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23623386"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111093 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.aafp.org/afp/2002/0401/p1388.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050354 ; owl:annotatedTarget "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17200671"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17200672"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111094 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10094191"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9371798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111095 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20400963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111096 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16116424"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111097 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15502827"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111098 ; owl:annotatedTarget "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050382 ; owl:annotatedTarget "A tularemia that results_in swelling of regional lymph glands."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9294105"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111099 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1570017"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111100 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11085914"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15930087"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111101 ; owl:annotatedTarget "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11575290"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7795649"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111102 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9326926"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111103 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10545951"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111104 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16369531"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111105 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15774581"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111106 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17426099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111107 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18162506"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111108 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19667185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111109 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15784703"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111110 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26073777"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111111 ; owl:annotatedTarget "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9326933"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9361039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111112 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12872123"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111113 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12872122"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111114 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12244321"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111115 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17618285"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111116 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20179356"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111117 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29635071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050383 ; owl:annotatedTarget "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19508969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111118 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21258341"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111119 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18199800"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111120 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22019273"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111121 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22863007"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111122 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22863007"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111123 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23793029"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111124 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24882706"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111125 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25557784"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111126 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28089251"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111127 ; owl:annotatedTarget "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2083978"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040021 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger cephalosporin."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2921777"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8415591"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050387 ; owl:annotatedTarget "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1429048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111128 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15924139"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111129 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20023659"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111130 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21756023"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111131 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24676634"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111132 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24676636"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111133 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25557779"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111134 ; owl:annotatedTarget "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11967537"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111135 ; owl:annotatedTarget "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11479539"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111136 ; owl:annotatedTarget "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18237401"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111137 ; owl:annotatedTarget "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carrion%27s_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050398 ; owl:annotatedTarget "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19726876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111138 ; owl:annotatedTarget "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25914718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111139 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23143598"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111140 ; owl:annotatedTarget "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12736803"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17445238"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111141 ; owl:annotatedTarget "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9794553"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111142 ; owl:annotatedTarget "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21874297"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111143 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15715585/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17400872"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111144 ; owl:annotatedTarget "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28695117"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28992643"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29068584"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111145 ; owl:annotatedTarget "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://www.omim.org/entry/610984"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050419 ; owl:annotatedTarget "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28028990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111146 ; owl:annotatedTarget "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/"^^xsd:string, "url:https://www.lymphoma.org/aboutlymphoma/nhl/aitl/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22700722"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111147 ; owl:annotatedTarget "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20141359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111148 ; owl:annotatedTarget "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19200529"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20141359"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111149 ; owl:annotatedTarget "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15054843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111150 ; owl:annotatedTarget "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28613527"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111151 ; owl:annotatedTarget "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.bloodjournal.org/content/129/12/1646"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111152 ; owl:annotatedTarget "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25763452"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111153 ; owl:annotatedTarget "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23580201"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111154 ; owl:annotatedTarget "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26581903"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111155 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/globozoospermia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10471512"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21397064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111156 ; owl:annotatedTarget "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/castlemans-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111157 ; owl:annotatedTarget "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/saddan"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10053006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111158 ; owl:annotatedTarget "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis"^^xsd:string, "url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050424 ; owl:annotatedTarget "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23449628"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111159 ; owl:annotatedTarget "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17033969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111160 ; owl:annotatedTarget "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2650599"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7493034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111161 ; owl:annotatedTarget "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7526210"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111162 ; owl:annotatedTarget "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Restless_legs_syndrome"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050425 ; owl:annotatedTarget "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10053004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111163 ; owl:annotatedTarget "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9731530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111164 ; owl:annotatedTarget "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency"^^xsd:string, "url:https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10746556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111165 ; owl:annotatedTarget "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11095995"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111166 ; owl:annotatedTarget "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12491225"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21032395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111167 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050426 ; owl:annotatedTarget "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11443547"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15241655"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22522443"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111168 ; owl:annotatedTarget "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24859200"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111169 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15286160"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111170 ; owl:annotatedTarget "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12529507"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21266382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111180 ; owl:annotatedTarget "A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1388/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8898206"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111181 ; owl:annotatedTarget "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12539047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111182 ; owl:annotatedTarget "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16054936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111183 ; owl:annotatedTarget "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25037980"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111184 ; owl:annotatedTarget "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15108122"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111185 ; owl:annotatedTarget "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598274"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24344687"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111186 ; owl:annotatedTarget "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11198284"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9731526"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111187 ; owl:annotatedTarget "A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15802564"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23486992"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111188 ; owl:annotatedTarget "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12847162"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15036327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111189 ; owl:annotatedTarget "A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21620354"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111190 ; owl:annotatedTarget "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11805270"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111191 ; owl:annotatedTarget "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050427 ; owl:annotatedTarget "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1363881"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15154112"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111192 ; owl:annotatedTarget "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20975055"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23143600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111193 ; owl:annotatedTarget "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15372378"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7258225"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111194 ; owl:annotatedTarget "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12019212"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9843209"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111195 ; owl:annotatedTarget "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050428 ; owl:annotatedTarget "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14985388"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20170900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111196 ; owl:annotatedTarget "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15358725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111197 ; owl:annotatedTarget "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15358725"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111198 ; owl:annotatedTarget "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7420092"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111199 ; owl:annotatedTarget "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17354000"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7365507"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111200 ; owl:annotatedTarget "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23141292"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111201 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12627231"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111202 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22703882"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111203 ; owl:annotatedTarget "An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12690580"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14981520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111204 ; owl:annotatedTarget "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22703882"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111205 ; owl:annotatedTarget "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1517763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111206 ; owl:annotatedTarget "An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18832141"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111207 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050429 ; owl:annotatedTarget "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15122253"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111208 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20142617"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111209 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24207122"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111210 ; owl:annotatedTarget "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15054395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111211 ; owl:annotatedTarget "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28369220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111212 ; owl:annotatedTarget "An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in WARS on 14q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16728649"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17564964"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111213 ; owl:annotatedTarget "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22522442"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25274842"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111214 ; owl:annotatedTarget "A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20037588"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21336783"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4056805"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111215 ; owl:annotatedTarget "A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30103348"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111216 ; owl:annotatedTarget "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30103348"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111217 ; owl:annotatedTarget "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string, "url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15965261"^^xsd:string, "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050430 ; owl:annotatedTarget "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10500204"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10543403"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111218 ; owl:annotatedTarget "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11523563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111219 ; owl:annotatedTarget "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17676042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111220 ; owl:annotatedTarget "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27816943"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111221 ; owl:annotatedTarget "A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25087613"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111222 ; owl:annotatedTarget "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16227997"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111223 ; owl:annotatedTarget "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22818856"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111224 ; owl:annotatedTarget "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8640223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111225 ; owl:annotatedTarget "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy"^^xsd:string, "url:http://my.clevelandclinic.org/services/heart/disorders/arvd"^^xsd:string, "url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050431 ; owl:annotatedTarget "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16173074"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111226 ; owl:annotatedTarget "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK1199/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16041373"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111227 ; owl:annotatedTarget "A frontotemporal dementia that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15016762"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/419979"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111228 ; owl:annotatedTarget "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous muation in TEAD1 on 11p15.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23453667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111229 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Asperger_syndrome"^^xsd:string, "url:http://www.neurodevnet.ca"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050432 ; owl:annotatedTarget "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23453667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111230 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22958903"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111231 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24052401"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111232 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23768512"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111233 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22522420"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111234 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23519211"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111235 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11709191"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111236 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12369018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111237 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23359570"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111238 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23217329"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111239 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050433 ; owl:annotatedTarget "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15894594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111240 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15121789"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111241 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17436019"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111242 ; owl:annotatedTarget "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3728563"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111243 ; owl:annotatedTarget "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20635335"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25168385"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111244 ; owl:annotatedTarget "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20635335"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111245 ; owl:annotatedTarget "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16051700"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5770171"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111246 ; owl:annotatedTarget "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25961942"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4774535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111247 ; owl:annotatedTarget "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19008299"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25047197"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111248 ; owl:annotatedTarget "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24462371"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111249 ; owl:annotatedTarget "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14663042"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9500549"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111250 ; owl:annotatedTarget "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1959977"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040022 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger amodiaquine."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24218364"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27270108"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111251 ; owl:annotatedTarget "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19476995"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8379998"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111252 ; owl:annotatedTarget "A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19117870"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8825042"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111253 ; owl:annotatedTarget "A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16602100"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111254 ; owl:annotatedTarget "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10802661"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21044901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111255 ; owl:annotatedTarget "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome"^^xsd:string, "url:http://en.wikipedia.org/wiki/Long_QT_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050434 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7493028"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7669675"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111256 ; owl:annotatedTarget "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29483667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111257 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22042873"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111258 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19915526"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/501501"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111259 ; owl:annotatedTarget "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20301734"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8253776"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111260 ; owl:annotatedTarget "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22069215"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8200987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111261 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20950787"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111262 ; owl:annotatedTarget "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21841779"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9700595"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111263 ; owl:annotatedTarget "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25261934"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111264 ; owl:annotatedTarget "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24355708"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111265 ; owl:annotatedTarget "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/mulibrey-nanism/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050436 ; owl:annotatedTarget "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18997784"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26000619"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111266 ; owl:annotatedTarget "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22918376"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111267 ; owl:annotatedTarget "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17372140"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111268 ; owl:annotatedTarget "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16684601"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111269 ; owl:annotatedTarget "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK453433/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6025118"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9428520"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111270 ; owl:annotatedTarget "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25480986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111271 ; owl:annotatedTarget "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7842019"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7887410"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111272 ; owl:annotatedTarget "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2137962"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111273 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25574826"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111274 ; owl:annotatedTarget "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11586359"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1934976"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111275 ; owl:annotatedTarget "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/danon-disease/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050437 ; owl:annotatedTarget "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12565911"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20220442"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9222196"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111276 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12754706"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12838198"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7738175"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111277 ; owl:annotatedTarget "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20140240"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111278 ; owl:annotatedTarget "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17236132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111279 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9886260"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111280 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24791904"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111281 ; owl:annotatedTarget "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in AP1S3 on chromosome 2q36.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10573011"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111282 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8841203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111283 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 4q."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12485440"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111284 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17236132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111285 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11841557"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111286 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20953188"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111287 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in TRAF3IP2 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9259283"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111288 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14632189"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111289 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10986047"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111290 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18364390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111291 ; owl:annotatedTarget "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15115768"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111292 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/frasier-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050438 ; owl:annotatedTarget "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15827091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111293 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10742094"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111294 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19763161"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111295 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30351409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111296 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12429594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111297 ; owl:annotatedTarget "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8730286"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111298 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19841378"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111299 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18625863"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111300 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25362483"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111301 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9697698"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111302 ; owl:annotatedTarget "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17452582"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111303 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18830713"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111304 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12402266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111305 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in heterozygous mutation ADGRV1 on chromosome 5q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12429594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111306 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8730286"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111307 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21922598"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111308 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in homozygous mutation in CPA6 on chromosome 8p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15557493"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111309 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9384604"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111310 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17054683"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111311 ; owl:annotatedTarget "A familial febrile seizures that has_material_basis_in heterozygous mutation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19710712"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111312 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Usher_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050439 ; owl:annotatedTarget "A syndrome characterized by a combination of hearing loss and visual impairment."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19798636"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111313 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11992121"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111314 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24928908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111315 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27352968"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111316 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10888596"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111317 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15101829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111318 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16130088"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111319 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18241056"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111320 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9259280"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111321 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18756473"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111322 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy"^^xsd:string, "url:http://omim.org/entry/608600"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050440 ; owl:annotatedTarget "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10762541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111323 ; owl:annotatedTarget "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14663045"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111324 ; owl:annotatedTarget "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29539279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111325 ; owl:annotatedTarget "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12830434"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111326 ; owl:annotatedTarget "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17431681"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111327 ; owl:annotatedTarget "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20467754"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111328 ; owl:annotatedTarget "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24658933"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111329 ; owl:annotatedTarget "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11309366"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1371116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111330 ; owl:annotatedTarget "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24214399"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111331 ; owl:annotatedTarget "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19896112"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22617343"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111332 ; owl:annotatedTarget "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22101682"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111333 ; owl:annotatedTarget "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050441 ; owl:annotatedTarget "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10523015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111334 ; owl:annotatedTarget "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24336167"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111335 ; owl:annotatedTarget "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6859126"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8664898"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111336 ; owl:annotatedTarget "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1271196"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7874170"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111337 ; owl:annotatedTarget "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/isolated-hyperckemia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10746614"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111338 ; owl:annotatedTarget "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10369869"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111339 ; owl:annotatedTarget "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12566046"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20157015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111340 ; owl:annotatedTarget "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19061984"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29544499"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111341 ; owl:annotatedTarget "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1303619"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16960809"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111342 ; owl:annotatedTarget "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050444 ; owl:annotatedTarget "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25394726"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111343 ; owl:annotatedTarget "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12181402"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8168137"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111344 ; owl:annotatedTarget "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of ETV6 and PDGFRB formed by a translocation from chromosome 12 to chromosome 5q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16225626"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9406826"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111345 ; owl:annotatedTarget "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/421361"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8799157"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111346 ; owl:annotatedTarget "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/5910871"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8618021"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111347 ; owl:annotatedTarget "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/699354"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9800905"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111348 ; owl:annotatedTarget "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10782927"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111349 ; owl:annotatedTarget "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24456159"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4314818"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111350 ; owl:annotatedTarget "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15609246"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111351 ; owl:annotatedTarget "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20847235"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111352 ; owl:annotatedTarget "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia"^^xsd:string, "url:https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050445 ; owl:annotatedTarget "A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15052268"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111353 ; owl:annotatedTarget "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20190753"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111354 ; owl:annotatedTarget "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15843405"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111355 ; owl:annotatedTarget "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21552264"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111356 ; owl:annotatedTarget "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/White_sponge_nevus"^^xsd:string, "url:http://omim.org/entry/193900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050448 ; owl:annotatedTarget "A skin disease characterized by a defect in the normal process of keratinization of the mucosa."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820097"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111357 ; owl:annotatedTarget "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22265015"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7588969"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111358 ; owl:annotatedTarget "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18671780"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23392294"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111359 ; owl:annotatedTarget "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24697860"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111360 ; owl:annotatedTarget "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12740761"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111361 ; owl:annotatedTarget "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11073718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111362 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14184033"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3997544"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8704193"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111363 ; owl:annotatedTarget "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21460840"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111364 ; owl:annotatedTarget "An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8787673"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111365 ; owl:annotatedTarget "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/207987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111366 ; owl:annotatedTarget "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050449 ; owl:annotatedTarget "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26428751"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111367 ; owl:annotatedTarget "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/168823"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111368 ; owl:annotatedTarget "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2215607"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6738363"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111369 ; owl:annotatedTarget "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2022742"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111370 ; owl:annotatedTarget "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21184099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111371 ; owl:annotatedTarget "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4942110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111372 ; owl:annotatedTarget "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12569987"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040023 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger cefaclor."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19375057"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21368769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111373 ; owl:annotatedTarget "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6798060"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8040303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111374 ; owl:annotatedTarget "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19261599"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22482962"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30498368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111375 ; owl:annotatedTarget "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19261599"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111376 ; owl:annotatedTarget "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25537362"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111377 ; owl:annotatedTarget "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050450 ; owl:annotatedTarget "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18179903"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111378 ; owl:annotatedTarget "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30543681"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111379 ; owl:annotatedTarget "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11471164"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111380 ; owl:annotatedTarget "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17256792"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7395922"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111381 ; owl:annotatedTarget "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11303519"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15106123"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111382 ; owl:annotatedTarget "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7668281"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111383 ; owl:annotatedTarget "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23455423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111384 ; owl:annotatedTarget "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15034582"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111385 ; owl:annotatedTarget "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23455423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111386 ; owl:annotatedTarget "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11602629"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2212001"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111387 ; owl:annotatedTarget "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14431322"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9832036"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111388 ; owl:annotatedTarget "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Brugada_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050451 ; owl:annotatedTarget "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10466419"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2128891"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7550242"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111389 ; owl:annotatedTarget "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3124802"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7550242"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111390 ; owl:annotatedTarget "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18412124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7607677"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111391 ; owl:annotatedTarget "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1928092"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/817853"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111392 ; owl:annotatedTarget "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16960811"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111393 ; owl:annotatedTarget "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15933803"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8650226"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111394 ; owl:annotatedTarget "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6796310"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7493035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111395 ; owl:annotatedTarget "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16098079"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111396 ; owl:annotatedTarget "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050452 ; owl:annotatedTarget "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23716552"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111397 ; owl:annotatedTarget "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12434312"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111398 ; owl:annotatedTarget "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7711721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111399 ; owl:annotatedTarget "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21055716"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111400 ; owl:annotatedTarget "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19561605"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111401 ; owl:annotatedTarget "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12573255"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111402 ; owl:annotatedTarget "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30449657"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111403 ; owl:annotatedTarget "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19200527"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3236352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111404 ; owl:annotatedTarget "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111405 ; owl:annotatedTarget "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FRAS1 on chromosome 4q21.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111406 ; owl:annotatedTarget "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Lissencephaly"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050453 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111407 ; owl:annotatedTarget "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20159111"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111408 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11179025"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15665352"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111409 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23716654"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111410 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in ZNF408 on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15024691"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111411 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050454 ; owl:annotatedTarget "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12172548"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111412 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8252044"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111413 ; owl:annotatedTarget "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28944135"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111414 ; owl:annotatedTarget "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20176027"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111415 ; owl:annotatedTarget "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in TTC37 on chromosome5q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22444670"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111416 ; owl:annotatedTarget "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111417 ; owl:annotatedTarget "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3467353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111418 ; owl:annotatedTarget "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6833877"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111419 ; owl:annotatedTarget "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17883852"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111420 ; owl:annotatedTarget "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16200213"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111421 ; owl:annotatedTarget "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17994020"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111422 ; owl:annotatedTarget "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9020840"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111423 ; owl:annotatedTarget "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in EYA1 on chromosome 8q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17357085"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111424 ; owl:annotatedTarget "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in SIX5 on chromosome 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12531876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111425 ; owl:annotatedTarget "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNI3 on chromosome 19q13.42."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16061566"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111426 ; owl:annotatedTarget "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16651346"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111427 ; owl:annotatedTarget "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNT2 on chromosome 1q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16650084"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111428 ; owl:annotatedTarget "An essential tremor that has_material_basis_in heterozygous mutation in DRD3 on chromosome 3q13.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9399207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111429 ; owl:annotatedTarget "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16702189"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111430 ; owl:annotatedTarget "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22863194"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111431 ; owl:annotatedTarget "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26188006"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111432 ; owl:annotatedTarget "An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15342707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111433 ; owl:annotatedTarget "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26593267"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111434 ; owl:annotatedTarget "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14508503"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111435 ; owl:annotatedTarget "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27495975"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111436 ; owl:annotatedTarget "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Buruli_ulcer"^^xsd:string, "url:http://www.who.int/mediacentre/factsheets/fs199/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050456 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19327736"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111437 ; owl:annotatedTarget "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28969390"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111438 ; owl:annotatedTarget "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21349918"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111439 ; owl:annotatedTarget "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10369594"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111440 ; owl:annotatedTarget "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11017079"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11017080"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9514489"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111441 ; owl:annotatedTarget "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050457 ; owl:annotatedTarget "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25351951"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111442 ; owl:annotatedTarget "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9382106"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111443 ; owl:annotatedTarget "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15364701"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19847901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111444 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22961547"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111445 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17455289"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22748208"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111446 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25401298"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111447 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18976727"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111448 ; owl:annotatedTarget "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21549339"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111449 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25954030"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111450 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19243074"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24782409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111451 ; owl:annotatedTarget "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050458 ; owl:annotatedTarget "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8596935"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111452 ; owl:annotatedTarget "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23141293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111453 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23810382"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111454 ; owl:annotatedTarget "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has _material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12215968"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9482441"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111455 ; owl:annotatedTarget "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23200864"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111456 ; owl:annotatedTarget "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050459 ; owl:annotatedTarget "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25029335"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111457 ; owl:annotatedTarget "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8593531"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9700591"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111458 ; owl:annotatedTarget "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11261429"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111459 ; owl:annotatedTarget "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16474404"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111460 ; owl:annotatedTarget "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16474404"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111461 ; owl:annotatedTarget "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in KRAS on chromosome 12p12.1."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050460 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16439621"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111462 ; owl:annotatedTarget "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAP2K1 on chromosome 15q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20358587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111463 ; owl:annotatedTarget "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24901367"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28185376"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111464 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24827421"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111465 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30358850"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111466 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23084291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111467 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25754315"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111468 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23315540"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111469 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27132592"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111470 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27132592"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111471 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050461 ; owl:annotatedTarget "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21786366"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111472 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17873122"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21189481"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111473 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111474 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22700954"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111475 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23814038"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111476 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040024 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger ceftazidime."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22499341"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22833457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111477 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25058219"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111478 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21549344"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111479 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22608499"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111480 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23022099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111481 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29576219"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111482 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15505824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111483 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24119684"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111484 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25385316"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25629079"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28077841"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111485 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17033963"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25037205"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111486 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050462 ; owl:annotatedTarget "A craniosynostosis that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598281"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111487 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27799064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111488 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25361775"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25787132"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111489 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26189817"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111490 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21907147"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111491 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28777931"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111492 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22492562"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23008233"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111493 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17160893"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111494 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28942965"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111495 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23849775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111496 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Campomelic_dysplasia"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia"^^xsd:string, "url:http://www.healthline.com/galecontent/campomelic-dysplasia-1"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050463 ; owl:annotatedTarget "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25556185"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111497 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23596069"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111498 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27485409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111499 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25434004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111500 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Farber_disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050464 ; owl:annotatedTarget "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26626369"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111501 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20362274"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111502 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1978757"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111503 ; owl:annotatedTarget "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in TP53 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11479205"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111504 ; owl:annotatedTarget "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10633135"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1532426"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111505 ; owl:annotatedTarget "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13579162"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22265016"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111506 ; owl:annotatedTarget "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050465 ; owl:annotatedTarget "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24241535"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111507 ; owl:annotatedTarget "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14729840"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/448481"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111508 ; owl:annotatedTarget "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11078474"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111509 ; owl:annotatedTarget "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13520885"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25073711"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9529347"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111510 ; owl:annotatedTarget "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10797439"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8414022"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8635060"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111511 ; owl:annotatedTarget "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20577567"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111512 ; owl:annotatedTarget "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23290074"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7137223"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111513 ; owl:annotatedTarget "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/metatropic-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18348257"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4963592"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111514 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26094573"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111515 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23043144"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111516 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050466 ; owl:annotatedTarget "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10926541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111517 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in SLC25A4 on chromosome 4q35.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19664747"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111518 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in RRM2B on chromosome 8q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23352259"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111519 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11431692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111520 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11431686"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111521 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11431686"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111522 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21937588"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111523 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29290614"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111524 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16685652"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111525 ; owl:annotatedTarget "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15317892"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111526 ; owl:annotatedTarget "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050467 ; owl:annotatedTarget "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22703880"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111527 ; owl:annotatedTarget "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16960809"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111528 ; owl:annotatedTarget "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16846771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6716409"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111529 ; owl:annotatedTarget "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17366580"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1918493"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22683711"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24006476"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111530 ; owl:annotatedTarget "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12721955"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111531 ; owl:annotatedTarget "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15625620"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7422392"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111532 ; owl:annotatedTarget "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15124103"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23047743"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111533 ; owl:annotatedTarget "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22387013"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3041835"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111534 ; owl:annotatedTarget "A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/11784876"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8126048"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111535 ; owl:annotatedTarget "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15489854"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19438932"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111536 ; owl:annotatedTarget "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17145499"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111537 ; owl:annotatedTarget "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/paramyotonia-congenita"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1316765"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111538 ; owl:annotatedTarget "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20503319"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4992387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111539 ; owl:annotatedTarget "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/prolidase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18340504"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1972707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111540 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15623792"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3778279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111541 ; owl:annotatedTarget "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10615125"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12362049"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17447113"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111542 ; owl:annotatedTarget "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15031030"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20101697"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111543 ; owl:annotatedTarget "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11968094"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8484413"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111544 ; owl:annotatedTarget "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7692306"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111545 ; owl:annotatedTarget "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6789651"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9843207"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111546 ; owl:annotatedTarget "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12745002"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25228067"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111547 ; owl:annotatedTarget "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15591271"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7387508"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111548 ; owl:annotatedTarget "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15654336"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111549 ; owl:annotatedTarget "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23541344"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111550 ; owl:annotatedTarget "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17439987"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111551 ; owl:annotatedTarget "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1520078"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20037587"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111552 ; owl:annotatedTarget "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20503319"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2229114"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111553 ; owl:annotatedTarget "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19232556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111554 ; owl:annotatedTarget "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25558065"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29290337"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111555 ; owl:annotatedTarget "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28241848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050468 ; owl:annotatedTarget "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18098741"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9008238"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111556 ; owl:annotatedTarget "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21715711"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111557 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29499166"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111558 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26437932"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30298599"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111559 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26828946"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27009151"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111560 ; owl:annotatedTarget "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20375004"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111561 ; owl:annotatedTarget "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18931342"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21849667"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111562 ; owl:annotatedTarget "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15165630"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23656586"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111563 ; owl:annotatedTarget "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19847792"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111564 ; owl:annotatedTarget "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22671030"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111565 ; owl:annotatedTarget "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17250658"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/907573"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050469 ; owl:annotatedTarget "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24989505"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111566 ; owl:annotatedTarget "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17660820"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111567 ; owl:annotatedTarget "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15368082"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111568 ; owl:annotatedTarget "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15452077"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7065944"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111569 ; owl:annotatedTarget "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18179896"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4812083"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111570 ; owl:annotatedTarget "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10700184"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16404586"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9399901"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111571 ; owl:annotatedTarget "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19365138"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111572 ; owl:annotatedTarget "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20346438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111573 ; owl:annotatedTarget "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26160856"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111574 ; owl:annotatedTarget "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22529292"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111575 ; owl:annotatedTarget "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040025 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger cefuroxime."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Donohue_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050470 ; owl:annotatedTarget "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22529292"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111576 ; owl:annotatedTarget "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26148990"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111577 ; owl:annotatedTarget "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27108797"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27108798"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111578 ; owl:annotatedTarget "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15496426"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15806396"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9393345"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111579 ; owl:annotatedTarget "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6747661"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111580 ; owl:annotatedTarget "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17847009"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111581 ; owl:annotatedTarget "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21288095"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111582 ; owl:annotatedTarget "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12560874"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7437116"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111583 ; owl:annotatedTarget "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in CPN1 on chromosome 10q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12927431"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19283854"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111584 ; owl:annotatedTarget "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15363639"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9399886"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111585 ; owl:annotatedTarget "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/rab18-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16532399"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/677168"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111586 ; owl:annotatedTarget "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Carney_complex"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/carney-complex"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050471 ; owl:annotatedTarget "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23656588"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25841028"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111587 ; owl:annotatedTarget "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/greenberg-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18382993"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111588 ; owl:annotatedTarget "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19574260"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111589 ; owl:annotatedTarget "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/cohen-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12730828"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24334764"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111590 ; owl:annotatedTarget "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1516223"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25427950"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111591 ; owl:annotatedTarget "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12850227"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16849641"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9242524"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111592 ; owl:annotatedTarget "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17103435"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111593 ; owl:annotatedTarget "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23261301"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111594 ; owl:annotatedTarget "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4552107"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9106527"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9714438"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111595 ; owl:annotatedTarget "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/monilethrix"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050472 ; owl:annotatedTarget "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7039311"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8923936"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111596 ; owl:annotatedTarget "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12592607"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111597 ; owl:annotatedTarget "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in TPM2 on chromosome 9p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20045868"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111598 ; owl:annotatedTarget "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9012416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111599 ; owl:annotatedTarget "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12592607"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111600 ; owl:annotatedTarget "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12865991"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111601 ; owl:annotatedTarget "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNT3 on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16642020"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111602 ; owl:annotatedTarget "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15282353"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111603 ; owl:annotatedTarget "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21032118"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111604 ; owl:annotatedTarget "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16642020"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111605 ; owl:annotatedTarget "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20964128"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111606 ; owl:annotatedTarget "A Freeman-Sheldon syndrome that has autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24726473"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111607 ; owl:annotatedTarget "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23487782"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111608 ; owl:annotatedTarget "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5539065"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111609 ; owl:annotatedTarget "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7039311"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111610 ; owl:annotatedTarget "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29604224"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111611 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11175288"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4154794"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4434170"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111612 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24658003"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111613 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26157035"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111614 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26872069"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111615 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Alstrom_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050473 ; owl:annotatedTarget "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30084953"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111616 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12811539"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4003033"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111617 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17159980"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27086870"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111618 ; owl:annotatedTarget "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10963100"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23561848"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111619 ; owl:annotatedTarget "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17220209"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5312820"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111620 ; owl:annotatedTarget "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23453666"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111621 ; owl:annotatedTarget "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16215323"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111622 ; owl:annotatedTarget "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12727968"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111623 ; owl:annotatedTarget "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24283224"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111624 ; owl:annotatedTarget "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2478019"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25557780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111625 ; owl:annotatedTarget "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20949620"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111626 ; owl:annotatedTarget "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/doors-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1132883"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24291220"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111627 ; owl:annotatedTarget "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23543054"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111628 ; owl:annotatedTarget "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29054612"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111629 ; owl:annotatedTarget "A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2542247"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111630 ; owl:annotatedTarget "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10676771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5913291"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111631 ; owl:annotatedTarget "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10676771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17795074"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111632 ; owl:annotatedTarget "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3925457"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111633 ; owl:annotatedTarget "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12673573"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111634 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29048736"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111635 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#creation_date"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource oboInOwl:creation_date ; owl:annotatedTarget "Date class was created."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/netherton-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050474 ; owl:annotatedTarget "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29703829"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111636 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in CEACAM16 on chromosome 19q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24312468"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111637 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in BDP1 on chromosome 5q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29590114"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111638 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in PPIP5K2 on chromosome 5q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29107558"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111639 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in ESRP1 on chromosome 8q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29961571"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29982980"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111640 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in MPZL2 on chromosome 11q23.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25807530"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111641 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30610177"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111642 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30973865"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111643 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in SPNS2 on chromosome 17p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29449721"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111644 ; owl:annotatedTarget "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in COCH on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31257402"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111645 ; owl:annotatedTarget "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/lactose-intolerance"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16400612"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5419986"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111646 ; owl:annotatedTarget "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19559398"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2947556"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111647 ; owl:annotatedTarget "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20702823"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7696232"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111648 ; owl:annotatedTarget "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15805154"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/6302256"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111649 ; owl:annotatedTarget "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome"^^xsd:string, "url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050475 ; owl:annotatedTarget "A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27049303"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111650 ; owl:annotatedTarget "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30425301"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111651 ; owl:annotatedTarget "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27838789"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111652 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in KDF1 on chromosome 1p36.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17354266"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111653 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11780064"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111654 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23063621"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111655 ; owl:annotatedTarget "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23063621"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111656 ; owl:annotatedTarget "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15675952"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111657 ; owl:annotatedTarget "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16525032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111658 ; owl:annotatedTarget "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17107387"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111659 ; owl:annotatedTarget "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Barth_syndrome"^^xsd:string, "url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1"^^xsd:string, "url:http://www.ninds.nih.gov/disorders/barth/barth.htm"^^xsd:string, "url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050476 ; owl:annotatedTarget "A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24714551"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111660 ; owl:annotatedTarget "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18184143"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/856958"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111661 ; owl:annotatedTarget "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27736875"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111662 ; owl:annotatedTarget "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10431241"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111663 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8434608"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111664 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050477 ; owl:annotatedTarget "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10431241"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111665 ; owl:annotatedTarget "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20206334"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111666 ; owl:annotatedTarget "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11719902"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111667 ; owl:annotatedTarget "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22424600"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22482807"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111668 ; owl:annotatedTarget "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22383261"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111669 ; owl:annotatedTarget "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19479957"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2039493"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111670 ; owl:annotatedTarget "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK2692/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/10484776"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111671 ; owl:annotatedTarget "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK316514/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26340091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111672 ; owl:annotatedTarget "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30290151"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111673 ; owl:annotatedTarget "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31607425"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111674 ; owl:annotatedTarget "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31327510"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111675 ; owl:annotatedTarget "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in WDR37 on chromosome 10p15.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12576314"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2989293"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111676 ; owl:annotatedTarget "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22137173"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111677 ; owl:annotatedTarget "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17129779"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111678 ; owl:annotatedTarget "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12815595"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111679 ; owl:annotatedTarget "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7833921"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111680 ; owl:annotatedTarget "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10515893"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/5058793"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111681 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21922595"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8725780"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111682 ; owl:annotatedTarget "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12707950"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2411134"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111683 ; owl:annotatedTarget "A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8644741"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111684 ; owl:annotatedTarget "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22561515"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8644741"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111685 ; owl:annotatedTarget "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16525031"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111686 ; owl:annotatedTarget "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10848923"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040026 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger chlorhexidine."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20140962"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8644736"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111687 ; owl:annotatedTarget "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25865493"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8834052"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111688 ; owl:annotatedTarget "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20548044"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111689 ; owl:annotatedTarget "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29939203"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111690 ; owl:annotatedTarget "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Epidemic_typhus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050480 ; owl:annotatedTarget "A typhus that has_material_basis _in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23518707"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111691 ; owl:annotatedTarget "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22491192"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24114805"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31664034"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111692 ; owl:annotatedTarget "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31539032"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111693 ; owl:annotatedTarget "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in YEATS2 on chromosome 3q27.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111694 ; owl:annotatedTarget "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31664039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111695 ; owl:annotatedTarget "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111696 ; owl:annotatedTarget "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24678003"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8825606"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111697 ; owl:annotatedTarget "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in MEIS2 on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14617756"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7477119"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9207799"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111698 ; owl:annotatedTarget "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23808541"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111699 ; owl:annotatedTarget "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15178757"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17242276"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111700 ; owl:annotatedTarget "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7485162"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111701 ; owl:annotatedTarget "A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1705765"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2915059"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111702 ; owl:annotatedTarget "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28285122"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7628119"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111703 ; owl:annotatedTarget "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/23188045"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24715439"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25402011"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111704 ; owl:annotatedTarget "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25808193"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26970110"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111705 ; owl:annotatedTarget "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21703590"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/820824"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111706 ; owl:annotatedTarget "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23830519"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7531539"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111707 ; owl:annotatedTarget "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12."^^xsd:string . [] dc:type obo:ECO_0007638, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21176769"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111708 ; owl:annotatedTarget "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8595410"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111709 ; owl:annotatedTarget "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19609311"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21801157"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111710 ; owl:annotatedTarget "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25285920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111711 ; owl:annotatedTarget "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10951461"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12938037"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111712 ; owl:annotatedTarget "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18454453"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24891339"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111713 ; owl:annotatedTarget "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26248010"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111714 ; owl:annotatedTarget "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27195816"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111715 ; owl:annotatedTarget "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30802441"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111716 ; owl:annotatedTarget "A physical disorder characterized by ocular dysplasia with eyelid malformation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16352480"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29688405"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111717 ; owl:annotatedTarget "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111718 ; owl:annotatedTarget "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111719 ; owl:annotatedTarget "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16352480"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111720 ; owl:annotatedTarget "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30506946"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111721 ; owl:annotatedTarget "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30506946"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111722 ; owl:annotatedTarget "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4134631"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111723 ; owl:annotatedTarget "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301776"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/31516831"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111724 ; owl:annotatedTarget "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111725 ; owl:annotatedTarget "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111726 ; owl:annotatedTarget "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27068007"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111727 ; owl:annotatedTarget "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in LTBP3 on chromosome 11q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24813307"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/28298626"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111728 ; owl:annotatedTarget "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20547126"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111729 ; owl:annotatedTarget "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23115331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111730 ; owl:annotatedTarget "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24207120"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111731 ; owl:annotatedTarget "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6734674"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111732 ; owl:annotatedTarget "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22158542"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8071961"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111733 ; owl:annotatedTarget "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16152638"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7689389"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111734 ; owl:annotatedTarget "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8872482"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111735 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in SMPX on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18005182"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7942846"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111736 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20412083"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7839145"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111737 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28096187"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111738 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20021999"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8968763"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111739 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23714752"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111740 ; owl:annotatedTarget "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in COL4A6 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16816020"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/25986071"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111741 ; owl:annotatedTarget "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26456284"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111742 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29474920"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111743 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in PUM1 on chromosome 1p35.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25477146"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111744 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in TRPC3 on chromosome 4q27."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27583304"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111745 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30381368"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111746 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in STUB1 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31632837"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/9159738"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111747 ; owl:annotatedTarget "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1550128"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111748 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29917077"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111749 ; owl:annotatedTarget "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16049925"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111750 ; owl:annotatedTarget "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10577941"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16650816"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17341440"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7689389"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8019558"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111751 ; owl:annotatedTarget "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1613771"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8817331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111752 ; owl:annotatedTarget "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19188198"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111753 ; owl:annotatedTarget "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696015"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111754 ; owl:annotatedTarget "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17562939"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19458970"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3711913"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3736869"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8644732"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111755 ; owl:annotatedTarget "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14213470"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111756 ; owl:annotatedTarget "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23352258"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111757 ; owl:annotatedTarget "A nonsyndromic deafness characterized by a Y-lnked inheritance mode."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30341416"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111758 ; owl:annotatedTarget "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in TBL1Y on chromosome Yp11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18720061"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111759 ; owl:annotatedTarget "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301589"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111760 ; owl:annotatedTarget "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15378545"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111761 ; owl:annotatedTarget "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21183788"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111762 ; owl:annotatedTarget "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Murine_typhus"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050481 ; owl:annotatedTarget "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21208124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8262517"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111763 ; owl:annotatedTarget "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27378692"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111764 ; owl:annotatedTarget "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17190868"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111765 ; owl:annotatedTarget "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15502827"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20452998"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111766 ; owl:annotatedTarget "A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18930124"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22102271"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111767 ; owl:annotatedTarget "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8530058"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111768 ; owl:annotatedTarget "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21129722"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111769 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in MAP3K1 on chromosome 5q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24549039"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111770 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in ZFPM2 on chromosome 8q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10780781"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/19417767"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111771 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10369247"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111772 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21802064"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4352099"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111773 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15356051"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111774 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22051515"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111775 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of SOX9 on chromosome 17q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19361780"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111776 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in CBX2 on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/567843"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7951319"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111777 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string, "url:http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050484 ; owl:annotatedTarget "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/2247151"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111778 ; owl:annotatedTarget "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15800844"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111779 ; owl:annotatedTarget "A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20451169"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30450804"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111780 ; owl:annotatedTarget "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25434005"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111781 ; owl:annotatedTarget "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10706363"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16926860"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301567"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111782 ; owl:annotatedTarget "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20301567"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111783 ; owl:annotatedTarget "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15654694"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111784 ; owl:annotatedTarget "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15523633"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111785 ; owl:annotatedTarget "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15523633"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111786 ; owl:annotatedTarget "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27426733"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111787 ; owl:annotatedTarget "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/16538226"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111788 ; owl:annotatedTarget "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15523657"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20137777"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111789 ; owl:annotatedTarget "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17013395"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111790 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22065086"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111791 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8661013"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111792 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9806847"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111793 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12525540"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111794 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17516023"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111795 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in GPR143 on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8024619"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040027 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger cyclophosphamide."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10090899"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111796 ; owl:annotatedTarget "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://europepmc.org/article/med/305814"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111797 ; owl:annotatedTarget "A congenital nystagmus characterized by autosomal recessive inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15558518"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8559248"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111798 ; owl:annotatedTarget "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30842225/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/13300470"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24431331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111799 ; owl:annotatedTarget "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17506106"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24075189"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111800 ; owl:annotatedTarget "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12612584"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/20803647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111801 ; owl:annotatedTarget "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24906020"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111802 ; owl:annotatedTarget "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12471201"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111803 ; owl:annotatedTarget "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22095910"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111804 ; owl:annotatedTarget "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18252212"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/21340693"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111805 ; owl:annotatedTarget "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15846561"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111806 ; owl:annotatedTarget "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17236193"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/17273977"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/26373900"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111807 ; owl:annotatedTarget "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17033964"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111808 ; owl:annotatedTarget "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/15004558"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/8723122"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111809 ; owl:annotatedTarget "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1679229"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111810 ; owl:annotatedTarget "A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28."^^xsd:string . [] oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/sennetsu-fever/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050485 ; owl:annotatedTarget "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24993872"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4998085"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111811 ; owl:annotatedTarget "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16566018"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111812 ; owl:annotatedTarget "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23709756"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111813 ; owl:annotatedTarget "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23000143"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/24011988"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111814 ; owl:annotatedTarget "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9062355"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111815 ; owl:annotatedTarget "A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Exanthem"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050486 ; owl:annotatedTarget "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21167467"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/7915184"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111816 ; owl:annotatedTarget "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12457340"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/14361398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111817 ; owl:annotatedTarget "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in GJA1 on chromosome 6q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17476456"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111818 ; owl:annotatedTarget "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16222680"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111819 ; owl:annotatedTarget "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16189548"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/27072775"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111820 ; owl:annotatedTarget "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22105905"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/4037843"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111821 ; owl:annotatedTarget "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7408908"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111822 ; owl:annotatedTarget "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1169993"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111823 ; owl:annotatedTarget "A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency."^^xsd:string . [] dc:type obo:ECO_0007636 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111824 ; owl:annotatedTarget "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Scarlet_fever#Rash"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050487 ; owl:annotatedTarget "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6344635"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111825 ; owl:annotatedTarget "An Aarskog syndrome characterized by autosomal dominant inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22784330"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/839509"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111826 ; owl:annotatedTarget "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/18179898"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/3341327"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111827 ; owl:annotatedTarget "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10807077"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111828 ; owl:annotatedTarget "A hereditary ataxia characterized by X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10797423"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/22912398"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111829 ; owl:annotatedTarget "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/13541590"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111830 ; owl:annotatedTarget "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3614654"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111831 ; owl:annotatedTarget "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3470628"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111832 ; owl:annotatedTarget "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18241076"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111833 ; owl:annotatedTarget "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27019227"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111834 ; owl:annotatedTarget "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30061370"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111835 ; owl:annotatedTarget "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in IRS4 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9141550"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111836 ; owl:annotatedTarget "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27603907"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111837 ; owl:annotatedTarget "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in TBL1X on chromosome Xp22.3-p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30224647"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111838 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in MSL3 on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31036665"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111839 ; owl:annotatedTarget "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31006512"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111840 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30941876"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111841 ; owl:annotatedTarget "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30982611"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111842 ; owl:annotatedTarget "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30471091"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111843 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30335141"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111844 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in SLC9A7 on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28296084"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30765867"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111845 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26944472"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111846 ; owl:annotatedTarget "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in ATP11C on chromosome Xq27.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27380894"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111847 ; owl:annotatedTarget "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29358272"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111848 ; owl:annotatedTarget "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31564437"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111849 ; owl:annotatedTarget "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28041644"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111850 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in PIH1D3 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31959991"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111851 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29727692"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/29727693"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111852 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30471717"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/pubmed/30471718"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111853 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30388400"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111854 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25048963"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111855 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31630787"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111856 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/31978331"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111857 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30665704"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111858 ; owl:annotatedTarget "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27811305/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111859 ; owl:annotatedTarget "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in AMMECR1 on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12011158/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111860 ; owl:annotatedTarget "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27632686/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111861 ; owl:annotatedTarget "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27476656/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111862 ; owl:annotatedTarget "An azoospermia characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27476656/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111863 ; owl:annotatedTarget "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in ADGRG2 on chromosome Xp22.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7529962/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111864 ; owl:annotatedTarget "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in CFTR on chromosome 7q31.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22229330/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24700572/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111865 ; owl:annotatedTarget "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111866 ; owl:annotatedTarget "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111867 ; owl:annotatedTarget "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25612912/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31880405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111868 ; owl:annotatedTarget "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in RNF113A on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050488 ; owl:annotatedTarget "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9012405/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111869 ; owl:annotatedTarget "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC3 on chromosome 2q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31374204/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111870 ; owl:annotatedTarget "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in TARS1 on chromosome 5p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15220921/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111871 ; owl:annotatedTarget "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26996949/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111872 ; owl:annotatedTarget "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2E2 on chromosome 8p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9195225/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111873 ; owl:annotatedTarget "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7325159/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111874 ; owl:annotatedTarget "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Multinodular_goitre"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050489 ; owl:annotatedTarget "A goiter characterized by a multinodular enlargement of the thyroid gland."^^xsd:string . [] dc:type obo:ECO_0007645, obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20301767/"^^xsd:string, "url:https://www.ncbi.nlm.nih.gov/books/NBK7041/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111875 ; owl:annotatedTarget "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25772934/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111876 ; owl:annotatedTarget "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23122588/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9747372/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111877 ; owl:annotatedTarget "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111878 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111879 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25424902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111880 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111881 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS7 on chromosome 2p25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23812780/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111882 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL15 on chromosome 3p24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18535205/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111883 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20116044/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111884 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS10 on chromosome 6p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11264183/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111885 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28280134/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111886 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17186470/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111887 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS24 on chromosome 10q22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20116044/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111888 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS26 on chromosome 12q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24829207/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111889 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS29 on chromosome 14q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17647292/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111890 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27909223/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111891 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22431104/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111892 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25424902/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111893 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2410473"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040028 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger succinylcholine."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050490 ; owl:annotatedTarget "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24942156/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111894 ; owl:annotatedTarget "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9988267/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111895 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28280134/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111896 ; owl:annotatedTarget "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL18 on chromosome 19q13.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11424144/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24942156/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111897 ; owl:annotatedTarget "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19377476/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21129721/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111898 ; owl:annotatedTarget "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19846852/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111899 ; owl:annotatedTarget "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/6239102/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/7545463/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/7780139/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111900 ; owl:annotatedTarget "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2647747/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8562924/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111901 ; owl:annotatedTarget "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8164741/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8430067/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9454742/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111902 ; owl:annotatedTarget "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8236132/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9414276/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111903 ; owl:annotatedTarget "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6139528/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111904 ; owl:annotatedTarget "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10063989/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20484936/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111905 ; owl:annotatedTarget "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12643326/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/665314/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111906 ; owl:annotatedTarget "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11570053/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22716977/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111907 ; owl:annotatedTarget "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22036808/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111908 ; owl:annotatedTarget "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/2437584/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6547008/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111909 ; owl:annotatedTarget "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30656449/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111910 ; owl:annotatedTarget "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30137358/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111911 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31621862/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111912 ; owl:annotatedTarget "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28536242/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111913 ; owl:annotatedTarget "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30683861/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111914 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in QRICH2 on chromosome 17q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30122540/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111915 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30075111/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111916 ; owl:annotatedTarget "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in FANCM on chromosome 14q21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31048344/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31151990/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111917 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31413122/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111918 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30686508/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111919 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050491 ; owl:annotatedTarget "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26199321/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111920 ; owl:annotatedTarget "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30893644/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111921 ; owl:annotatedTarget "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in PPP2R3C on chromosome 14q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30032984/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111922 ; owl:annotatedTarget "A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31735292/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31735294/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111923 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28905369/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111924 ; owl:annotatedTarget "A spermatogenic failure characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Papillomaviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050494 ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20506135/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111925 ; owl:annotatedTarget "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in SOHLH1 on chromosome 9q34.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31178125/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111926 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in DNAH17 on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30929735/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111927 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC21A on chromosome 3p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29365104/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111928 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29606301/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111929 ; owl:annotatedTarget "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28554943/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111930 ; owl:annotatedTarget "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18297069/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8818947/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111931 ; owl:annotatedTarget "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in FAM58A on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/12615169/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111932 ; owl:annotatedTarget "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/16567715/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/4230542/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111933 ; owl:annotatedTarget "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22859821/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25307056/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111934 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20156905/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23897980/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111935 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24165795/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111936 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9664084/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111937 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24870241/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111938 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25365219/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111939 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26160376/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111940 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23006327/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111941 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16672702/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111942 ; owl:annotatedTarget "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2511270/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111943 ; owl:annotatedTarget "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12590259/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111944 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11452125/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111945 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21714643/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23534974/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23541320/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111946 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21242295/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21670465/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24227816/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111947 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26642240/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111948 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27221134/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111949 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Exanthema_subitum"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050495 ; owl:annotatedTarget "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9854038/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111950 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26083206/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111951 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30026316/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111952 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14981714/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24589341/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111953 ; owl:annotatedTarget "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28530713/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111954 ; owl:annotatedTarget "A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 on chromosome 6q15."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Anelloviridae"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050497 ; owl:annotatedTarget "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8960473/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8960475/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111955 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10192386/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111956 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23374270/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23561803/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111957 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28628108/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111958 ; owl:annotatedTarget "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24369075/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111959 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050498 ; owl:annotatedTarget "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30337470/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111960 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19075392/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23722905/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111961 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32048120/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111962 ; owl:annotatedTarget "A primary immunodeficiency disease that involves multiple components of the immune system."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111963 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111964 ; owl:annotatedTarget "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111965 ; owl:annotatedTarget "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111966 ; owl:annotatedTarget "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050499 ; owl:annotatedTarget "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16532402/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22354167/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111967 ; owl:annotatedTarget "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23416241/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9096364/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111968 ; owl:annotatedTarget "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25814066/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111969 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26560041/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111970 ; owl:annotatedTarget "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15546002/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8490660/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111971 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050500 ; owl:annotatedTarget "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14602880/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21883749/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111972 ; owl:annotatedTarget "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1635567/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17277165/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8325321/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111973 ; owl:annotatedTarget "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27913302/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111974 ; owl:annotatedTarget "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in HYOU1 on chromosome 11q23.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23391734/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26122121/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111975 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16582901/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20004786/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111976 ; owl:annotatedTarget "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050501 ; owl:annotatedTarget "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21206088/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111977 ; owl:annotatedTarget "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30143481/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30826365/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111978 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27959755/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29985992/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111979 ; owl:annotatedTarget "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27776107/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29155103/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29282224/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111980 ; owl:annotatedTarget "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16549777/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25702838/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111981 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050502 ; owl:annotatedTarget "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23440042/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111982 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27242165/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27522155/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111983 ; owl:annotatedTarget "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27647349/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29479355/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111984 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27893462/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6279813/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111985 ; owl:annotatedTarget "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21524210/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111986 ; owl:annotatedTarget "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050503 ; owl:annotatedTarget "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22184408/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111987 ; owl:annotatedTarget "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23727036/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24332264/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111988 ; owl:annotatedTarget "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26304966/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111989 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9603732/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9603733/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111990 ; owl:annotatedTarget "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30521495/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111991 ; owl:annotatedTarget "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Viral_classification"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050504 ; owl:annotatedTarget "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26385063/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111992 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28414293/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111993 ; owl:annotatedTarget "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26424569/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111994 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in IFNAR2 on chromosome 21q22.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11335769/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111995 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27930337/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111996 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3377143"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040029 ; owl:annotatedTarget "A drug allergy that has_allergic_trigger trimethoprim."^^xsd:string . [] oboInOwl:hasDbXref "url:http://www.infectagentscancer.com/content/5/1/17"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050505 ; owl:annotatedTarget "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31040184/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31040185/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111997 ; owl:annotatedTarget "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26224645/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111998 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in MKL1 on chromosome 22q13.1-q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29636373/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0111999 ; owl:annotatedTarget "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17293536/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21278736/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112000 ; owl:annotatedTarget "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27405666/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112001 ; owl:annotatedTarget "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12."^^xsd:string . [] oboInOwl:hasDbXref "url:http://emedicine.medscape.com/article/219110-overview"^^xsd:string, "url:http://emedicine.medscape.com/article/269188-overview"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050506 ; owl:annotatedTarget "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27231034/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112002 ; owl:annotatedTarget "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15356572/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31965418/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112003 ; owl:annotatedTarget "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30254128/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112004 ; owl:annotatedTarget "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32499645/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112005 ; owl:annotatedTarget "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in IVNS1ABP on chromosome 1q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32163377/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112006 ; owl:annotatedTarget "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.who.int/csr/disease/smallpox/en/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050508 ; owl:annotatedTarget "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25470569/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25806920/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112007 ; owl:annotatedTarget "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in GPR101 on chromosome Xq26.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28413019/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112008 ; owl:annotatedTarget "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in CDH23 on chromosome 10q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16728643/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17360484/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112009 ; owl:annotatedTarget "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28766057/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9589663/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112010 ; owl:annotatedTarget "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16227106/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17367233/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22405088/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112011 ; owl:annotatedTarget "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17367233/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24313295/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112012 ; owl:annotatedTarget "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22405088/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/24452206/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112013 ; owl:annotatedTarget "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://www.jstor.org/stable/30117350"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050511 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31513549/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112014 ; owl:annotatedTarget "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in MYOCD on chromosome 17p12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32647003/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112015 ; owl:annotatedTarget "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2602357/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/6839531/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112016 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11477616/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112017 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112018 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in FRMPD4 on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007637, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:http://jvi.asm.org/cgi/content/full/83/9/4631"^^xsd:string, "url:http://www.cdc.gov/EID/content/15/9/1509.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050512 ; owl:annotatedTarget "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17100996/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112019 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in RPS6KA3 on chromosome Xp22.12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24817631/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112020 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in KLHL15 on chromosome Xp22.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17480217/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112021 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18801879/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112022 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in IL1RAPL1 on chromosome Xp21.3-p21.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7573127/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112023 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10449641/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/12070254/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112024 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in TSPAN7 on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26833328/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112025 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in USP9X on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24607389/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112026 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in USP9X on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8026106/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112027 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112028 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9415477/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112029 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15326629/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112030 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050513 ; owl:annotatedTarget "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14628291/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112031 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16385466/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112032 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12673650/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112033 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/15162322/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112034 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in FTSJ1 on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19377476/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112035 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112036 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in USP27X on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22840365/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/7943039/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112037 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20473311/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/3177466/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112038 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12949971/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112039 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24812067/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112040 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in KIF4A on chromosome Xq13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15185169/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112041 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in DLG3 on chromosome Xq13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25735484/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/29728705/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112042 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15915161/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112043 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23615299/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27358180/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112044 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17668385/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112045 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in BRWD3 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10398247/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27993705/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112046 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in ZNF711 on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11337751/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112047 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24115387/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112048 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in MID2 on chromosome Xq22.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/6711606/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8852668/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112049 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10854107/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/11889465/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112050 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10946356/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9332663/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9731525/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112051 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15526294/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112052 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12089445/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112053 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29374277/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112054 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9783701/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112055 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26166480/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112056 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11807862/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112057 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8826463/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9106537/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9620768/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112058 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in GDI1 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11050621/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/20159109/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112059 ; owl:annotatedTarget "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in RAB39B on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23647072/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/27550844/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8826458/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9415477/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112060 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30723080/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32542921/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112061 ; owl:annotatedTarget "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25512081/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112062 ; owl:annotatedTarget "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32706371/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112063 ; owl:annotatedTarget "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in TLR7 on chromosome Xp22.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050514 ; owl:annotatedTarget "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21167572/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/32542921/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112064 ; owl:annotatedTarget "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22644603/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/22972949/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112065 ; owl:annotatedTarget "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11220739/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112066 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in NDUFS2 on chromosome 1q23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22277967/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112067 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11349233/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112068 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21150889/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112069 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA10 on chromosome 2q37.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19463981/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112070 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28604674/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112071 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/acad9-deficiency"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17564966/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21057504/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112072 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15372108/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112073 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS6 on chromosome 5p15.33."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string, "url:https://www.sciencedirect.com/topics/neuroscience/paralytic-polio"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050515 ; owl:annotatedTarget "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10330338/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/10944442/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112074 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16200211/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112075 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF2 on chromosome 5q12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18513682/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112076 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18179882/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112077 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF4 on chromosome 6q16.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18614015/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112078 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22200994/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112079 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB9 on chromosome 8q24.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29429571/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112080 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14729820/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112081 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS3 on chromosome 11p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10080174/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112082 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9837812/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112083 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS8 on chromosome 11q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27374773/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112084 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20818383/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112085 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in FOXRED1 on chromosome 11q24.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22114105/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112086 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA9 on chromosome 12p13.32."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21617257/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112087 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20818383/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112088 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17557076/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112089 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF1 on chromosome 15q15.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22499348/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112090 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MTFMT on chromosome 15q22.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31866046/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112091 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF8 on chromosome 17q25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12754703/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112092 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10330338/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17275378/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112093 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS7 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18306244/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112094 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA11 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25901006/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112095 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/18940309/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112096 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30245030/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112097 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112098 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string . [] dc:type obo:ECO_0007646 ; oboInOwl:hasDbXref "url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050516 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17262856/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112099 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22972949/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112100 ; owl:annotatedTarget "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11456298/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112101 ; owl:annotatedTarget "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20673863/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112102 ; owl:annotatedTarget "A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11896389/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/14517949/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112103 ; owl:annotatedTarget "A Sotos syndrome that has_material_basis_in heterozygous mutation in NSD1 or deletion in the chromosome region 5q35 that includes NSD1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16867046"^^xsd:string ; a owl:Axiom ; rdfs:comment "IEDB:RV"^^xsd:string ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0040030 ; owl:annotatedTarget "A cephalosporin allergy that has_allergic_trigger cefixime."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25753423/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112104 ; owl:annotatedTarget "A Sotos syndrome that has_material_basis_in homozygous mutation in APC2 on chromosome 19p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20629132/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23595882/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112105 ; owl:annotatedTarget "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16001442/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112106 ; owl:annotatedTarget "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/17683354/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8004674/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112107 ; owl:annotatedTarget "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32779703/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112108 ; owl:annotatedTarget "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in SVIL on chromosome 10p11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31654588/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112109 ; owl:annotatedTarget "A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in CEP112 on chromosome 17q24.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29361167/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112110 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31039582/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112111 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27356879/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112112 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23603806/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112113 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3."^^xsd:string . [] oboInOwl:hasDbXref "url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050517 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30566640/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112114 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112115 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30452684/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112116 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112117 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30283131/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112118 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATC on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30283131/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112119 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATB on chromosome 4q31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9140395/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/9916840/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112120 ; owl:annotatedTarget "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15872203/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112121 ; owl:annotatedTarget "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in AVPR2 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14985377/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21441247/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112122 ; owl:annotatedTarget "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24011989/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112123 ; owl:annotatedTarget "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10094550/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/1733835/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112124 ; owl:annotatedTarget "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12858175/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112125 ; owl:annotatedTarget "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in ATRX on chromosome Xq21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16249884/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112126 ; owl:annotatedTarget "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in SHROOM4 on chromosome Xp11.22."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10657589/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/2896620/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112127 ; owl:annotatedTarget "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11242115/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112128 ; owl:annotatedTarget "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24753537/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26324699/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112129 ; owl:annotatedTarget "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3."^^xsd:string . [] dc:type obo:ECO_0007636, obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/28593997/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112130 ; owl:annotatedTarget "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12778173/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112131 ; owl:annotatedTarget "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23599270/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/23738510/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112132 ; owl:annotatedTarget "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2."^^xsd:string . [] dc:type obo:ECO_0007638 ; oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ross_River_fever"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050518 ; owl:annotatedTarget "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17187068/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/21108402/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112133 ; owl:annotatedTarget "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25129144/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112134 ; owl:annotatedTarget "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28972538/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112135 ; owl:annotatedTarget "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in SRP54 on chromosome 14q13.2."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050519 ; owl:annotatedTarget "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19118303/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112136 ; owl:annotatedTarget "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30607703/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112137 ; owl:annotatedTarget "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29044765/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112138 ; owl:annotatedTarget "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28040730/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112139 ; owl:annotatedTarget "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB10 on chromosome 16p13.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30932721/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112140 ; owl:annotatedTarget "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32."^^xsd:string . [] dc:type obo:ECO_0007637 ; oboInOwl:hasDbXref "url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0050520 ; owl:annotatedTarget "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24737827/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30208423/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112141 ; owl:annotatedTarget "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29726989/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112142 ; owl:annotatedTarget "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30120214/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112143 ; owl:annotatedTarget "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in KIAA1549 on chromosome 7q34."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27307694/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/30628748/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112144 ; owl:annotatedTarget "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in RPE65 on chromosome 1p31.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30025130/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31236346/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/31833436/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112145 ; owl:annotatedTarget "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in RP1L1 on chromosome 8p23.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32386558/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112146 ; owl:annotatedTarget "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in KIF3B on chromosome 20q11.21."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28412069/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112147 ; owl:annotatedTarget "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in IDH3A on chromosome 15q25.1."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11102932/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/26933038/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112148 ; owl:annotatedTarget "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in FHL1 on chromosome Xq26.3."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20598277/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112149 ; owl:annotatedTarget "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in FLNA on chromosome Xq28."^^xsd:string . [] dc:type obo:ECO_0007645 ; oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27236923/"^^xsd:string, "url:https://pubmed.ncbi.nlm.nih.gov/8064814/"^^xsd:string ; a owl:Axiom ; owl:annotatedProperty obo:IAO_0000115 ; owl:annotatedSource obo:DOID_0112150 ; owl:annotatedTarget "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28."^^xsd:string .